Incidental Mutation 'R9665:Cad'
| ID |
727748 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cad
|
| Ensembl Gene |
ENSMUSG00000013629 |
| Gene Name |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
| Synonyms |
2410008J01Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R9665 (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 C
at 31229703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1458
(S1458P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000013773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013773]
[ENSMUST00000200953]
[ENSMUST00000201182]
[ENSMUST00000201838]
[ENSMUST00000202795]
[ENSMUST00000202973]
|
| AlphaFold |
B2RQC6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013773
AA Change: S1458P
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000013773
Gene: ENSMUSG00000013629
AA Change: S1458P
| 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 damaging
Transcript: ENSMUST00000200953
AA Change: S1395P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144307
Gene: ENSMUSG00000013629
AA Change: S1395P
| 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 damaging
Transcript: ENSMUST00000201182
AA Change: S1458P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144684
Gene: ENSMUSG00000013629
AA Change: S1458P
| 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: ENSMUST00000201838
|
| SMART Domains |
Protein: ENSMUSP00000144127
Gene: ENSMUSG00000013629
| 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: S1458P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144009
Gene: ENSMUSG00000013629
AA Change: S1458P
| 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
|
| SMART Domains |
Protein: ENSMUSP00000144679
Gene: ENSMUSG00000013629
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
T |
C |
14: 44,407,796 (GRCm39) |
E79G |
probably damaging |
Het |
| 4930583I09Rik |
T |
A |
17: 65,141,288 (GRCm39) |
Q78L |
unknown |
Het |
| 9330159F19Rik |
G |
T |
10: 29,103,344 (GRCm39) |
V642F |
probably benign |
Het |
| Abca9 |
T |
A |
11: 110,006,280 (GRCm39) |
Q1275L |
probably benign |
Het |
| Abca9 |
G |
T |
11: 110,006,281 (GRCm39) |
Q1275K |
probably benign |
Het |
| Ager |
C |
T |
17: 34,819,090 (GRCm39) |
P313S |
probably benign |
Het |
| Ap4m1 |
T |
A |
5: 138,171,273 (GRCm39) |
N98K |
probably benign |
Het |
| Arhgef12 |
T |
G |
9: 42,929,650 (GRCm39) |
K215T |
possibly damaging |
Het |
| Arhgef4 |
T |
C |
1: 34,849,518 (GRCm39) |
Y370H |
probably benign |
Het |
| Bcat1 |
T |
G |
6: 144,994,488 (GRCm39) |
H3P |
probably benign |
Het |
| Btnl6 |
T |
A |
17: 34,732,635 (GRCm39) |
Q313L |
probably benign |
Het |
| Cfap161 |
A |
G |
7: 83,442,579 (GRCm39) |
V78A |
probably benign |
Het |
| Chd2 |
C |
A |
7: 73,079,555 (GRCm39) |
A1782S |
probably benign |
Het |
| Cimip2b |
T |
A |
4: 43,427,554 (GRCm39) |
R257* |
probably null |
Het |
| Col4a3 |
A |
T |
1: 82,668,301 (GRCm39) |
T1042S |
unknown |
Het |
| Cramp1 |
A |
T |
17: 25,196,545 (GRCm39) |
N856K |
probably damaging |
Het |
| Crispld2 |
G |
A |
8: 120,760,316 (GRCm39) |
R414H |
probably benign |
Het |
| Ctsb |
T |
A |
14: 63,370,917 (GRCm39) |
|
probably null |
Het |
| Cyp2c69 |
T |
C |
19: 39,839,504 (GRCm39) |
D373G |
possibly damaging |
Het |
| Dnah3 |
A |
G |
7: 119,644,981 (GRCm39) |
V1100A |
probably benign |
Het |
| Dnajb6 |
A |
T |
5: 29,971,374 (GRCm39) |
L225F |
probably damaging |
Het |
| Dscc1 |
A |
T |
15: 54,946,837 (GRCm39) |
I296K |
unknown |
Het |
| Epb41l2 |
A |
G |
10: 25,317,798 (GRCm39) |
D105G |
probably benign |
Het |
| Evpl |
G |
A |
11: 116,123,497 (GRCm39) |
R292C |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,455,447 (GRCm39) |
I2032T |
probably damaging |
Het |
| Fryl |
T |
A |
5: 73,222,299 (GRCm39) |
D2094V |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,331,457 (GRCm39) |
S202G |
unknown |
Het |
| Hdgfl1 |
A |
T |
13: 26,953,812 (GRCm39) |
M87K |
probably benign |
Het |
| Htra3 |
T |
A |
5: 35,836,654 (GRCm39) |
I13F |
unknown |
Het |
| Igf2r |
T |
C |
17: 12,913,027 (GRCm39) |
N1774D |
probably benign |
Het |
| Ighj1 |
A |
T |
12: 113,393,446 (GRCm39) |
Y3N |
|
Het |
| Incenp |
T |
C |
19: 9,871,329 (GRCm39) |
H100R |
unknown |
Het |
| Klrb1c |
A |
G |
6: 128,760,625 (GRCm39) |
|
probably null |
Het |
| Lmbrd1 |
T |
A |
1: 24,732,065 (GRCm39) |
V94D |
probably damaging |
Het |
| Lmna |
A |
T |
3: 88,389,793 (GRCm39) |
S611T |
probably benign |
Het |
| Lsp1 |
A |
C |
7: 142,044,142 (GRCm39) |
I296L |
probably benign |
Het |
| Mdga1 |
A |
T |
17: 30,051,991 (GRCm39) |
I892N |
probably damaging |
Het |
| Micu3 |
A |
G |
8: 40,828,666 (GRCm39) |
E351G |
probably benign |
Het |
| Mrpl35 |
A |
G |
6: 71,795,704 (GRCm39) |
V61A |
probably benign |
Het |
| Nhsl1 |
A |
G |
10: 18,401,599 (GRCm39) |
K908E |
possibly damaging |
Het |
| Nlk |
A |
G |
11: 78,481,753 (GRCm39) |
L236P |
|
Het |
| Nwd1 |
T |
A |
8: 73,401,106 (GRCm39) |
H735Q |
probably damaging |
Het |
| Or1e1b-ps1 |
A |
T |
11: 73,845,656 (GRCm39) |
I47F |
probably benign |
Het |
| Or5d47 |
A |
G |
2: 87,804,596 (GRCm39) |
S138P |
possibly damaging |
Het |
| Or5w17 |
A |
T |
2: 87,583,671 (GRCm39) |
I222N |
probably damaging |
Het |
| Or7h8 |
T |
A |
9: 20,124,402 (GRCm39) |
Y252* |
probably null |
Het |
| Otof |
T |
A |
5: 30,584,895 (GRCm39) |
S70C |
probably benign |
Het |
| Pcdh20 |
A |
T |
14: 88,707,162 (GRCm39) |
V46D |
probably benign |
Het |
| Pjvk |
A |
G |
2: 76,487,827 (GRCm39) |
T240A |
probably benign |
Het |
| Pou2f1 |
A |
G |
1: 165,703,600 (GRCm39) |
S697P |
probably damaging |
Het |
| Prkn |
T |
A |
17: 11,286,062 (GRCm39) |
D18E |
possibly damaging |
Het |
| Prmt9 |
G |
A |
8: 78,307,267 (GRCm39) |
V739I |
probably benign |
Het |
| Prr14 |
A |
G |
7: 127,073,091 (GRCm39) |
D146G |
probably benign |
Het |
| Rai14 |
T |
G |
15: 10,574,803 (GRCm39) |
E747D |
probably damaging |
Het |
| Rapgef4 |
A |
T |
2: 72,036,018 (GRCm39) |
T504S |
probably benign |
Het |
| Rilpl2 |
C |
A |
5: 124,616,240 (GRCm39) |
|
probably benign |
Het |
| Ror2 |
A |
T |
13: 53,439,561 (GRCm39) |
M1K |
probably null |
Het |
| Shisa9 |
A |
G |
16: 12,085,446 (GRCm39) |
T352A |
probably benign |
Het |
| Slc35a4 |
A |
G |
18: 36,813,651 (GRCm39) |
N33S |
probably benign |
Het |
| Slx4 |
G |
T |
16: 3,806,890 (GRCm39) |
L518I |
probably benign |
Het |
| Speer1i |
A |
G |
5: 11,092,852 (GRCm39) |
K132R |
|
Het |
| Spon2 |
T |
C |
5: 33,374,702 (GRCm39) |
T35A |
probably benign |
Het |
| Syne3 |
A |
C |
12: 104,924,247 (GRCm39) |
L471R |
probably benign |
Het |
| Tas2r115 |
A |
G |
6: 132,714,390 (GRCm39) |
L187S |
probably benign |
Het |
| Tbc1d30 |
G |
T |
10: 121,102,886 (GRCm39) |
S715R |
possibly damaging |
Het |
| Tdrd1 |
A |
G |
19: 56,819,572 (GRCm39) |
E24G |
probably benign |
Het |
| Tekt2 |
C |
T |
4: 126,217,444 (GRCm39) |
R207H |
probably damaging |
Het |
| Tjp1 |
A |
G |
7: 64,962,644 (GRCm39) |
S1178P |
probably benign |
Het |
| Upf2 |
A |
G |
2: 6,051,715 (GRCm39) |
S1126G |
unknown |
Het |
| Vmn1r128 |
G |
T |
7: 21,083,362 (GRCm39) |
C22F |
probably damaging |
Het |
| Vmn2r95 |
G |
T |
17: 18,660,607 (GRCm39) |
V340F |
probably damaging |
Het |
| Vps13c |
A |
T |
9: 67,863,025 (GRCm39) |
K3014* |
probably null |
Het |
| Wdr75 |
T |
C |
1: 45,843,013 (GRCm39) |
V126A |
unknown |
Het |
| Yeats4 |
A |
T |
10: 117,053,343 (GRCm39) |
Y139* |
probably null |
Het |
| Zc3h13 |
A |
G |
14: 75,567,989 (GRCm39) |
D1094G |
probably damaging |
Het |
| Zfp143 |
C |
G |
7: 109,692,414 (GRCm39) |
I608M |
probably damaging |
Het |
| Zfp772 |
A |
T |
7: 7,212,793 (GRCm39) |
M1K |
probably null |
Het |
| Zfp827 |
A |
G |
8: 79,906,756 (GRCm39) |
M923V |
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 |
|
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 |
|
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 |
|
|
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'- CAGTAAAGCTTGGTGGCTCC -3'
(R):5'- CGTGGACATCAATCAATCCTAGG -3'
Sequencing Primer
(F):5'- CAGAGGCTGGGAGGTGGATG -3'
(R):5'- TCAATCAATCCTAGGAGAAAGTTGG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation