Incidental Mutation 'R0128:Cped1'
ID |
60510 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cped1
|
Ensembl Gene |
ENSMUSG00000062980 |
Gene Name |
cadherin-like and PC-esterase domain containing 1 |
Synonyms |
A430107O13Rik |
MMRRC Submission |
038413-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R0128 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
21985915-22256403 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 22121038 bp (GRCm39)
|
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: 97.6%
- 10x: 93.0%
- 20x: 79.3%
|
Validation Efficiency |
99% (84/85) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
A |
G |
6: 128,552,602 (GRCm39) |
|
probably benign |
Het |
Abcd4 |
T |
G |
12: 84,659,126 (GRCm39) |
Q210P |
possibly damaging |
Het |
Ablim2 |
G |
A |
5: 35,966,520 (GRCm39) |
|
probably benign |
Het |
Acte1 |
G |
T |
7: 143,445,492 (GRCm39) |
G178C |
probably damaging |
Het |
Actl6b |
A |
G |
5: 137,553,327 (GRCm39) |
N113S |
probably benign |
Het |
Actn3 |
A |
T |
19: 4,921,643 (GRCm39) |
V179E |
probably damaging |
Het |
Aff4 |
C |
A |
11: 53,306,293 (GRCm39) |
T1145N |
probably damaging |
Het |
Ankrd42 |
G |
A |
7: 92,241,067 (GRCm39) |
Q431* |
probably null |
Het |
Anxa9 |
A |
G |
3: 95,209,733 (GRCm39) |
S129P |
probably benign |
Het |
Arfgef2 |
T |
G |
2: 166,677,639 (GRCm39) |
I88S |
probably damaging |
Het |
Asap3 |
C |
A |
4: 135,961,915 (GRCm39) |
N285K |
probably damaging |
Het |
Atp6v0a2 |
A |
G |
5: 124,790,248 (GRCm39) |
N477S |
probably damaging |
Het |
Atp7b |
C |
T |
8: 22,518,188 (GRCm39) |
E205K |
possibly damaging |
Het |
Atp8b5 |
T |
A |
4: 43,369,715 (GRCm39) |
|
probably null |
Het |
C87436 |
G |
A |
6: 86,446,809 (GRCm39) |
G533D |
probably damaging |
Het |
Ccdc138 |
T |
A |
10: 58,364,182 (GRCm39) |
I314N |
probably damaging |
Het |
Ccs |
A |
G |
19: 4,875,654 (GRCm39) |
F237S |
probably damaging |
Het |
Ccz1 |
T |
G |
5: 143,946,112 (GRCm39) |
|
probably benign |
Het |
Cdcp2 |
C |
T |
4: 106,963,904 (GRCm39) |
|
probably benign |
Het |
Chd1 |
A |
G |
17: 17,613,829 (GRCm39) |
N531S |
probably damaging |
Het |
Clptm1 |
A |
T |
7: 19,368,932 (GRCm39) |
F476I |
probably damaging |
Het |
Colec12 |
C |
T |
18: 9,858,921 (GRCm39) |
P568L |
unknown |
Het |
Cr2 |
A |
T |
1: 194,848,539 (GRCm39) |
V328D |
probably damaging |
Het |
D630045J12Rik |
A |
T |
6: 38,126,706 (GRCm39) |
|
probably benign |
Het |
Dcdc2a |
A |
T |
13: 25,371,655 (GRCm39) |
|
probably benign |
Het |
Dlg1 |
G |
T |
16: 31,676,883 (GRCm39) |
|
probably null |
Het |
Epb41l5 |
A |
C |
1: 119,477,632 (GRCm39) |
V705G |
possibly damaging |
Het |
Ergic3 |
C |
A |
2: 155,853,060 (GRCm39) |
R43S |
possibly damaging |
Het |
Flnb |
T |
C |
14: 7,901,951 (GRCm38) |
V938A |
probably damaging |
Het |
Frmd4a |
T |
C |
2: 4,608,903 (GRCm39) |
Y928H |
probably damaging |
Het |
Fyn |
C |
T |
10: 39,387,978 (GRCm39) |
T78M |
probably benign |
Het |
Gdap2 |
A |
G |
3: 100,109,311 (GRCm39) |
T443A |
probably damaging |
Het |
Ghrl |
A |
T |
6: 113,694,129 (GRCm39) |
|
probably benign |
Het |
Gm4787 |
T |
A |
12: 81,424,521 (GRCm39) |
K546* |
probably null |
Het |
Gm6576 |
C |
G |
15: 27,026,086 (GRCm39) |
|
noncoding transcript |
Het |
Got1 |
C |
T |
19: 43,512,816 (GRCm39) |
D27N |
probably benign |
Het |
Gucy2c |
C |
T |
6: 136,681,247 (GRCm39) |
V946I |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,487,306 (GRCm39) |
Y3434H |
possibly damaging |
Het |
Hp1bp3 |
C |
T |
4: 137,964,520 (GRCm39) |
S348F |
probably damaging |
Het |
Itpr1 |
A |
G |
6: 108,448,170 (GRCm39) |
|
probably benign |
Het |
Kctd1 |
G |
A |
18: 15,107,237 (GRCm39) |
P743S |
probably benign |
Het |
Klhl23 |
T |
C |
2: 69,664,310 (GRCm39) |
V553A |
probably damaging |
Het |
Krt24 |
T |
C |
11: 99,171,093 (GRCm39) |
D495G |
probably damaging |
Het |
L3hypdh |
C |
T |
12: 72,123,917 (GRCm39) |
|
probably null |
Het |
Lipo3 |
C |
T |
19: 33,534,506 (GRCm39) |
|
probably null |
Het |
Lman2l |
G |
T |
1: 36,463,945 (GRCm39) |
S171* |
probably null |
Het |
Lrp1b |
T |
C |
2: 41,401,520 (GRCm39) |
D378G |
probably damaging |
Het |
Map3k4 |
T |
A |
17: 12,466,950 (GRCm39) |
D1104V |
probably damaging |
Het |
Mpeg1 |
T |
C |
19: 12,438,587 (GRCm39) |
V15A |
probably benign |
Het |
Narf |
C |
T |
11: 121,141,662 (GRCm39) |
R356C |
probably damaging |
Het |
Nebl |
T |
A |
2: 17,397,834 (GRCm39) |
Q487H |
possibly damaging |
Het |
Olfm5 |
G |
A |
7: 103,810,133 (GRCm39) |
A76V |
probably benign |
Het |
Or1j11 |
T |
A |
2: 36,312,299 (GRCm39) |
D296E |
probably benign |
Het |
Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
Or52p1 |
A |
T |
7: 104,267,788 (GRCm39) |
I301F |
probably damaging |
Het |
Or5ak22 |
T |
A |
2: 85,230,305 (GRCm39) |
S191C |
probably damaging |
Het |
Or8k40 |
T |
C |
2: 86,584,231 (GRCm39) |
M284V |
probably benign |
Het |
Palb2 |
A |
T |
7: 121,727,389 (GRCm39) |
Y160* |
probably null |
Het |
Pasd1 |
T |
C |
X: 70,983,161 (GRCm39) |
C378R |
possibly damaging |
Het |
Paxip1 |
C |
T |
5: 27,949,183 (GRCm39) |
|
probably benign |
Het |
Pclo |
A |
G |
5: 14,729,811 (GRCm39) |
|
probably benign |
Het |
Pdcd11 |
G |
A |
19: 47,108,301 (GRCm39) |
V1223I |
probably benign |
Het |
Pde6c |
T |
C |
19: 38,157,813 (GRCm39) |
|
probably benign |
Het |
Prr12 |
A |
G |
7: 44,699,463 (GRCm39) |
|
probably benign |
Het |
Prss39 |
T |
A |
1: 34,541,281 (GRCm39) |
|
probably benign |
Het |
Samd5 |
A |
G |
10: 9,550,683 (GRCm39) |
W9R |
probably damaging |
Het |
Sfr1 |
A |
G |
19: 47,723,457 (GRCm39) |
*320W |
probably null |
Het |
Sft2d1rt |
A |
G |
11: 45,943,120 (GRCm39) |
M1T |
probably null |
Het |
Sh3bp4 |
A |
G |
1: 89,073,036 (GRCm39) |
N628S |
possibly damaging |
Het |
Sim1 |
A |
T |
10: 50,784,057 (GRCm39) |
I104F |
probably damaging |
Het |
Slc1a3 |
T |
C |
15: 8,665,693 (GRCm39) |
M519V |
probably benign |
Het |
Smcp |
T |
A |
3: 92,491,827 (GRCm39) |
T7S |
unknown |
Het |
Sp4 |
A |
G |
12: 118,264,551 (GRCm39) |
|
probably benign |
Het |
Spag9 |
T |
A |
11: 93,984,365 (GRCm39) |
I327N |
probably damaging |
Het |
Thbs4 |
G |
T |
13: 92,890,918 (GRCm39) |
H850N |
probably benign |
Het |
Ubap2l |
A |
T |
3: 89,928,680 (GRCm39) |
S478T |
possibly damaging |
Het |
Unc79 |
A |
G |
12: 103,054,693 (GRCm39) |
|
probably benign |
Het |
Vmn2r85 |
A |
G |
10: 130,255,054 (GRCm39) |
|
probably benign |
Het |
Wrap73 |
A |
G |
4: 154,226,957 (GRCm39) |
D19G |
possibly 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 |
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 |
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'- AAATGGGGTCACCTCTGTTCTCGG -3'
(R):5'- ACAGATTCCCCACTTGTTAGGAGCC -3'
Sequencing Primer
(F):5'- AGAGAGAGGTGCTCATTCCC -3'
(R):5'- TCAGCCTGTACTGACTGCAA -3'
|
Posted On |
2013-07-24 |