Incidental Mutation 'R7720:Cped1'
| ID |
595167 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cped1
|
| Ensembl Gene |
ENSMUSG00000062980 |
| Gene Name |
cadherin-like and PC-esterase domain containing 1 |
| Synonyms |
A430107O13Rik |
| MMRRC Submission |
067892-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R7720 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
21985915-22256403 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 22222430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 730
(C730Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115383]
|
| AlphaFold |
B2RX70 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115383
AA Change: C730Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111041
Gene: ENSMUSG00000062980
AA Change: C730Y
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
147 |
N/A |
INTRINSIC |
|
Pfam:Cadherin-like
|
574 |
663 |
1e-9 |
PFAM |
|
Pfam:PC-Esterase
|
753 |
1018 |
2e-26 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000119808
Gene: ENSMUSG00000062980
AA Change: C592Y
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
147 |
N/A |
INTRINSIC |
|
Pfam:Cadherin-like
|
570 |
663 |
6.2e-12 |
PFAM |
|
Pfam:PC-Esterase
|
753 |
963 |
1.6e-33 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap2 |
A |
G |
10: 126,926,957 (GRCm39) |
D1018G |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,433,539 (GRCm39) |
N237S |
possibly damaging |
Het |
| Card6 |
G |
T |
15: 5,127,905 (GRCm39) |
Q1164K |
unknown |
Het |
| Ccdc202 |
A |
G |
14: 96,119,548 (GRCm39) |
R102G |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 15,981,108 (GRCm39) |
L2770Q |
probably damaging |
Het |
| Ctsw |
T |
C |
19: 5,517,072 (GRCm39) |
T87A |
probably damaging |
Het |
| Dock4 |
T |
C |
12: 40,856,974 (GRCm39) |
I1269T |
probably damaging |
Het |
| F11 |
T |
C |
8: 45,705,127 (GRCm39) |
E138G |
possibly damaging |
Het |
| Fam124b |
A |
G |
1: 80,177,974 (GRCm39) |
S342P |
probably damaging |
Het |
| Garin2 |
T |
C |
12: 78,758,907 (GRCm39) |
S76P |
probably damaging |
Het |
| Gipr |
T |
C |
7: 18,896,884 (GRCm39) |
I129V |
probably benign |
Het |
| Gria4 |
A |
T |
9: 4,464,288 (GRCm39) |
V558D |
probably damaging |
Het |
| Gsdme |
C |
T |
6: 50,206,288 (GRCm39) |
G185E |
probably damaging |
Het |
| Hapstr1 |
T |
A |
16: 8,660,966 (GRCm39) |
C148S |
probably damaging |
Het |
| Hgd |
T |
A |
16: 37,413,797 (GRCm39) |
D86E |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,522,460 (GRCm39) |
H3480L |
probably benign |
Het |
| Hs2st1 |
T |
C |
3: 144,159,783 (GRCm39) |
N127D |
probably damaging |
Het |
| Ilf3 |
A |
G |
9: 21,310,833 (GRCm39) |
N599S |
possibly damaging |
Het |
| Itsn1 |
G |
A |
16: 91,664,971 (GRCm39) |
G1132R |
unknown |
Het |
| Jakmip2 |
A |
G |
18: 43,704,973 (GRCm39) |
S343P |
possibly damaging |
Het |
| Kif1b |
A |
G |
4: 149,266,812 (GRCm39) |
V1670A |
probably benign |
Het |
| Lman2 |
A |
T |
13: 55,500,890 (GRCm39) |
|
probably null |
Het |
| Ltbp1 |
A |
T |
17: 75,692,119 (GRCm39) |
Y1579F |
probably damaging |
Het |
| Mon2 |
G |
A |
10: 122,868,493 (GRCm39) |
A520V |
probably benign |
Het |
| Mrpl10 |
T |
G |
11: 96,938,363 (GRCm39) |
V171G |
possibly damaging |
Het |
| Mrps27 |
A |
T |
13: 99,537,838 (GRCm39) |
T153S |
unknown |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Nlrp10 |
A |
G |
7: 108,523,695 (GRCm39) |
V595A |
probably benign |
Het |
| Nol4 |
A |
T |
18: 23,173,080 (GRCm39) |
M7K |
probably benign |
Het |
| Oasl1 |
G |
A |
5: 115,067,980 (GRCm39) |
S188N |
probably damaging |
Het |
| Or2d3c |
C |
A |
7: 106,526,618 (GRCm39) |
G16V |
probably benign |
Het |
| Or5h25 |
T |
C |
16: 58,930,134 (GRCm39) |
I280V |
probably benign |
Het |
| Pcdhga2 |
A |
G |
18: 37,802,993 (GRCm39) |
Y279C |
probably damaging |
Het |
| Pfpl |
C |
T |
19: 12,406,538 (GRCm39) |
A263V |
probably benign |
Het |
| Phf3 |
T |
G |
1: 30,868,938 (GRCm39) |
K703N |
probably damaging |
Het |
| Pik3ca |
C |
G |
3: 32,490,367 (GRCm39) |
P5A |
probably damaging |
Het |
| Plekha6 |
T |
C |
1: 133,221,445 (GRCm39) |
V987A |
probably damaging |
Het |
| Ppp3ca |
T |
A |
3: 136,596,250 (GRCm39) |
I305N |
probably damaging |
Het |
| Prex2 |
A |
G |
1: 11,252,161 (GRCm39) |
K1069E |
possibly damaging |
Het |
| Prss50 |
T |
C |
9: 110,690,403 (GRCm39) |
V182A |
probably damaging |
Het |
| Ptprg |
A |
G |
14: 12,211,703 (GRCm38) |
N995S |
probably benign |
Het |
| Robo2 |
C |
A |
16: 73,693,903 (GRCm39) |
G1375V |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,560,864 (GRCm39) |
Y325C |
possibly damaging |
Het |
| Semp2l1 |
T |
C |
1: 32,585,178 (GRCm39) |
D244G |
probably benign |
Het |
| Shcbp1 |
A |
C |
8: 4,798,720 (GRCm39) |
S400A |
probably damaging |
Het |
| Shfl |
C |
T |
9: 20,780,155 (GRCm39) |
|
probably benign |
Het |
| Sirpb1c |
T |
A |
3: 15,886,236 (GRCm39) |
Y380F |
probably benign |
Het |
| Tbl2 |
G |
C |
5: 135,188,329 (GRCm39) |
L374F |
probably damaging |
Het |
| Tpr |
C |
A |
1: 150,305,283 (GRCm39) |
A1524E |
possibly damaging |
Het |
| Vmn2r45 |
T |
A |
7: 8,486,460 (GRCm39) |
E276V |
probably damaging |
Het |
| Vps16 |
C |
T |
2: 130,283,623 (GRCm39) |
Q606* |
probably null |
Het |
| Vstm5 |
A |
T |
9: 15,150,652 (GRCm39) |
Q29L |
probably benign |
Het |
| Wipi1 |
G |
T |
11: 109,473,249 (GRCm39) |
S250Y |
probably damaging |
Het |
|
| Other mutations in Cped1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:Cped1
|
APN |
6 |
22,215,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00909:Cped1
|
APN |
6 |
22,122,426 (GRCm39) |
splice site |
probably benign |
|
|
IGL01434:Cped1
|
APN |
6 |
22,017,004 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01572:Cped1
|
APN |
6 |
22,051,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02063:Cped1
|
APN |
6 |
22,138,701 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02216:Cped1
|
APN |
6 |
22,059,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02257:Cped1
|
APN |
6 |
22,145,606 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02541:Cped1
|
APN |
6 |
22,120,988 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03008:Cped1
|
APN |
6 |
22,233,601 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03237:Cped1
|
APN |
6 |
22,233,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4382001:Cped1
|
UTSW |
6 |
22,222,449 (GRCm39) |
nonsense |
probably null |
|
|
PIT4812001:Cped1
|
UTSW |
6 |
22,122,293 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0048:Cped1
|
UTSW |
6 |
22,119,601 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0128:Cped1
|
UTSW |
6 |
22,121,038 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0130:Cped1
|
UTSW |
6 |
22,121,038 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0267:Cped1
|
UTSW |
6 |
22,119,475 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0374:Cped1
|
UTSW |
6 |
22,222,545 (GRCm39) |
splice site |
probably benign |
|
|
R0482:Cped1
|
UTSW |
6 |
22,016,957 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0734:Cped1
|
UTSW |
6 |
22,085,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1033:Cped1
|
UTSW |
6 |
22,016,950 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1118:Cped1
|
UTSW |
6 |
22,237,698 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1181:Cped1
|
UTSW |
6 |
22,215,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1300:Cped1
|
UTSW |
6 |
22,119,552 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1485:Cped1
|
UTSW |
6 |
22,132,387 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1507:Cped1
|
UTSW |
6 |
22,122,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1830:Cped1
|
UTSW |
6 |
22,237,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1879:Cped1
|
UTSW |
6 |
22,085,014 (GRCm39) |
splice site |
probably null |
|
|
R1902:Cped1
|
UTSW |
6 |
22,120,980 (GRCm39) |
splice site |
probably null |
|
|
R1991:Cped1
|
UTSW |
6 |
22,233,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2020:Cped1
|
UTSW |
6 |
22,143,963 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2883:Cped1
|
UTSW |
6 |
22,143,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3011:Cped1
|
UTSW |
6 |
22,088,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4466:Cped1
|
UTSW |
6 |
22,123,651 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4668:Cped1
|
UTSW |
6 |
22,237,652 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4808:Cped1
|
UTSW |
6 |
22,088,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5402:Cped1
|
UTSW |
6 |
22,143,951 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5417:Cped1
|
UTSW |
6 |
22,233,579 (GRCm39) |
missense |
probably null |
0.01 |
|
R5741:Cped1
|
UTSW |
6 |
22,123,620 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5821:Cped1
|
UTSW |
6 |
22,138,681 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5977:Cped1
|
UTSW |
6 |
22,254,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6255:Cped1
|
UTSW |
6 |
22,138,714 (GRCm39) |
splice site |
probably null |
|
|
R6304:Cped1
|
UTSW |
6 |
22,016,922 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6416:Cped1
|
UTSW |
6 |
22,123,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6444:Cped1
|
UTSW |
6 |
21,986,930 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6617:Cped1
|
UTSW |
6 |
22,215,546 (GRCm39) |
nonsense |
probably null |
|
|
R6650:Cped1
|
UTSW |
6 |
22,233,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7048:Cped1
|
UTSW |
6 |
22,119,469 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7083:Cped1
|
UTSW |
6 |
22,123,579 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7234:Cped1
|
UTSW |
6 |
22,254,625 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7387:Cped1
|
UTSW |
6 |
22,059,933 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7493:Cped1
|
UTSW |
6 |
22,215,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7747:Cped1
|
UTSW |
6 |
22,143,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7966:Cped1
|
UTSW |
6 |
22,059,953 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8113:Cped1
|
UTSW |
6 |
22,233,480 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8186:Cped1
|
UTSW |
6 |
22,123,587 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8215:Cped1
|
UTSW |
6 |
22,132,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8265:Cped1
|
UTSW |
6 |
22,222,426 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8280:Cped1
|
UTSW |
6 |
21,986,820 (GRCm39) |
missense |
unknown |
|
|
R8286:Cped1
|
UTSW |
6 |
22,254,601 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8393:Cped1
|
UTSW |
6 |
22,222,465 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8503:Cped1
|
UTSW |
6 |
22,145,564 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8725:Cped1
|
UTSW |
6 |
22,059,941 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8727:Cped1
|
UTSW |
6 |
22,059,941 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8852:Cped1
|
UTSW |
6 |
22,215,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8881:Cped1
|
UTSW |
6 |
22,119,578 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8888:Cped1
|
UTSW |
6 |
22,016,962 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8983:Cped1
|
UTSW |
6 |
22,138,686 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9135:Cped1
|
UTSW |
6 |
21,987,012 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0022:Cped1
|
UTSW |
6 |
21,987,045 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAACAGTGTTATTTCACAACAGGAC -3'
(R):5'- ACATGCAATGGTCTGGCCTC -3'
Sequencing Primer
(F):5'- TCTCTGCTTGACTCACAGGAGG -3'
(R):5'- TCTGGCCTCAGTGCTGAAGAC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation