Incidental Mutation 'R8983:Cped1'
| ID |
683816 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cped1
|
| Ensembl Gene |
ENSMUSG00000062980 |
| Gene Name |
cadherin-like and PC-esterase domain containing 1 |
| Synonyms |
A430107O13Rik |
| MMRRC Submission |
068816-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R8983 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
21985915-22256403 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 22138686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 555
(N555I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115383]
|
| AlphaFold |
B2RX70 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115383
AA Change: N555I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000111041
Gene: ENSMUSG00000062980
AA Change: N555I
| 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: N417I
| 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: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
A |
T |
2: 151,313,272 (GRCm39) |
F632I |
unknown |
Het |
| 5730522E02Rik |
T |
C |
11: 25,719,069 (GRCm39) |
T26A |
unknown |
Het |
| Ablim1 |
A |
T |
19: 57,227,644 (GRCm39) |
V7E |
probably benign |
Het |
| Adcy5 |
T |
G |
16: 34,977,232 (GRCm39) |
L255R |
possibly damaging |
Het |
| Ahnak |
C |
A |
19: 8,981,477 (GRCm39) |
N920K |
possibly damaging |
Het |
| Arhgef11 |
A |
G |
3: 87,640,508 (GRCm39) |
K1251E |
|
Het |
| Astn1 |
T |
A |
1: 158,491,700 (GRCm39) |
|
probably null |
Het |
| Atxn2 |
A |
G |
5: 121,916,063 (GRCm39) |
Y423C |
probably damaging |
Het |
| Ccdc180 |
T |
A |
4: 45,909,359 (GRCm39) |
V509D |
possibly damaging |
Het |
| Ccdc80 |
T |
C |
16: 44,924,780 (GRCm39) |
V638A |
possibly damaging |
Het |
| Ccr6 |
T |
G |
17: 8,474,878 (GRCm39) |
C28G |
probably damaging |
Het |
| Cdca7l |
A |
G |
12: 117,828,902 (GRCm39) |
|
probably benign |
Het |
| Cnot3 |
T |
C |
7: 3,654,328 (GRCm39) |
I52T |
probably damaging |
Het |
| Cpne6 |
A |
T |
14: 55,753,711 (GRCm39) |
I390F |
probably damaging |
Het |
| Dlec1 |
A |
G |
9: 118,957,419 (GRCm39) |
D836G |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 31,070,628 (GRCm39) |
V4438D |
probably damaging |
Het |
| Dok3 |
G |
T |
13: 55,671,535 (GRCm39) |
N345K |
probably damaging |
Het |
| Eea1 |
C |
T |
10: 95,855,741 (GRCm39) |
Q593* |
probably null |
Het |
| Eif3m |
T |
C |
2: 104,830,139 (GRCm39) |
Y351C |
possibly damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Epn3 |
T |
C |
11: 94,386,914 (GRCm39) |
E152G |
probably damaging |
Het |
| Faf2 |
A |
G |
13: 54,769,726 (GRCm39) |
S25G |
probably benign |
Het |
| Fam83b |
A |
G |
9: 76,400,357 (GRCm39) |
S249P |
probably damaging |
Het |
| Fgl1 |
A |
T |
8: 41,653,496 (GRCm39) |
S132R |
probably benign |
Het |
| Frem3 |
A |
G |
8: 81,395,875 (GRCm39) |
E1890G |
probably damaging |
Het |
| Gpc5 |
T |
A |
14: 115,330,118 (GRCm39) |
S94T |
unknown |
Het |
| Hectd1 |
A |
G |
12: 51,791,410 (GRCm39) |
V2584A |
probably damaging |
Het |
| Kifc3 |
G |
A |
8: 95,833,104 (GRCm39) |
A498V |
probably damaging |
Het |
| Klra6 |
T |
C |
6: 129,999,573 (GRCm39) |
T132A |
probably benign |
Het |
| Loricrin |
T |
C |
3: 91,988,446 (GRCm39) |
Y280C |
unknown |
Het |
| Lpin2 |
C |
T |
17: 71,553,962 (GRCm39) |
A931V |
unknown |
Het |
| Lpxn |
A |
G |
19: 12,810,522 (GRCm39) |
H322R |
probably damaging |
Het |
| Megf9 |
A |
G |
4: 70,353,634 (GRCm39) |
S391P |
probably benign |
Het |
| Mipep |
G |
A |
14: 61,080,702 (GRCm39) |
V565I |
probably benign |
Het |
| Mmrn1 |
C |
T |
6: 60,953,042 (GRCm39) |
T441I |
probably benign |
Het |
| Mrpl48 |
T |
C |
7: 100,223,702 (GRCm39) |
N14S |
probably benign |
Het |
| Ncald |
A |
G |
15: 37,397,512 (GRCm39) |
F56S |
probably damaging |
Het |
| Or9g3 |
T |
C |
2: 85,584,251 (GRCm39) |
|
probably benign |
Het |
| Pals1 |
G |
A |
12: 78,884,298 (GRCm39) |
D640N |
probably damaging |
Het |
| Plcd3 |
A |
G |
11: 102,962,092 (GRCm39) |
V703A |
possibly damaging |
Het |
| Potefam1 |
A |
G |
2: 111,030,701 (GRCm39) |
S403P |
probably benign |
Het |
| Prss59 |
A |
G |
6: 40,897,934 (GRCm39) |
S250P |
possibly damaging |
Het |
| Qser1 |
T |
C |
2: 104,617,702 (GRCm39) |
I947V |
probably benign |
Het |
| Rdx |
G |
A |
9: 51,974,905 (GRCm39) |
A14T |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,321,175 (GRCm39) |
D1211G |
|
Het |
| Sbpl |
T |
C |
17: 24,172,253 (GRCm39) |
D222G |
unknown |
Het |
| Scn8a |
C |
A |
15: 100,900,030 (GRCm39) |
T703K |
possibly damaging |
Het |
| Setbp1 |
A |
G |
18: 78,902,459 (GRCm39) |
S403P |
probably benign |
Het |
| Sfmbt2 |
A |
G |
2: 10,409,267 (GRCm39) |
S71G |
probably damaging |
Het |
| Slc35f3 |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 127,115,775 (GRCm39) |
|
probably benign |
Het |
| Smco3 |
C |
T |
6: 136,808,730 (GRCm39) |
G48D |
possibly damaging |
Het |
| Spag9 |
T |
C |
11: 93,958,815 (GRCm39) |
S280P |
probably benign |
Het |
| Thada |
T |
C |
17: 84,538,515 (GRCm39) |
T1498A |
probably benign |
Het |
| Tmprss7 |
T |
C |
16: 45,481,263 (GRCm39) |
D641G |
probably damaging |
Het |
| Top6bl |
T |
C |
19: 4,695,714 (GRCm39) |
I513V |
possibly damaging |
Het |
| Trim43a |
A |
G |
9: 88,464,404 (GRCm39) |
D105G |
probably benign |
Het |
| Utp14b |
T |
A |
1: 78,643,003 (GRCm39) |
N300K |
probably benign |
Het |
| Vmn2r83 |
T |
G |
10: 79,327,360 (GRCm39) |
I656S |
probably damaging |
Het |
| Zfp646 |
A |
T |
7: 127,480,777 (GRCm39) |
M985L |
probably benign |
Het |
| Zfp777 |
A |
T |
6: 48,006,158 (GRCm39) |
L412Q |
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 |
|
R7720:Cped1
|
UTSW |
6 |
22,222,430 (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 |
|
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'- AGCTTTACTGAGAAATGCTTGTGG -3'
(R):5'- AGCCTTAAGATTCCTTGAACCCC -3'
Sequencing Primer
(F):5'- CAGACTAGCTCATTTGTGAACTCCAG -3'
(R):5'- GATTCCTTGAACCCCTAAAAATGAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation