Mutagenetix > Incidental Mutation

Incidental Mutation 'R3437:Vmn1r120'

267239

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r120

Ensembl Gene

ENSMUSG00000093986

Gene Name

vomeronasal 1 receptor 120

Synonyms

Gm5730

MMRRC Submission

040655-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R3437 (G1)

Quality Score

130

Status

Not validated

Chromosome

Chromosomal Location

21052867-21053784 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 21053657 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Tryptophan at position 43 (L43W)

Ref Sequence

ENSEMBL: ENSMUSP00000100837 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105202]

AlphaFold

K7N6J6

Predicted Effect

probably damaging
Transcript: ENSMUST00000105202
AA Change: L43W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100837
Gene: ENSMUSG00000093986
AA Change: L43W

Domain	Start	End	E-Value	Type
Pfam:TAS2R	8	297	2.3e-15	PFAM
Pfam:7tm_1	31	286	3.6e-6	PFAM
Pfam:V1R	41	296	6.4e-13	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.6%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	G	6: 121,639,294	L127R	probably null	Het
Ambp	T	C	4: 63,149,484	E163G	probably benign	Het
Amy1	G	A	3: 113,556,009	A504V	probably damaging	Het
Angptl3	A	T	4: 99,033,303	K219N	probably benign	Het
Atp6v1g1	A	G	4: 63,550,018	N86S	probably benign	Het
Avl9	T	C	6: 56,736,627	V290A	probably benign	Het
Bad	A	G	19: 6,942,431	R37G	probably benign	Het
Bicra	T	C	7: 15,989,298	D98G	possibly damaging	Het
Col4a4	G	A	1: 82,497,168	T650M	unknown	Het
Cyp11b2	T	C	15: 74,855,449	R128G	probably benign	Het
Dst	T	C	1: 34,190,222	S1974P	probably damaging	Het
Fabp1	T	C	6: 71,201,611	L24P	probably benign	Het
Flnb	T	C	14: 7,942,057	V2345A	probably damaging	Het
Gmnc	G	T	16: 26,960,467	H221Q	probably benign	Het
Homer1	T	C	13: 93,366,421		probably benign	Het
Kit	A	G	5: 75,645,905	D690G	probably damaging	Het
Lama2	C	T	10: 27,001,235	E2652K	probably benign	Het
Mc3r	C	T	2: 172,249,668	T270I	probably benign	Het
Mrgpra3	A	C	7: 47,589,566	L204W	probably damaging	Het
Mroh1	C	T	15: 76,433,608	T839I	possibly damaging	Het
Naip2	T	A	13: 100,154,911	H1173L	probably benign	Het
Olfr136	A	G	17: 38,335,432	I92V	probably damaging	Het
Olfr312	A	T	11: 58,831,324	M57L	probably damaging	Het
Optc	T	C	1: 133,897,879	D303G	probably damaging	Het
P4ha3	C	T	7: 100,285,624	A31V	possibly damaging	Het
Plch2	A	G	4: 154,991,013		probably null	Het
Plpp2	A	T	10: 79,527,813		probably null	Het
Polq	A	T	16: 37,062,337	N1342I	probably damaging	Het
Pter	T	A	2: 13,000,994	L326H	probably benign	Het
Pwwp2a	C	T	11: 43,706,188	Q452*	probably null	Het
Slc8a2	T	G	7: 16,158,885	V824G	probably damaging	Het
Slfn2	A	T	11: 83,069,564	H123L	probably benign	Het
Tmem132e	A	G	11: 82,444,330	Y654C	probably damaging	Het
Trim14	C	T	4: 46,523,739	V100I	possibly damaging	Het
Tro	G	A	X: 150,646,256		probably benign	Het
Uspl1	T	A	5: 149,214,697		probably benign	Het
Uty	A	G	Y: 1,158,336	I522T	probably benign	Het
Vmn2r16	A	T	5: 109,330,496	D39V	probably damaging	Het
Washc4	T	A	10: 83,570,002	I454N	probably benign	Het
Wdr66	A	G	5: 123,254,372		probably benign	Het
Wnt16	T	C	6: 22,298,134	V333A	probably damaging	Het
Ylpm1	T	C	12: 85,049,870		probably null	Het
Zfy1	A	T	Y: 726,357	D469E	possibly damaging	Het

Other mutations in Vmn1r120

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00474:Vmn1r120	APN	7	21053010	missense	probably benign	0.00
IGL02533:Vmn1r120	APN	7	21053138	missense	probably damaging	1.00
IGL03261:Vmn1r120	APN	7	21053525	missense	probably damaging	1.00
R0539:Vmn1r120	UTSW	7	21053472	missense	probably damaging	0.99
R0973:Vmn1r120	UTSW	7	21053016	missense	probably damaging	1.00
R1831:Vmn1r120	UTSW	7	21053631	missense	probably benign
R2034:Vmn1r120	UTSW	7	21052958	missense	possibly damaging	0.56
R2149:Vmn1r120	UTSW	7	21052964	missense	probably damaging	0.98
R5449:Vmn1r120	UTSW	7	21053149	missense	possibly damaging	0.53
R5548:Vmn1r120	UTSW	7	21053557	missense	probably benign	0.01
R5730:Vmn1r120	UTSW	7	21053009	missense	possibly damaging	0.80
R6305:Vmn1r120	UTSW	7	21053606	missense	possibly damaging	0.95
R7348:Vmn1r120	UTSW	7	21053452	missense	probably damaging	1.00
R8435:Vmn1r120	UTSW	7	21053632	missense	probably benign	0.44
R8486:Vmn1r120	UTSW	7	21053102	missense	probably benign
R9613:Vmn1r120	UTSW	7	21053121	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ATGATGGATACTCAGGACACAGGTG -3'
(R):5'- CAGAAACCTGAGAAGAGTAGTGTTC -3'

Sequencing Primer
(F):5'- AAGTTTGTGTTTCTTGCCACCATG -3'
(R):5'- AGTGTTCTATCTAATCATCCAGGGTC -3'

Posted On

2015-02-18