Mutagenetix > Incidental Mutation

Incidental Mutation 'R9151:Evc2'

695024

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

068973-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9151 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37495843-37582399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37504823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 74 (N74D)

Ref Sequence

ENSEMBL: ENSMUSP00000055130 (fasta)

Gene Model

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

AlphaFold

Q8K1G2

Predicted Effect

probably benign
Transcript: ENSMUST00000056365
AA Change: N74D

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

SMART Domains

Protein: ENSMUSP00000055130
Gene: ENSMUSG00000050248
AA Change: N74D

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (71/71)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,188,908 (GRCm39)	F850L	probably benign	Het
Adam1a	A	T	5: 121,657,411 (GRCm39)	D627E	probably damaging	Het
Add2	C	A	6: 86,081,459 (GRCm39)		probably benign	Het
Anpep	T	C	7: 79,491,785 (GRCm39)	N72S	probably benign	Het
Aqp6	A	G	15: 99,501,655 (GRCm39)	T238A	possibly damaging	Het
Arhgef38	G	T	3: 132,912,706 (GRCm39)	T111K		Het
Atg10	A	G	13: 91,189,032 (GRCm39)	Y93H	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cald1	A	G	6: 34,732,682 (GRCm39)	N286S	unknown	Het
Caps2	A	T	10: 112,031,829 (GRCm39)	I322F	possibly damaging	Het
Cbx3	T	A	6: 51,455,533 (GRCm39)	S95T	probably benign	Het
Ccdc24	T	C	4: 117,727,102 (GRCm39)	T83A	unknown	Het
Cntn1	T	C	15: 92,140,864 (GRCm39)	Y197H	probably damaging	Het
Cpd	A	G	11: 76,675,275 (GRCm39)	I1282T	possibly damaging	Het
Crat	A	T	2: 30,295,052 (GRCm39)	S454R	probably damaging	Het
D2hgdh	G	A	1: 93,754,338 (GRCm39)	V126I	probably benign	Het
Dcst1	A	G	3: 89,271,558 (GRCm39)	V75A	probably benign	Het
Dnm1l	T	C	16: 16,176,668 (GRCm39)	D21G	probably benign	Het
Gm19965	A	T	1: 116,748,942 (GRCm39)	M208L		Het
Gprc6a	T	G	10: 51,497,182 (GRCm39)	T454P	possibly damaging	Het
Gprin1	C	T	13: 54,886,778 (GRCm39)	V499M	probably benign	Het
Gtf3c5	A	G	2: 28,463,577 (GRCm39)	Y194H	probably damaging	Het
Hcn4	T	C	9: 58,767,880 (GRCm39)	V1147A	possibly damaging	Het
Ighv1-82	A	C	12: 115,916,342 (GRCm39)	V56G	probably damaging	Het
Ins2	T	C	7: 142,232,505 (GRCm39)	D93G	possibly damaging	Het
Itgb8	A	G	12: 119,130,535 (GRCm39)	S658P	probably benign	Het
Kcnmb1	T	C	11: 33,920,263 (GRCm39)	F159L	probably benign	Het
Klf1	C	T	8: 85,629,954 (GRCm39)	L260F	probably benign	Het
Larp4	T	A	15: 99,888,205 (GRCm39)	S140T	possibly damaging	Het
Maneal	C	A	4: 124,755,542 (GRCm39)	R140L	probably benign	Het
Mfsd11	T	A	11: 116,750,323 (GRCm39)	V114D		Het
Muc4	A	G	16: 32,752,617 (GRCm38)	T832A	probably benign	Het
Myh11	T	G	16: 14,050,439 (GRCm39)	I509L		Het
Myh13	A	T	11: 67,252,149 (GRCm39)	E1419V	probably damaging	Het
Myh7b	A	G	2: 155,474,439 (GRCm39)	E1718G	probably damaging	Het
Myo9b	T	A	8: 71,807,871 (GRCm39)		probably benign	Het
Notch1	A	T	2: 26,367,939 (GRCm39)	L656Q	probably benign	Het
Nova1	A	G	12: 46,746,813 (GRCm39)	I488T	probably damaging	Het
Or51r1	A	T	7: 102,228,500 (GRCm39)	E266V	probably damaging	Het
Or5b113	A	T	19: 13,342,222 (GRCm39)	T77S	possibly damaging	Het
Or5b21	A	G	19: 12,839,976 (GRCm39)	Y279C	probably damaging	Het
Or5d18	A	G	2: 87,864,697 (GRCm39)	V262A	probably damaging	Het
Or6c35	A	G	10: 129,169,623 (GRCm39)	N291S	probably damaging	Het
Or6d13	A	T	6: 116,517,990 (GRCm39)	N192I	possibly damaging	Het
Pax6	C	T	2: 105,523,097 (GRCm39)	S325L	probably benign	Het
Phldb1	T	C	9: 44,619,740 (GRCm39)	D142G	probably null	Het
Phldb3	T	G	7: 24,324,048 (GRCm39)		probably benign	Het
Pikfyve	G	T	1: 65,235,898 (GRCm39)	R190L	probably damaging	Het
Plagl2	A	T	2: 153,074,540 (GRCm39)	H120Q	probably damaging	Het
Pou2f1	A	T	1: 165,703,640 (GRCm39)		probably benign	Het
Pramel58	A	G	5: 94,831,836 (GRCm39)	Y281C	possibly damaging	Het
Prpf6	A	G	2: 181,250,001 (GRCm39)	R54G	possibly damaging	Het
Prss33	T	C	17: 24,052,966 (GRCm39)	E236G	probably benign	Het
Ptpru	T	C	4: 131,522,278 (GRCm39)	Y709C	probably benign	Het
Rcc1l	A	G	5: 134,197,057 (GRCm39)	V212A	probably benign	Het
Rtl1	G	A	12: 109,560,007 (GRCm39)	L611F		Het
Scp2	A	G	4: 107,931,603 (GRCm39)	I344T	possibly damaging	Het
Serpinb2	A	T	1: 107,449,890 (GRCm39)	D101V	possibly damaging	Het
Slc13a1	T	C	6: 24,097,662 (GRCm39)	T422A	probably damaging	Het
Slc38a10	G	T	11: 120,007,762 (GRCm39)	T406K	probably benign	Het
Smad4	T	C	18: 73,782,806 (GRCm39)	E376G	probably damaging	Het
Smarcb1	T	C	10: 75,750,916 (GRCm39)	E115G	probably benign	Het
Spata31h1	A	T	10: 82,120,928 (GRCm39)	H4027Q	probably damaging	Het
Taf5	G	A	19: 47,063,370 (GRCm39)	V307I	probably damaging	Het
Tnc	T	C	4: 63,938,686 (GRCm39)	N51S	possibly damaging	Het
Trp53inp2	G	T	2: 155,228,558 (GRCm39)	R171L	possibly damaging	Het
Ttc13	A	T	8: 125,402,021 (GRCm39)	D579E	probably benign	Het
Ttn	A	T	2: 76,775,896 (GRCm39)	N1761K	unknown	Het
Ttpa	C	T	4: 20,008,401 (GRCm39)		probably benign	Het
Ugt3a1	G	A	15: 9,362,051 (GRCm39)	V276I	probably benign	Het
Usp4	T	A	9: 108,244,011 (GRCm39)	H296Q	probably benign	Het
Vmn1r119	T	A	7: 20,745,593 (GRCm39)	H263L	possibly damaging	Het
Vmn2r81	A	G	10: 79,103,905 (GRCm39)	D176G		Het
Wdr1	A	T	5: 38,687,468 (GRCm39)		probably benign	Het
Zfp488	T	G	14: 33,692,695 (GRCm39)	Q156P	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
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
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'- GTTCCTGAAAACTGTGATCAGCAG -3'
(R):5'- ATCCCTGCTCTGACCAGTAG -3'

Sequencing Primer
(F):5'- GCAGAAATAATCCCTGTGGTGTCC -3'
(R):5'- GCTCTGACCAGTAGATTTTTACTAAC -3'

Posted On

2022-01-20