Mutagenetix > Incidental Mutation

Incidental Mutation 'R1219:Vmn1r238'

99967

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r238

Ensembl Gene

ENSMUSG00000091539

Gene Name

vomeronasal 1 receptor, 238

Synonyms

MMRRC Submission

039288-MU

Accession Numbers

Essential gene?

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

Stock #

R1219 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3122492-3123412 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3123135 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 93 (T93I)

Ref Sequence

ENSEMBL: ENSMUSP00000129804 (fasta)

Gene Model

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

AlphaFold

E9Q373

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165255
AA Change: T93I

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129804
Gene: ENSMUSG00000091539
AA Change: T93I

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: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 36,946,470	L1266*	probably null	Het
Atad2	A	G	15: 58,134,911	S22P	probably benign	Het
Atrn	A	T	2: 131,021,007	T1336S	possibly damaging	Het
Car9	G	T	4: 43,512,439		probably null	Het
Ccdc113	T	C	8: 95,538,267		probably benign	Het
Ccdc155	A	G	7: 45,189,408		probably benign	Het
Ccdc158	A	G	5: 92,654,181		probably benign	Het
Dcun1d3	G	T	7: 119,859,408	Q135K	probably damaging	Het
Dnah7b	A	C	1: 46,340,120	E3671D	probably benign	Het
Eea1	A	G	10: 96,010,761		probably benign	Het
Fam189b	T	C	3: 89,183,848	V42A	probably damaging	Het
Gdf10	G	A	14: 33,932,753	A406T	probably benign	Het
Gm5111	A	G	6: 48,590,394		probably benign	Het
Golga3	G	T	5: 110,184,349	E50*	probably null	Het
Junb	T	C	8: 84,977,639	E264G	probably damaging	Het
Kifc1	G	A	17: 33,884,711	R195C	probably benign	Het
Krt18	T	C	15: 102,031,288		probably benign	Het
Man1a	G	A	10: 53,919,153		probably benign	Het
Mapkbp1	G	T	2: 120,019,350	G768*	probably null	Het
Mybpc2	A	C	7: 44,516,034		probably null	Het
Narfl	T	C	17: 25,775,101	I41T	probably damaging	Het
Nectin3	A	T	16: 46,454,679	C238*	probably null	Het
Ntf3	G	T	6: 126,102,211	R98S	possibly damaging	Het
Nup153	T	G	13: 46,687,219	Q971P	probably benign	Het
Nup155	A	G	15: 8,117,338	T221A	possibly damaging	Het
Ppp2r1b	T	C	9: 50,867,321		probably benign	Het
Prkd1	A	T	12: 50,388,342	V534E	probably damaging	Het
Rabep2	A	G	7: 126,429,627	E26G	probably damaging	Het
Rnf213	C	A	11: 119,436,177	N1663K	probably damaging	Het
Slc1a1	G	A	19: 28,904,746		probably benign	Het
Slc36a4	T	C	9: 15,723,536	Y125H	probably damaging	Het
Slc6a11	G	A	6: 114,225,811		probably benign	Het
Stab1	C	T	14: 31,140,621		probably null	Het
Sumf2	G	T	5: 129,854,772	A164S	probably benign	Het
Sv2b	T	C	7: 75,136,412	D420G	probably benign	Het
Ube2v1	T	C	2: 167,617,911	D56G	probably benign	Het
Ung	A	G	5: 114,132,167		probably benign	Het
Vcan	T	C	13: 89,679,904	Y2181C	probably damaging	Het
Vmn2r14	A	C	5: 109,224,574	S17A	probably benign	Het
Vmn2r25	A	G	6: 123,839,323	V433A	probably benign	Het
Zfp36l2	A	G	17: 84,187,642		probably null	Het
Zfp646	G	A	7: 127,883,120	G1490S	probably benign	Het
Zfp839	A	G	12: 110,868,273	D654G	possibly damaging	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
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
R5430:Vmn1r238	UTSW	18	3122521	missense	possibly damaging	0.63
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'- ATACTTGAGCAGGCCATGAGACCC -3'
(R):5'- CGCCCAAAGTCCTGATTATAGAGCAC -3'

Sequencing Primer
(F):5'- GTTGCTACACTGTCAGAAGC -3'
(R):5'- GATTATAGAGCACTTGACTTTCGCC -3'

Posted On

2014-01-15