Incidental Mutation 'R8523:Cad'
| ID |
658641 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cad
|
| Ensembl Gene |
ENSMUSG00000013629 |
| Gene Name |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
| Synonyms |
2410008J01Rik |
| MMRRC Submission |
067948-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R8523 (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 31215450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 87
(V87A)
|
| 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: V87A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000013773
Gene: ENSMUSG00000013629
AA Change: V87A
| 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 |
possibly damaging
Transcript: ENSMUST00000200953
AA Change: V87A
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144307
Gene: ENSMUSG00000013629
AA Change: V87A
| 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 |
possibly damaging
Transcript: ENSMUST00000201182
AA Change: V87A
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000144684
Gene: ENSMUSG00000013629
AA Change: V87A
| 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 |
possibly damaging
Transcript: ENSMUST00000201838
AA Change: V87A
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144127
Gene: ENSMUSG00000013629
AA Change: V87A
| 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 |
possibly damaging
Transcript: ENSMUST00000202795
AA Change: V87A
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000144009
Gene: ENSMUSG00000013629
AA Change: V87A
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| Ammecr1l |
T |
C |
18: 31,905,152 (GRCm39) |
F131S |
probably damaging |
Het |
| Apbb1ip |
A |
C |
2: 22,709,648 (GRCm39) |
D35A |
unknown |
Het |
| Arhgap12 |
A |
T |
18: 6,111,976 (GRCm39) |
D129E |
probably benign |
Het |
| Arpc1b |
A |
G |
5: 145,061,492 (GRCm39) |
D163G |
probably damaging |
Het |
| Atxn7l1 |
A |
T |
12: 33,396,023 (GRCm39) |
T251S |
probably benign |
Het |
| Best1 |
T |
C |
19: 9,969,027 (GRCm39) |
I230V |
possibly damaging |
Het |
| Brca2 |
A |
G |
5: 150,483,613 (GRCm39) |
T2888A |
possibly damaging |
Het |
| Ccdc168 |
A |
T |
1: 44,099,994 (GRCm39) |
I368K |
possibly damaging |
Het |
| Ccdc39 |
C |
T |
3: 33,869,560 (GRCm39) |
|
probably null |
Het |
| Clcn1 |
T |
A |
6: 42,284,523 (GRCm39) |
C548* |
probably null |
Het |
| Col18a1 |
A |
G |
10: 76,890,068 (GRCm39) |
S1678P |
probably damaging |
Het |
| Col6a6 |
T |
C |
9: 105,651,987 (GRCm39) |
N1008S |
possibly damaging |
Het |
| Defb41 |
A |
T |
1: 18,321,519 (GRCm39) |
C32S |
possibly damaging |
Het |
| Dnah6 |
T |
C |
6: 73,072,171 (GRCm39) |
N2437S |
probably damaging |
Het |
| Drosha |
T |
C |
15: 12,834,408 (GRCm39) |
Y171H |
unknown |
Het |
| Ehd1 |
T |
C |
19: 6,344,613 (GRCm39) |
L291P |
probably damaging |
Het |
| Eif3c |
A |
T |
7: 126,147,069 (GRCm39) |
H734Q |
possibly damaging |
Het |
| Erich5 |
A |
T |
15: 34,471,502 (GRCm39) |
T244S |
probably benign |
Het |
| Fam186b |
T |
A |
15: 99,177,613 (GRCm39) |
H571L |
probably benign |
Het |
| Fer1l5 |
A |
G |
1: 36,426,271 (GRCm39) |
K360E |
probably benign |
Het |
| Fga |
A |
T |
3: 82,938,158 (GRCm39) |
I178F |
probably damaging |
Het |
| Gale |
A |
T |
4: 135,694,987 (GRCm39) |
T320S |
probably benign |
Het |
| Gm11232 |
A |
T |
4: 71,675,465 (GRCm39) |
S99T |
probably benign |
Het |
| Gpr137 |
C |
T |
19: 6,917,803 (GRCm39) |
W94* |
probably null |
Het |
| Grm7 |
T |
A |
6: 111,223,280 (GRCm39) |
M440K |
possibly damaging |
Het |
| Hacd4 |
A |
G |
4: 88,353,286 (GRCm39) |
F69L |
probably damaging |
Het |
| Hdac7 |
T |
A |
15: 97,706,251 (GRCm39) |
H304L |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,358,224 (GRCm39) |
I2435N |
probably benign |
Het |
| Itgb7 |
G |
A |
15: 102,124,957 (GRCm39) |
R755W |
probably damaging |
Het |
| Kdm3b |
G |
T |
18: 34,926,129 (GRCm39) |
A90S |
probably benign |
Het |
| Mcmdc2 |
G |
A |
1: 9,981,946 (GRCm39) |
M1I |
probably null |
Het |
| Mitd1 |
A |
G |
1: 37,918,639 (GRCm39) |
|
probably null |
Het |
| Myh10 |
A |
T |
11: 68,688,235 (GRCm39) |
Q1232L |
probably benign |
Het |
| Myo1a |
C |
A |
10: 127,547,027 (GRCm39) |
N362K |
probably damaging |
Het |
| N4bp1 |
G |
A |
8: 87,579,789 (GRCm39) |
T671I |
probably damaging |
Het |
| Nav3 |
A |
T |
10: 109,659,138 (GRCm39) |
D826E |
probably damaging |
Het |
| Negr1 |
C |
T |
3: 156,866,297 (GRCm39) |
T282M |
probably damaging |
Het |
| Notch1 |
G |
A |
2: 26,354,917 (GRCm39) |
H1837Y |
possibly damaging |
Het |
| Or2m12 |
A |
T |
16: 19,104,851 (GRCm39) |
V214E |
probably benign |
Het |
| Or52e19b |
A |
T |
7: 103,032,413 (GRCm39) |
F265L |
probably benign |
Het |
| Or5m13 |
T |
A |
2: 85,748,407 (GRCm39) |
I46N |
probably damaging |
Het |
| Or7e177 |
A |
G |
9: 20,212,093 (GRCm39) |
N200S |
probably benign |
Het |
| Pard6a |
T |
C |
8: 106,428,881 (GRCm39) |
C47R |
probably benign |
Het |
| Parp2 |
T |
C |
14: 51,057,247 (GRCm39) |
|
probably null |
Het |
| Pck1 |
C |
A |
2: 172,999,064 (GRCm39) |
A410D |
probably damaging |
Het |
| Pdzph1 |
G |
A |
17: 59,191,008 (GRCm39) |
L85F |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,279,873 (GRCm39) |
S1P |
probably damaging |
Het |
| Pld1 |
T |
A |
3: 28,140,025 (GRCm39) |
V615D |
probably damaging |
Het |
| Plekha7 |
T |
G |
7: 115,907,164 (GRCm39) |
I23L |
probably benign |
Het |
| Prkcz |
T |
G |
4: 155,346,968 (GRCm39) |
D388A |
probably damaging |
Het |
| Rab36 |
A |
G |
10: 74,888,335 (GRCm39) |
R260G |
probably benign |
Het |
| Reln |
C |
A |
5: 22,209,229 (GRCm39) |
R1116S |
probably damaging |
Het |
| Rskr |
A |
T |
11: 78,184,210 (GRCm39) |
M225L |
probably benign |
Het |
| Rundc3b |
T |
G |
5: 8,619,505 (GRCm39) |
K151Q |
probably damaging |
Het |
| Scaf11 |
A |
G |
15: 96,316,988 (GRCm39) |
S859P |
probably damaging |
Het |
| Slc25a32 |
C |
T |
15: 38,963,281 (GRCm39) |
R180H |
probably benign |
Het |
| Slc4a9 |
G |
A |
18: 36,665,196 (GRCm39) |
G443E |
possibly damaging |
Het |
| Slmap |
T |
A |
14: 26,150,965 (GRCm39) |
K534N |
probably damaging |
Het |
| Sncaip |
G |
A |
18: 52,971,088 (GRCm39) |
A3T |
probably damaging |
Het |
| Spata31d1c |
G |
T |
13: 65,180,991 (GRCm39) |
S30I |
probably damaging |
Het |
| Srrm1 |
A |
T |
4: 135,051,313 (GRCm39) |
V789E |
unknown |
Het |
| Srrm2 |
A |
T |
17: 24,027,489 (GRCm39) |
|
probably benign |
Het |
| St7l |
T |
C |
3: 104,775,373 (GRCm39) |
F83S |
probably damaging |
Het |
| Taf15 |
C |
T |
11: 83,375,678 (GRCm39) |
Q48* |
probably null |
Het |
| Tek |
A |
T |
4: 94,687,403 (GRCm39) |
D172V |
probably benign |
Het |
| Tmem232 |
T |
C |
17: 65,785,366 (GRCm39) |
Y198C |
probably damaging |
Het |
| Tns3 |
A |
T |
11: 8,398,779 (GRCm39) |
V1191E |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,067,088 (GRCm39) |
D1710G |
probably damaging |
Het |
| Trav16d-dv11 |
T |
C |
14: 53,285,122 (GRCm39) |
I66T |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,577,289 (GRCm39) |
T24535S |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,730,087 (GRCm39) |
L911* |
probably null |
Het |
| Ube4a |
A |
G |
9: 44,861,130 (GRCm39) |
S227P |
probably damaging |
Het |
| Ubqln1 |
T |
C |
13: 58,339,569 (GRCm39) |
T352A |
probably benign |
Het |
| Vmn1r174 |
C |
T |
7: 23,454,182 (GRCm39) |
P283S |
probably damaging |
Het |
| Vmn1r59 |
T |
C |
7: 5,457,053 (GRCm39) |
T236A |
probably damaging |
Het |
| Vmn2r3 |
T |
C |
3: 64,182,311 (GRCm39) |
I463V |
probably benign |
Het |
| Wdr95 |
A |
G |
5: 149,497,461 (GRCm39) |
D213G |
probably damaging |
Het |
| Zbtb49 |
T |
A |
5: 38,370,669 (GRCm39) |
H404L |
probably damaging |
Het |
| Zfp879 |
A |
G |
11: 50,728,757 (GRCm39) |
M79T |
probably benign |
Het |
| Zmiz2 |
G |
A |
11: 6,352,441 (GRCm39) |
C600Y |
probably 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 |
|
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'- CACGATAGGCCCATGTTCAG -3'
(R):5'- TTTGGGAAGCTACAGGAGGC -3'
Sequencing Primer
(F):5'- TTCTTGTGGGACAATGCAAAG -3'
(R):5'- TGGCTATATGATAACCCACCCTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation