Incidental Mutation 'R7352:Cad'
| ID |
570632 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cad
|
| Ensembl Gene |
ENSMUSG00000013629 |
| Gene Name |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
| Synonyms |
2410008J01Rik |
| MMRRC Submission |
045438-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R7352 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
31212124-31235823 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31215422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 78
(S78T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000013773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013766]
[ENSMUST00000013773]
[ENSMUST00000200942]
[ENSMUST00000200953]
[ENSMUST00000201136]
[ENSMUST00000201182]
[ENSMUST00000201773]
[ENSMUST00000201838]
[ENSMUST00000202795]
|
| 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: S78T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000013773
Gene: ENSMUSG00000013629
AA Change: S78T
| 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: ENSMUST00000200748
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200942
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200953
AA Change: S78T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144307
Gene: ENSMUSG00000013629
AA Change: S78T
| 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: 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201182
AA Change: S78T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144684
Gene: ENSMUSG00000013629
AA Change: S78T
| 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: ENSMUST00000201773
|
| SMART Domains |
Protein: ENSMUSP00000144333
Gene: ENSMUSG00000013622
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201838
AA Change: S78T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144127
Gene: ENSMUSG00000013629
AA Change: S78T
| 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 |
probably damaging
Transcript: ENSMUST00000202795
AA Change: S78T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144009
Gene: ENSMUSG00000013629
AA Change: S78T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| 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: 100 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
C |
T |
17: 24,508,028 (GRCm39) |
W1124* |
probably null |
Het |
| Acap3 |
G |
A |
4: 155,990,168 (GRCm39) |
V783I |
possibly damaging |
Het |
| Alkbh8 |
A |
G |
9: 3,345,796 (GRCm39) |
K172R |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,429,998 (GRCm39) |
L860P |
probably damaging |
Het |
| Arap3 |
G |
A |
18: 38,106,331 (GRCm39) |
T1504I |
probably benign |
Het |
| Atad5 |
T |
C |
11: 79,994,169 (GRCm39) |
|
probably null |
Het |
| Atp8a2 |
A |
G |
14: 60,028,653 (GRCm39) |
V938A |
probably benign |
Het |
| AW551984 |
T |
C |
9: 39,504,221 (GRCm39) |
M582V |
probably benign |
Het |
| Axdnd1 |
C |
T |
1: 156,210,047 (GRCm39) |
V408I |
possibly damaging |
Het |
| Babam2 |
T |
A |
5: 32,164,594 (GRCm39) |
Y326* |
probably null |
Het |
| Baiap2l1 |
T |
C |
5: 144,261,436 (GRCm39) |
M20V |
probably benign |
Het |
| Bex6 |
A |
G |
16: 32,005,034 (GRCm39) |
|
probably benign |
Het |
| Bicc1 |
G |
T |
10: 70,783,730 (GRCm39) |
T469K |
probably benign |
Het |
| Ccdc171 |
T |
A |
4: 83,736,260 (GRCm39) |
D1210E |
possibly damaging |
Het |
| Ccnd1 |
T |
C |
7: 144,491,124 (GRCm39) |
I161V |
possibly damaging |
Het |
| Cdc42bpb |
A |
T |
12: 111,265,745 (GRCm39) |
F1396I |
probably damaging |
Het |
| Cep170 |
A |
T |
1: 176,597,423 (GRCm39) |
D373E |
probably benign |
Het |
| Chrna4 |
A |
T |
2: 180,679,267 (GRCm39) |
I60N |
probably damaging |
Het |
| Cntn2 |
T |
C |
1: 132,450,137 (GRCm39) |
T586A |
probably benign |
Het |
| Csmd2 |
G |
T |
4: 128,451,429 (GRCm39) |
V3396F |
|
Het |
| Cyp3a44 |
T |
A |
5: 145,740,498 (GRCm39) |
L47F |
probably benign |
Het |
| D7Ertd443e |
A |
T |
7: 133,951,123 (GRCm39) |
H183Q |
probably benign |
Het |
| Ddx27 |
T |
C |
2: 166,871,433 (GRCm39) |
V510A |
probably benign |
Het |
| Dgat1 |
G |
T |
15: 76,387,024 (GRCm39) |
C396* |
probably null |
Het |
| Dmpk |
A |
G |
7: 18,819,997 (GRCm39) |
S83G |
probably damaging |
Het |
| Dsc2 |
T |
G |
18: 20,168,392 (GRCm39) |
D689A |
probably benign |
Het |
| Eppk1 |
A |
T |
15: 75,990,618 (GRCm39) |
W2088R |
probably benign |
Het |
| Exph5 |
A |
C |
9: 53,287,022 (GRCm39) |
I1368L |
probably benign |
Het |
| Fadd |
T |
C |
7: 144,134,396 (GRCm39) |
K163R |
probably benign |
Het |
| Fam149a |
T |
A |
8: 45,794,034 (GRCm39) |
Q759L |
probably damaging |
Het |
| Foxo6 |
A |
T |
4: 120,125,448 (GRCm39) |
M449K |
probably benign |
Het |
| Gad1 |
T |
C |
2: 70,425,094 (GRCm39) |
F463L |
probably benign |
Het |
| Gad2 |
T |
A |
2: 22,513,835 (GRCm39) |
F91I |
probably benign |
Het |
| Gcc2 |
T |
C |
10: 58,116,520 (GRCm39) |
|
probably null |
Het |
| Gjd3 |
A |
C |
11: 102,691,278 (GRCm39) |
C242G |
probably damaging |
Het |
| Gkn1 |
T |
C |
6: 87,325,100 (GRCm39) |
E103G |
possibly damaging |
Het |
| Gm867 |
T |
C |
10: 75,775,670 (GRCm39) |
T39A |
probably benign |
Het |
| Gpr108 |
A |
G |
17: 57,543,944 (GRCm39) |
Y421H |
probably damaging |
Het |
| Gramd1b |
A |
C |
9: 40,219,289 (GRCm39) |
V508G |
probably damaging |
Het |
| Grm1 |
A |
T |
10: 10,595,237 (GRCm39) |
I797N |
probably damaging |
Het |
| Ice1 |
G |
A |
13: 70,754,221 (GRCm39) |
Q622* |
probably null |
Het |
| Kcnb2 |
T |
A |
1: 15,780,835 (GRCm39) |
V569E |
probably benign |
Het |
| Ksr2 |
T |
G |
5: 117,827,706 (GRCm39) |
I495S |
probably benign |
Het |
| Litaf |
A |
T |
16: 10,781,217 (GRCm39) |
M94K |
probably damaging |
Het |
| Lmod2 |
T |
C |
6: 24,598,110 (GRCm39) |
S77P |
possibly damaging |
Het |
| Lrp2 |
G |
T |
2: 69,302,741 (GRCm39) |
S2996Y |
probably benign |
Het |
| Ltf |
T |
C |
9: 110,857,518 (GRCm39) |
S436P |
probably benign |
Het |
| Map4k4 |
T |
A |
1: 40,001,387 (GRCm39) |
V58D |
unknown |
Het |
| Mapkapk3 |
C |
A |
9: 107,134,269 (GRCm39) |
D332Y |
possibly damaging |
Het |
| Mroh1 |
C |
A |
15: 76,335,674 (GRCm39) |
P1439Q |
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,224,737 (GRCm39) |
V841A |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 88,817,063 (GRCm39) |
M248V |
probably benign |
Het |
| Olig2 |
A |
G |
16: 91,023,577 (GRCm39) |
D97G |
probably benign |
Het |
| Or4a2 |
C |
A |
2: 89,248,311 (GRCm39) |
G149W |
probably damaging |
Het |
| Or4a39 |
T |
C |
2: 89,236,806 (GRCm39) |
M206V |
probably benign |
Het |
| Or4p8 |
T |
A |
2: 88,727,062 (GRCm39) |
N293I |
probably damaging |
Het |
| Or5b95 |
A |
G |
19: 12,658,115 (GRCm39) |
I214M |
possibly damaging |
Het |
| Or5g23 |
T |
C |
2: 85,439,128 (GRCm39) |
N42S |
probably damaging |
Het |
| Or6f2 |
A |
T |
7: 139,756,438 (GRCm39) |
Y135F |
probably damaging |
Het |
| Pcdha11 |
T |
A |
18: 37,139,898 (GRCm39) |
V509E |
probably damaging |
Het |
| Pglyrp3 |
G |
A |
3: 91,921,947 (GRCm39) |
W5* |
probably null |
Het |
| Phf14 |
A |
T |
6: 11,961,637 (GRCm39) |
N425Y |
probably damaging |
Het |
| Phf3 |
G |
T |
1: 30,843,407 (GRCm39) |
R1851S |
possibly damaging |
Het |
| Pigs |
A |
G |
11: 78,219,638 (GRCm39) |
T39A |
probably damaging |
Het |
| Plin4 |
A |
G |
17: 56,411,427 (GRCm39) |
M868T |
probably benign |
Het |
| Pnma2 |
A |
G |
14: 67,153,870 (GRCm39) |
Q98R |
possibly damaging |
Het |
| Ppp4r3a |
G |
A |
12: 101,008,091 (GRCm39) |
T782I |
probably damaging |
Het |
| Pramel52-ps |
A |
T |
5: 94,531,743 (GRCm39) |
N209I |
probably damaging |
Het |
| Prickle2 |
T |
G |
6: 92,387,871 (GRCm39) |
E566D |
probably benign |
Het |
| Pvr |
A |
G |
7: 19,644,541 (GRCm39) |
I331T |
possibly damaging |
Het |
| Ranbp3l |
A |
T |
15: 8,997,842 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
T |
A |
2: 72,010,435 (GRCm39) |
I331N |
probably damaging |
Het |
| Reg3g |
C |
T |
6: 78,443,842 (GRCm39) |
W122* |
probably null |
Het |
| Rigi |
T |
A |
4: 40,239,668 (GRCm39) |
Q10L |
probably benign |
Het |
| Rlbp1 |
A |
T |
7: 79,031,428 (GRCm39) |
I100N |
probably damaging |
Het |
| Rnf213 |
T |
A |
11: 119,334,405 (GRCm39) |
Y3206N |
|
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,133 (GRCm39) |
|
probably benign |
Het |
| Rtl6 |
G |
T |
15: 84,441,181 (GRCm39) |
R72S |
possibly damaging |
Het |
| Rufy3 |
T |
A |
5: 88,785,053 (GRCm39) |
D408E |
possibly damaging |
Het |
| Scn3a |
T |
C |
2: 65,356,045 (GRCm39) |
I230V |
possibly damaging |
Het |
| Slc23a4 |
A |
T |
6: 34,925,214 (GRCm39) |
I507N |
possibly damaging |
Het |
| Slc4a8 |
A |
G |
15: 100,688,865 (GRCm39) |
T392A |
probably damaging |
Het |
| Spaca7 |
T |
A |
8: 12,635,742 (GRCm39) |
I86K |
probably benign |
Het |
| Syt10 |
G |
T |
15: 89,698,659 (GRCm39) |
D228E |
probably benign |
Het |
| Tbx3 |
T |
A |
5: 119,815,625 (GRCm39) |
N308K |
probably benign |
Het |
| Telo2 |
A |
G |
17: 25,321,043 (GRCm39) |
V724A |
probably damaging |
Het |
| Tfip11 |
T |
C |
5: 112,481,134 (GRCm39) |
V370A |
probably benign |
Het |
| Thbs3 |
A |
G |
3: 89,132,587 (GRCm39) |
E843G |
probably benign |
Het |
| Tmprss11g |
T |
C |
5: 86,644,401 (GRCm39) |
I148V |
not run |
Het |
| Trbv14 |
T |
A |
6: 41,112,429 (GRCm39) |
D75E |
possibly damaging |
Het |
| Trio |
A |
G |
15: 27,732,962 (GRCm39) |
V2973A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,624,828 (GRCm39) |
D15250G |
probably damaging |
Het |
| Ubr2 |
G |
A |
17: 47,241,352 (GRCm39) |
T1734I |
probably benign |
Het |
| Ush2a |
G |
T |
1: 188,198,321 (GRCm39) |
A1462S |
probably benign |
Het |
| Ushbp1 |
T |
G |
8: 71,841,525 (GRCm39) |
T435P |
possibly damaging |
Het |
| Vps13c |
T |
C |
9: 67,747,728 (GRCm39) |
V7A |
possibly damaging |
Het |
| Wnk4 |
T |
C |
11: 101,155,244 (GRCm39) |
V385A |
probably damaging |
Het |
| Wnt2b |
C |
T |
3: 104,854,493 (GRCm39) |
V322I |
probably benign |
Het |
| Zbtb8a |
C |
T |
4: 129,253,874 (GRCm39) |
V207M |
probably benign |
Het |
| Zc3hav1l |
A |
G |
6: 38,275,916 (GRCm39) |
M87T |
probably benign |
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 |
|
|
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'- TGTTCTCTGGACACGATAGGC -3'
(R):5'- AGAAACCTCCCTGATTCTCTCG -3'
Sequencing Primer
(F):5'- ACACGATAGGCCCATGTTCAGTG -3'
(R):5'- GGTCTAGGTACTGTGTACTTTACCC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation