Incidental Mutation 'R8022:Cad'
| ID |
617438 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cad
|
| Ensembl Gene |
ENSMUSG00000013629 |
| Gene Name |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
| Synonyms |
2410008J01Rik |
| MMRRC Submission |
067461-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R8022 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
31212124-31235823 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 31226150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 1117
(V1117F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000013773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013773]
[ENSMUST00000200953]
[ENSMUST00000201182]
[ENSMUST00000201838]
[ENSMUST00000202795]
|
| AlphaFold |
B2RQC6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000013773
AA Change: V1117F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000013773
Gene: ENSMUSG00000013629
AA Change: V1117F
| 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: V1054F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144307
Gene: ENSMUSG00000013629
AA Change: V1054F
| 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: V1117F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144684
Gene: ENSMUSG00000013629
AA Change: V1117F
| 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: V1117F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144009
Gene: ENSMUSG00000013629
AA Change: V1117F
| 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: 99.6%
- 20x: 98.6%
|
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
T |
5: 114,361,915 (GRCm39) |
T1386S |
probably benign |
Het |
| AI661453 |
T |
G |
17: 47,777,161 (GRCm39) |
S296A |
unknown |
Het |
| Ambp |
G |
T |
4: 63,062,434 (GRCm39) |
N268K |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,614,332 (GRCm39) |
K2503E |
probably damaging |
Het |
| Ap1g1 |
C |
A |
8: 110,559,367 (GRCm39) |
R221S |
possibly damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,455,904 (GRCm39) |
|
probably null |
Het |
| Aspa |
A |
C |
11: 73,213,032 (GRCm39) |
N103K |
probably benign |
Het |
| Bend7 |
G |
A |
2: 4,757,590 (GRCm39) |
V211I |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,991,603 (GRCm39) |
M1383T |
probably benign |
Het |
| Cdh2 |
A |
G |
18: 16,723,358 (GRCm39) |
L856S |
probably damaging |
Het |
| Cdh20 |
T |
A |
1: 109,988,838 (GRCm39) |
S247T |
probably benign |
Het |
| Ces1b |
A |
G |
8: 93,795,943 (GRCm39) |
|
probably null |
Het |
| Chd7 |
T |
A |
4: 8,751,605 (GRCm39) |
V34E |
unknown |
Het |
| Clca3a2 |
A |
T |
3: 144,511,527 (GRCm39) |
F623I |
probably damaging |
Het |
| Cope |
T |
G |
8: 70,765,453 (GRCm39) |
M217R |
probably benign |
Het |
| Crim1 |
T |
A |
17: 78,622,984 (GRCm39) |
I394N |
possibly damaging |
Het |
| Crnkl1 |
A |
T |
2: 145,760,486 (GRCm39) |
I644N |
probably damaging |
Het |
| Cry1 |
G |
A |
10: 84,982,266 (GRCm39) |
A360V |
probably damaging |
Het |
| Ctcfl |
A |
T |
2: 172,960,559 (GRCm39) |
V8D |
probably benign |
Het |
| Cyp2d34 |
G |
A |
15: 82,500,315 (GRCm39) |
Q475* |
probably null |
Het |
| Cyp39a1 |
T |
C |
17: 44,057,468 (GRCm39) |
Y436H |
probably damaging |
Het |
| Cyp3a25 |
T |
A |
5: 145,914,478 (GRCm39) |
Q484L |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 30,986,971 (GRCm39) |
F3607S |
probably damaging |
Het |
| Dnali1 |
T |
A |
4: 124,959,323 (GRCm39) |
K23N |
possibly damaging |
Het |
| Ecel1 |
T |
C |
1: 87,081,052 (GRCm39) |
I313V |
probably benign |
Het |
| Ehhadh |
C |
A |
16: 21,596,570 (GRCm39) |
A53S |
probably benign |
Het |
| Epcam |
T |
C |
17: 87,953,736 (GRCm39) |
S277P |
probably benign |
Het |
| Fbxo10 |
T |
C |
4: 45,062,062 (GRCm39) |
I155V |
possibly damaging |
Het |
| Fgd6 |
A |
T |
10: 93,880,206 (GRCm39) |
K353N |
possibly damaging |
Het |
| Glce |
A |
T |
9: 61,967,873 (GRCm39) |
M426K |
probably benign |
Het |
| Glmp |
A |
T |
3: 88,233,827 (GRCm39) |
N228I |
probably damaging |
Het |
| Gm4787 |
C |
A |
12: 81,424,494 (GRCm39) |
V555F |
possibly damaging |
Het |
| Gm5114 |
T |
A |
7: 39,058,800 (GRCm39) |
H273L |
probably benign |
Het |
| Gzmg |
T |
A |
14: 56,394,903 (GRCm39) |
T122S |
probably benign |
Het |
| Hace1 |
T |
C |
10: 45,577,066 (GRCm39) |
V820A |
probably damaging |
Het |
| Igf2r |
T |
A |
17: 12,937,682 (GRCm39) |
D535V |
probably damaging |
Het |
| Kcnd3 |
A |
G |
3: 105,366,189 (GRCm39) |
M20V |
probably benign |
Het |
| Kcnn3 |
T |
G |
3: 89,517,010 (GRCm39) |
I473S |
possibly damaging |
Het |
| Klhl35 |
T |
A |
7: 99,122,446 (GRCm39) |
F94Y |
unknown |
Het |
| Kmt2c |
C |
T |
5: 25,486,678 (GRCm39) |
V4712I |
possibly damaging |
Het |
| Lepr |
A |
G |
4: 101,639,754 (GRCm39) |
E740G |
probably benign |
Het |
| Lmod3 |
T |
C |
6: 97,225,260 (GRCm39) |
D187G |
probably benign |
Het |
| Lsm3 |
C |
T |
6: 91,496,543 (GRCm39) |
H49Y |
probably benign |
Het |
| Lypd10 |
T |
A |
7: 24,413,599 (GRCm39) |
I205N |
possibly damaging |
Het |
| Magi1 |
T |
C |
6: 93,674,346 (GRCm39) |
S962G |
probably damaging |
Het |
| Man2b1 |
G |
A |
8: 85,822,242 (GRCm39) |
R782Q |
probably damaging |
Het |
| Mical2 |
A |
T |
7: 111,902,974 (GRCm39) |
K148N |
probably damaging |
Het |
| Nbeal1 |
C |
T |
1: 60,299,431 (GRCm39) |
Q1256* |
probably null |
Het |
| Ncam1 |
G |
T |
9: 49,476,192 (GRCm39) |
A299D |
possibly damaging |
Het |
| Ncapg |
A |
G |
5: 45,839,136 (GRCm39) |
D512G |
probably damaging |
Het |
| Nkiras2 |
A |
G |
11: 100,515,113 (GRCm39) |
N28D |
probably benign |
Het |
| Nprl2 |
A |
C |
9: 107,420,260 (GRCm39) |
K53T |
probably damaging |
Het |
| Nr4a3 |
T |
A |
4: 48,051,510 (GRCm39) |
I88N |
probably damaging |
Het |
| Oas3 |
A |
G |
5: 120,895,031 (GRCm39) |
I986T |
possibly damaging |
Het |
| Or6c76 |
A |
T |
10: 129,612,654 (GRCm39) |
L305F |
possibly damaging |
Het |
| Pcsk1 |
A |
T |
13: 75,247,412 (GRCm39) |
Y187F |
possibly damaging |
Het |
| Pgc |
A |
G |
17: 48,039,701 (GRCm39) |
T32A |
probably benign |
Het |
| Ranbp2 |
A |
C |
10: 58,321,683 (GRCm39) |
D2660A |
possibly damaging |
Het |
| Retreg1 |
A |
G |
15: 25,843,565 (GRCm39) |
R46G |
|
Het |
| Rrbp1 |
C |
A |
2: 143,798,712 (GRCm39) |
K1100N |
probably benign |
Het |
| Rsph10b |
A |
T |
5: 143,904,050 (GRCm39) |
T676S |
probably benign |
Het |
| Setdb1 |
A |
T |
3: 95,245,910 (GRCm39) |
F672I |
probably damaging |
Het |
| Setdb1 |
T |
A |
3: 95,254,396 (GRCm39) |
D195V |
probably damaging |
Het |
| Slc12a8 |
A |
G |
16: 33,445,456 (GRCm39) |
E450G |
probably benign |
Het |
| Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
| Slc25a12 |
A |
T |
2: 71,105,533 (GRCm39) |
V667E |
unknown |
Het |
| Slc39a3 |
T |
C |
10: 80,867,111 (GRCm39) |
T212A |
probably benign |
Het |
| Slc45a1 |
C |
T |
4: 150,722,766 (GRCm39) |
G373S |
possibly damaging |
Het |
| Snx11 |
G |
A |
11: 96,663,680 (GRCm39) |
T53M |
probably damaging |
Het |
| Snx33 |
A |
G |
9: 56,832,624 (GRCm39) |
F482L |
possibly damaging |
Het |
| Srebf2 |
C |
T |
15: 82,062,966 (GRCm39) |
R468C |
probably damaging |
Het |
| Stk32a |
C |
T |
18: 43,448,166 (GRCm39) |
Q382* |
probably null |
Het |
| Sun3 |
C |
A |
11: 8,973,376 (GRCm39) |
S167I |
probably damaging |
Het |
| Sycp2 |
A |
G |
2: 177,996,855 (GRCm39) |
L1116P |
probably damaging |
Het |
| Thbs4 |
T |
G |
13: 92,888,955 (GRCm39) |
T913P |
probably damaging |
Het |
| Trav8d-1 |
C |
T |
14: 53,016,284 (GRCm39) |
Q57* |
probably null |
Het |
| Trio |
C |
G |
15: 27,749,952 (GRCm39) |
V2250L |
probably benign |
Het |
| Unc119b |
A |
T |
5: 115,265,102 (GRCm39) |
I204N |
probably damaging |
Het |
| Usp4 |
A |
G |
9: 108,255,670 (GRCm39) |
E576G |
probably damaging |
Het |
| Uvssa |
T |
A |
5: 33,566,848 (GRCm39) |
L515Q |
probably damaging |
Het |
| Xkr8 |
T |
C |
4: 132,459,649 (GRCm39) |
Y43C |
probably damaging |
Het |
| Xpo6 |
G |
A |
7: 125,768,426 (GRCm39) |
L94F |
probably benign |
Het |
| Zbtb11 |
A |
G |
16: 55,826,383 (GRCm39) |
K804R |
probably damaging |
Het |
| Zfp616 |
A |
G |
11: 73,974,894 (GRCm39) |
R479G |
probably benign |
Het |
| Zfp661 |
T |
C |
2: 127,419,844 (GRCm39) |
T99A |
probably benign |
Het |
| Zfp839 |
A |
T |
12: 110,821,532 (GRCm39) |
Q115H |
probably damaging |
Het |
| Zyg11a |
C |
T |
4: 108,046,765 (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 |
|
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 |
|
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'- GAGAGCTCAGTGACCTTGAG -3'
(R):5'- GACAGGGTCATTTTCTCCTTGC -3'
Sequencing Primer
(F):5'- CTGGGGTCTGGCAGGAAG -3'
(R):5'- TGCCCTTTGGTGAAACAGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation