Incidental Mutation 'R7493:Cped1'
| ID |
580910 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cped1
|
| Ensembl Gene |
ENSMUSG00000062980 |
| Gene Name |
cadherin-like and PC-esterase domain containing 1 |
| Synonyms |
A430107O13Rik |
| MMRRC Submission |
045567-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R7493 (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 22215512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 682
(D682V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115383]
|
| AlphaFold |
B2RX70 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115383
AA Change: D682V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111041
Gene: ENSMUSG00000062980
AA Change: D682V
| 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: D544V
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (74/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
G |
14: 32,385,257 (GRCm39) |
L236P |
possibly damaging |
Het |
| Abca7 |
T |
A |
10: 79,837,896 (GRCm39) |
D488E |
probably damaging |
Het |
| Adora2a |
A |
G |
10: 75,169,423 (GRCm39) |
K296E |
possibly damaging |
Het |
| Aopep |
A |
G |
13: 63,163,345 (GRCm39) |
D122G |
probably benign |
Het |
| Atp13a4 |
T |
A |
16: 29,290,774 (GRCm39) |
E225V |
|
Het |
| Bpifb2 |
A |
G |
2: 153,731,397 (GRCm39) |
M258V |
possibly damaging |
Het |
| Brd2 |
G |
A |
17: 34,341,231 (GRCm39) |
|
probably benign |
Het |
| Btaf1 |
G |
T |
19: 36,987,005 (GRCm39) |
V1700F |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,076,433 (GRCm39) |
I797V |
|
Het |
| Ccdc148 |
T |
G |
2: 58,899,160 (GRCm39) |
E71A |
probably damaging |
Het |
| Ccdc18 |
T |
A |
5: 108,354,483 (GRCm39) |
L1074* |
probably null |
Het |
| Ccne2 |
A |
G |
4: 11,198,772 (GRCm39) |
D215G |
probably damaging |
Het |
| Cers6 |
T |
A |
2: 68,692,151 (GRCm39) |
|
probably null |
Het |
| Copz1 |
A |
G |
15: 103,204,971 (GRCm39) |
E110G |
probably damaging |
Het |
| Crb1 |
A |
T |
1: 139,164,768 (GRCm39) |
C1180S |
probably damaging |
Het |
| Cyren |
A |
T |
6: 34,851,593 (GRCm39) |
L114Q |
probably damaging |
Het |
| Echdc3 |
A |
T |
2: 6,194,368 (GRCm39) |
L229Q |
probably damaging |
Het |
| Etfb |
C |
T |
7: 43,104,000 (GRCm39) |
P145L |
probably damaging |
Het |
| Exoc3l2 |
G |
T |
7: 19,203,813 (GRCm39) |
R135L |
|
Het |
| Fam83a |
G |
A |
15: 57,849,569 (GRCm39) |
A38T |
probably damaging |
Het |
| G6pc2 |
T |
C |
2: 69,053,344 (GRCm39) |
Y133H |
probably benign |
Het |
| Gfy |
T |
C |
7: 44,827,518 (GRCm39) |
I193V |
probably benign |
Het |
| Ggnbp2 |
T |
C |
11: 84,744,899 (GRCm39) |
T208A |
probably benign |
Het |
| Gigyf1 |
T |
A |
5: 137,523,795 (GRCm39) |
M1019K |
probably damaging |
Het |
| Gm45783 |
T |
C |
7: 7,373,599 (GRCm39) |
D61G |
probably damaging |
Het |
| Golga5 |
T |
C |
12: 102,450,835 (GRCm39) |
|
probably null |
Het |
| Ighe |
A |
G |
12: 113,235,023 (GRCm39) |
V379A |
|
Het |
| Itpr3 |
C |
A |
17: 27,313,774 (GRCm39) |
H573Q |
probably benign |
Het |
| Klhl2 |
A |
G |
8: 65,202,809 (GRCm39) |
L463P |
probably damaging |
Het |
| Large1 |
T |
G |
8: 73,550,343 (GRCm39) |
M619L |
probably benign |
Het |
| Limd1 |
T |
A |
9: 123,308,748 (GRCm39) |
V149E |
probably benign |
Het |
| Lyz2 |
T |
C |
10: 117,118,144 (GRCm39) |
K2E |
probably damaging |
Het |
| Man2c1 |
T |
A |
9: 57,048,412 (GRCm39) |
S858T |
probably damaging |
Het |
| Nt5dc1 |
A |
T |
10: 34,180,932 (GRCm39) |
N439K |
probably benign |
Het |
| Or4a2 |
A |
G |
2: 89,248,145 (GRCm39) |
I204T |
probably benign |
Het |
| Or4n4b |
G |
A |
14: 50,536,281 (GRCm39) |
L162F |
probably benign |
Het |
| Or4p7 |
T |
C |
2: 88,222,224 (GRCm39) |
V211A |
possibly damaging |
Het |
| Or51f1 |
A |
T |
7: 102,506,278 (GRCm39) |
Y70* |
probably null |
Het |
| Or5d43 |
T |
C |
2: 88,105,445 (GRCm39) |
|
probably benign |
Het |
| Or7g27 |
A |
C |
9: 19,250,109 (GRCm39) |
M118L |
probably damaging |
Het |
| Otogl |
T |
C |
10: 107,722,843 (GRCm39) |
N296S |
probably benign |
Het |
| Patj |
A |
G |
4: 98,383,298 (GRCm39) |
N789D |
probably benign |
Het |
| Pcsk6 |
A |
G |
7: 65,693,314 (GRCm39) |
D851G |
possibly damaging |
Het |
| Peg3 |
T |
C |
7: 6,712,723 (GRCm39) |
H833R |
probably damaging |
Het |
| Pira1 |
T |
C |
7: 3,742,023 (GRCm39) |
E119G |
not run |
Het |
| Plekha5 |
A |
G |
6: 140,526,161 (GRCm39) |
D933G |
probably benign |
Het |
| Pnma1 |
G |
A |
12: 84,193,903 (GRCm39) |
R267C |
probably damaging |
Het |
| Ppp3cb |
T |
A |
14: 20,558,619 (GRCm39) |
H481L |
probably benign |
Het |
| Prl8a8 |
T |
C |
13: 27,695,418 (GRCm39) |
|
probably null |
Het |
| Ptma |
GGAAGAAG |
GGAAGAAGAAG |
1: 86,457,261 (GRCm39) |
|
probably benign |
Het |
| Ptpro |
C |
A |
6: 137,359,647 (GRCm39) |
L406I |
probably benign |
Het |
| Rbpj |
T |
C |
5: 53,758,276 (GRCm39) |
S18P |
probably benign |
Het |
| Rhbg |
C |
T |
3: 88,154,886 (GRCm39) |
V173M |
probably damaging |
Het |
| Rps6kc1 |
A |
G |
1: 190,532,254 (GRCm39) |
S583P |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,794,630 (GRCm39) |
S1217G |
probably benign |
Het |
| S1pr1 |
A |
T |
3: 115,505,922 (GRCm39) |
I224N |
probably damaging |
Het |
| Sall1 |
C |
T |
8: 89,757,681 (GRCm39) |
D808N |
probably benign |
Het |
| Shoc2 |
T |
C |
19: 53,976,467 (GRCm39) |
V119A |
probably benign |
Het |
| Spata31h1 |
A |
T |
10: 82,124,798 (GRCm39) |
Y2737* |
probably null |
Het |
| Spata31h1 |
T |
C |
10: 82,152,264 (GRCm39) |
Y34C |
unknown |
Het |
| Ssh2 |
A |
T |
11: 77,328,542 (GRCm39) |
E369D |
probably benign |
Het |
| Stx1b |
C |
T |
7: 127,406,531 (GRCm39) |
V273M |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 76,012,654 (GRCm39) |
H2615R |
probably benign |
Het |
| Tmc8 |
T |
C |
11: 117,675,758 (GRCm39) |
I225T |
probably benign |
Het |
| Tmem126b |
A |
G |
7: 90,121,854 (GRCm39) |
I52T |
probably benign |
Het |
| Top2b |
G |
A |
14: 16,416,605 (GRCm38) |
D1122N |
probably benign |
Het |
| Trav13-2 |
T |
A |
14: 53,872,363 (GRCm39) |
S7T |
possibly damaging |
Het |
| Ttc1 |
A |
T |
11: 43,636,189 (GRCm39) |
L18Q |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,567,553 (GRCm39) |
I27780N |
probably damaging |
Het |
| Ubfd1 |
T |
C |
7: 121,666,635 (GRCm39) |
S44P |
probably benign |
Het |
| Vmn1r89 |
A |
G |
7: 12,953,632 (GRCm39) |
K123E |
probably damaging |
Het |
| Vmn2r62 |
A |
C |
7: 42,437,316 (GRCm39) |
F389L |
possibly damaging |
Het |
| Vps35l |
C |
T |
7: 118,393,800 (GRCm39) |
|
probably null |
Het |
| Zdhhc11 |
T |
A |
13: 74,121,726 (GRCm39) |
M79K |
possibly damaging |
Het |
| Zfp202 |
G |
T |
9: 40,118,640 (GRCm39) |
V18F |
possibly damaging |
Het |
| Zfp39 |
A |
G |
11: 58,781,869 (GRCm39) |
F298L |
possibly damaging |
Het |
| Znrf1 |
G |
A |
8: 112,264,071 (GRCm39) |
G100D |
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 |
|
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 |
|
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'- GTCTATGAGATGCCAACCTCAG -3'
(R):5'- AACATGTGCCTATAGACCAAGGG -3'
Sequencing Primer
(F):5'- TCATTGAACAACCTCAGGAGC -3'
(R):5'- CCAAGGGGTCTATTTTAGAGAAAGG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation