Incidental Mutation 'R6260:Cad'
| ID |
506611 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cad
|
| Ensembl Gene |
ENSMUSG00000013629 |
| Gene Name |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
| Synonyms |
2410008J01Rik |
| MMRRC Submission |
044377-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R6260 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31212124-31235823 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 31224144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 800
(M800I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013773]
[ENSMUST00000200953]
[ENSMUST00000201182]
[ENSMUST00000201838]
[ENSMUST00000202795]
|
| AlphaFold |
B2RQC6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000013773
AA Change: M800I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000013773
Gene: ENSMUSG00000013629
AA Change: M800I
| 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 null
Transcript: ENSMUST00000200953
AA Change: M737I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144307
Gene: ENSMUSG00000013629
AA Change: M737I
| 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 null
Transcript: ENSMUST00000201182
AA Change: M800I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144684
Gene: ENSMUSG00000013629
AA Change: M800I
| 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 |
noncoding transcript
Transcript: ENSMUST00000201256
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000201838
AA Change: M800I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144127
Gene: ENSMUSG00000013629
AA Change: M800I
| 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 |
noncoding transcript
Transcript: ENSMUST00000201870
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000202795
AA Change: M800I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144009
Gene: ENSMUSG00000013629
AA Change: M800I
| 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: ENSMUST00000202391
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202227
|
| Meta Mutation Damage Score |
0.1087 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
99% (77/78) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
A |
10: 79,844,821 (GRCm39) |
N1514K |
probably damaging |
Het |
| Abcb4 |
G |
T |
5: 8,984,219 (GRCm39) |
G650* |
probably null |
Het |
| Acsbg1 |
T |
A |
9: 54,535,751 (GRCm39) |
|
probably null |
Het |
| Alms1 |
A |
T |
6: 85,605,717 (GRCm39) |
K2456* |
probably null |
Het |
| Alppl2 |
A |
T |
1: 87,016,184 (GRCm39) |
M225K |
probably damaging |
Het |
| Ank2 |
C |
T |
3: 126,737,206 (GRCm39) |
V2806I |
probably benign |
Het |
| Atxn10 |
A |
T |
15: 85,346,612 (GRCm39) |
I457F |
probably benign |
Het |
| Carmil3 |
T |
A |
14: 55,737,889 (GRCm39) |
L815Q |
probably damaging |
Het |
| Ccz1 |
A |
G |
5: 143,940,859 (GRCm39) |
|
probably null |
Het |
| Cdc73 |
G |
A |
1: 143,567,211 (GRCm39) |
T104I |
probably benign |
Het |
| Cfap52 |
A |
T |
11: 67,829,780 (GRCm39) |
C330S |
possibly damaging |
Het |
| Clec16a |
C |
T |
16: 10,512,712 (GRCm39) |
|
probably benign |
Het |
| Cntn3 |
A |
G |
6: 102,254,178 (GRCm39) |
|
probably null |
Het |
| Crocc2 |
A |
G |
1: 93,141,360 (GRCm39) |
K1171R |
possibly damaging |
Het |
| Ctsa |
T |
C |
2: 164,676,281 (GRCm39) |
V86A |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Ddhd2 |
A |
G |
8: 26,242,144 (GRCm39) |
F244L |
probably benign |
Het |
| Ddn |
A |
G |
15: 98,703,735 (GRCm39) |
V519A |
possibly damaging |
Het |
| Dip2b |
G |
T |
15: 100,060,583 (GRCm39) |
V253L |
probably benign |
Het |
| Dnah17 |
C |
A |
11: 118,017,148 (GRCm39) |
W197C |
probably damaging |
Het |
| Dnah17 |
A |
T |
11: 118,017,150 (GRCm39) |
W197R |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 118,017,149 (GRCm39) |
W197* |
probably null |
Het |
| Ercc6 |
T |
A |
14: 32,279,813 (GRCm39) |
D609E |
probably benign |
Het |
| Erg |
C |
A |
16: 95,181,100 (GRCm39) |
R147L |
probably damaging |
Het |
| Fbxo41 |
A |
T |
6: 85,455,537 (GRCm39) |
L549H |
probably damaging |
Het |
| Foxd4 |
A |
G |
19: 24,876,968 (GRCm39) |
S411P |
probably benign |
Het |
| Gaa |
C |
A |
11: 119,171,997 (GRCm39) |
A700D |
probably benign |
Het |
| Galntl6 |
T |
A |
8: 58,337,515 (GRCm39) |
D135V |
probably damaging |
Het |
| Gm1043 |
G |
C |
5: 37,331,816 (GRCm39) |
G832A |
probably benign |
Het |
| Gm21103 |
C |
T |
14: 17,484,841 (GRCm39) |
E68K |
probably damaging |
Het |
| Gpam |
A |
G |
19: 55,071,838 (GRCm39) |
V301A |
probably benign |
Het |
| H2-M10.1 |
T |
A |
17: 36,634,994 (GRCm39) |
I304F |
unknown |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Jak3 |
C |
A |
8: 72,131,954 (GRCm39) |
Q177K |
probably benign |
Het |
| Kcnu1 |
G |
A |
8: 26,341,919 (GRCm39) |
R88H |
probably damaging |
Het |
| Kng1 |
A |
T |
16: 22,877,371 (GRCm39) |
I60F |
possibly damaging |
Het |
| Krt77 |
A |
T |
15: 101,772,807 (GRCm39) |
Y257* |
probably null |
Het |
| Lcor |
G |
T |
19: 41,570,810 (GRCm39) |
S1I |
possibly damaging |
Het |
| Lcor |
A |
T |
19: 41,570,809 (GRCm39) |
S1C |
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Map4k5 |
C |
A |
12: 69,878,336 (GRCm39) |
R355L |
probably benign |
Het |
| Mefv |
C |
T |
16: 3,530,898 (GRCm39) |
R498H |
probably benign |
Het |
| Mical3 |
A |
T |
6: 120,985,991 (GRCm39) |
L150Q |
probably damaging |
Het |
| Mtcl1 |
T |
A |
17: 66,650,536 (GRCm39) |
Q1340L |
probably damaging |
Het |
| Nfic |
A |
T |
10: 81,256,351 (GRCm39) |
C126* |
probably null |
Het |
| Nisch |
T |
A |
14: 30,899,085 (GRCm39) |
|
probably benign |
Het |
| Nt5dc3 |
A |
G |
10: 86,647,395 (GRCm39) |
Y130C |
probably damaging |
Het |
| Or2ag1b |
A |
T |
7: 106,288,079 (GRCm39) |
N286K |
probably damaging |
Het |
| Or4f15 |
C |
T |
2: 111,814,396 (GRCm39) |
V8I |
probably benign |
Het |
| Or6c65 |
C |
A |
10: 129,603,389 (GRCm39) |
T8K |
probably benign |
Het |
| Pcdhb12 |
T |
C |
18: 37,569,892 (GRCm39) |
V346A |
probably benign |
Het |
| Pla2g4a |
A |
G |
1: 149,733,238 (GRCm39) |
S504P |
probably benign |
Het |
| Plin2 |
G |
T |
4: 86,575,526 (GRCm39) |
A341D |
probably damaging |
Het |
| Plxnb2 |
A |
T |
15: 89,049,494 (GRCm39) |
I575N |
probably benign |
Het |
| Pnma8b |
T |
G |
7: 16,680,158 (GRCm39) |
W381G |
probably benign |
Het |
| Psma8 |
A |
G |
18: 14,854,324 (GRCm39) |
D68G |
probably damaging |
Het |
| Rcor3 |
G |
A |
1: 191,808,559 (GRCm39) |
H207Y |
probably benign |
Het |
| Rwdd2b |
C |
A |
16: 87,231,356 (GRCm39) |
G266V |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,490,449 (GRCm39) |
F3795S |
probably damaging |
Het |
| Slc28a2b |
A |
T |
2: 122,353,963 (GRCm39) |
I530F |
probably damaging |
Het |
| Sord |
T |
A |
2: 122,089,613 (GRCm39) |
|
probably null |
Het |
| Spdl1 |
T |
A |
11: 34,710,713 (GRCm39) |
N345I |
probably damaging |
Het |
| St8sia2 |
T |
A |
7: 73,626,441 (GRCm39) |
R42S |
possibly damaging |
Het |
| Syt9 |
G |
T |
7: 107,035,717 (GRCm39) |
V245F |
possibly damaging |
Het |
| Tbpl2 |
T |
A |
2: 23,984,898 (GRCm39) |
N82I |
possibly damaging |
Het |
| Tcerg1 |
T |
A |
18: 42,686,530 (GRCm39) |
Y696N |
probably damaging |
Het |
| Thsd7b |
A |
G |
1: 129,595,655 (GRCm39) |
T492A |
probably benign |
Het |
| Timm13 |
A |
C |
10: 80,736,135 (GRCm39) |
|
probably benign |
Het |
| Trdmt1 |
T |
A |
2: 13,524,870 (GRCm39) |
Q195L |
probably benign |
Het |
| Ttc27 |
T |
A |
17: 75,165,086 (GRCm39) |
V764D |
probably damaging |
Het |
| Ttc39d |
C |
A |
17: 80,524,076 (GRCm39) |
S245* |
probably null |
Het |
| Ttc41 |
A |
G |
10: 86,567,023 (GRCm39) |
E563G |
probably benign |
Het |
| Ttc41 |
A |
T |
10: 86,569,571 (GRCm39) |
T650S |
probably benign |
Het |
| U2surp |
A |
C |
9: 95,358,210 (GRCm39) |
L723R |
probably damaging |
Het |
| Ubqln3 |
G |
A |
7: 103,791,524 (GRCm39) |
Q189* |
probably null |
Het |
| Vezf1 |
A |
G |
11: 87,972,326 (GRCm39) |
N229S |
probably damaging |
Het |
| Vmn2r79 |
T |
A |
7: 86,686,365 (GRCm39) |
M582K |
probably benign |
Het |
| Zfp518a |
A |
G |
19: 40,902,567 (GRCm39) |
D832G |
probably benign |
Het |
| Zfyve28 |
T |
C |
5: 34,356,216 (GRCm39) |
N762D |
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 |
|
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 |
|
|
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'- CCAAAGATCAAGTGACTGCCATG -3'
(R):5'- CAAAGATCCGCTTATCCGTCGG -3'
Sequencing Primer
(F):5'- ATCAAGTGACTGCCATGAGTGTG -3'
(R):5'- TATCCGTCGGAGTCTCCAG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation