Mutagenetix > Incidental Mutation

Incidental Mutation 'R9612:Evc2'

724292

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9612 (G1)

Quality Score

199.009

Status

Not validated

Chromosome

Chromosomal Location

37495843-37582399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 37544130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 626 (E626D)

Ref Sequence

ENSEMBL: ENSMUSP00000055130 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056365]

AlphaFold

Q8K1G2

Predicted Effect

probably benign
Transcript: ENSMUST00000056365
AA Change: E626D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000055130
Gene: ENSMUSG00000050248
AA Change: E626D

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: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	C	7: 41,276,327 (GRCm39)	S677P	possibly damaging	Het
5730480H06Rik	A	G	5: 48,531,872 (GRCm39)	I67V	probably benign	Het
Adam15	T	A	3: 89,249,247 (GRCm39)	Y736F	probably damaging	Het
Adam29	A	T	8: 56,325,118 (GRCm39)	F445L	possibly damaging	Het
Adgrv1	A	G	13: 81,641,082 (GRCm39)	Y3318H	probably damaging	Het
Akap6	A	G	12: 52,958,690 (GRCm39)	Y815C	probably damaging	Het
Ankar	T	A	1: 72,704,294 (GRCm39)	D876V	possibly damaging	Het
Atp6v1g2	G	A	17: 35,456,733 (GRCm39)	V106I	probably benign	Het
Bdp1	A	G	13: 100,214,370 (GRCm39)	S490P	probably benign	Het
Bet1	A	T	6: 4,077,918 (GRCm39)	V107D	probably damaging	Het
Bri3bp	T	C	5: 125,531,390 (GRCm39)	V112A	probably damaging	Het
Cage1	T	A	13: 38,216,351 (GRCm39)	D33V	probably damaging	Het
Ccdc146	G	T	5: 21,535,577 (GRCm39)	A159E	probably damaging	Het
Ccnl1	C	A	3: 65,865,404 (GRCm39)	G49V	probably damaging	Het
Cdk13	A	C	13: 17,926,440 (GRCm39)	F787V		Het
Cdk5r1	T	C	11: 80,368,480 (GRCm39)	V49A	probably benign	Het
Cdon	G	A	9: 35,398,201 (GRCm39)	V973I	probably damaging	Het
Cfap298	A	T	16: 90,724,275 (GRCm39)	M166K	probably benign	Het
Chd1l	T	A	3: 97,488,463 (GRCm39)	K518*	probably null	Het
Col24a1	A	G	3: 145,250,960 (GRCm39)	D1653G	probably benign	Het
Cstf3	G	T	2: 104,483,370 (GRCm39)	V359F	possibly damaging	Het
Dchs2	T	C	3: 83,178,193 (GRCm39)	I1082T	probably damaging	Het
Dlec1	A	T	9: 118,956,533 (GRCm39)	I736F	probably damaging	Het
Dnah9	T	C	11: 65,818,475 (GRCm39)	N3288D	probably benign	Het
Dpcd	G	T	19: 45,560,422 (GRCm39)	E82*	probably null	Het
Ehbp1	T	C	11: 22,119,124 (GRCm39)	D182G	probably damaging	Het
Eif1ad13	A	G	12: 87,762,507 (GRCm39)	I76V	probably benign	Het
Evi5	T	C	5: 107,943,578 (GRCm39)	E589G	probably benign	Het
Exoc4	T	C	6: 33,226,161 (GRCm39)	I25T	probably benign	Het
Extl2	T	A	3: 115,821,145 (GRCm39)	*331R	probably null	Het
Fkbp8	G	A	8: 70,984,324 (GRCm39)	R225H	probably damaging	Het
Foxred2	A	T	15: 77,836,206 (GRCm39)	S384T	probably damaging	Het
Garre1	A	T	7: 33,947,656 (GRCm39)	C451S	probably damaging	Het
Glmn	T	C	5: 107,741,731 (GRCm39)	E18G	probably damaging	Het
Gm7489	A	C	15: 53,749,369 (GRCm39)	Q147P	unknown	Het
Gm7489	C	A	15: 53,749,368 (GRCm39)	Q147K	unknown	Het
Gm8005	T	A	14: 42,260,355 (GRCm39)	I94F		Het
Golgb1	G	A	16: 36,739,967 (GRCm39)	V2810M	probably benign	Het
Gpr21	T	C	2: 37,408,399 (GRCm39)	L315P	probably damaging	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Herc6	T	G	6: 57,629,017 (GRCm39)	S643A	probably benign	Het
Igkv14-100	T	A	6: 68,496,317 (GRCm39)	I70N	probably damaging	Het
Kcnn3	A	G	3: 89,516,703 (GRCm39)	M371V	probably benign	Het
Kif1a	T	A	1: 92,953,416 (GRCm39)	H1256L	probably damaging	Het
Klhdc4	A	G	8: 122,527,917 (GRCm39)	S266P	possibly damaging	Het
Kmt2d	CTGTTG	CTG	15: 98,743,057 (GRCm39)		probably benign	Het
Lefty2	T	A	1: 180,722,286 (GRCm39)	L208Q	probably damaging	Het
Lingo2	T	C	4: 35,708,450 (GRCm39)	Y510C	probably damaging	Het
Lrif1	T	A	3: 106,639,200 (GRCm39)	V70D	probably damaging	Het
Lrrc74a	A	T	12: 86,805,345 (GRCm39)	K389I	possibly damaging	Het
Megf8	A	T	7: 25,054,488 (GRCm39)	E1868V	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mmp8	A	G	9: 7,560,608 (GRCm39)	D95G	probably damaging	Het
Mmrn1	T	A	6: 60,953,408 (GRCm39)	I563N	probably damaging	Het
Mroh3	T	C	1: 136,118,713 (GRCm39)	T535A	probably benign	Het
Mroh9	A	G	1: 162,866,498 (GRCm39)	L715P	probably damaging	Het
Myh6	G	T	14: 55,201,054 (GRCm39)	A136E	probably benign	Het
Myom1	G	T	17: 71,412,475 (GRCm39)	E1231*	probably null	Het
Nod2	G	T	8: 89,397,101 (GRCm39)	C837F	probably benign	Het
Nos2	T	A	11: 78,839,984 (GRCm39)	W698R	probably damaging	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Oas1a	A	T	5: 121,040,028 (GRCm39)	S188T	possibly damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Opa1	T	C	16: 29,430,255 (GRCm39)	M394T		Het
Or1e1d-ps1	T	A	11: 73,819,375 (GRCm39)	D108E	possibly damaging	Het
Or5an6	A	T	19: 12,371,983 (GRCm39)	M119L	probably damaging	Het
Or5p66	A	G	7: 107,885,487 (GRCm39)	M282T	probably benign	Het
Or7g21	T	A	9: 19,032,760 (GRCm39)	S167T	probably benign	Het
Or7g29	A	G	9: 19,286,677 (GRCm39)	S167P	possibly damaging	Het
Oxct2a	T	A	4: 123,217,129 (GRCm39)	D84V	probably damaging	Het
Oxct2b	A	C	4: 123,011,019 (GRCm39)	D313A	probably damaging	Het
Phldb3	G	A	7: 24,328,372 (GRCm39)	V639M	probably damaging	Het
Plppr4	T	A	3: 117,115,610 (GRCm39)	N749I	probably benign	Het
Pmp22	G	T	11: 63,024,065 (GRCm39)	V25F	probably benign	Het
Pofut2	A	T	10: 77,101,763 (GRCm39)	M267L	probably benign	Het
Ppp1r42	T	A	1: 10,039,067 (GRCm39)	N351I	possibly damaging	Het
Prl2b1	T	C	13: 27,572,479 (GRCm39)	E37G	probably benign	Het
Ptpro	G	T	6: 137,391,318 (GRCm39)	V813F	probably benign	Het
Rnaseh2c	T	C	19: 5,652,343 (GRCm39)	F99L	probably benign	Het
Scn9a	T	A	2: 66,363,708 (GRCm39)	I857F	probably damaging	Het
Slf1	A	G	13: 77,197,204 (GRCm39)		probably null	Het
Smyd2	T	C	1: 189,612,983 (GRCm39)	*434W	probably null	Het
Spata31h1	T	A	10: 82,125,453 (GRCm39)	N2519I	possibly damaging	Het
Stk40	A	G	4: 126,030,650 (GRCm39)	D290G	probably damaging	Het
Tdo2	C	A	3: 81,879,001 (GRCm39)	W82C	probably damaging	Het
Tmem101	A	G	11: 102,044,194 (GRCm39)	V231A	probably damaging	Het
Tns2	G	A	15: 102,015,577 (GRCm39)	E160K	probably damaging	Het
Trim31	A	T	17: 37,212,551 (GRCm39)	D174V	probably benign	Het
Unc13d	A	T	11: 115,961,144 (GRCm39)	Y404*	probably null	Het
Ush2a	C	A	1: 188,092,063 (GRCm39)	Y531*	probably null	Het
Vapa	G	A	17: 65,889,736 (GRCm39)	P144S	probably benign	Het
Vmn1r212	C	T	13: 23,067,443 (GRCm39)	V297M	possibly damaging	Het
Vmn2r80	A	C	10: 79,030,712 (GRCm39)	N846T	probably damaging	Het
Zfp811	A	G	17: 33,017,740 (GRCm39)	V100A	probably benign	Het
Zfp958	T	A	8: 4,678,298 (GRCm39)	C108S	probably damaging	Het
Zic5	G	A	14: 122,697,100 (GRCm39)	T505I	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- TAGTTTGCAAAGAAAGTACTGCACC -3'
(R):5'- GCTCCTCTAAGATCTGCTGC -3'

Sequencing Primer
(F):5'- TTGCAAAGAAAGTACTGCACCTCTTC -3'
(R):5'- TCCTCTAAGATCTGCTGCAGGAAG -3'

Posted On

2022-09-12