Mutagenetix > Incidental Mutation

Incidental Mutation 'R5430:Vmn1r238'

427154

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r238

Ensembl Gene

ENSMUSG00000091539

Gene Name

vomeronasal 1 receptor, 238

Synonyms

MMRRC Submission

042996-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R5430 (G1)

Quality Score

189

Status

Validated

Chromosome

Chromosomal Location

3122492-3123412 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 3122521 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 298 (L298M)

Ref Sequence

ENSEMBL: ENSMUSP00000129804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165255]

AlphaFold

E9Q373

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165255
AA Change: L298M

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129804
Gene: ENSMUSG00000091539
AA Change: L298M

Domain	Start	End	E-Value	Type
Pfam:TAS2R	7	302	5.3e-8	PFAM
Pfam:7tm_1	27	292	8.8e-7	PFAM
Pfam:V1R	34	298	1.9e-33	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

96% (54/56)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J11Rik	T	A	9: 40,052,291		noncoding transcript	Het
Acot11	C	T	4: 106,760,130	G240R	probably damaging	Het
Ankrd34a	G	A	3: 96,597,521	G14R	probably damaging	Het
Arhgef1	C	A	7: 24,912,307		probably null	Het
Brsk1	T	C	7: 4,710,436	F702L	probably benign	Het
Chrna3	C	T	9: 55,012,908	V470I	probably damaging	Het
Cpm	A	G	10: 117,676,081	Q310R	possibly damaging	Het
Dennd5a	T	C	7: 109,934,240	T108A	probably damaging	Het
Dvl3	C	T	16: 20,523,731	R145W	probably damaging	Het
E4f1	G	A	17: 24,444,970	A532V	probably damaging	Het
Eid1	A	G	2: 125,673,630	T147A	probably damaging	Het
Eipr1	A	T	12: 28,863,016	N239Y	probably damaging	Het
Eml5	T	C	12: 98,794,158	I1777M	probably damaging	Het
Gm11127	C	T	17: 36,056,075	V359I	probably benign	Het
Gm11787	A	T	4: 3,512,786		noncoding transcript	Het
Gnat2	T	C	3: 108,098,400	L227P	probably damaging	Het
Jag1	T	C	2: 137,101,706	H190R	possibly damaging	Het
Kdm7a	A	G	6: 39,149,342	W570R	possibly damaging	Het
Lmbrd1	A	G	1: 24,692,980	T93A	possibly damaging	Het
Lrch4	T	C	5: 137,638,533	S433P	possibly damaging	Het
Lrp1	G	A	10: 127,541,061	R4216W	probably damaging	Het
Magohb	A	G	6: 131,289,418	Y42H	probably damaging	Het
Melk	A	G	4: 44,309,033	H130R	probably damaging	Het
Mettl24	G	T	10: 40,737,784	R173L	probably benign	Het
Mup4	A	T	4: 59,960,044	H73Q	probably damaging	Het
Mylk2	A	T	2: 152,917,548	E386V	probably damaging	Het
Nppb	C	T	4: 147,986,381	P71L	probably benign	Het
Oca2	T	C	7: 56,295,460	V272A	probably damaging	Het
Olfr1258	A	T	2: 89,929,913	I35F	probably benign	Het
Olfr127	T	A	17: 37,904,413	I289N	probably damaging	Het
Olfr720	C	T	14: 14,175,692	R130H	probably benign	Het
Osbpl6	T	C	2: 76,586,138	S628P	probably damaging	Het
Papola	T	C	12: 105,809,584	V253A	probably damaging	Het
Pex12	T	C	11: 83,297,746	D141G	probably damaging	Het
Ppm1k	A	T	6: 57,524,886	C97*	probably null	Het
Ptprh	T	A	7: 4,551,047	E807V	probably damaging	Het
Sema3a	A	T	5: 13,565,763	T385S	probably damaging	Het
Sfn	T	C	4: 133,601,627	Y48C	probably damaging	Het
Slc38a8	A	G	8: 119,494,220	I200T	probably benign	Het
Smarcal1	T	C	1: 72,626,617	V758A	probably damaging	Het
Stmn4	A	G	14: 66,358,014	M190V	possibly damaging	Het
Syt3	T	G	7: 44,390,913	L190R	possibly damaging	Het
Tbl1xr1	T	A	3: 22,192,082	D255E	probably benign	Het
Ttbk2	C	T	2: 120,777,565	R191H	probably damaging	Het
Vmn2r45	A	C	7: 8,483,334	Y318*	probably null	Het
Vsig8	T	C	1: 172,559,629	I24T	probably damaging	Het
Wdr3	G	A	3: 100,157,327	T166I	possibly damaging	Het
Zfp354c	A	G	11: 50,815,195	I351T	probably benign	Het
Zfp52	A	G	17: 21,555,067	T8A	probably benign	Het

Other mutations in Vmn1r238

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Vmn1r238	APN	18	3123243	missense	probably benign	0.01
IGL01385:Vmn1r238	APN	18	3122770	missense	possibly damaging	0.83
IGL02716:Vmn1r238	APN	18	3123124	missense	probably damaging	1.00
R1219:Vmn1r238	UTSW	18	3123135	missense	possibly damaging	0.81
R1568:Vmn1r238	UTSW	18	3123358	missense	probably benign	0.00
R1864:Vmn1r238	UTSW	18	3123040	nonsense	probably null
R3024:Vmn1r238	UTSW	18	3123305	missense	probably benign	0.13
R4291:Vmn1r238	UTSW	18	3123214	nonsense	probably null
R4304:Vmn1r238	UTSW	18	3123040	nonsense	probably null
R4586:Vmn1r238	UTSW	18	3123294	missense	probably damaging	1.00
R4664:Vmn1r238	UTSW	18	3123300	missense	probably damaging	0.99
R5123:Vmn1r238	UTSW	18	3123243	missense	probably benign
R5834:Vmn1r238	UTSW	18	3123168	missense	probably benign
R7186:Vmn1r238	UTSW	18	3122661	missense	probably damaging	0.99
R7206:Vmn1r238	UTSW	18	3122623	missense	possibly damaging	0.94
R7308:Vmn1r238	UTSW	18	3122875	missense	probably benign	0.09
R7346:Vmn1r238	UTSW	18	3123151	missense	probably damaging	1.00
R7467:Vmn1r238	UTSW	18	3123393	missense	probably benign	0.10
R7571:Vmn1r238	UTSW	18	3122721	missense	probably damaging	1.00
R7808:Vmn1r238	UTSW	18	3123033	missense	probably benign	0.03
R8085:Vmn1r238	UTSW	18	3123151	missense	probably damaging	1.00
R8086:Vmn1r238	UTSW	18	3123250	missense	probably damaging	1.00
R8325:Vmn1r238	UTSW	18	3122529	missense	probably benign	0.00
R8423:Vmn1r238	UTSW	18	3123365	nonsense	probably null
R8747:Vmn1r238	UTSW	18	3123232	missense	possibly damaging	0.87
R8930:Vmn1r238	UTSW	18	3123127	missense	probably benign	0.03
R8932:Vmn1r238	UTSW	18	3123127	missense	probably benign	0.03
R9279:Vmn1r238	UTSW	18	3122994	missense	probably damaging	0.99
R9382:Vmn1r238	UTSW	18	3122676	missense	probably damaging	0.99
R9644:Vmn1r238	UTSW	18	3122635	missense	probably benign	0.10
R9725:Vmn1r238	UTSW	18	3122577	missense	probably benign	0.00
Z1177:Vmn1r238	UTSW	18	3122505	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTCACAAAATTTTCTACTGATCATTCC -3'
(R):5'- CTGAAAGTCTCACCTGAAGACAGAG -3'

Sequencing Primer
(F):5'- GTTTTAGCATTGTGTAACAGA -3'
(R):5'- AAACTATCCTCATCCTGCTGTG -3'

Posted On

2016-09-01