Incidental Mutation 'R9097:Evc2'
| ID |
691408 |
| 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 |
068912-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9097 (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 37550505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 840
(F840I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056365]
|
| AlphaFold |
Q8K1G2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056365
AA Change: F840I
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000055130
Gene: ENSMUSG00000050248
AA Change: F840I
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
96% (50/52) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Antxrl |
G |
A |
14: 33,793,660 (GRCm39) |
V463I |
probably benign |
Het |
| Aox1 |
T |
A |
1: 58,326,887 (GRCm39) |
L162Q |
possibly damaging |
Het |
| Arhgap40 |
A |
T |
2: 158,389,584 (GRCm39) |
M586L |
probably benign |
Het |
| Arnt |
G |
T |
3: 95,397,588 (GRCm39) |
S535I |
probably benign |
Het |
| Bsx |
G |
T |
9: 40,785,636 (GRCm39) |
G55C |
probably damaging |
Het |
| Ccdc168 |
T |
C |
1: 44,098,049 (GRCm39) |
I1016M |
possibly damaging |
Het |
| Col9a1 |
A |
T |
1: 24,224,207 (GRCm39) |
I130F |
unknown |
Het |
| Cyp51 |
G |
T |
5: 4,149,172 (GRCm39) |
T235N |
possibly damaging |
Het |
| Depdc1a |
T |
A |
3: 159,204,117 (GRCm39) |
D55E |
probably benign |
Het |
| Dlc1 |
A |
T |
8: 37,080,721 (GRCm39) |
I10N |
probably benign |
Het |
| Dzank1 |
G |
T |
2: 144,316,882 (GRCm39) |
L767I |
possibly damaging |
Het |
| Eif3k |
A |
T |
7: 28,671,660 (GRCm39) |
*193K |
probably null |
Het |
| Eprs1 |
C |
A |
1: 185,139,303 (GRCm39) |
A896E |
probably benign |
Het |
| Fut2 |
G |
T |
7: 45,300,375 (GRCm39) |
H132Q |
probably benign |
Het |
| Gbp11 |
T |
C |
5: 105,474,347 (GRCm39) |
*443W |
probably null |
Het |
| Gimd1 |
T |
A |
3: 132,340,661 (GRCm39) |
M59K |
probably benign |
Het |
| Glis2 |
A |
G |
16: 4,429,640 (GRCm39) |
T228A |
probably damaging |
Het |
| Gm21663 |
G |
C |
5: 26,147,167 (GRCm39) |
C46W |
probably benign |
Het |
| Gpr162 |
A |
G |
6: 124,836,570 (GRCm39) |
I367T |
probably benign |
Het |
| Grik1 |
G |
A |
16: 87,732,796 (GRCm39) |
T692I |
|
Het |
| Igf2r |
G |
T |
17: 12,910,100 (GRCm39) |
A2043D |
probably damaging |
Het |
| Il12b |
C |
A |
11: 44,301,107 (GRCm39) |
L208M |
probably benign |
Het |
| Il12b |
T |
A |
11: 44,301,108 (GRCm39) |
L208Q |
probably damaging |
Het |
| Lrrk2 |
C |
T |
15: 91,557,459 (GRCm39) |
|
probably benign |
Het |
| Map3k9 |
T |
C |
12: 81,819,855 (GRCm39) |
D133G |
possibly damaging |
Het |
| Mrc2 |
A |
G |
11: 105,231,398 (GRCm39) |
D777G |
probably damaging |
Het |
| Mtrr |
A |
G |
13: 68,723,441 (GRCm39) |
L157P |
probably benign |
Het |
| Nol4l |
C |
A |
2: 153,312,630 (GRCm39) |
R226L |
probably damaging |
Het |
| Nsmaf |
CAAACTTTTAAACTT |
CAAACTT |
4: 6,416,543 (GRCm39) |
|
probably null |
Het |
| Or4f7 |
T |
A |
2: 111,644,196 (GRCm39) |
K292* |
probably null |
Het |
| Or51f23c-ps1 |
A |
G |
7: 102,431,475 (GRCm39) |
H264R |
probably damaging |
Het |
| Or5p73 |
A |
T |
7: 108,064,815 (GRCm39) |
I95F |
probably damaging |
Het |
| Or6c7 |
T |
A |
10: 129,323,647 (GRCm39) |
M256K |
possibly damaging |
Het |
| Or7g22 |
G |
A |
9: 19,048,670 (GRCm39) |
C127Y |
probably damaging |
Het |
| Or9g8 |
T |
A |
2: 85,607,669 (GRCm39) |
V247E |
probably damaging |
Het |
| Pkn2 |
C |
T |
3: 142,515,249 (GRCm39) |
R695Q |
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 4,906,012 (GRCm39) |
D189G |
probably damaging |
Het |
| Prkca |
A |
G |
11: 107,905,061 (GRCm39) |
S226P |
probably benign |
Het |
| Ptpru |
T |
C |
4: 131,499,843 (GRCm39) |
N1267S |
probably damaging |
Het |
| Retnlb |
T |
A |
16: 48,638,980 (GRCm39) |
|
probably benign |
Het |
| Rrp12 |
A |
T |
19: 41,878,577 (GRCm39) |
D189E |
probably benign |
Het |
| Serpinb7 |
G |
A |
1: 107,377,907 (GRCm39) |
C200Y |
probably damaging |
Het |
| Sez6 |
G |
A |
11: 77,865,121 (GRCm39) |
E623K |
possibly damaging |
Het |
| Stk32a |
A |
T |
18: 43,446,497 (GRCm39) |
M316L |
possibly damaging |
Het |
| Supt6 |
G |
T |
11: 78,113,100 (GRCm39) |
H948N |
probably benign |
Het |
| Sycp2l |
A |
T |
13: 41,300,070 (GRCm39) |
D428V |
possibly damaging |
Het |
| Tasp1 |
A |
T |
2: 139,725,690 (GRCm39) |
|
probably null |
Het |
| Telo2 |
T |
C |
17: 25,324,066 (GRCm39) |
T550A |
probably benign |
Het |
| Tmem131l |
A |
T |
3: 83,850,122 (GRCm39) |
N225K |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,888,622 (GRCm39) |
T1724A |
possibly damaging |
Het |
| Tyk2 |
C |
A |
9: 21,020,072 (GRCm39) |
E1029* |
probably null |
Het |
| Uhmk1 |
C |
T |
1: 170,042,879 (GRCm39) |
|
probably benign |
Het |
| Vav2 |
G |
A |
2: 27,181,850 (GRCm39) |
R330W |
probably damaging |
Het |
| Vmn1r16 |
A |
T |
6: 57,300,250 (GRCm39) |
I124N |
probably benign |
Het |
| Vmn1r181 |
A |
G |
7: 23,684,444 (GRCm39) |
N303S |
probably benign |
Het |
| Vmn1r50 |
G |
A |
6: 90,085,022 (GRCm39) |
V256I |
probably benign |
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 |
|
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 |
|
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'- AAATCCACTTCTTATGCAGCAC -3'
(R):5'- TACCCTGTGAATGCTCCTGC -3'
Sequencing Primer
(F):5'- CACCATGGCCTAGGGTTGAAATTTG -3'
(R):5'- TGCACATGGTCCTGGCTG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation