Incidental Mutation 'R0130:Cped1'
| ID |
50110 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cped1
|
| Ensembl Gene |
ENSMUSG00000062980 |
| Gene Name |
cadherin-like and PC-esterase domain containing 1 |
| Synonyms |
A430107O13Rik |
| MMRRC Submission |
038415-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R0130 (G1)
|
| Quality Score |
170 |
|
Status
|
Validated
(trace)
|
| Chromosome |
6 |
| Chromosomal Location |
21985916-22256404 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 22121039 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 373
(Y373N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115382]
[ENSMUST00000115383]
[ENSMUST00000153922]
|
| AlphaFold |
B2RX70 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115382
AA Change: Y373N
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000111040
Gene: ENSMUSG00000062980
AA Change: Y373N
| 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 |
probably benign
Transcript: ENSMUST00000115383
AA Change: Y373N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000111041
Gene: ENSMUSG00000062980
AA Change: Y373N
| 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 |
unknown
Transcript: ENSMUST00000137437
AA Change: Y235N
|
| SMART Domains |
Protein: ENSMUSP00000119808
Gene: ENSMUSG00000062980
AA Change: Y235N
| 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 |
|
| Meta Mutation Damage Score |
0.0946 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.7%
- 10x: 93.4%
- 20x: 80.2%
|
| Validation Efficiency |
99% (84/85) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
A |
T |
17: 84,686,666 |
Y37F |
probably damaging |
Het |
| Ablim2 |
G |
A |
5: 35,809,176 |
|
probably benign |
Het |
| Anxa9 |
A |
G |
3: 95,302,422 |
S129P |
probably benign |
Het |
| Apol7c |
A |
G |
15: 77,526,362 |
I128T |
possibly damaging |
Het |
| Arfgef2 |
T |
G |
2: 166,835,719 |
I88S |
probably damaging |
Het |
| Arfip2 |
A |
G |
7: 105,638,998 |
|
probably benign |
Het |
| Atp5j2 |
A |
T |
5: 145,188,182 |
|
probably benign |
Het |
| Atp7b |
C |
T |
8: 22,028,172 |
E205K |
possibly damaging |
Het |
| Atp8b5 |
T |
A |
4: 43,369,715 |
|
probably null |
Het |
| Cd22 |
A |
G |
7: 30,869,964 |
Y402H |
possibly damaging |
Het |
| Cd248 |
A |
G |
19: 5,069,962 |
T613A |
probably benign |
Het |
| Cdcp2 |
C |
T |
4: 107,106,707 |
|
probably benign |
Het |
| Cenpc1 |
A |
T |
5: 86,046,546 |
D120E |
probably benign |
Het |
| Chd3 |
T |
A |
11: 69,359,830 |
H691L |
probably damaging |
Het |
| Colec12 |
C |
T |
18: 9,858,921 |
P568L |
unknown |
Het |
| Cr2 |
A |
T |
1: 195,166,231 |
V328D |
probably damaging |
Het |
| Ctnnd2 |
A |
T |
15: 30,921,913 |
E895V |
probably damaging |
Het |
| D630045J12Rik |
A |
T |
6: 38,149,771 |
|
probably benign |
Het |
| Dcdc2a |
A |
T |
13: 25,187,672 |
|
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,618,674 |
T837K |
probably benign |
Het |
| Eif2ak3 |
C |
A |
6: 70,881,732 |
|
probably benign |
Het |
| Epb41l5 |
A |
C |
1: 119,549,902 |
V705G |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,252,118 |
M4302L |
probably benign |
Het |
| Flnb |
T |
C |
14: 7,901,951 |
V938A |
probably damaging |
Het |
| Frmd4a |
T |
C |
2: 4,604,092 |
Y928H |
probably damaging |
Het |
| Fyn |
C |
T |
10: 39,511,982 |
T78M |
probably benign |
Het |
| Gdap2 |
A |
G |
3: 100,201,995 |
T443A |
probably damaging |
Het |
| Gde1 |
A |
T |
7: 118,695,060 |
F63L |
probably benign |
Het |
| Gjc3 |
A |
G |
5: 137,957,940 |
S28P |
probably benign |
Het |
| Gm10250 |
G |
A |
15: 5,120,991 |
|
probably null |
Het |
| Gm1141 |
T |
C |
X: 71,939,555 |
C378R |
possibly damaging |
Het |
| Hp1bp3 |
C |
T |
4: 138,237,209 |
S348F |
probably damaging |
Het |
| Klhl23 |
T |
C |
2: 69,833,966 |
V553A |
probably damaging |
Het |
| Lman2l |
G |
T |
1: 36,424,864 |
S171* |
probably null |
Het |
| Lrp1b |
T |
C |
2: 41,511,508 |
D378G |
probably damaging |
Het |
| Map3k11 |
T |
C |
19: 5,690,815 |
L190P |
probably damaging |
Het |
| Mki67 |
T |
A |
7: 135,696,459 |
Q2282L |
probably damaging |
Het |
| Mthfd2 |
T |
A |
6: 83,309,008 |
I272F |
probably damaging |
Het |
| Myom1 |
A |
T |
17: 71,045,755 |
D358V |
probably damaging |
Het |
| Nebl |
T |
A |
2: 17,393,023 |
Q487H |
possibly damaging |
Het |
| Nebl |
T |
C |
2: 17,390,926 |
|
probably benign |
Het |
| Nlrp2 |
T |
A |
7: 5,322,418 |
N14Y |
possibly damaging |
Het |
| Olfr1090 |
T |
C |
2: 86,753,887 |
M284V |
probably benign |
Het |
| Olfr304 |
T |
C |
7: 86,386,306 |
Y118C |
probably damaging |
Het |
| Olfr339 |
T |
A |
2: 36,422,287 |
D296E |
probably benign |
Het |
| Olfr372 |
C |
T |
8: 72,058,400 |
T240M |
probably damaging |
Het |
| Olfr992 |
T |
A |
2: 85,399,961 |
S191C |
probably damaging |
Het |
| Paxip1 |
C |
T |
5: 27,744,185 |
|
probably benign |
Het |
| Pclo |
A |
G |
5: 14,679,797 |
|
probably benign |
Het |
| Pld2 |
T |
G |
11: 70,554,348 |
N591K |
probably benign |
Het |
| Plekha7 |
A |
G |
7: 116,170,704 |
M276T |
probably damaging |
Het |
| Prss39 |
T |
A |
1: 34,502,200 |
|
probably benign |
Het |
| Prtg |
A |
G |
9: 72,809,716 |
Y113C |
probably damaging |
Het |
| Rab38 |
T |
A |
7: 88,450,541 |
I88N |
probably damaging |
Het |
| Rbfox2 |
A |
G |
15: 77,091,857 |
|
probably benign |
Het |
| Samd5 |
A |
G |
10: 9,674,939 |
W9R |
probably damaging |
Het |
| Sec14l1 |
A |
T |
11: 117,156,407 |
K637I |
possibly damaging |
Het |
| Sh2b1 |
A |
T |
7: 126,471,448 |
D360E |
possibly damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,145,314 |
N628S |
possibly damaging |
Het |
| Sim1 |
A |
T |
10: 50,907,961 |
I104F |
probably damaging |
Het |
| Smcp |
T |
A |
3: 92,584,520 |
T7S |
unknown |
Het |
| Sp4 |
A |
G |
12: 118,300,816 |
|
probably benign |
Het |
| Tectb |
G |
T |
19: 55,181,961 |
K81N |
probably damaging |
Het |
| Thbs4 |
G |
T |
13: 92,754,410 |
H850N |
probably benign |
Het |
| Tiam1 |
T |
C |
16: 89,897,754 |
M272V |
probably benign |
Het |
| Trav13-3 |
T |
A |
14: 53,729,776 |
|
noncoding transcript |
Het |
| Ubap2l |
A |
T |
3: 90,021,373 |
S478T |
possibly damaging |
Het |
| Vmn2r85 |
A |
G |
10: 130,419,185 |
|
probably benign |
Het |
|
| Other mutations in Cped1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:Cped1
|
APN |
6 |
22,215,523 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00909:Cped1
|
APN |
6 |
22,122,427 (GRCm38) |
splice site |
probably benign |
|
|
IGL01434:Cped1
|
APN |
6 |
22,017,005 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01572:Cped1
|
APN |
6 |
22,051,301 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02063:Cped1
|
APN |
6 |
22,138,702 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02216:Cped1
|
APN |
6 |
22,059,945 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02257:Cped1
|
APN |
6 |
22,145,607 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
IGL02541:Cped1
|
APN |
6 |
22,120,989 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03008:Cped1
|
APN |
6 |
22,233,602 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03237:Cped1
|
APN |
6 |
22,233,596 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4382001:Cped1
|
UTSW |
6 |
22,222,450 (GRCm38) |
nonsense |
probably null |
|
|
PIT4812001:Cped1
|
UTSW |
6 |
22,122,294 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0048:Cped1
|
UTSW |
6 |
22,119,602 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0128:Cped1
|
UTSW |
6 |
22,121,039 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0267:Cped1
|
UTSW |
6 |
22,119,476 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0374:Cped1
|
UTSW |
6 |
22,222,546 (GRCm38) |
splice site |
probably benign |
|
|
R0482:Cped1
|
UTSW |
6 |
22,016,958 (GRCm38) |
missense |
probably benign |
0.32 |
|
R0734:Cped1
|
UTSW |
6 |
22,085,041 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1033:Cped1
|
UTSW |
6 |
22,016,951 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1118:Cped1
|
UTSW |
6 |
22,237,699 (GRCm38) |
missense |
probably benign |
0.19 |
|
R1181:Cped1
|
UTSW |
6 |
22,215,562 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1300:Cped1
|
UTSW |
6 |
22,119,553 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1485:Cped1
|
UTSW |
6 |
22,132,388 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1507:Cped1
|
UTSW |
6 |
22,122,261 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1830:Cped1
|
UTSW |
6 |
22,237,728 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1879:Cped1
|
UTSW |
6 |
22,085,015 (GRCm38) |
splice site |
probably null |
|
|
R1902:Cped1
|
UTSW |
6 |
22,120,981 (GRCm38) |
splice site |
probably null |
|
|
R1991:Cped1
|
UTSW |
6 |
22,233,927 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2020:Cped1
|
UTSW |
6 |
22,143,964 (GRCm38) |
missense |
probably benign |
0.38 |
|
R2883:Cped1
|
UTSW |
6 |
22,143,979 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3011:Cped1
|
UTSW |
6 |
22,088,696 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4466:Cped1
|
UTSW |
6 |
22,123,652 (GRCm38) |
missense |
probably benign |
0.29 |
|
R4668:Cped1
|
UTSW |
6 |
22,237,653 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4808:Cped1
|
UTSW |
6 |
22,088,757 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5402:Cped1
|
UTSW |
6 |
22,143,952 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5417:Cped1
|
UTSW |
6 |
22,233,580 (GRCm38) |
missense |
probably null |
0.01 |
|
R5741:Cped1
|
UTSW |
6 |
22,123,621 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5821:Cped1
|
UTSW |
6 |
22,138,682 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5977:Cped1
|
UTSW |
6 |
22,254,608 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6255:Cped1
|
UTSW |
6 |
22,138,715 (GRCm38) |
splice site |
probably null |
|
|
R6304:Cped1
|
UTSW |
6 |
22,016,923 (GRCm38) |
missense |
probably benign |
0.14 |
|
R6416:Cped1
|
UTSW |
6 |
22,123,649 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6444:Cped1
|
UTSW |
6 |
21,986,931 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6617:Cped1
|
UTSW |
6 |
22,215,547 (GRCm38) |
nonsense |
probably null |
|
|
R6650:Cped1
|
UTSW |
6 |
22,233,976 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7048:Cped1
|
UTSW |
6 |
22,119,470 (GRCm38) |
missense |
probably benign |
0.36 |
|
R7083:Cped1
|
UTSW |
6 |
22,123,580 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7234:Cped1
|
UTSW |
6 |
22,254,626 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7387:Cped1
|
UTSW |
6 |
22,059,934 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7493:Cped1
|
UTSW |
6 |
22,215,513 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7720:Cped1
|
UTSW |
6 |
22,222,431 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7747:Cped1
|
UTSW |
6 |
22,143,974 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7966:Cped1
|
UTSW |
6 |
22,059,954 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8113:Cped1
|
UTSW |
6 |
22,233,481 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R8186:Cped1
|
UTSW |
6 |
22,123,588 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8215:Cped1
|
UTSW |
6 |
22,132,278 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8265:Cped1
|
UTSW |
6 |
22,222,427 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8280:Cped1
|
UTSW |
6 |
21,986,821 (GRCm38) |
missense |
unknown |
|
|
R8286:Cped1
|
UTSW |
6 |
22,254,602 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8393:Cped1
|
UTSW |
6 |
22,222,466 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R8503:Cped1
|
UTSW |
6 |
22,145,565 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8725:Cped1
|
UTSW |
6 |
22,059,942 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R8727:Cped1
|
UTSW |
6 |
22,059,942 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R8852:Cped1
|
UTSW |
6 |
22,215,621 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8881:Cped1
|
UTSW |
6 |
22,119,579 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R8888:Cped1
|
UTSW |
6 |
22,016,963 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R8983:Cped1
|
UTSW |
6 |
22,138,687 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9135:Cped1
|
UTSW |
6 |
21,987,013 (GRCm38) |
missense |
probably damaging |
0.98 |
|
X0022:Cped1
|
UTSW |
6 |
21,987,046 (GRCm38) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATGGGGTCACCTCTGTTCTCGG -3'
(R):5'- ACAGATTCCCCACTTGTTAGGAGCC -3'
Sequencing Primer
(F):5'- AGAGAGAGGTGCTCATTCCC -3'
(R):5'- TCAGCCTGTACTGACTGCAA -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation