Incidental Mutation 'R1786:Cad'
ID |
202801 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cad
|
Ensembl Gene |
ENSMUSG00000013629 |
Gene Name |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
Synonyms |
2410008J01Rik |
MMRRC Submission |
039817-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
R1786 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
31212124-31235823 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 31215416 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 76
(F76I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144127
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013766]
[ENSMUST00000013773]
[ENSMUST00000200942]
[ENSMUST00000200953]
[ENSMUST00000202795]
[ENSMUST00000201182]
[ENSMUST00000201838]
[ENSMUST00000201773]
[ENSMUST00000201136]
|
AlphaFold |
B2RQC6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000013766
|
SMART Domains |
Protein: ENSMUSP00000013766 Gene: ENSMUSG00000013622
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
EGF
|
149 |
187 |
2.03e1 |
SMART |
transmembrane domain
|
192 |
214 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000013773
AA Change: F76I
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000013773 Gene: ENSMUSG00000013629 AA Change: F76I
Domain | Start | End | E-Value | Type |
CPSase_sm_chain
|
1 |
139 |
8.81e-80 |
SMART |
Pfam:GATase
|
179 |
356 |
4.7e-47 |
PFAM |
low complexity region
|
397 |
407 |
N/A |
INTRINSIC |
Pfam:ATP-grasp_4
|
511 |
692 |
1.2e-15 |
PFAM |
Pfam:CPSase_L_D2
|
514 |
718 |
1.8e-85 |
PFAM |
Pfam:ATP-grasp
|
522 |
690 |
1.5e-9 |
PFAM |
Pfam:Dala_Dala_lig_C
|
527 |
687 |
2.2e-10 |
PFAM |
CPSase_L_D3
|
798 |
921 |
9.7e-59 |
SMART |
Pfam:ATP-grasp_4
|
1044 |
1223 |
1.8e-23 |
PFAM |
Pfam:CPSase_L_D2
|
1047 |
1250 |
3.1e-28 |
PFAM |
Pfam:Dala_Dala_lig_C
|
1054 |
1242 |
2.3e-7 |
PFAM |
Pfam:ATP-grasp
|
1055 |
1222 |
2.1e-12 |
PFAM |
MGS
|
1327 |
1428 |
1.35e-7 |
SMART |
Pfam:Amidohydro_1
|
1462 |
1730 |
7.4e-12 |
PFAM |
low complexity region
|
1820 |
1839 |
N/A |
INTRINSIC |
low complexity region
|
1864 |
1880 |
N/A |
INTRINSIC |
Pfam:OTCace_N
|
1924 |
2065 |
1.9e-44 |
PFAM |
Pfam:OTCace
|
2071 |
2221 |
7.6e-37 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031049
AA Change: F76I
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000031049 Gene: ENSMUSG00000013629 AA Change: F76I
Domain | Start | End | E-Value | Type |
CPSase_sm_chain
|
1 |
139 |
8.81e-80 |
SMART |
Pfam:GATase
|
179 |
356 |
3.8e-48 |
PFAM |
Pfam:CPSase_L_chain
|
392 |
509 |
2.1e-20 |
PFAM |
Pfam:CPSase_L_D2
|
514 |
616 |
1.9e-34 |
PFAM |
Pfam:ATP-grasp
|
522 |
626 |
1.7e-6 |
PFAM |
Pfam:Dala_Dala_lig_C
|
524 |
624 |
2.7e-7 |
PFAM |
Pfam:CPSase_L_D2
|
614 |
655 |
5.2e-15 |
PFAM |
CPSase_L_D3
|
735 |
858 |
9.7e-59 |
SMART |
Pfam:CPSase_L_chain
|
868 |
979 |
2.9e-20 |
PFAM |
Pfam:ATP-grasp_4
|
981 |
1160 |
6.4e-24 |
PFAM |
Pfam:CPSase_L_D2
|
984 |
1187 |
3.5e-28 |
PFAM |
Pfam:Dala_Dala_lig_C
|
991 |
1179 |
1.2e-6 |
PFAM |
Pfam:ATP-grasp
|
992 |
1159 |
1.6e-11 |
PFAM |
MGS
|
1264 |
1365 |
1.35e-7 |
SMART |
Pfam:Amidohydro_5
|
1374 |
1437 |
9.4e-7 |
PFAM |
Pfam:Amidohydro_1
|
1399 |
1597 |
1.9e-12 |
PFAM |
Pfam:Amidohydro_4
|
1401 |
1692 |
5.5e-15 |
PFAM |
low complexity region
|
1757 |
1776 |
N/A |
INTRINSIC |
low complexity region
|
1801 |
1817 |
N/A |
INTRINSIC |
Pfam:OTCace_N
|
1861 |
2003 |
1.7e-48 |
PFAM |
Pfam:OTCace
|
2008 |
2158 |
1.5e-42 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200748
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200800
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200942
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000200953
AA Change: F76I
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000144307 Gene: ENSMUSG00000013629 AA Change: F76I
Domain | Start | End | E-Value | Type |
CPSase_sm_chain
|
1 |
139 |
8.81e-80 |
SMART |
Pfam:GATase
|
179 |
356 |
4.5e-47 |
PFAM |
low complexity region
|
397 |
407 |
N/A |
INTRINSIC |
Pfam:CPSase_L_D2
|
514 |
616 |
1.5e-34 |
PFAM |
Pfam:Dala_Dala_lig_C
|
527 |
625 |
2.4e-7 |
PFAM |
Pfam:CPSase_L_D2
|
614 |
655 |
4.9e-15 |
PFAM |
CPSase_L_D3
|
735 |
858 |
9.7e-59 |
SMART |
Pfam:ATP-grasp_4
|
981 |
1160 |
1.7e-23 |
PFAM |
Pfam:CPSase_L_D2
|
984 |
1187 |
3e-28 |
PFAM |
Pfam:Dala_Dala_lig_C
|
991 |
1179 |
2.3e-7 |
PFAM |
Pfam:ATP-grasp
|
992 |
1159 |
2.1e-12 |
PFAM |
MGS
|
1264 |
1365 |
1.35e-7 |
SMART |
Pfam:Amidohydro_1
|
1399 |
1667 |
7.1e-12 |
PFAM |
low complexity region
|
1757 |
1776 |
N/A |
INTRINSIC |
low complexity region
|
1801 |
1817 |
N/A |
INTRINSIC |
Pfam:OTCace_N
|
1861 |
2002 |
1.8e-44 |
PFAM |
Pfam:OTCace
|
2008 |
2158 |
7.3e-37 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202795
AA Change: F76I
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000144009 Gene: ENSMUSG00000013629 AA Change: F76I
Domain | Start | End | E-Value | Type |
CPSase_sm_chain
|
1 |
139 |
8.81e-80 |
SMART |
Pfam:GATase
|
179 |
356 |
1.9e-47 |
PFAM |
low complexity region
|
397 |
407 |
N/A |
INTRINSIC |
Pfam:ATP-grasp_4
|
511 |
692 |
5.9e-16 |
PFAM |
Pfam:CPSase_L_D2
|
514 |
718 |
1.2e-85 |
PFAM |
Pfam:ATP-grasp
|
522 |
690 |
7.3e-10 |
PFAM |
Pfam:Dala_Dala_lig_C
|
527 |
687 |
1.3e-10 |
PFAM |
CPSase_L_D3
|
798 |
921 |
9.7e-59 |
SMART |
Pfam:ATP-grasp_4
|
1044 |
1223 |
8.9e-24 |
PFAM |
Pfam:CPSase_L_D2
|
1047 |
1250 |
2.1e-28 |
PFAM |
Pfam:Dala_Dala_lig_C
|
1054 |
1242 |
1.3e-7 |
PFAM |
Pfam:ATP-grasp
|
1055 |
1222 |
1.1e-12 |
PFAM |
MGS
|
1327 |
1428 |
1.35e-7 |
SMART |
Pfam:Amidohydro_1
|
1462 |
1730 |
2.5e-11 |
PFAM |
low complexity region
|
1820 |
1839 |
N/A |
INTRINSIC |
low complexity region
|
1864 |
1880 |
N/A |
INTRINSIC |
Pfam:OTCace_N
|
1970 |
2004 |
4.6e-11 |
PFAM |
Pfam:OTCace
|
2010 |
2160 |
9.9e-37 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000201182
AA Change: F76I
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000144684 Gene: ENSMUSG00000013629 AA Change: F76I
Domain | Start | End | E-Value | Type |
CPSase_sm_chain
|
1 |
139 |
8.81e-80 |
SMART |
Pfam:GATase
|
179 |
356 |
4.5e-47 |
PFAM |
low complexity region
|
397 |
407 |
N/A |
INTRINSIC |
Pfam:ATP-grasp_4
|
511 |
692 |
1.1e-15 |
PFAM |
Pfam:CPSase_L_D2
|
514 |
718 |
1.7e-85 |
PFAM |
Pfam:ATP-grasp
|
522 |
690 |
1.4e-9 |
PFAM |
Pfam:Dala_Dala_lig_C
|
527 |
687 |
2.1e-10 |
PFAM |
CPSase_L_D3
|
798 |
921 |
9.7e-59 |
SMART |
Pfam:ATP-grasp_4
|
1044 |
1223 |
1.7e-23 |
PFAM |
Pfam:CPSase_L_D2
|
1047 |
1250 |
3e-28 |
PFAM |
Pfam:Dala_Dala_lig_C
|
1054 |
1242 |
2.3e-7 |
PFAM |
Pfam:ATP-grasp
|
1055 |
1222 |
2.1e-12 |
PFAM |
MGS
|
1327 |
1428 |
1.35e-7 |
SMART |
Pfam:Amidohydro_1
|
1462 |
1730 |
7.1e-12 |
PFAM |
low complexity region
|
1820 |
1839 |
N/A |
INTRINSIC |
low complexity region
|
1864 |
1880 |
N/A |
INTRINSIC |
Pfam:OTCace_N
|
1949 |
1994 |
1.4e-11 |
PFAM |
Pfam:OTCace
|
2000 |
2150 |
7.3e-37 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000201838
AA Change: F76I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144127 Gene: ENSMUSG00000013629 AA Change: F76I
Domain | Start | End | E-Value | Type |
CPSase_sm_chain
|
1 |
139 |
8.81e-80 |
SMART |
Pfam:GATase
|
179 |
356 |
6.3e-48 |
PFAM |
low complexity region
|
397 |
407 |
N/A |
INTRINSIC |
Pfam:ATP-grasp_4
|
511 |
692 |
1.9e-16 |
PFAM |
Pfam:CPSase_L_D2
|
514 |
718 |
3.7e-86 |
PFAM |
Pfam:ATP-grasp
|
522 |
690 |
2.5e-10 |
PFAM |
Pfam:Dala_Dala_lig_C
|
526 |
687 |
4.2e-11 |
PFAM |
CPSase_L_D3
|
798 |
921 |
9.7e-59 |
SMART |
SCOP:d1a9xa3
|
935 |
964 |
1e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201887
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202967
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201844
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201773
|
SMART Domains |
Protein: ENSMUSP00000144333 Gene: ENSMUSG00000013622
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201136
|
SMART Domains |
Protein: ENSMUSP00000144085 Gene: ENSMUSG00000013622
Domain | Start | End | E-Value | Type |
EGF
|
96 |
134 |
2.03e1 |
SMART |
transmembrane domain
|
138 |
160 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.4227 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.4%
|
Validation Efficiency |
97% (98/101) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The de novo synthesis of pyrimidine nucleotides is required for mammalian cells to proliferate. This gene encodes a trifunctional protein which is associated with the enzymatic activities of the first 3 enzymes in the 6-step pathway of pyrimidine biosynthesis: carbamoylphosphate synthetase (CPS II), aspartate transcarbamoylase, and dihydroorotase. This protein is regulated by the mitogen-activated protein kinase (MAPK) cascade, which indicates a direct link between activation of the MAPK cascade and de novo biosynthesis of pyrimidine nucleotides. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 93 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
A |
6: 128,553,223 (GRCm39) |
N178I |
probably damaging |
Het |
Abcc4 |
G |
A |
14: 118,790,761 (GRCm39) |
R749C |
probably damaging |
Het |
Acot11 |
T |
C |
4: 106,619,232 (GRCm39) |
E201G |
probably damaging |
Het |
Akap13 |
G |
T |
7: 75,261,182 (GRCm39) |
A1269S |
probably benign |
Het |
Aldh4a1 |
T |
C |
4: 139,371,439 (GRCm39) |
V451A |
probably benign |
Het |
Aopep |
T |
A |
13: 63,357,963 (GRCm39) |
C656S |
probably benign |
Het |
Aox3 |
A |
G |
1: 58,209,002 (GRCm39) |
H845R |
probably damaging |
Het |
Asb6 |
G |
A |
2: 30,717,088 (GRCm39) |
R46W |
probably damaging |
Het |
Bpifb6 |
T |
C |
2: 153,748,781 (GRCm39) |
F259S |
probably damaging |
Het |
Camk2b |
T |
C |
11: 5,927,880 (GRCm39) |
E390G |
probably benign |
Het |
Cars1 |
C |
A |
7: 143,146,211 (GRCm39) |
R71M |
probably damaging |
Het |
Ccdc170 |
T |
G |
10: 4,469,043 (GRCm39) |
I197S |
probably benign |
Het |
Ccn4 |
G |
A |
15: 66,778,338 (GRCm39) |
C53Y |
probably damaging |
Het |
Cdc20b |
A |
T |
13: 113,217,668 (GRCm39) |
K362N |
probably damaging |
Het |
Cntrl |
CAGAG |
CAG |
2: 35,012,818 (GRCm39) |
|
probably null |
Het |
Cpd |
T |
C |
11: 76,683,624 (GRCm39) |
D1045G |
probably benign |
Het |
Crocc |
T |
C |
4: 140,749,113 (GRCm39) |
D1564G |
probably damaging |
Het |
Csf1r |
A |
T |
18: 61,262,149 (GRCm39) |
M802L |
probably damaging |
Het |
Dctn4 |
T |
C |
18: 60,679,407 (GRCm39) |
|
probably null |
Het |
Dnah5 |
A |
G |
15: 28,313,932 (GRCm39) |
Q1916R |
probably damaging |
Het |
Dpysl2 |
A |
G |
14: 67,100,114 (GRCm39) |
|
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,081,084 (GRCm39) |
Y2871H |
probably damaging |
Het |
Fam221b |
T |
A |
4: 43,665,537 (GRCm39) |
H307L |
probably damaging |
Het |
Foxn4 |
C |
T |
5: 114,401,193 (GRCm39) |
D37N |
probably damaging |
Het |
Gemin4 |
G |
C |
11: 76,101,876 (GRCm39) |
P962A |
probably damaging |
Het |
Gm9797 |
T |
C |
10: 11,485,069 (GRCm39) |
|
noncoding transcript |
Het |
Golim4 |
A |
T |
3: 75,815,456 (GRCm39) |
V116D |
probably damaging |
Het |
Gper1 |
C |
T |
5: 139,412,477 (GRCm39) |
P274L |
probably damaging |
Het |
Gpr132 |
A |
G |
12: 112,816,023 (GRCm39) |
S268P |
probably damaging |
Het |
Gtpbp2 |
T |
C |
17: 46,472,128 (GRCm39) |
M21T |
probably benign |
Het |
Hivep1 |
C |
T |
13: 42,337,262 (GRCm39) |
A2447V |
possibly damaging |
Het |
Ift20 |
G |
A |
11: 78,430,860 (GRCm39) |
E68K |
probably damaging |
Het |
Insrr |
G |
A |
3: 87,717,879 (GRCm39) |
|
probably null |
Het |
Kcnh8 |
T |
C |
17: 53,200,961 (GRCm39) |
V465A |
probably damaging |
Het |
Kif5c |
T |
A |
2: 49,648,817 (GRCm39) |
|
probably benign |
Het |
Kmt2a |
G |
A |
9: 44,730,972 (GRCm39) |
|
probably benign |
Het |
Lhx6 |
G |
T |
2: 35,977,470 (GRCm39) |
C327* |
probably null |
Het |
Lifr |
A |
G |
15: 7,211,337 (GRCm39) |
D625G |
possibly damaging |
Het |
Llgl1 |
T |
C |
11: 60,598,066 (GRCm39) |
V370A |
probably benign |
Het |
Lman1 |
A |
T |
18: 66,124,653 (GRCm39) |
M362K |
probably damaging |
Het |
Lmtk2 |
C |
T |
5: 144,111,806 (GRCm39) |
T842I |
possibly damaging |
Het |
Lpin3 |
T |
A |
2: 160,738,729 (GRCm39) |
L227* |
probably null |
Het |
Ltv1 |
C |
G |
10: 13,058,280 (GRCm39) |
|
probably benign |
Het |
Magel2 |
A |
T |
7: 62,027,486 (GRCm39) |
H130L |
unknown |
Het |
Mettl17 |
A |
T |
14: 52,126,192 (GRCm39) |
|
probably benign |
Het |
Mnx1 |
T |
A |
5: 29,679,187 (GRCm39) |
S299C |
unknown |
Het |
Mov10 |
A |
T |
3: 104,725,432 (GRCm39) |
I59N |
possibly damaging |
Het |
Myo7b |
T |
C |
18: 32,127,950 (GRCm39) |
I581V |
probably benign |
Het |
Ncdn |
T |
A |
4: 126,639,066 (GRCm39) |
|
probably null |
Het |
Ndufa4 |
A |
T |
6: 11,900,574 (GRCm39) |
V37E |
probably benign |
Het |
Nhsl1 |
T |
G |
10: 18,400,412 (GRCm39) |
L546R |
probably benign |
Het |
Nop9 |
T |
C |
14: 55,988,599 (GRCm39) |
L347P |
probably damaging |
Het |
Nrp1 |
A |
T |
8: 129,224,997 (GRCm39) |
E782D |
probably damaging |
Het |
Ntrk3 |
G |
A |
7: 78,127,683 (GRCm39) |
|
probably benign |
Het |
Or1j13 |
A |
G |
2: 36,370,059 (GRCm39) |
S28P |
possibly damaging |
Het |
Or2z8 |
A |
G |
8: 72,812,280 (GRCm39) |
Y252C |
probably damaging |
Het |
Or8g53 |
A |
T |
9: 39,683,791 (GRCm39) |
C102S |
probably benign |
Het |
Osbpl6 |
T |
A |
2: 76,416,558 (GRCm39) |
I546K |
probably damaging |
Het |
Pard6g |
T |
C |
18: 80,160,523 (GRCm39) |
V212A |
probably damaging |
Het |
Pknox2 |
A |
G |
9: 36,820,980 (GRCm39) |
V294A |
probably damaging |
Het |
Plekha1 |
T |
C |
7: 130,493,983 (GRCm39) |
V106A |
probably benign |
Het |
Plekha6 |
C |
A |
1: 133,207,103 (GRCm39) |
|
probably null |
Het |
Ptgdr |
A |
T |
14: 45,096,036 (GRCm39) |
Y225* |
probably null |
Het |
Ptpn22 |
A |
G |
3: 103,781,368 (GRCm39) |
I90V |
probably damaging |
Het |
Pygb |
C |
T |
2: 150,658,692 (GRCm39) |
T372I |
probably damaging |
Het |
Pzp |
T |
C |
6: 128,468,124 (GRCm39) |
|
probably null |
Het |
Qrich2 |
C |
T |
11: 116,332,275 (GRCm39) |
G2307D |
probably damaging |
Het |
Rfwd3 |
A |
T |
8: 112,024,034 (GRCm39) |
V96E |
probably benign |
Het |
Senp1 |
T |
A |
15: 97,973,848 (GRCm39) |
T132S |
probably benign |
Het |
Slc9a4 |
T |
G |
1: 40,646,901 (GRCm39) |
|
probably null |
Het |
Slfn9 |
T |
A |
11: 82,872,133 (GRCm39) |
I868F |
probably damaging |
Het |
St3gal6 |
T |
C |
16: 58,296,234 (GRCm39) |
D137G |
probably damaging |
Het |
Synj1 |
G |
T |
16: 90,761,405 (GRCm39) |
A687D |
probably damaging |
Het |
Syt4 |
A |
G |
18: 31,576,496 (GRCm39) |
|
probably benign |
Het |
Tacc1 |
A |
T |
8: 25,654,509 (GRCm39) |
N271K |
probably damaging |
Het |
Tdrd6 |
T |
C |
17: 43,935,724 (GRCm39) |
T1775A |
probably benign |
Het |
Tecpr1 |
T |
A |
5: 144,145,463 (GRCm39) |
T595S |
probably benign |
Het |
Tjp3 |
T |
A |
10: 81,113,888 (GRCm39) |
M457L |
possibly damaging |
Het |
Tmem200a |
T |
A |
10: 25,869,825 (GRCm39) |
H148L |
probably damaging |
Het |
Trappc8 |
A |
G |
18: 20,967,997 (GRCm39) |
|
probably null |
Het |
Txk |
T |
A |
5: 72,853,922 (GRCm39) |
T472S |
probably damaging |
Het |
Ubr4 |
T |
A |
4: 139,151,256 (GRCm39) |
M1897K |
probably damaging |
Het |
Uggt2 |
A |
G |
14: 119,298,788 (GRCm39) |
L391P |
probably damaging |
Het |
Uncx |
T |
C |
5: 139,533,302 (GRCm39) |
S456P |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,879,937 (GRCm39) |
Y3004C |
probably damaging |
Het |
Vps35l |
T |
C |
7: 118,393,798 (GRCm39) |
Y516H |
probably damaging |
Het |
Zbtb46 |
C |
T |
2: 181,033,224 (GRCm39) |
C479Y |
probably damaging |
Het |
Zc3h7a |
A |
T |
16: 10,968,469 (GRCm39) |
Y503* |
probably null |
Het |
Zdhhc13 |
T |
A |
7: 48,474,392 (GRCm39) |
L548Q |
possibly damaging |
Het |
Zfp236 |
T |
C |
18: 82,639,429 (GRCm39) |
M1225V |
probably benign |
Het |
Zfp280d |
T |
C |
9: 72,215,287 (GRCm39) |
F133L |
probably damaging |
Het |
Zfp503 |
A |
T |
14: 22,035,588 (GRCm39) |
C443S |
possibly damaging |
Het |
Zfyve26 |
T |
A |
12: 79,315,208 (GRCm39) |
I1423F |
possibly damaging |
Het |
|
Other mutations in Cad |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00821:Cad
|
APN |
5 |
31,218,828 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00908:Cad
|
APN |
5 |
31,216,398 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01068:Cad
|
APN |
5 |
31,219,114 (GRCm39) |
splice site |
probably benign |
|
IGL01638:Cad
|
APN |
5 |
31,224,958 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02483:Cad
|
APN |
5 |
31,218,170 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02499:Cad
|
APN |
5 |
31,226,948 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02691:Cad
|
APN |
5 |
31,212,638 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03002:Cad
|
APN |
5 |
31,212,330 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4696001:Cad
|
UTSW |
5 |
31,229,438 (GRCm39) |
missense |
probably damaging |
0.99 |
R0212:Cad
|
UTSW |
5 |
31,235,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R0317:Cad
|
UTSW |
5 |
31,229,665 (GRCm39) |
missense |
probably benign |
0.01 |
R0335:Cad
|
UTSW |
5 |
31,231,329 (GRCm39) |
unclassified |
probably benign |
|
R0401:Cad
|
UTSW |
5 |
31,231,330 (GRCm39) |
unclassified |
probably benign |
|
R0445:Cad
|
UTSW |
5 |
31,230,053 (GRCm39) |
missense |
probably benign |
0.08 |
R0494:Cad
|
UTSW |
5 |
31,234,856 (GRCm39) |
unclassified |
probably benign |
|
R0532:Cad
|
UTSW |
5 |
31,219,531 (GRCm39) |
splice site |
probably benign |
|
R0539:Cad
|
UTSW |
5 |
31,232,801 (GRCm39) |
splice site |
probably benign |
|
R0578:Cad
|
UTSW |
5 |
31,216,120 (GRCm39) |
missense |
probably benign |
0.01 |
R0590:Cad
|
UTSW |
5 |
31,219,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R0638:Cad
|
UTSW |
5 |
31,235,032 (GRCm39) |
missense |
probably damaging |
0.98 |
R0831:Cad
|
UTSW |
5 |
31,224,944 (GRCm39) |
missense |
probably damaging |
1.00 |
R1329:Cad
|
UTSW |
5 |
31,216,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R1513:Cad
|
UTSW |
5 |
31,226,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R1531:Cad
|
UTSW |
5 |
31,233,563 (GRCm39) |
missense |
probably benign |
0.14 |
R1763:Cad
|
UTSW |
5 |
31,218,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R1785:Cad
|
UTSW |
5 |
31,215,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R2131:Cad
|
UTSW |
5 |
31,215,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R2165:Cad
|
UTSW |
5 |
31,219,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R3103:Cad
|
UTSW |
5 |
31,219,018 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3113:Cad
|
UTSW |
5 |
31,231,481 (GRCm39) |
missense |
possibly damaging |
0.50 |
R3762:Cad
|
UTSW |
5 |
31,232,890 (GRCm39) |
splice site |
probably null |
|
R3847:Cad
|
UTSW |
5 |
31,218,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R3898:Cad
|
UTSW |
5 |
31,231,366 (GRCm39) |
missense |
probably benign |
0.06 |
R3943:Cad
|
UTSW |
5 |
31,229,729 (GRCm39) |
critical splice donor site |
probably null |
|
R4213:Cad
|
UTSW |
5 |
31,229,688 (GRCm39) |
missense |
probably benign |
0.01 |
R4458:Cad
|
UTSW |
5 |
31,218,570 (GRCm39) |
missense |
probably damaging |
1.00 |
R4562:Cad
|
UTSW |
5 |
31,215,477 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4629:Cad
|
UTSW |
5 |
31,227,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R4717:Cad
|
UTSW |
5 |
31,224,030 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4811:Cad
|
UTSW |
5 |
31,232,034 (GRCm39) |
missense |
probably benign |
0.02 |
R5044:Cad
|
UTSW |
5 |
31,212,365 (GRCm39) |
missense |
probably benign |
0.00 |
R5630:Cad
|
UTSW |
5 |
31,217,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R5660:Cad
|
UTSW |
5 |
31,234,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R6008:Cad
|
UTSW |
5 |
31,226,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R6029:Cad
|
UTSW |
5 |
31,212,327 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6073:Cad
|
UTSW |
5 |
31,219,906 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6240:Cad
|
UTSW |
5 |
31,230,322 (GRCm39) |
missense |
probably benign |
0.00 |
R6260:Cad
|
UTSW |
5 |
31,224,144 (GRCm39) |
missense |
probably null |
|
R7145:Cad
|
UTSW |
5 |
31,224,956 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7303:Cad
|
UTSW |
5 |
31,217,557 (GRCm39) |
critical splice donor site |
probably null |
|
R7352:Cad
|
UTSW |
5 |
31,215,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R7382:Cad
|
UTSW |
5 |
31,233,173 (GRCm39) |
missense |
probably benign |
|
R7387:Cad
|
UTSW |
5 |
31,219,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R7455:Cad
|
UTSW |
5 |
31,231,506 (GRCm39) |
missense |
probably damaging |
0.99 |
R7596:Cad
|
UTSW |
5 |
31,226,392 (GRCm39) |
missense |
probably benign |
|
R7627:Cad
|
UTSW |
5 |
31,217,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R7898:Cad
|
UTSW |
5 |
31,218,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R8022:Cad
|
UTSW |
5 |
31,226,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R8115:Cad
|
UTSW |
5 |
31,218,271 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8511:Cad
|
UTSW |
5 |
31,233,165 (GRCm39) |
missense |
probably benign |
0.00 |
R8523:Cad
|
UTSW |
5 |
31,215,450 (GRCm39) |
missense |
probably damaging |
0.98 |
R8690:Cad
|
UTSW |
5 |
31,232,500 (GRCm39) |
missense |
possibly damaging |
0.58 |
R8697:Cad
|
UTSW |
5 |
31,231,945 (GRCm39) |
missense |
probably benign |
0.06 |
R8698:Cad
|
UTSW |
5 |
31,234,819 (GRCm39) |
missense |
probably benign |
|
R8699:Cad
|
UTSW |
5 |
31,233,605 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8803:Cad
|
UTSW |
5 |
31,226,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R9262:Cad
|
UTSW |
5 |
31,225,009 (GRCm39) |
missense |
probably null |
|
R9272:Cad
|
UTSW |
5 |
31,218,576 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9287:Cad
|
UTSW |
5 |
31,230,000 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9314:Cad
|
UTSW |
5 |
31,234,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R9609:Cad
|
UTSW |
5 |
31,228,018 (GRCm39) |
critical splice donor site |
probably null |
|
R9665:Cad
|
UTSW |
5 |
31,229,703 (GRCm39) |
missense |
probably benign |
0.28 |
RF001:Cad
|
UTSW |
5 |
31,217,556 (GRCm39) |
critical splice donor site |
probably benign |
|
RF012:Cad
|
UTSW |
5 |
31,217,556 (GRCm39) |
critical splice donor site |
probably benign |
|
X0021:Cad
|
UTSW |
5 |
31,225,475 (GRCm39) |
missense |
probably null |
1.00 |
X0022:Cad
|
UTSW |
5 |
31,229,661 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Cad
|
UTSW |
5 |
31,232,472 (GRCm39) |
missense |
probably benign |
0.25 |
Z1177:Cad
|
UTSW |
5 |
31,225,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGTTCTCTGGACACGATAGGC -3'
(R):5'- GAAACCTCCCTGATTCTCTCGG -3'
Sequencing Primer
(F):5'- ACACGATAGGCCCATGTTCAGTG -3'
(R):5'- GTCTAGGTACTGTGTACTTTACCCAG -3'
|
Posted On |
2014-06-23 |