Incidental Mutation 'R7372:Evc2'
| ID |
572148 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Evc2
|
| Ensembl Gene |
ENSMUSG00000050248 |
| Gene Name |
EvC ciliary complex subunit 2 |
| Synonyms |
Ellis van Creveld syndrome 2, Lbn, limbin |
| MMRRC Submission |
045455-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7372 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
37495843-37582399 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37544477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 742
(V742E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056365]
|
| AlphaFold |
Q8K1G2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056365
AA Change: V742E
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000055130
Gene: ENSMUSG00000050248
AA Change: V742E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
59 |
N/A |
INTRINSIC |
|
Pfam:EVC2_like
|
147 |
570 |
2.1e-191 |
PFAM |
|
low complexity region
|
576 |
600 |
N/A |
INTRINSIC |
|
coiled coil region
|
617 |
644 |
N/A |
INTRINSIC |
|
low complexity region
|
780 |
791 |
N/A |
INTRINSIC |
|
low complexity region
|
902 |
914 |
N/A |
INTRINSIC |
|
coiled coil region
|
922 |
956 |
N/A |
INTRINSIC |
|
low complexity region
|
1057 |
1071 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
99% (68/69) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit perinatal lethality, short limbs and ribs, decreased osteoblast differentiation and abnormal chondrocyte physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
G |
A |
1: 156,450,189 (GRCm39) |
V119M |
probably damaging |
Het |
| Acss2 |
T |
C |
2: 155,399,100 (GRCm39) |
V454A |
probably damaging |
Het |
| Adam6b |
T |
A |
12: 113,453,784 (GRCm39) |
D200E |
probably benign |
Het |
| Adarb1 |
T |
A |
10: 77,131,712 (GRCm39) |
|
probably null |
Het |
| Aqp12 |
C |
T |
1: 92,934,088 (GRCm39) |
|
probably benign |
Het |
| Atrnl1 |
T |
C |
19: 57,924,078 (GRCm39) |
V1281A |
possibly damaging |
Het |
| Brdt |
A |
G |
5: 107,518,160 (GRCm39) |
E761G |
possibly damaging |
Het |
| Bsn |
A |
T |
9: 107,987,718 (GRCm39) |
I2678N |
unknown |
Het |
| C2cd2 |
A |
T |
16: 97,676,580 (GRCm39) |
C136S |
|
Het |
| Camk4 |
A |
G |
18: 33,318,178 (GRCm39) |
D445G |
probably benign |
Het |
| Cckar |
T |
C |
5: 53,864,624 (GRCm39) |
T26A |
probably damaging |
Het |
| Cd209a |
T |
A |
8: 3,798,857 (GRCm39) |
|
probably null |
Het |
| Cept1 |
A |
G |
3: 106,411,056 (GRCm39) |
F379S |
probably benign |
Het |
| Crhr1 |
A |
G |
11: 104,054,719 (GRCm39) |
|
probably null |
Het |
| Cryzl1 |
T |
C |
16: 91,509,085 (GRCm39) |
E72G |
probably benign |
Het |
| Ctnnal1 |
T |
A |
4: 56,826,285 (GRCm39) |
E526V |
possibly damaging |
Het |
| Cyp3a41a |
T |
C |
5: 145,650,374 (GRCm39) |
I90V |
possibly damaging |
Het |
| Dek |
T |
C |
13: 47,259,053 (GRCm39) |
E51G |
unknown |
Het |
| Dnaaf6rt |
A |
T |
1: 31,262,432 (GRCm39) |
D138V |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 38,944,358 (GRCm39) |
V1084M |
probably damaging |
Het |
| Fscb |
G |
A |
12: 64,518,598 (GRCm39) |
T956I |
unknown |
Het |
| Glipr2 |
T |
C |
4: 43,968,184 (GRCm39) |
L29P |
probably damaging |
Het |
| Gm19402 |
A |
T |
10: 77,526,261 (GRCm39) |
S111T |
unknown |
Het |
| Gm4553 |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
7: 141,719,157 (GRCm39) |
|
probably benign |
Het |
| Gnl3 |
T |
C |
14: 30,738,843 (GRCm39) |
K115E |
probably benign |
Het |
| Gpn1 |
T |
A |
5: 31,658,465 (GRCm39) |
F147I |
probably damaging |
Het |
| Gsdmd |
T |
A |
15: 75,737,618 (GRCm39) |
L232H |
probably benign |
Het |
| Helz2 |
A |
G |
2: 180,880,216 (GRCm39) |
V500A |
possibly damaging |
Het |
| Hemk1 |
T |
C |
9: 107,214,267 (GRCm39) |
E55G |
probably benign |
Het |
| Hs2st1 |
A |
T |
3: 144,141,221 (GRCm39) |
|
probably null |
Het |
| Ighv1-63 |
A |
G |
12: 115,459,486 (GRCm39) |
V37A |
probably damaging |
Het |
| Iqsec3 |
C |
A |
6: 121,360,991 (GRCm39) |
E956* |
probably null |
Het |
| Kcnh8 |
T |
A |
17: 53,201,129 (GRCm39) |
I521K |
probably damaging |
Het |
| Kif3c |
T |
A |
12: 3,437,592 (GRCm39) |
M531K |
probably benign |
Het |
| Kif5c |
T |
A |
2: 49,648,671 (GRCm39) |
|
probably null |
Het |
| Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
| Lcor |
T |
C |
19: 41,573,945 (GRCm39) |
L900P |
probably damaging |
Het |
| Lrrc32 |
A |
G |
7: 98,149,014 (GRCm39) |
D598G |
probably benign |
Het |
| Mug2 |
T |
C |
6: 122,060,425 (GRCm39) |
V1387A |
possibly damaging |
Het |
| Nin |
T |
A |
12: 70,102,803 (GRCm39) |
E275V |
|
Het |
| Or5p68 |
A |
G |
7: 107,945,703 (GRCm39) |
F162L |
probably benign |
Het |
| Papolg |
A |
G |
11: 23,816,439 (GRCm39) |
I698T |
probably benign |
Het |
| Pcdhb20 |
A |
G |
18: 37,639,840 (GRCm39) |
N789D |
probably benign |
Het |
| Pik3cg |
C |
T |
12: 32,247,196 (GRCm39) |
M842I |
probably damaging |
Het |
| Pnn |
T |
A |
12: 59,115,765 (GRCm39) |
D135E |
probably damaging |
Het |
| Pold1 |
C |
A |
7: 44,192,847 (GRCm39) |
R5L |
possibly damaging |
Het |
| Prl8a1 |
A |
T |
13: 27,758,089 (GRCm39) |
F207I |
probably damaging |
Het |
| Prr11 |
A |
G |
11: 86,989,600 (GRCm39) |
V257A |
probably benign |
Het |
| Prtg |
C |
T |
9: 72,758,848 (GRCm39) |
R401* |
probably null |
Het |
| Rasgrp1 |
A |
G |
2: 117,115,635 (GRCm39) |
M651T |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,695,885 (GRCm39) |
H2994L |
probably damaging |
Het |
| Snx13 |
A |
T |
12: 35,128,950 (GRCm39) |
I23L |
probably benign |
Het |
| Snx7 |
A |
G |
3: 117,576,000 (GRCm39) |
L429P |
probably damaging |
Het |
| Spta1 |
C |
T |
1: 174,025,201 (GRCm39) |
Q689* |
probably null |
Het |
| Spty2d1 |
T |
C |
7: 46,648,692 (GRCm39) |
D79G |
probably damaging |
Het |
| Tbc1d9b |
A |
G |
11: 50,059,515 (GRCm39) |
|
probably null |
Het |
| Tnxb |
T |
C |
17: 34,936,228 (GRCm39) |
F2722L |
possibly damaging |
Het |
| Tppp2 |
C |
T |
14: 52,156,865 (GRCm39) |
R81C |
probably benign |
Het |
| Trim6 |
G |
T |
7: 103,881,843 (GRCm39) |
A391S |
probably benign |
Het |
| Trim69 |
A |
C |
2: 122,009,064 (GRCm39) |
T375P |
possibly damaging |
Het |
| Trim72 |
A |
G |
7: 127,603,858 (GRCm39) |
N68S |
possibly damaging |
Het |
| Trrap |
G |
A |
5: 144,726,208 (GRCm39) |
V386I |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,778,275 (GRCm39) |
I1371V |
unknown |
Het |
| Usp17lb |
A |
T |
7: 104,490,913 (GRCm39) |
|
probably null |
Het |
| Vmn2r20 |
A |
T |
6: 123,362,468 (GRCm39) |
L772Q |
probably damaging |
Het |
| Ypel3 |
A |
G |
7: 126,379,200 (GRCm39) |
E91G |
probably benign |
Het |
| Zbtb21 |
C |
T |
16: 97,751,569 (GRCm39) |
E905K |
possibly damaging |
Het |
| Zfp189 |
T |
A |
4: 49,530,417 (GRCm39) |
C507S |
possibly damaging |
Het |
|
| Other mutations in Evc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00663:Evc2
|
APN |
5 |
37,579,235 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL01294:Evc2
|
APN |
5 |
37,504,854 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01547:Evc2
|
APN |
5 |
37,550,431 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02233:Evc2
|
APN |
5 |
37,535,681 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02253:Evc2
|
APN |
5 |
37,535,771 (GRCm39) |
splice site |
probably benign |
|
|
IGL02993:Evc2
|
APN |
5 |
37,576,501 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0010:Evc2
|
UTSW |
5 |
37,574,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0010:Evc2
|
UTSW |
5 |
37,574,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0324:Evc2
|
UTSW |
5 |
37,550,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0441:Evc2
|
UTSW |
5 |
37,574,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0454:Evc2
|
UTSW |
5 |
37,574,828 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1291:Evc2
|
UTSW |
5 |
37,544,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1433:Evc2
|
UTSW |
5 |
37,550,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1485:Evc2
|
UTSW |
5 |
37,527,900 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1491:Evc2
|
UTSW |
5 |
37,550,541 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1502:Evc2
|
UTSW |
5 |
37,550,440 (GRCm39) |
missense |
probably benign |
|
|
R1662:Evc2
|
UTSW |
5 |
37,506,094 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1891:Evc2
|
UTSW |
5 |
37,549,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1965:Evc2
|
UTSW |
5 |
37,520,876 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1983:Evc2
|
UTSW |
5 |
37,573,275 (GRCm39) |
nonsense |
probably null |
|
|
R2160:Evc2
|
UTSW |
5 |
37,537,862 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2237:Evc2
|
UTSW |
5 |
37,535,527 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3926:Evc2
|
UTSW |
5 |
37,540,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3953:Evc2
|
UTSW |
5 |
37,537,931 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3959:Evc2
|
UTSW |
5 |
37,573,120 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4281:Evc2
|
UTSW |
5 |
37,495,938 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4366:Evc2
|
UTSW |
5 |
37,496,013 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4707:Evc2
|
UTSW |
5 |
37,579,204 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4754:Evc2
|
UTSW |
5 |
37,544,375 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5373:Evc2
|
UTSW |
5 |
37,535,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5593:Evc2
|
UTSW |
5 |
37,544,321 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5697:Evc2
|
UTSW |
5 |
37,527,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5847:Evc2
|
UTSW |
5 |
37,562,068 (GRCm39) |
intron |
probably benign |
|
|
R5874:Evc2
|
UTSW |
5 |
37,574,883 (GRCm39) |
intron |
probably benign |
|
|
R6023:Evc2
|
UTSW |
5 |
37,505,960 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6285:Evc2
|
UTSW |
5 |
37,581,923 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6394:Evc2
|
UTSW |
5 |
37,535,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6567:Evc2
|
UTSW |
5 |
37,576,508 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6669:Evc2
|
UTSW |
5 |
37,535,722 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7039:Evc2
|
UTSW |
5 |
37,579,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7131:Evc2
|
UTSW |
5 |
37,567,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7144:Evc2
|
UTSW |
5 |
37,544,183 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7376:Evc2
|
UTSW |
5 |
37,527,983 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7607:Evc2
|
UTSW |
5 |
37,544,200 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7915:Evc2
|
UTSW |
5 |
37,544,206 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8144:Evc2
|
UTSW |
5 |
37,537,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8506:Evc2
|
UTSW |
5 |
37,540,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9097:Evc2
|
UTSW |
5 |
37,550,505 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9151:Evc2
|
UTSW |
5 |
37,504,823 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9261:Evc2
|
UTSW |
5 |
37,537,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9612:Evc2
|
UTSW |
5 |
37,544,130 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTGCAGCAGATCTTAGAGG -3'
(R):5'- CAAATCTTATTTGTCTGGGGATGGC -3'
Sequencing Primer
(F):5'- TCTTAGAGGAGCACAGCCG -3'
(R):5'- ATCATATGCTCAGATATCCTGCC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation