Incidental Mutation 'R1763:Cad'
| ID |
193185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cad
|
| Ensembl Gene |
ENSMUSG00000013629 |
| Gene Name |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
| Synonyms |
|
| MMRRC Submission |
039795-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R1763 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31054780-31078479 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 31060951 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 460
(V460I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013773]
[ENSMUST00000200953]
[ENSMUST00000201182]
[ENSMUST00000201838]
[ENSMUST00000202795]
|
| AlphaFold |
B2RQC6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000013773
AA Change: V460I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000013773
Gene: ENSMUSG00000013629
AA Change: V460I
| 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: V460I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144307
Gene: ENSMUSG00000013629
AA Change: V460I
| 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: V460I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144684
Gene: ENSMUSG00000013629
AA Change: V460I
| 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 damaging
Transcript: ENSMUST00000201838
AA Change: V460I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144127
Gene: ENSMUSG00000013629
AA Change: V460I
| 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 |
noncoding transcript
Transcript: ENSMUST00000201844
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202795
AA Change: V460I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144009
Gene: ENSMUSG00000013629
AA Change: V460I
| 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 |
noncoding transcript
Transcript: ENSMUST00000202967
|
| Meta Mutation Damage Score |
0.4634 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 92.0%
|
| Validation Efficiency |
98% (85/87) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
G |
A |
3: 122,110,681 |
V794M |
probably benign |
Het |
| Abca4 |
A |
T |
3: 122,163,830 |
T772S |
probably damaging |
Het |
| Acox3 |
G |
A |
5: 35,608,339 |
|
probably null |
Het |
| Adamts17 |
A |
G |
7: 67,147,715 |
N1060S |
probably damaging |
Het |
| Akap8l |
C |
T |
17: 32,332,483 |
R511H |
probably damaging |
Het |
| Als2 |
T |
C |
1: 59,174,991 |
Y1346C |
probably benign |
Het |
| Apol10b |
A |
T |
15: 77,585,015 |
F321I |
probably benign |
Het |
| Atp5f1 |
A |
G |
3: 105,951,589 |
|
probably null |
Het |
| Bloc1s5 |
A |
G |
13: 38,619,084 |
|
probably benign |
Het |
| Btbd9 |
T |
C |
17: 30,334,297 |
N397S |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 30,099,196 |
V1121A |
probably benign |
Het |
| Caprin2 |
A |
T |
6: 148,843,121 |
D935E |
probably damaging |
Het |
| Ccdc150 |
A |
T |
1: 54,354,636 |
K686N |
probably benign |
Het |
| Ccnt2 |
T |
C |
1: 127,799,406 |
F186L |
possibly damaging |
Het |
| Cd5l |
G |
A |
3: 87,367,880 |
|
probably null |
Het |
| Chrna7 |
A |
G |
7: 63,099,252 |
V494A |
probably benign |
Het |
| Clec2i |
T |
G |
6: 128,895,425 |
Y198* |
probably null |
Het |
| Col22a1 |
A |
G |
15: 72,007,176 |
V44A |
probably damaging |
Het |
| Cspg4 |
T |
A |
9: 56,886,979 |
I666N |
probably damaging |
Het |
| Cyp3a16 |
A |
T |
5: 145,465,031 |
|
probably null |
Het |
| Dlk1 |
G |
T |
12: 109,458,119 |
C102F |
probably damaging |
Het |
| Dscc1 |
CTGAATGAAT |
CTGAAT |
15: 55,080,176 |
|
probably benign |
Het |
| Dscc1 |
T |
A |
15: 55,084,139 |
H215L |
probably damaging |
Het |
| Dus1l |
C |
G |
11: 120,795,671 |
G15R |
probably benign |
Het |
| Eps8l1 |
G |
T |
7: 4,471,823 |
V268L |
probably benign |
Het |
| F2 |
A |
C |
2: 91,634,906 |
C104W |
probably damaging |
Het |
| F5 |
C |
A |
1: 164,192,535 |
Q860K |
probably benign |
Het |
| Fmn2 |
T |
C |
1: 174,502,266 |
L74P |
unknown |
Het |
| Frmd6 |
G |
A |
12: 70,893,622 |
R347Q |
possibly damaging |
Het |
| Gabbr1 |
T |
G |
17: 37,054,767 |
S158A |
probably damaging |
Het |
| Galc |
T |
C |
12: 98,234,266 |
N295S |
probably damaging |
Het |
| Gm436 |
A |
G |
4: 144,669,959 |
V401A |
probably benign |
Het |
| Gm6408 |
A |
T |
5: 146,482,322 |
N49I |
probably damaging |
Het |
| Grm1 |
T |
A |
10: 11,079,866 |
T225S |
possibly damaging |
Het |
| Grm8 |
C |
T |
6: 27,285,867 |
V849I |
possibly damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,314,590 |
D59G |
probably damaging |
Het |
| Iars |
G |
A |
13: 49,723,077 |
|
probably null |
Het |
| Ifi27 |
C |
T |
12: 103,437,682 |
A127V |
possibly damaging |
Het |
| Ikbip |
A |
G |
10: 91,096,481 |
N329S |
probably damaging |
Het |
| Ikbke |
T |
C |
1: 131,265,877 |
T479A |
probably benign |
Het |
| Krt12 |
T |
A |
11: 99,416,060 |
N472I |
probably damaging |
Het |
| Lmnb2 |
A |
T |
10: 80,907,191 |
L193Q |
probably damaging |
Het |
| Lrriq4 |
T |
C |
3: 30,650,252 |
V128A |
probably benign |
Het |
| Map4k4 |
C |
A |
1: 40,000,757 |
|
probably benign |
Het |
| Mtmr7 |
T |
C |
8: 40,551,811 |
T575A |
probably benign |
Het |
| Myh13 |
G |
A |
11: 67,334,576 |
A256T |
probably benign |
Het |
| Napepld |
A |
G |
5: 21,683,410 |
Y14H |
probably benign |
Het |
| Npr1 |
T |
C |
3: 90,459,337 |
T552A |
probably damaging |
Het |
| Nudt15 |
A |
G |
14: 73,521,647 |
F127S |
probably benign |
Het |
| Nwd2 |
T |
A |
5: 63,808,271 |
S1733T |
probably benign |
Het |
| Olfr1189 |
A |
G |
2: 88,592,436 |
I211V |
probably benign |
Het |
| Olfr1257 |
G |
A |
2: 89,881,129 |
G101E |
probably damaging |
Het |
| Olfr1348 |
T |
G |
7: 6,501,441 |
I262L |
probably benign |
Het |
| Olfr907 |
A |
G |
9: 38,499,038 |
Y123C |
probably damaging |
Het |
| Olfr96 |
T |
C |
17: 37,225,430 |
F102L |
probably benign |
Het |
| Paqr7 |
A |
T |
4: 134,507,098 |
I89F |
probably benign |
Het |
| Pidd1 |
C |
A |
7: 141,439,630 |
V706L |
probably benign |
Het |
| Polr3c |
A |
T |
3: 96,713,595 |
I469N |
probably damaging |
Het |
| Ppip5k1 |
A |
G |
2: 121,348,547 |
Y233H |
probably damaging |
Het |
| Psmc3 |
A |
G |
2: 91,055,995 |
T166A |
possibly damaging |
Het |
| Ptchd3 |
A |
T |
11: 121,842,542 |
I753L |
probably benign |
Het |
| Rad21 |
T |
C |
15: 51,978,170 |
K50R |
probably damaging |
Het |
| Rad54b |
A |
G |
4: 11,604,989 |
E479G |
possibly damaging |
Het |
| Rfwd3 |
C |
T |
8: 111,288,242 |
R326Q |
probably damaging |
Het |
| Rgs20 |
C |
T |
1: 4,910,640 |
R154Q |
probably damaging |
Het |
| Sbf1 |
T |
C |
15: 89,294,425 |
D1449G |
probably damaging |
Het |
| Sema4g |
C |
T |
19: 45,001,605 |
R708* |
probably null |
Het |
| Sept9 |
T |
C |
11: 117,290,428 |
I18T |
probably benign |
Het |
| Serpinb6b |
A |
G |
13: 32,978,058 |
E280G |
probably damaging |
Het |
| Slamf6 |
T |
C |
1: 171,942,587 |
|
probably benign |
Het |
| Slc6a21 |
G |
A |
7: 45,287,734 |
W554* |
probably null |
Het |
| Slco1a4 |
A |
C |
6: 141,812,731 |
I518R |
probably benign |
Het |
| Stab1 |
T |
A |
14: 31,168,416 |
Q26L |
probably benign |
Het |
| Stox1 |
A |
G |
10: 62,667,965 |
F104L |
probably damaging |
Het |
| Suco |
T |
C |
1: 161,834,949 |
K638E |
possibly damaging |
Het |
| Synpo |
T |
C |
18: 60,602,784 |
K458E |
probably damaging |
Het |
| Szt2 |
A |
T |
4: 118,372,368 |
W2820R |
unknown |
Het |
| Tmtc1 |
C |
A |
6: 148,294,618 |
G499W |
probably damaging |
Het |
| Tonsl |
A |
C |
15: 76,638,066 |
S242R |
probably damaging |
Het |
| Trpc4 |
G |
T |
3: 54,194,822 |
S47I |
possibly damaging |
Het |
| Zfp106 |
G |
A |
2: 120,520,428 |
R1581C |
probably benign |
Het |
| Zfp27 |
A |
G |
7: 29,895,376 |
L388P |
possibly damaging |
Het |
|
| Other mutations in Cad |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00821:Cad
|
APN |
5 |
31,061,484 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00908:Cad
|
APN |
5 |
31,059,054 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL01068:Cad
|
APN |
5 |
31,061,770 (GRCm38) |
splice site |
probably benign |
|
|
IGL01638:Cad
|
APN |
5 |
31,067,614 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02483:Cad
|
APN |
5 |
31,060,826 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL02499:Cad
|
APN |
5 |
31,069,604 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02691:Cad
|
APN |
5 |
31,055,294 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03002:Cad
|
APN |
5 |
31,054,986 (GRCm38) |
missense |
probably benign |
0.00 |
|
PIT4696001:Cad
|
UTSW |
5 |
31,072,094 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0212:Cad
|
UTSW |
5 |
31,078,110 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0317:Cad
|
UTSW |
5 |
31,072,321 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0335:Cad
|
UTSW |
5 |
31,073,985 (GRCm38) |
unclassified |
probably benign |
|
|
R0401:Cad
|
UTSW |
5 |
31,073,986 (GRCm38) |
unclassified |
probably benign |
|
|
R0445:Cad
|
UTSW |
5 |
31,072,709 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0494:Cad
|
UTSW |
5 |
31,077,512 (GRCm38) |
unclassified |
probably benign |
|
|
R0532:Cad
|
UTSW |
5 |
31,062,187 (GRCm38) |
splice site |
probably benign |
|
|
R0539:Cad
|
UTSW |
5 |
31,075,457 (GRCm38) |
splice site |
probably benign |
|
|
R0578:Cad
|
UTSW |
5 |
31,058,776 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0590:Cad
|
UTSW |
5 |
31,062,231 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0638:Cad
|
UTSW |
5 |
31,077,688 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0831:Cad
|
UTSW |
5 |
31,067,600 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1329:Cad
|
UTSW |
5 |
31,059,582 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1513:Cad
|
UTSW |
5 |
31,068,762 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1531:Cad
|
UTSW |
5 |
31,076,219 (GRCm38) |
missense |
probably benign |
0.14 |
|
R1785:Cad
|
UTSW |
5 |
31,058,072 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1786:Cad
|
UTSW |
5 |
31,058,072 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2131:Cad
|
UTSW |
5 |
31,058,072 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2165:Cad
|
UTSW |
5 |
31,062,220 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3103:Cad
|
UTSW |
5 |
31,061,674 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R3113:Cad
|
UTSW |
5 |
31,074,137 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R3762:Cad
|
UTSW |
5 |
31,075,546 (GRCm38) |
splice site |
probably null |
|
|
R3847:Cad
|
UTSW |
5 |
31,061,650 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3898:Cad
|
UTSW |
5 |
31,074,022 (GRCm38) |
missense |
probably benign |
0.06 |
|
R3943:Cad
|
UTSW |
5 |
31,072,385 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4213:Cad
|
UTSW |
5 |
31,072,344 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4458:Cad
|
UTSW |
5 |
31,061,226 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4562:Cad
|
UTSW |
5 |
31,058,133 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R4629:Cad
|
UTSW |
5 |
31,070,295 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4717:Cad
|
UTSW |
5 |
31,066,686 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4811:Cad
|
UTSW |
5 |
31,074,690 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5044:Cad
|
UTSW |
5 |
31,055,021 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5630:Cad
|
UTSW |
5 |
31,060,573 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5660:Cad
|
UTSW |
5 |
31,076,847 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6008:Cad
|
UTSW |
5 |
31,069,112 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6029:Cad
|
UTSW |
5 |
31,054,983 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R6073:Cad
|
UTSW |
5 |
31,062,562 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R6240:Cad
|
UTSW |
5 |
31,072,978 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6260:Cad
|
UTSW |
5 |
31,066,800 (GRCm38) |
missense |
probably null |
|
|
R7145:Cad
|
UTSW |
5 |
31,067,612 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R7303:Cad
|
UTSW |
5 |
31,060,213 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7352:Cad
|
UTSW |
5 |
31,058,078 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7382:Cad
|
UTSW |
5 |
31,075,829 (GRCm38) |
missense |
probably benign |
|
|
R7387:Cad
|
UTSW |
5 |
31,061,940 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7455:Cad
|
UTSW |
5 |
31,074,162 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7596:Cad
|
UTSW |
5 |
31,069,048 (GRCm38) |
missense |
probably benign |
|
|
R7627:Cad
|
UTSW |
5 |
31,060,164 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7898:Cad
|
UTSW |
5 |
31,061,485 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8022:Cad
|
UTSW |
5 |
31,068,806 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8115:Cad
|
UTSW |
5 |
31,060,927 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R8511:Cad
|
UTSW |
5 |
31,075,821 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8523:Cad
|
UTSW |
5 |
31,058,106 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8690:Cad
|
UTSW |
5 |
31,075,156 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R8697:Cad
|
UTSW |
5 |
31,074,601 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8698:Cad
|
UTSW |
5 |
31,077,475 (GRCm38) |
missense |
probably benign |
|
|
R8699:Cad
|
UTSW |
5 |
31,076,261 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R8803:Cad
|
UTSW |
5 |
31,069,564 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9262:Cad
|
UTSW |
5 |
31,067,665 (GRCm38) |
missense |
probably null |
|
|
R9272:Cad
|
UTSW |
5 |
31,061,232 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R9287:Cad
|
UTSW |
5 |
31,072,656 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R9314:Cad
|
UTSW |
5 |
31,077,644 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9609:Cad
|
UTSW |
5 |
31,070,674 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9665:Cad
|
UTSW |
5 |
31,072,359 (GRCm38) |
missense |
probably benign |
0.28 |
|
RF001:Cad
|
UTSW |
5 |
31,060,212 (GRCm38) |
critical splice donor site |
probably benign |
|
|
RF012:Cad
|
UTSW |
5 |
31,060,212 (GRCm38) |
critical splice donor site |
probably benign |
|
|
X0021:Cad
|
UTSW |
5 |
31,068,131 (GRCm38) |
missense |
probably null |
1.00 |
|
X0022:Cad
|
UTSW |
5 |
31,072,317 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1177:Cad
|
UTSW |
5 |
31,075,128 (GRCm38) |
missense |
probably benign |
0.25 |
|
Z1177:Cad
|
UTSW |
5 |
31,068,421 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCCTCCACGAAAGGTTCTAATCC -3'
(R):5'- CAGTCAGTTCAATGGTCTCCACGG -3'
Sequencing Primer
(F):5'- AAGAAGTGCCTAAGTCCTGTC -3'
(R):5'- CGTTCATTACGAATTACCTGAGGC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation