Incidental Mutation 'R5373:Evc2'
| ID |
428857 |
| 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 |
042949-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5373 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
37495843-37582399 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 37535554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 410
(R410W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056365]
|
| AlphaFold |
Q8K1G2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056365
AA Change: R410W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055130
Gene: ENSMUSG00000050248
AA Change: R410W
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000101258
|
| Meta Mutation Damage Score |
0.1473 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
96% (74/77) |
| 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 |
|---|
| 1110002E22Rik |
A |
G |
3: 137,773,396 (GRCm39) |
S862G |
probably benign |
Het |
| Abcb5 |
G |
T |
12: 118,850,912 (GRCm39) |
T887K |
probably damaging |
Het |
| Adgrf1 |
G |
A |
17: 43,601,896 (GRCm39) |
|
probably benign |
Het |
| Adss2 |
T |
G |
1: 177,623,954 (GRCm39) |
I3L |
probably benign |
Het |
| Anapc7 |
T |
A |
5: 122,576,280 (GRCm39) |
D302E |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,789,306 (GRCm39) |
|
probably null |
Het |
| Arpp21 |
T |
G |
9: 111,896,336 (GRCm39) |
M687L |
probably benign |
Het |
| Camkv |
T |
C |
9: 107,824,088 (GRCm39) |
S221P |
probably benign |
Het |
| Ccdc88a |
C |
T |
11: 29,413,409 (GRCm39) |
T649M |
possibly damaging |
Het |
| Cdh12 |
A |
C |
15: 21,583,998 (GRCm39) |
S613R |
probably damaging |
Het |
| Chsy1 |
C |
T |
7: 65,759,824 (GRCm39) |
Q56* |
probably null |
Het |
| Cisd2 |
A |
G |
3: 135,114,596 (GRCm39) |
V125A |
probably benign |
Het |
| Cntnap2 |
T |
A |
6: 47,084,903 (GRCm39) |
H1121Q |
probably benign |
Het |
| Corin |
A |
T |
5: 72,462,296 (GRCm39) |
C876S |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,300,287 (GRCm39) |
V3198A |
unknown |
Het |
| Cspp1 |
T |
G |
1: 10,204,351 (GRCm39) |
L1038R |
probably damaging |
Het |
| Cwc15 |
A |
G |
9: 14,416,234 (GRCm39) |
K147E |
possibly damaging |
Het |
| Dlgap2 |
A |
G |
8: 14,873,614 (GRCm39) |
D739G |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,276,473 (GRCm39) |
|
probably benign |
Het |
| Dnajc6 |
T |
C |
4: 101,472,824 (GRCm39) |
I317T |
probably damaging |
Het |
| Dpysl3 |
T |
C |
18: 43,494,101 (GRCm39) |
Y193C |
probably damaging |
Het |
| Dtna |
T |
C |
18: 23,784,670 (GRCm39) |
Y730H |
probably damaging |
Het |
| Dusp3 |
A |
G |
11: 101,875,451 (GRCm39) |
Y38H |
possibly damaging |
Het |
| Eif3m |
A |
T |
2: 104,843,277 (GRCm39) |
I151N |
probably damaging |
Het |
| Eml2 |
A |
T |
7: 18,913,188 (GRCm39) |
D62V |
possibly damaging |
Het |
| Epb41l3 |
C |
A |
17: 69,593,795 (GRCm39) |
H810N |
probably damaging |
Het |
| Fam169b |
T |
C |
7: 67,950,586 (GRCm39) |
Y13H |
probably damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,353,698 (GRCm39) |
T348A |
probably benign |
Het |
| Fezf2 |
A |
T |
14: 12,344,803 (GRCm38) |
V128E |
possibly damaging |
Het |
| Ighv3-5 |
A |
G |
12: 114,226,573 (GRCm39) |
S18P |
probably damaging |
Het |
| Kcnq5 |
T |
A |
1: 22,031,795 (GRCm39) |
H4L |
unknown |
Het |
| Kdm5d |
C |
T |
Y: 927,995 (GRCm39) |
P756S |
probably benign |
Het |
| Lig1 |
AG |
A |
7: 13,039,849 (GRCm39) |
|
probably null |
Het |
| Ly75 |
A |
T |
2: 60,142,115 (GRCm39) |
L1332M |
possibly damaging |
Het |
| Med1 |
T |
A |
11: 98,054,789 (GRCm39) |
K378N |
probably damaging |
Het |
| Mn1 |
A |
G |
5: 111,569,752 (GRCm39) |
|
probably null |
Het |
| Mpo |
T |
C |
11: 87,694,437 (GRCm39) |
|
probably null |
Het |
| Mtfr2 |
G |
T |
10: 20,228,598 (GRCm39) |
C48F |
probably benign |
Het |
| Nt5c |
G |
A |
11: 115,381,643 (GRCm39) |
|
probably null |
Het |
| Pcdhga4 |
T |
C |
18: 37,818,649 (GRCm39) |
V66A |
probably damaging |
Het |
| Pik3c3 |
T |
C |
18: 30,445,614 (GRCm39) |
S534P |
probably benign |
Het |
| Pla2g4e |
A |
T |
2: 120,016,876 (GRCm39) |
C222S |
probably benign |
Het |
| Plch1 |
A |
C |
3: 63,605,499 (GRCm39) |
H1468Q |
probably benign |
Het |
| Psd2 |
T |
A |
18: 36,140,556 (GRCm39) |
W610R |
probably damaging |
Het |
| Ptgs1 |
A |
T |
2: 36,141,198 (GRCm39) |
K548N |
probably damaging |
Het |
| Ptpn14 |
T |
C |
1: 189,583,160 (GRCm39) |
M669T |
probably benign |
Het |
| Ptprf |
G |
T |
4: 118,083,238 (GRCm39) |
T923K |
possibly damaging |
Het |
| Ptprg |
A |
G |
14: 12,213,665 (GRCm38) |
N1011S |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 23,007,354 (GRCm39) |
V1639E |
probably damaging |
Het |
| Rgsl1 |
C |
T |
1: 153,666,053 (GRCm39) |
V986I |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Rxfp2 |
A |
G |
5: 149,993,725 (GRCm39) |
T596A |
probably benign |
Het |
| Serpina3j |
A |
G |
12: 104,280,986 (GRCm39) |
D53G |
probably damaging |
Het |
| Slc26a7 |
A |
T |
4: 14,546,447 (GRCm39) |
I294N |
probably damaging |
Het |
| Slirp |
T |
C |
12: 87,496,192 (GRCm39) |
S96P |
possibly damaging |
Het |
| Snx6 |
T |
C |
12: 54,817,513 (GRCm39) |
E128G |
probably damaging |
Het |
| Spata6 |
T |
A |
4: 111,680,031 (GRCm39) |
|
probably null |
Het |
| Stap1 |
A |
G |
5: 86,238,787 (GRCm39) |
T152A |
possibly damaging |
Het |
| Susd5 |
G |
A |
9: 113,911,653 (GRCm39) |
G188R |
probably damaging |
Het |
| Thap2 |
A |
T |
10: 115,208,744 (GRCm39) |
Y125* |
probably null |
Het |
| Tnrc18 |
G |
A |
5: 142,725,911 (GRCm39) |
R1793C |
unknown |
Het |
| Ugt1a10 |
T |
A |
1: 87,983,632 (GRCm39) |
D143E |
probably damaging |
Het |
| Vmn1r85 |
A |
T |
7: 12,818,255 (GRCm39) |
Y296* |
probably null |
Het |
| Vmn2r71 |
C |
T |
7: 85,267,750 (GRCm39) |
T68I |
possibly damaging |
Het |
| Zc3h6 |
A |
T |
2: 128,844,076 (GRCm39) |
I207F |
possibly damaging |
Het |
| Zfp518a |
T |
C |
19: 40,901,954 (GRCm39) |
S628P |
probably benign |
Het |
| Zfp85 |
T |
C |
13: 67,897,577 (GRCm39) |
Y165C |
probably damaging |
Het |
| Zup1 |
T |
C |
10: 33,803,462 (GRCm39) |
N541D |
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 |
|
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 |
|
R7372:Evc2
|
UTSW |
5 |
37,544,477 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- GCATGACATGTGCATGCAATAC -3'
(R):5'- AGCATCATTTTAGCCACCTCAGG -3'
Sequencing Primer
(F):5'- GACATGTGCATGCAATACAATGTGTG -3'
(R):5'- GGCCTCAGTTCCCCTTTGGAG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation