Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01915:Vmn2r20'

179902

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vmn2r20

Ensembl Gene

ENSMUSG00000094145

Gene Name

vomeronasal 2, receptor 20

Synonyms

EG667180

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.563) question?

Stock #

IGL01915

Quality Score

Status

Chromosome

Chromosomal Location

123362221-123395020 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123370924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 519 (S519P)

Ref Sequence

ENSEMBL: ENSMUSP00000129145 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172199]

AlphaFold

L7N2B1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172199
AA Change: S519P

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129145
Gene: ENSMUSG00000094145
AA Change: S519P

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:ANF_receptor	81	473	5e-33	PFAM
Pfam:NCD3G	517	570	9.6e-24	PFAM
Pfam:7tm_3	601	838	1.4e-54	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abt1	T	C	13: 23,607,938 (GRCm39)	E22G	unknown	Het
Aoc1l2	T	A	6: 48,908,582 (GRCm39)	D527E	probably damaging	Het
Atp11b	T	G	3: 35,885,612 (GRCm39)	H668Q	probably damaging	Het
Birc6	T	A	17: 74,938,715 (GRCm39)	V2687D	probably benign	Het
Cadm3	T	C	1: 173,168,675 (GRCm39)	T298A	possibly damaging	Het
Car12	G	A	9: 66,670,552 (GRCm39)	A174T	possibly damaging	Het
Ccdc180	T	C	4: 45,904,544 (GRCm39)	L380P	probably damaging	Het
Col7a1	A	T	9: 108,784,813 (GRCm39)	R214W	unknown	Het
Cyp2d26	T	G	15: 82,674,450 (GRCm39)	R477S	probably benign	Het
Dgkd	T	C	1: 87,853,780 (GRCm39)	V541A	possibly damaging	Het
Dip2b	T	A	15: 100,076,392 (GRCm39)	F797I	probably damaging	Het
Dot1l	A	T	10: 80,616,728 (GRCm39)	N63I	probably damaging	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Ints5	T	C	19: 8,874,357 (GRCm39)	I772T	probably benign	Het
Nosip	T	A	7: 44,726,283 (GRCm39)	I230N	probably damaging	Het
Or2r3	A	T	6: 42,448,223 (GRCm39)	D296E	probably benign	Het
Or4d11	A	T	19: 12,013,461 (GRCm39)	L215Q	probably damaging	Het
Or5ac22	T	A	16: 59,135,473 (GRCm39)	Q99L	probably damaging	Het
Or6c210	G	A	10: 129,496,519 (GRCm39)	M281I	probably benign	Het
Orc5	A	T	5: 22,727,381 (GRCm39)		probably benign	Het
Parp1	A	G	1: 180,425,907 (GRCm39)	I879M	probably damaging	Het
Pcdh18	A	G	3: 49,699,370 (GRCm39)	S1031P	probably benign	Het
Pdzd2	A	G	15: 12,371,725 (GRCm39)	S2557P	probably damaging	Het
Rccd1	T	C	7: 79,969,966 (GRCm39)		probably benign	Het
Rsad1	A	G	11: 94,439,803 (GRCm39)		probably null	Het
Samd9l	A	T	6: 3,373,864 (GRCm39)	C1132*	probably null	Het
Sema6d	A	G	2: 124,500,491 (GRCm39)		probably benign	Het
Slc10a5	T	C	3: 10,400,580 (GRCm39)	N27D	probably damaging	Het
Slco1a5	C	T	6: 142,189,599 (GRCm39)	M462I	probably benign	Het
Tyw5	T	C	1: 57,440,628 (GRCm39)	T45A	probably damaging	Het
Usp21	T	A	1: 171,110,307 (GRCm39)	Q489L	possibly damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het

Other mutations in Vmn2r20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02653:Vmn2r20	APN	6	123,362,324 (GRCm39)	missense	probably damaging	1.00
IGL02686:Vmn2r20	APN	6	123,362,585 (GRCm39)	missense	probably benign	0.00
R0309:Vmn2r20	UTSW	6	123,363,063 (GRCm39)	missense	probably benign	0.18
R3724:Vmn2r20	UTSW	6	123,362,706 (GRCm39)	missense	probably benign	0.00
R6502:Vmn2r20	UTSW	6	123,373,342 (GRCm39)	missense	possibly damaging	0.51
R7039:Vmn2r20	UTSW	6	123,363,082 (GRCm39)	missense	probably damaging	0.98
R7218:Vmn2r20	UTSW	6	123,363,074 (GRCm39)	missense	probably damaging	1.00
R7372:Vmn2r20	UTSW	6	123,362,468 (GRCm39)	missense	probably damaging	1.00
R7509:Vmn2r20	UTSW	6	123,362,382 (GRCm39)	missense	probably benign	0.00
R7832:Vmn2r20	UTSW	6	123,362,882 (GRCm39)	missense	probably damaging	1.00
R8011:Vmn2r20	UTSW	6	123,373,369 (GRCm39)	missense	possibly damaging	0.71
R8118:Vmn2r20	UTSW	6	123,373,429 (GRCm39)	missense	probably damaging	1.00
R8839:Vmn2r20	UTSW	6	123,373,515 (GRCm39)	missense	possibly damaging	0.95
R9275:Vmn2r20	UTSW	6	123,362,394 (GRCm39)	missense	probably damaging	1.00
R9743:Vmn2r20	UTSW	6	123,373,369 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-05-07