Incidental Mutation 'R7382:Cad'
| ID |
572788 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cad
|
| Ensembl Gene |
ENSMUSG00000013629 |
| Gene Name |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
| Synonyms |
2410008J01Rik |
| MMRRC Submission |
045464-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R7382 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31212124-31235823 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 31233173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 1872
(P1872T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000013773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013773]
[ENSMUST00000200953]
[ENSMUST00000201182]
[ENSMUST00000202795]
[ENSMUST00000202973]
|
| AlphaFold |
B2RQC6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013773
AA Change: P1872T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000013773
Gene: ENSMUSG00000013629
AA Change: P1872T
| 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 |
probably benign
Transcript: ENSMUST00000200953
AA Change: P1809T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144307
Gene: ENSMUSG00000013629
AA Change: P1809T
| 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 |
probably benign
Transcript: ENSMUST00000201182
AA Change: P1872T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144684
Gene: ENSMUSG00000013629
AA Change: P1872T
| 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 benign
Transcript: ENSMUST00000202795
AA Change: P1872T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144009
Gene: ENSMUSG00000013629
AA Change: P1872T
| 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 benign
Transcript: ENSMUST00000202973
AA Change: P162T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144679
Gene: ENSMUSG00000013629
AA Change: P162T
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gkra1
|
1 |
84 |
4e-28 |
SMART |
|
PDB:4C6N|A
|
1 |
119 |
4e-58 |
PDB |
|
low complexity region
|
156 |
170 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
99% (77/78) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
A |
T |
10: 78,903,103 (GRCm39) |
H404Q |
probably damaging |
Het |
| Aadacl2fm2 |
T |
A |
3: 59,651,037 (GRCm39) |
M53K |
probably benign |
Het |
| Adam8 |
T |
A |
7: 139,570,020 (GRCm39) |
T82S |
possibly damaging |
Het |
| Adgrl2 |
T |
G |
3: 148,522,919 (GRCm39) |
Q435P |
|
Het |
| Ahr |
A |
T |
12: 35,554,514 (GRCm39) |
M535K |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 53,188,954 (GRCm39) |
I2123V |
probably benign |
Het |
| Ankrd2 |
G |
T |
19: 42,033,411 (GRCm39) |
G318C |
|
Het |
| Ap4e1 |
T |
A |
2: 126,850,822 (GRCm39) |
|
probably null |
Het |
| Atp8a2 |
G |
A |
14: 59,892,043 (GRCm39) |
P1102S |
probably benign |
Het |
| Cacna2d4 |
C |
T |
6: 119,216,048 (GRCm39) |
S105F |
probably damaging |
Het |
| Catsperg1 |
A |
G |
7: 28,904,269 (GRCm39) |
F251L |
probably benign |
Het |
| Ccdc18 |
C |
A |
5: 108,286,873 (GRCm39) |
Q136K |
probably damaging |
Het |
| Cd163 |
A |
G |
6: 124,288,271 (GRCm39) |
|
probably null |
Het |
| Cd209d |
A |
T |
8: 3,927,965 (GRCm39) |
Y46* |
probably null |
Het |
| Cdk5rap2 |
A |
T |
4: 70,208,262 (GRCm39) |
M728K |
probably benign |
Het |
| Cdon |
A |
G |
9: 35,389,944 (GRCm39) |
D866G |
probably damaging |
Het |
| Cenpl |
A |
G |
1: 160,906,031 (GRCm39) |
H135R |
probably benign |
Het |
| Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
| Clstn2 |
A |
T |
9: 97,681,451 (GRCm39) |
L63* |
probably null |
Het |
| Cpeb4 |
A |
G |
11: 31,822,828 (GRCm39) |
T181A |
probably damaging |
Het |
| Dlgap1 |
A |
G |
17: 71,094,169 (GRCm39) |
E830G |
probably damaging |
Het |
| Endou |
T |
A |
15: 97,616,807 (GRCm39) |
K239* |
probably null |
Het |
| Ezh2 |
T |
C |
6: 47,528,770 (GRCm39) |
N263S |
possibly damaging |
Het |
| Fbxw2 |
T |
C |
2: 34,697,314 (GRCm39) |
D351G |
probably benign |
Het |
| Fer1l4 |
A |
T |
2: 155,862,669 (GRCm39) |
Y1720* |
probably null |
Het |
| Fmo9 |
A |
T |
1: 166,491,229 (GRCm39) |
|
probably null |
Het |
| Frmpd1 |
T |
A |
4: 45,278,880 (GRCm39) |
V535E |
probably benign |
Het |
| Fxr2 |
T |
C |
11: 69,532,382 (GRCm39) |
V139A |
probably benign |
Het |
| Gpr180 |
T |
G |
14: 118,400,035 (GRCm39) |
V401G |
possibly damaging |
Het |
| Heatr5b |
G |
T |
17: 79,110,936 (GRCm39) |
R971S |
possibly damaging |
Het |
| Igkv8-34 |
C |
A |
6: 70,021,103 (GRCm39) |
A120S |
probably benign |
Het |
| Inpp5b |
T |
A |
4: 124,645,370 (GRCm39) |
H219Q |
probably benign |
Het |
| Itprid1 |
G |
T |
6: 55,955,404 (GRCm39) |
G1004V |
probably benign |
Het |
| Kremen2 |
T |
C |
17: 23,962,526 (GRCm39) |
|
probably null |
Het |
| Mael |
G |
A |
1: 166,029,167 (GRCm39) |
P419S |
probably benign |
Het |
| Map1a |
A |
G |
2: 121,121,266 (GRCm39) |
T102A |
probably damaging |
Het |
| Mfsd2a |
A |
T |
4: 122,845,916 (GRCm39) |
I119N |
possibly damaging |
Het |
| Muc5b |
T |
C |
7: 141,412,685 (GRCm39) |
V1877A |
unknown |
Het |
| Myo5c |
A |
C |
9: 75,211,332 (GRCm39) |
S1733R |
probably damaging |
Het |
| Nelfcd |
T |
C |
2: 174,265,176 (GRCm39) |
V248A |
probably benign |
Het |
| Npc1 |
A |
T |
18: 12,334,763 (GRCm39) |
I663N |
probably damaging |
Het |
| Olig3 |
T |
A |
10: 19,232,413 (GRCm39) |
S13T |
unknown |
Het |
| Or1j17 |
G |
T |
2: 36,578,046 (GRCm39) |
E11* |
probably null |
Het |
| Or8k39 |
T |
C |
2: 86,563,129 (GRCm39) |
I276V |
probably benign |
Het |
| Piezo2 |
A |
C |
18: 63,150,590 (GRCm39) |
|
probably null |
Het |
| Pkd1l2 |
G |
T |
8: 117,781,610 (GRCm39) |
L812M |
possibly damaging |
Het |
| Plcd1 |
G |
A |
9: 118,903,759 (GRCm39) |
T387I |
probably damaging |
Het |
| Ppara |
C |
T |
15: 85,671,429 (GRCm39) |
S110L |
probably damaging |
Het |
| Ranbp9 |
C |
T |
13: 43,578,590 (GRCm39) |
R161Q |
probably damaging |
Het |
| Rufy2 |
G |
T |
10: 62,833,748 (GRCm39) |
R270L |
probably benign |
Het |
| Septin12 |
C |
T |
16: 4,806,346 (GRCm39) |
E272K |
probably damaging |
Het |
| Sgms1 |
T |
C |
19: 32,137,182 (GRCm39) |
E128G |
possibly damaging |
Het |
| Sh3bgr |
G |
A |
16: 96,007,093 (GRCm39) |
S21N |
probably benign |
Het |
| Sil1 |
A |
T |
18: 35,458,466 (GRCm39) |
D176E |
probably benign |
Het |
| Slc13a2 |
A |
T |
11: 78,295,621 (GRCm39) |
Y82N |
probably damaging |
Het |
| Slc41a1 |
C |
T |
1: 131,774,370 (GRCm39) |
P479L |
probably damaging |
Het |
| Smarca4 |
A |
G |
9: 21,570,229 (GRCm39) |
K744R |
probably damaging |
Het |
| Stxbp1 |
T |
C |
2: 32,688,180 (GRCm39) |
D495G |
probably damaging |
Het |
| Sugp2 |
T |
C |
8: 70,695,494 (GRCm39) |
S156P |
probably benign |
Het |
| Syt3 |
A |
T |
7: 44,042,170 (GRCm39) |
D343V |
probably damaging |
Het |
| Tbl3 |
G |
T |
17: 24,924,265 (GRCm39) |
T164N |
probably benign |
Het |
| Tbpl2 |
A |
T |
2: 23,977,326 (GRCm39) |
|
probably null |
Het |
| Tcf7l2 |
T |
A |
19: 55,915,172 (GRCm39) |
W461R |
unknown |
Het |
| Tmprss11c |
A |
T |
5: 86,379,723 (GRCm39) |
F395Y |
probably benign |
Het |
| Tnc |
A |
T |
4: 63,932,280 (GRCm39) |
Y711* |
probably null |
Het |
| Tnpo2 |
G |
A |
8: 85,776,748 (GRCm39) |
R485H |
probably damaging |
Het |
| Ttc41 |
A |
G |
10: 86,612,374 (GRCm39) |
K1216E |
probably damaging |
Het |
| Ube2q2 |
A |
C |
9: 55,070,298 (GRCm39) |
D80A |
probably damaging |
Het |
| Ube2u |
A |
T |
4: 100,389,379 (GRCm39) |
K227* |
probably null |
Het |
| Uhrf2 |
T |
C |
19: 30,048,788 (GRCm39) |
Y265H |
possibly damaging |
Het |
| Vmn1r208 |
T |
G |
13: 22,956,756 (GRCm39) |
Y247S |
probably damaging |
Het |
| Vmn2r27 |
A |
G |
6: 124,174,276 (GRCm39) |
C525R |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,596,849 (GRCm39) |
T3090A |
probably damaging |
Het |
| Whrn |
T |
C |
4: 63,336,573 (GRCm39) |
K674R |
probably benign |
Het |
| Zfp202 |
G |
T |
9: 40,122,801 (GRCm39) |
R521I |
probably damaging |
Het |
| Zfp433 |
T |
C |
10: 81,556,659 (GRCm39) |
V387A |
probably benign |
Het |
| Zpld1 |
T |
C |
16: 55,067,046 (GRCm39) |
|
probably null |
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 |
|
R1786: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 |
|
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'- TTTATGCCAGCTGGGAAGGC -3'
(R):5'- GGTGATGCCTGTCTAGGTAC -3'
Sequencing Primer
(F):5'- GGTTCCTCCCCATAGATGCTG -3'
(R):5'- ATGCCTGTCTAGGTACTGGTG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation