Incidental Mutation 'R8727:Cped1'
| ID |
662496 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cped1
|
| Ensembl Gene |
ENSMUSG00000062980 |
| Gene Name |
cadherin-like and PC-esterase domain containing 1 |
| Synonyms |
A430107O13Rik |
| MMRRC Submission |
068575-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R8727 (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 22059941 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 202
(R202S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115382]
[ENSMUST00000115383]
[ENSMUST00000153922]
|
| AlphaFold |
B2RX70 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115382
AA Change: R202S
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000111040
Gene: ENSMUSG00000062980
AA Change: R202S
| 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 |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115383
AA Change: R202S
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000111041
Gene: ENSMUSG00000062980
AA Change: R202S
| 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: R64S
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153922
|
| SMART Domains |
Protein: ENSMUSP00000138562
Gene: ENSMUSG00000062980
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
130 |
142 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.2%
|
| Validation Efficiency |
100% (80/80) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630089N07Rik |
C |
T |
16: 97,867,651 (GRCm39) |
A104T |
probably damaging |
Het |
| Abhd18 |
T |
A |
3: 40,884,627 (GRCm39) |
L222Q |
probably damaging |
Het |
| Adam30 |
C |
T |
3: 98,070,348 (GRCm39) |
T727M |
possibly damaging |
Het |
| Adh6b |
A |
T |
3: 138,058,729 (GRCm39) |
Q137L |
probably damaging |
Het |
| Alpl |
C |
T |
4: 137,475,127 (GRCm39) |
V269I |
probably benign |
Het |
| Ang2 |
C |
T |
14: 51,432,996 (GRCm39) |
G129S |
probably benign |
Het |
| Atp6v0a1 |
A |
T |
11: 100,920,015 (GRCm39) |
H216L |
possibly damaging |
Het |
| BC030500 |
C |
T |
8: 59,366,049 (GRCm39) |
T61I |
unknown |
Het |
| Brpf1 |
T |
G |
6: 113,293,491 (GRCm39) |
L520R |
probably damaging |
Het |
| Btbd10 |
A |
G |
7: 112,927,626 (GRCm39) |
I243T |
possibly damaging |
Het |
| Bub1 |
C |
A |
2: 127,646,139 (GRCm39) |
C947F |
probably damaging |
Het |
| C4b |
T |
C |
17: 34,953,459 (GRCm39) |
E1008G |
probably damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,155,323 (GRCm39) |
T1188A |
probably benign |
Het |
| Cdcp3 |
A |
G |
7: 130,875,485 (GRCm39) |
T1770A |
unknown |
Het |
| Cnn1 |
G |
T |
9: 22,010,557 (GRCm39) |
|
probably benign |
Het |
| Colgalt2 |
T |
C |
1: 152,360,662 (GRCm39) |
M233T |
probably damaging |
Het |
| Cox15 |
A |
T |
19: 43,735,181 (GRCm39) |
C195* |
probably null |
Het |
| Dact2 |
A |
T |
17: 14,417,146 (GRCm39) |
C351* |
probably null |
Het |
| Dbnl |
A |
G |
11: 5,738,582 (GRCm39) |
N8S |
probably benign |
Het |
| Depdc1a |
T |
A |
3: 159,228,356 (GRCm39) |
N369K |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,415,005 (GRCm39) |
L243Q |
probably damaging |
Het |
| Dscaml1 |
T |
A |
9: 45,341,759 (GRCm39) |
Y57N |
probably benign |
Het |
| Eif2b3 |
A |
G |
4: 116,927,944 (GRCm39) |
T388A |
probably benign |
Het |
| Eif4h |
A |
C |
5: 134,654,393 (GRCm39) |
|
probably null |
Het |
| Elf1 |
C |
T |
14: 79,810,667 (GRCm39) |
Q288* |
probably null |
Het |
| Fbxl5 |
A |
T |
5: 43,908,362 (GRCm39) |
|
probably benign |
Het |
| Fgl2 |
C |
T |
5: 21,580,677 (GRCm39) |
R340* |
probably null |
Het |
| Fut4 |
T |
C |
9: 14,662,082 (GRCm39) |
D404G |
probably damaging |
Het |
| Glmn |
G |
A |
5: 107,718,152 (GRCm39) |
P255L |
probably benign |
Het |
| Gm14322 |
C |
T |
2: 177,411,481 (GRCm39) |
T97I |
probably benign |
Het |
| Gm44511 |
C |
A |
6: 128,797,997 (GRCm39) |
C32F |
probably damaging |
Het |
| Gm5478 |
A |
G |
15: 101,553,871 (GRCm39) |
F247S |
probably damaging |
Het |
| Golgb1 |
T |
A |
16: 36,739,563 (GRCm39) |
M2675K |
probably damaging |
Het |
| Hectd1 |
T |
C |
12: 51,849,000 (GRCm39) |
D368G |
possibly damaging |
Het |
| Hnrnpul2 |
A |
G |
19: 8,798,064 (GRCm39) |
N140S |
probably benign |
Het |
| Htr4 |
A |
T |
18: 62,561,209 (GRCm39) |
I157L |
probably damaging |
Het |
| Igf2bp3 |
G |
T |
6: 49,086,009 (GRCm39) |
|
probably benign |
Het |
| Kcnma1 |
T |
G |
14: 23,436,332 (GRCm39) |
M790L |
probably benign |
Het |
| Kcnv1 |
G |
A |
15: 44,977,999 (GRCm39) |
S13L |
unknown |
Het |
| Kctd20 |
C |
T |
17: 29,184,025 (GRCm39) |
R312* |
probably null |
Het |
| Kdm3b |
T |
A |
18: 34,960,435 (GRCm39) |
I1340N |
probably damaging |
Het |
| Kdm6b |
A |
G |
11: 69,292,919 (GRCm39) |
F1286L |
unknown |
Het |
| Knl1 |
T |
A |
2: 118,899,524 (GRCm39) |
F408L |
probably benign |
Het |
| Lypd5 |
G |
T |
7: 24,053,101 (GRCm39) |
G253W |
probably damaging |
Het |
| Mea1 |
A |
G |
17: 46,992,614 (GRCm39) |
T21A |
probably benign |
Het |
| Metrnl |
A |
G |
11: 121,606,842 (GRCm39) |
E299G |
possibly damaging |
Het |
| Mindy4 |
T |
A |
6: 55,256,055 (GRCm39) |
|
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Nbn |
G |
A |
4: 15,963,911 (GRCm39) |
S104N |
probably damaging |
Het |
| Nxpe2 |
A |
T |
9: 48,238,073 (GRCm39) |
F61I |
probably benign |
Het |
| Or6c1b |
T |
C |
10: 129,273,334 (GRCm39) |
Y218H |
probably benign |
Het |
| Or6c70 |
T |
A |
10: 129,710,092 (GRCm39) |
D178V |
probably damaging |
Het |
| Pcdhb20 |
C |
T |
18: 37,638,437 (GRCm39) |
A321V |
probably damaging |
Het |
| Pgr |
C |
A |
9: 8,901,544 (GRCm39) |
P359Q |
probably damaging |
Het |
| Pi4k2b |
G |
A |
5: 52,908,031 (GRCm39) |
V157I |
probably benign |
Het |
| Piezo2 |
C |
T |
18: 63,242,956 (GRCm39) |
S621N |
probably benign |
Het |
| Plekhm1 |
A |
C |
11: 103,258,444 (GRCm39) |
F1031L |
probably damaging |
Het |
| Pltp |
A |
G |
2: 164,696,301 (GRCm39) |
S124P |
probably damaging |
Het |
| Polr3gl |
T |
A |
3: 96,487,154 (GRCm39) |
E177V |
probably benign |
Het |
| Pstk |
G |
T |
7: 130,973,024 (GRCm39) |
R41L |
possibly damaging |
Het |
| Ptprk |
C |
A |
10: 28,442,541 (GRCm39) |
|
probably benign |
Het |
| Rasgrp1 |
T |
C |
2: 117,119,158 (GRCm39) |
E493G |
probably benign |
Het |
| Rtn3 |
A |
G |
19: 7,434,726 (GRCm39) |
L422P |
probably benign |
Het |
| Rusc2 |
C |
T |
4: 43,401,351 (GRCm39) |
|
probably benign |
Het |
| Sbno2 |
A |
G |
10: 79,911,090 (GRCm39) |
F6S |
probably benign |
Het |
| Sh2d4a |
A |
G |
8: 68,798,695 (GRCm39) |
Y348C |
probably damaging |
Het |
| Sh3rf3 |
A |
G |
10: 58,939,992 (GRCm39) |
|
probably null |
Het |
| Sipa1l2 |
T |
C |
8: 126,177,125 (GRCm39) |
E1163G |
probably benign |
Het |
| Strip1 |
G |
C |
3: 107,521,964 (GRCm39) |
A738G |
probably damaging |
Het |
| Tdrkh |
C |
T |
3: 94,333,299 (GRCm39) |
R255C |
probably benign |
Het |
| Tex11 |
C |
T |
X: 100,059,191 (GRCm39) |
V190I |
possibly damaging |
Het |
| Tln1 |
A |
T |
4: 43,555,911 (GRCm39) |
M101K |
possibly damaging |
Het |
| Trav6-2 |
A |
C |
14: 52,905,028 (GRCm39) |
|
probably benign |
Het |
| Tspan11 |
A |
T |
6: 127,900,674 (GRCm39) |
I82F |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,779,320 (GRCm39) |
K1233E |
unknown |
Het |
| U2af2 |
T |
A |
7: 5,070,432 (GRCm39) |
|
probably benign |
Het |
| Usp29 |
A |
T |
7: 6,965,917 (GRCm39) |
S587C |
probably damaging |
Het |
| Vmn1r235 |
A |
T |
17: 21,482,056 (GRCm39) |
Q127L |
probably damaging |
Het |
| Vmn1r65 |
C |
A |
7: 6,011,503 (GRCm39) |
A244S |
probably damaging |
Het |
| Vmn2r18 |
A |
G |
5: 151,508,462 (GRCm39) |
S221P |
probably damaging |
Het |
| Zfp229 |
T |
C |
17: 21,964,828 (GRCm39) |
S353P |
probably damaging |
Het |
| Zpld2 |
T |
C |
4: 133,930,150 (GRCm39) |
K52E |
probably benign |
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 |
|
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'- GCCATCCTTGATTCAAGTGTC -3'
(R):5'- TGGGGTATTATCAATGCCTTCC -3'
Sequencing Primer
(F):5'- CCTTGATTCAAGTGTCAATATCCAG -3'
(R):5'- GGGTATTATCAATGCCTTCCTATTG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation