Incidental Mutation 'R8215:Cped1'
| ID |
636360 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cped1
|
| Ensembl Gene |
ENSMUSG00000062980 |
| Gene Name |
cadherin-like and PC-esterase domain containing 1 |
| Synonyms |
A430107O13Rik |
| MMRRC Submission |
067657-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R8215 (G1)
|
| Quality Score |
172.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
21985915-22256403 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 22132277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 486
(Y486F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115383]
|
| AlphaFold |
B2RX70 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115383
AA Change: Y486F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111041
Gene: ENSMUSG00000062980
AA Change: Y486F
| 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: Y348F
| 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 |
|
| Meta Mutation Damage Score |
0.1464 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 93.8%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
G |
T |
15: 81,949,301 (GRCm39) |
R1066L |
probably benign |
Het |
| Abca14 |
A |
C |
7: 119,893,425 (GRCm39) |
I1292L |
probably benign |
Het |
| Adam34l |
T |
A |
8: 44,079,538 (GRCm39) |
T229S |
probably benign |
Het |
| Adamtsl1 |
T |
G |
4: 86,261,382 (GRCm39) |
F1206V |
probably benign |
Het |
| Agl |
T |
C |
3: 116,582,293 (GRCm39) |
H243R |
probably damaging |
Het |
| Btn2a2 |
A |
C |
13: 23,666,040 (GRCm39) |
L264R |
probably damaging |
Het |
| Ccdc33 |
A |
T |
9: 57,939,995 (GRCm39) |
S749T |
probably benign |
Het |
| Cd55b |
CTTTT |
CTTTTT |
1: 130,347,337 (GRCm39) |
|
probably null |
Het |
| Cdh8 |
A |
G |
8: 99,757,498 (GRCm39) |
I700T |
possibly damaging |
Het |
| Cfap65 |
A |
G |
1: 74,949,902 (GRCm39) |
L1201P |
probably damaging |
Het |
| Chsy3 |
C |
T |
18: 59,308,941 (GRCm39) |
Q65* |
probably null |
Het |
| Clic5 |
T |
A |
17: 44,586,228 (GRCm39) |
L239* |
probably null |
Het |
| Corin |
T |
C |
5: 72,462,361 (GRCm39) |
D957G |
probably damaging |
Het |
| Csnk1g3 |
C |
T |
18: 54,081,151 (GRCm39) |
T374M |
probably benign |
Het |
| D930020B18Rik |
T |
A |
10: 121,503,429 (GRCm39) |
C201* |
probably null |
Het |
| Dnah2 |
A |
G |
11: 69,326,193 (GRCm39) |
F3653L |
probably damaging |
Het |
| F11r |
GGTGTG |
GGTGTGTG |
1: 171,290,656 (GRCm39) |
|
probably null |
Het |
| Foxj3 |
T |
G |
4: 119,478,808 (GRCm39) |
S455R |
unknown |
Het |
| Gcnt3 |
T |
C |
9: 69,941,455 (GRCm39) |
D371G |
probably damaging |
Het |
| Gm10837 |
A |
G |
14: 122,728,193 (GRCm39) |
E23G |
unknown |
Het |
| Hivep3 |
T |
C |
4: 119,980,098 (GRCm39) |
V1712A |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hoxa2 |
A |
G |
6: 52,140,041 (GRCm39) |
V315A |
probably damaging |
Het |
| Irx5 |
A |
T |
8: 93,086,241 (GRCm39) |
Y108F |
possibly damaging |
Het |
| Itsn1 |
T |
C |
16: 91,608,996 (GRCm39) |
I248T |
probably damaging |
Het |
| Kcnb1 |
T |
C |
2: 166,946,361 (GRCm39) |
K829R |
probably benign |
Het |
| Klhl17 |
A |
G |
4: 156,314,510 (GRCm39) |
V635A |
unknown |
Het |
| Krr1 |
C |
T |
10: 111,815,834 (GRCm39) |
R234* |
probably null |
Het |
| Lrrc7 |
A |
T |
3: 157,915,387 (GRCm39) |
D209E |
probably benign |
Het |
| Mcm2 |
T |
C |
6: 88,874,293 (GRCm39) |
E71G |
probably damaging |
Het |
| Mroh5 |
C |
A |
15: 73,691,139 (GRCm39) |
K10N |
probably damaging |
Het |
| Myh3 |
A |
G |
11: 66,992,005 (GRCm39) |
E1850G |
probably damaging |
Het |
| Nedd9 |
T |
C |
13: 41,492,319 (GRCm39) |
I64V |
probably benign |
Het |
| Nisch |
A |
G |
14: 30,908,658 (GRCm39) |
S456P |
possibly damaging |
Het |
| Nrcam |
T |
C |
12: 44,610,896 (GRCm39) |
V532A |
probably benign |
Het |
| Or51k1 |
T |
C |
7: 103,661,330 (GRCm39) |
D193G |
possibly damaging |
Het |
| Or5p51 |
T |
G |
7: 107,444,124 (GRCm39) |
D272A |
probably damaging |
Het |
| Or7g32 |
T |
C |
9: 19,408,796 (GRCm39) |
F251L |
probably damaging |
Het |
| Or8k17 |
C |
T |
2: 86,066,862 (GRCm39) |
V106M |
probably benign |
Het |
| Plekhg1 |
C |
T |
10: 3,907,521 (GRCm39) |
P868S |
|
Het |
| Ptf1a |
A |
G |
2: 19,450,760 (GRCm39) |
Q30R |
possibly damaging |
Het |
| Ptgs1 |
G |
T |
2: 36,141,179 (GRCm39) |
C542F |
probably damaging |
Het |
| Rere |
T |
A |
4: 150,701,424 (GRCm39) |
M1268K |
possibly damaging |
Het |
| Rp1 |
A |
G |
1: 4,315,318 (GRCm39) |
F485L |
unknown |
Het |
| Samd14 |
A |
T |
11: 94,905,213 (GRCm39) |
E8D |
probably benign |
Het |
| Serpinh1 |
A |
G |
7: 98,995,545 (GRCm39) |
Y346H |
possibly damaging |
Het |
| Shq1 |
A |
T |
6: 100,648,021 (GRCm39) |
M1K |
probably null |
Het |
| Tfrc |
T |
C |
16: 32,443,848 (GRCm39) |
S551P |
probably damaging |
Het |
| Tnr |
A |
C |
1: 159,715,860 (GRCm39) |
N874T |
possibly damaging |
Het |
| Trak1 |
C |
A |
9: 121,298,096 (GRCm39) |
T667N |
probably damaging |
Het |
| Trpv2 |
A |
C |
11: 62,481,757 (GRCm39) |
T423P |
probably damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Vmn2r24 |
A |
G |
6: 123,756,077 (GRCm39) |
T50A |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,346,853 (GRCm39) |
D3031E |
probably benign |
Het |
| Zbed6 |
G |
T |
1: 133,586,530 (GRCm39) |
A269E |
probably damaging |
Het |
| Zbtb4 |
A |
C |
11: 69,669,598 (GRCm39) |
I774L |
probably benign |
Het |
| Zbtb47 |
T |
C |
9: 121,596,344 (GRCm39) |
S604P |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,677,349 (GRCm39) |
T2800A |
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 |
|
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'- ATTGCTTGGCCAAACAATATCCAAC -3'
(R):5'- GCTCGCTTTAATGTAGGCAAAG -3'
Sequencing Primer
(F):5'- ACTGATCTGTTTTGTTCTGC -3'
(R):5'- GGCAAAGCCTTTTGAAATCAAC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation