Mutagenetix > Incidental Mutation

Incidental Mutation 'R2306:Vmn1r196'

244601

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r196

Ensembl Gene

ENSMUSG00000069295

Gene Name

vomeronasal 1 receptor 196

Synonyms

MMRRC Submission

040305-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R2306 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22289920-22298360 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22293303 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 37 (F37L)

Ref Sequence

ENSEMBL: ENSMUSP00000154145 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091735] [ENSMUST00000226245] [ENSMUST00000227516] [ENSMUST00000228382] [ENSMUST00000228557]

AlphaFold

Q5SVD5

Predicted Effect

probably benign
Transcript: ENSMUST00000091735
AA Change: F37L

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000089329
Gene: ENSMUSG00000069295
AA Change: F37L

Domain	Start	End	E-Value	Type
Pfam:V1R	35	297	3.9e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226245

Predicted Effect

probably benign
Transcript: ENSMUST00000227516

Predicted Effect

probably benign
Transcript: ENSMUST00000228382
AA Change: F37L

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000228557
AA Change: F37L

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 97.2%
20x: 94.4%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf2	G	A	17: 42,713,119	H154Y	possibly damaging	Het
Arhgef7	T	A	8: 11,812,680	Y501*	probably null	Het
Atmin	T	C	8: 116,957,650	F683S	probably benign	Het
Bcat1	A	G	6: 145,007,653	V403A	probably damaging	Het
C4b	T	G	17: 34,728,518	M1729L	probably benign	Het
Cdh23	A	G	10: 60,323,445	S2185P	probably damaging	Het
Crispld2	T	G	8: 120,026,071	V286G	probably damaging	Het
Ctsw	T	C	19: 5,466,982		probably null	Het
Dnaic1	T	C	4: 41,625,239	V401A	probably benign	Het
Gm10801	G	C	2: 98,664,007	R143T	possibly damaging	Het
Ifitm2	T	A	7: 140,955,789	T43S	probably damaging	Het
Mark1	A	T	1: 184,900,861		probably benign	Het
Mme	A	G	3: 63,300,252	I40V	probably benign	Het
Mroh2a	A	G	1: 88,258,664	S64G	probably benign	Het
Nfatc2	A	C	2: 168,590,103	F30C	probably damaging	Het
Npr2	T	A	4: 43,633,609	V251D	probably damaging	Het
Pax8	T	A	2: 24,443,045	Y96F	probably damaging	Het
Ppp1r13b	T	C	12: 111,844,893	E187G	probably damaging	Het
Rbp3	A	T	14: 33,962,563	D1183V	probably damaging	Het
Reln	T	G	5: 21,896,786	D3382A	probably damaging	Het
Rfc3	A	G	5: 151,643,778	L271P	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sdk1	C	T	5: 141,962,700	A600V	probably benign	Het
Sfr1	T	C	19: 47,734,852	I265T	probably damaging	Het
Syt13	G	A	2: 92,940,967	R133H	probably benign	Het
Tmem231	A	T	8: 111,918,871	V132D	probably damaging	Het
Tmem247	C	A	17: 86,918,441	A103E	probably benign	Het
Unc119b	A	T	5: 115,125,475	Y223*	probably null	Het
Vps13c	T	A	9: 67,987,993	Y3627N	probably damaging	Het
Zfp292	C	A	4: 34,809,468	S1192I	probably damaging	Het

Other mutations in Vmn1r196

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01941:Vmn1r196	APN	13	22293699	nonsense	probably null
R0415:Vmn1r196	UTSW	13	22293836	missense	probably damaging	1.00
R0502:Vmn1r196	UTSW	13	22293387	missense	probably benign	0.01
R0503:Vmn1r196	UTSW	13	22293387	missense	probably benign	0.01
R4463:Vmn1r196	UTSW	13	22293683	missense	probably benign
R6335:Vmn1r196	UTSW	13	22293717	missense	probably benign	0.18
R7664:Vmn1r196	UTSW	13	22293762	missense	probably damaging	1.00
R8062:Vmn1r196	UTSW	13	22293270	missense	probably damaging	1.00
R9017:Vmn1r196	UTSW	13	22294084	missense	probably benign	0.00
R9434:Vmn1r196	UTSW	13	22293620	nonsense	probably null
R9583:Vmn1r196	UTSW	13	22293750	missense	probably damaging	0.96
S24628:Vmn1r196	UTSW	13	22293836	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTATTTCATTGCATATGTCAAGGC -3'
(R):5'- CGGGCCATCCTTTCTAGATAAAC -3'

Sequencing Primer
(F):5'- GTCAAGGCTATCTTTCATATACCAG -3'
(R):5'- TCTAGATAAACAATAACGTGACAGC -3'

Posted On

2014-10-30