Incidental Mutation 'R1830:Cped1'
| ID |
207221 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cped1
|
| Ensembl Gene |
ENSMUSG00000062980 |
| Gene Name |
cadherin-like and PC-esterase domain containing 1 |
| Synonyms |
A430107O13Rik |
| MMRRC Submission |
039857-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R1830 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
21985915-22256403 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22237727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 948
(C948R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115383]
|
| AlphaFold |
B2RX70 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115383
AA Change: C948R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111041
Gene: ENSMUSG00000062980
AA Change: C948R
| 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: C810R
|
| SMART Domains |
Protein: ENSMUSP00000119808
Gene: ENSMUSG00000062980
AA Change: C810R
| 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: 97.5%
- 3x: 96.9%
- 10x: 95.2%
- 20x: 92.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,240,350 (GRCm39) |
S738P |
probably benign |
Het |
| Abi3bp |
C |
A |
16: 56,408,348 (GRCm39) |
P261Q |
probably damaging |
Het |
| Adam19 |
A |
G |
11: 46,018,105 (GRCm39) |
N389S |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,637,196 (GRCm39) |
V3415D |
possibly damaging |
Het |
| Ankrd33 |
A |
T |
15: 101,017,432 (GRCm39) |
I282F |
probably damaging |
Het |
| Arhgap39 |
C |
T |
15: 76,619,383 (GRCm39) |
V734M |
probably damaging |
Het |
| Arsg |
T |
C |
11: 109,454,100 (GRCm39) |
|
probably null |
Het |
| Atp8b4 |
C |
T |
2: 126,245,301 (GRCm39) |
G283R |
probably benign |
Het |
| B3galnt2 |
T |
G |
13: 14,166,119 (GRCm39) |
L338* |
probably null |
Het |
| Cdc14a |
A |
T |
3: 116,216,296 (GRCm39) |
Y1* |
probably null |
Het |
| Ceacam16 |
T |
C |
7: 19,592,803 (GRCm39) |
E35G |
possibly damaging |
Het |
| Cfap46 |
T |
A |
7: 139,220,323 (GRCm39) |
D1244V |
possibly damaging |
Het |
| Chordc1 |
T |
C |
9: 18,223,274 (GRCm39) |
Y245H |
probably damaging |
Het |
| Col6a6 |
C |
A |
9: 105,579,469 (GRCm39) |
V1919F |
probably damaging |
Het |
| Colgalt1 |
T |
C |
8: 72,075,781 (GRCm39) |
V476A |
probably damaging |
Het |
| Cyfip2 |
T |
C |
11: 46,089,846 (GRCm39) |
D1189G |
probably damaging |
Het |
| Cyp27b1 |
T |
C |
10: 126,884,952 (GRCm39) |
Y72H |
possibly damaging |
Het |
| Dagla |
A |
G |
19: 10,248,378 (GRCm39) |
M94T |
probably benign |
Het |
| Dip2a |
A |
G |
10: 76,153,797 (GRCm39) |
S178P |
probably damaging |
Het |
| Dlec1 |
T |
C |
9: 118,967,858 (GRCm39) |
V1220A |
probably benign |
Het |
| Dpysl2 |
T |
C |
14: 67,105,840 (GRCm39) |
|
probably benign |
Het |
| E2f6 |
T |
C |
12: 16,868,884 (GRCm39) |
V69A |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,826,636 (GRCm39) |
T4439A |
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,663,418 (GRCm39) |
I1023M |
probably damaging |
Het |
| Gabrr2 |
G |
A |
4: 33,077,481 (GRCm39) |
V83M |
probably damaging |
Het |
| Gfral |
T |
C |
9: 76,100,485 (GRCm39) |
N318D |
probably benign |
Het |
| Gm5611 |
A |
T |
9: 16,942,073 (GRCm39) |
|
noncoding transcript |
Het |
| Gpat3 |
A |
T |
5: 101,041,046 (GRCm39) |
M369L |
probably benign |
Het |
| Grik5 |
T |
C |
7: 24,745,726 (GRCm39) |
D449G |
possibly damaging |
Het |
| Gucy2g |
T |
A |
19: 55,211,362 (GRCm39) |
T623S |
possibly damaging |
Het |
| H2-T22 |
T |
C |
17: 36,352,434 (GRCm39) |
T164A |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,404,881 (GRCm39) |
C4484S |
possibly damaging |
Het |
| Hira |
T |
C |
16: 18,766,164 (GRCm39) |
S659P |
probably damaging |
Het |
| Hoxa7 |
T |
C |
6: 52,194,307 (GRCm39) |
T27A |
possibly damaging |
Het |
| Hoxd1 |
T |
C |
2: 74,593,866 (GRCm39) |
S141P |
probably damaging |
Het |
| Kank1 |
C |
A |
19: 25,388,396 (GRCm39) |
Q690K |
probably benign |
Het |
| Kera |
A |
G |
10: 97,445,009 (GRCm39) |
K123E |
probably benign |
Het |
| Kifbp |
T |
C |
10: 62,395,106 (GRCm39) |
Y512C |
probably damaging |
Het |
| Lepr |
A |
C |
4: 101,592,874 (GRCm39) |
Y163S |
probably damaging |
Het |
| Leprotl1 |
T |
C |
8: 34,607,922 (GRCm39) |
I29V |
probably benign |
Het |
| Lrriq1 |
T |
G |
10: 102,997,620 (GRCm39) |
T1332P |
probably benign |
Het |
| Mrps15 |
A |
G |
4: 125,949,200 (GRCm39) |
K223E |
probably damaging |
Het |
| Mrps7 |
T |
A |
11: 115,497,811 (GRCm39) |
N225K |
probably benign |
Het |
| Nav3 |
T |
A |
10: 109,659,184 (GRCm39) |
D811V |
probably damaging |
Het |
| Ndst3 |
T |
A |
3: 123,342,587 (GRCm39) |
R741S |
probably damaging |
Het |
| Nos3 |
T |
C |
5: 24,575,131 (GRCm39) |
Y356H |
probably damaging |
Het |
| Nxpe3 |
A |
G |
16: 55,686,444 (GRCm39) |
V188A |
probably damaging |
Het |
| Or13n4 |
T |
C |
7: 106,423,317 (GRCm39) |
R139G |
probably benign |
Het |
| Or5p50 |
T |
A |
7: 107,422,578 (GRCm39) |
I33F |
probably benign |
Het |
| Or8j3b |
T |
C |
2: 86,205,487 (GRCm39) |
K90E |
possibly damaging |
Het |
| Pdia4 |
A |
T |
6: 47,773,695 (GRCm39) |
C551* |
probably null |
Het |
| Pex13 |
A |
G |
11: 23,605,513 (GRCm39) |
F239S |
probably damaging |
Het |
| Pigq |
A |
G |
17: 26,153,980 (GRCm39) |
M273T |
probably benign |
Het |
| Plppr2 |
C |
T |
9: 21,859,047 (GRCm39) |
P388L |
probably damaging |
Het |
| Polr3b |
C |
T |
10: 84,528,786 (GRCm39) |
Q737* |
probably null |
Het |
| Ppfibp1 |
T |
C |
6: 146,923,757 (GRCm39) |
|
probably null |
Het |
| Ppfibp2 |
C |
A |
7: 107,236,504 (GRCm39) |
D17E |
probably damaging |
Het |
| Pramel34 |
A |
T |
5: 93,785,545 (GRCm39) |
I245K |
probably benign |
Het |
| Prr35 |
T |
C |
17: 26,165,691 (GRCm39) |
D532G |
possibly damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,691,325 (GRCm39) |
D1064G |
probably benign |
Het |
| Qtrt2 |
A |
T |
16: 43,692,018 (GRCm39) |
S168T |
probably damaging |
Het |
| Rbp3 |
T |
C |
14: 33,676,601 (GRCm39) |
V183A |
probably benign |
Het |
| Shprh |
T |
C |
10: 11,062,655 (GRCm39) |
|
probably null |
Het |
| Slc39a10 |
T |
C |
1: 46,875,230 (GRCm39) |
H24R |
probably damaging |
Het |
| Slc7a13 |
A |
T |
4: 19,819,046 (GRCm39) |
H82L |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,782,569 (GRCm39) |
I502V |
probably benign |
Het |
| Syne2 |
C |
T |
12: 76,156,636 (GRCm39) |
R6811C |
probably damaging |
Het |
| Syt12 |
A |
G |
19: 4,506,911 (GRCm39) |
V78A |
probably benign |
Het |
| Tbck |
T |
A |
3: 132,543,772 (GRCm39) |
D874E |
probably benign |
Het |
| Tesc |
A |
T |
5: 118,184,394 (GRCm39) |
I25L |
probably damaging |
Het |
| Thoc5 |
T |
G |
11: 4,864,608 (GRCm39) |
D351E |
probably benign |
Het |
| Tor1aip1 |
A |
T |
1: 155,883,308 (GRCm39) |
M180K |
probably damaging |
Het |
| Trps1 |
T |
C |
15: 50,524,532 (GRCm39) |
S842G |
probably damaging |
Het |
| Unc79 |
A |
T |
12: 103,100,737 (GRCm39) |
T1858S |
probably damaging |
Het |
| Vmn1r193 |
T |
C |
13: 22,403,561 (GRCm39) |
T144A |
probably benign |
Het |
| Vwa8 |
T |
C |
14: 79,318,576 (GRCm39) |
F1046S |
probably benign |
Het |
| Wdr26 |
A |
T |
1: 181,019,340 (GRCm39) |
W346R |
probably damaging |
Het |
| Zfp740 |
T |
A |
15: 102,116,336 (GRCm39) |
V22E |
probably damaging |
Het |
| Zw10 |
C |
A |
9: 48,981,041 (GRCm39) |
S480R |
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 |
|
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 |
|
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'- GCTGATGTTTTGAGGAAATACAGAGC -3'
(R):5'- CTGGTGGTCACATAGTCTCCTC -3'
Sequencing Primer
(F):5'- TTGATATGGAATTCATCTCCAACAC -3'
(R):5'- GGTGGTCACATAGTCTCCTCTTCATG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation