Incidental Mutation 'R7387:Cad'
| ID |
573163 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cad
|
| Ensembl Gene |
ENSMUSG00000013629 |
| Gene Name |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
| Synonyms |
2410008J01Rik |
| MMRRC Submission |
045469-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R7387 (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 31219284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 669
(Y669H)
|
| 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: Y669H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000013773
Gene: ENSMUSG00000013629
AA Change: Y669H
| 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: ENSMUST00000200953
|
| SMART Domains |
Protein: ENSMUSP00000144307
Gene: ENSMUSG00000013629
| 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: Y669H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144684
Gene: ENSMUSG00000013629
AA Change: Y669H
| 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: Y669H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144127
Gene: ENSMUSG00000013629
AA Change: Y669H
| 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: Y669H
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144009
Gene: ENSMUSG00000013629
AA Change: Y669H
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522H14Rik |
A |
G |
4: 109,362,774 (GRCm39) |
Y182H |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,093,246 (GRCm39) |
V1009A |
probably benign |
Het |
| Abcg2 |
A |
T |
6: 58,666,609 (GRCm39) |
I573F |
possibly damaging |
Het |
| Adck1 |
A |
G |
12: 88,427,822 (GRCm39) |
T480A |
probably benign |
Het |
| Adcy5 |
T |
C |
16: 35,092,460 (GRCm39) |
I607T |
probably damaging |
Het |
| Add2 |
A |
G |
6: 86,062,997 (GRCm39) |
K52E |
probably damaging |
Het |
| Arid4a |
T |
A |
12: 71,134,270 (GRCm39) |
S1191T |
probably damaging |
Het |
| Atg2a |
G |
T |
19: 6,305,198 (GRCm39) |
C1207F |
possibly damaging |
Het |
| Atg2b |
T |
C |
12: 105,589,034 (GRCm39) |
D1875G |
probably damaging |
Het |
| B3gntl1 |
A |
G |
11: 121,520,741 (GRCm39) |
L224P |
possibly damaging |
Het |
| BC035947 |
A |
G |
1: 78,475,098 (GRCm39) |
V478A |
possibly damaging |
Het |
| Cachd1 |
T |
C |
4: 100,634,375 (GRCm39) |
V17A |
unknown |
Het |
| Ccdc110 |
A |
T |
8: 46,395,233 (GRCm39) |
M375L |
probably benign |
Het |
| Cdc6 |
C |
T |
11: 98,799,042 (GRCm39) |
|
probably benign |
Het |
| Cdhr4 |
T |
A |
9: 107,874,111 (GRCm39) |
Y72* |
probably null |
Het |
| Cenpe |
T |
G |
3: 134,952,798 (GRCm39) |
M1496R |
probably benign |
Het |
| Clec4a1 |
T |
G |
6: 122,899,016 (GRCm39) |
C28W |
possibly damaging |
Het |
| Cma2 |
A |
G |
14: 56,210,505 (GRCm39) |
N120S |
probably benign |
Het |
| Cped1 |
A |
T |
6: 22,059,933 (GRCm39) |
I200L |
probably benign |
Het |
| Cpsf1 |
A |
T |
15: 76,486,766 (GRCm39) |
S257T |
possibly damaging |
Het |
| Dnah6 |
G |
A |
6: 73,189,595 (GRCm39) |
Q18* |
probably null |
Het |
| Dpp10 |
T |
C |
1: 123,268,869 (GRCm39) |
E720G |
probably benign |
Het |
| Dus2 |
G |
A |
8: 106,772,619 (GRCm39) |
R243Q |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,157,932 (GRCm39) |
N769S |
possibly damaging |
Het |
| Ece1 |
T |
A |
4: 137,666,095 (GRCm39) |
I313N |
possibly damaging |
Het |
| Ern1 |
A |
T |
11: 106,312,778 (GRCm39) |
V201E |
probably damaging |
Het |
| Exoc3l |
A |
G |
8: 106,021,605 (GRCm39) |
L141P |
probably damaging |
Het |
| Fam168b |
G |
A |
1: 34,858,789 (GRCm39) |
T131M |
probably damaging |
Het |
| Fez1 |
T |
C |
9: 36,779,108 (GRCm39) |
F262L |
probably damaging |
Het |
| H2-DMa |
T |
C |
17: 34,357,101 (GRCm39) |
Y200H |
probably damaging |
Het |
| H2-Eb1 |
T |
A |
17: 34,533,207 (GRCm39) |
V143D |
probably damaging |
Het |
| Ighv1-39 |
G |
A |
12: 114,878,488 (GRCm39) |
P28S |
probably benign |
Het |
| Inka1 |
C |
T |
9: 107,861,626 (GRCm39) |
R230H |
probably damaging |
Het |
| Iqgap1 |
C |
T |
7: 80,370,738 (GRCm39) |
V1544I |
probably benign |
Het |
| Itga10 |
A |
T |
3: 96,560,094 (GRCm39) |
Q536L |
probably benign |
Het |
| Itih2 |
C |
T |
2: 10,135,319 (GRCm39) |
E24K |
possibly damaging |
Het |
| Itsn2 |
A |
T |
12: 4,689,781 (GRCm39) |
N618I |
probably damaging |
Het |
| Kcnd2 |
T |
A |
6: 21,216,777 (GRCm39) |
S160R |
probably benign |
Het |
| Kif11 |
T |
A |
19: 37,398,204 (GRCm39) |
F677I |
probably damaging |
Het |
| Ldlrad2 |
C |
T |
4: 137,301,828 (GRCm39) |
C18Y |
probably damaging |
Het |
| Lrp4 |
T |
C |
2: 91,306,959 (GRCm39) |
V360A |
probably benign |
Het |
| Lrrtm2 |
T |
C |
18: 35,346,025 (GRCm39) |
T426A |
probably damaging |
Het |
| Mcidas |
T |
C |
13: 113,130,622 (GRCm39) |
F40L |
probably benign |
Het |
| Med27 |
T |
A |
2: 29,303,419 (GRCm39) |
L123Q |
possibly damaging |
Het |
| Mettl2 |
T |
C |
11: 105,023,364 (GRCm39) |
V249A |
probably benign |
Het |
| Mllt6 |
C |
A |
11: 97,565,426 (GRCm39) |
A592D |
probably benign |
Het |
| Mrps5 |
C |
T |
2: 127,442,804 (GRCm39) |
T291I |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,553,016 (GRCm39) |
T4426S |
probably benign |
Het |
| Myh1 |
A |
T |
11: 67,099,715 (GRCm39) |
M542L |
probably benign |
Het |
| Nlrp12 |
G |
T |
7: 3,289,831 (GRCm39) |
A227D |
probably damaging |
Het |
| Nlrp14 |
T |
C |
7: 106,782,314 (GRCm39) |
Y504H |
probably damaging |
Het |
| Nr1i2 |
T |
C |
16: 38,086,442 (GRCm39) |
S8G |
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 59,133,793 (GRCm39) |
K524R |
probably damaging |
Het |
| Nup210 |
C |
T |
6: 90,998,378 (GRCm39) |
|
probably null |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or4c100 |
T |
A |
2: 88,356,744 (GRCm39) |
Y272* |
probably null |
Het |
| Or52e4 |
T |
A |
7: 104,706,297 (GRCm39) |
Y281* |
probably null |
Het |
| Or5h27 |
A |
T |
16: 59,006,699 (GRCm39) |
I49N |
probably damaging |
Het |
| Patl1 |
A |
G |
19: 11,911,094 (GRCm39) |
I525M |
probably benign |
Het |
| Pcnx3 |
A |
G |
19: 5,723,364 (GRCm39) |
L1277P |
probably benign |
Het |
| Pelp1 |
G |
A |
11: 70,287,425 (GRCm39) |
T461I |
probably damaging |
Het |
| Phf20 |
T |
C |
2: 156,136,160 (GRCm39) |
C660R |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,851,203 (GRCm39) |
Y1193F |
|
Het |
| Pknox2 |
G |
T |
9: 36,868,364 (GRCm39) |
|
probably benign |
Het |
| Pml |
T |
C |
9: 58,137,177 (GRCm39) |
T541A |
probably benign |
Het |
| Prss35 |
C |
T |
9: 86,637,974 (GRCm39) |
T248I |
probably damaging |
Het |
| Rccd1 |
T |
A |
7: 79,970,350 (GRCm39) |
N89I |
probably benign |
Het |
| Rcor3 |
T |
C |
1: 191,821,824 (GRCm39) |
|
probably benign |
Het |
| Rreb1 |
A |
G |
13: 38,131,040 (GRCm39) |
E16G |
unknown |
Het |
| Scgb2b12 |
T |
A |
7: 32,026,060 (GRCm39) |
H44L |
probably benign |
Het |
| Sec23ip |
C |
T |
7: 128,346,727 (GRCm39) |
|
probably benign |
Het |
| Sgsm1 |
A |
C |
5: 113,411,566 (GRCm39) |
F720C |
probably damaging |
Het |
| Slc25a51 |
A |
T |
4: 45,399,841 (GRCm39) |
F116L |
possibly damaging |
Het |
| Spats2l |
T |
C |
1: 57,941,293 (GRCm39) |
V253A |
probably damaging |
Het |
| Spopl |
A |
T |
2: 23,427,521 (GRCm39) |
F204I |
probably benign |
Het |
| Sqle |
G |
A |
15: 59,202,603 (GRCm39) |
R519Q |
probably benign |
Het |
| Stil |
T |
G |
4: 114,881,233 (GRCm39) |
H592Q |
probably benign |
Het |
| Strip1 |
T |
A |
3: 107,533,046 (GRCm39) |
S201C |
probably damaging |
Het |
| Tcp11l1 |
C |
A |
2: 104,530,275 (GRCm39) |
A70S |
possibly damaging |
Het |
| Tmem163 |
T |
C |
1: 127,447,180 (GRCm39) |
|
probably null |
Het |
| Tmem184c |
A |
T |
8: 78,324,559 (GRCm39) |
Y310* |
probably null |
Het |
| Tmem30c |
T |
C |
16: 57,090,386 (GRCm39) |
N274D |
probably benign |
Het |
| Trim30c |
T |
A |
7: 104,039,397 (GRCm39) |
I133F |
probably damaging |
Het |
| Vars1 |
C |
T |
17: 35,223,768 (GRCm39) |
Q228* |
probably null |
Het |
| Zdbf2 |
G |
A |
1: 63,343,198 (GRCm39) |
V526I |
possibly damaging |
Het |
| Zfp819 |
T |
G |
7: 43,262,065 (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 |
|
|
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'- CCCCACTTGTAGGTATGCAAC -3'
(R):5'- CTGACACCTGGCCTAGAAAAG -3'
Sequencing Primer
(F):5'- CCACTTGTAGGTATGCAACATGGAG -3'
(R):5'- AATGATTGGGCCTCTACCAGG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation