Mutagenetix > Incidental Mutation

Incidental Mutation 'R9237:Vmn1r43'

700533

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r43

Ensembl Gene

ENSMUSG00000068231

Gene Name

vomeronasal 1 receptor 43

Synonyms

V1ra5

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R9237 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89858934-89876413 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 89869895 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 203 (T203M)

Ref Sequence

ENSEMBL: ENSMUSP00000086839 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089418] [ENSMUST00000226741] [ENSMUST00000226983] [ENSMUST00000227279] [ENSMUST00000228709]

AlphaFold

Q8VIC9

Predicted Effect

probably damaging
Transcript: ENSMUST00000089418
AA Change: T203M

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

SMART Domains

Protein: ENSMUSP00000086839
Gene: ENSMUSG00000068231
AA Change: T203M

Domain	Start	End	E-Value	Type
Pfam:V1R	54	318	2.9e-126	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000226741
AA Change: T203M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000226983
AA Change: T203M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000227279

Predicted Effect

probably damaging
Transcript: ENSMUST00000228709
AA Change: T203M

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930539E08Rik	T	C	17: 28,904,548	E392G	probably benign	Het
A430089I19Rik	G	T	5: 94,303,142	P375H	probably damaging	Het
Abca12	A	T	1: 71,279,398	N1815K	probably damaging	Het
Acat1	C	A	9: 53,583,516	A359S	probably damaging	Het
Actn1	T	C	12: 80,193,696	N206D	possibly damaging	Het
Adgrf4	T	A	17: 42,669,891	H101L	probably benign	Het
Ager	T	A	17: 34,597,895	M1K	probably null	Het
Akap12	T	C	10: 4,357,231	I1452T	probably benign	Het
Arap3	G	A	18: 37,979,881	A1092V	possibly damaging	Het
C8b	A	G	4: 104,793,284	T430A	probably benign	Het
Dars2	G	A	1: 161,045,455	R455W	probably damaging	Het
Erbb4	T	G	1: 68,042,442	Q1144H	possibly damaging	Het
Exoc2	G	A	13: 30,864,875	H732Y	probably benign	Het
Fhad1	T	A	4: 141,905,172	M1219L	probably benign	Het
Fktn	G	A	4: 53,734,854	G125D	probably benign	Het
Gna15	T	C	10: 81,523,849	K36E	possibly damaging	Het
Gpr156	C	T	16: 38,005,286	Q622*	probably null	Het
Grip1	C	T	10: 120,075,405	S1091L	probably benign	Het
Helt	A	G	8: 46,292,499	F154L	probably benign	Het
Hist1h4k	A	G	13: 21,750,364	S48P	probably damaging	Het
Ide	T	C	19: 37,330,499	N38S		Het
Ighg2b	A	T	12: 113,306,597	V267E		Het
Map3k10	C	T	7: 27,658,417	W645*	probably null	Het
Mcrip1	G	A	11: 120,544,716	P31L	probably damaging	Het
Mttp	T	C	3: 138,104,683	E657G	probably benign	Het
Myom1	C	T	17: 71,101,056	T1195I	probably damaging	Het
Myom2	T	C	8: 15,102,591	V646A	possibly damaging	Het
Nlrc3	A	T	16: 3,965,209	M128K	probably benign	Het
Nr2f6	A	C	8: 71,378,429	C112W	probably damaging	Het
Olfr1026	T	A	2: 85,923,923	Y218*	probably null	Het
Olfr312	A	T	11: 58,831,231	I26F	possibly damaging	Het
P2rx3	T	C	2: 85,023,552	N139S	probably benign	Het
Pcdha11	T	A	18: 37,012,207	N450K	probably damaging	Het
Phb	T	C	11: 95,675,208	I106T	possibly damaging	Het
Phyhipl	C	A	10: 70,570,890	R78L	possibly damaging	Het
Pmfbp1	A	G	8: 109,520,300	D268G	probably damaging	Het
Rcbtb2	C	A	14: 73,174,496	H408Q	probably damaging	Het
Sptbn1	A	T	11: 30,146,803	V271E	probably damaging	Het
Sptlc3	T	A	2: 139,566,685	V240E	probably benign	Het
Stat4	A	G	1: 52,106,914	N742S	probably benign	Het
Tas2r118	T	A	6: 23,969,618	Y148F	probably benign	Het
Trmt5	G	T	12: 73,284,794	Q163K	probably benign	Het
Ube2d1	T	A	10: 71,262,095	I37F	probably damaging	Het
Vps13b	C	T	15: 35,841,333	P2503L	probably damaging	Het

Other mutations in Vmn1r43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01748:Vmn1r43	APN	6	89870312	missense	probably damaging	1.00
IGL02476:Vmn1r43	APN	6	89870061	missense	possibly damaging	0.95
IGL02958:Vmn1r43	APN	6	89870049	missense	probably benign	0.09
R0413:Vmn1r43	UTSW	6	89869848	missense	probably damaging	1.00
R1662:Vmn1r43	UTSW	6	89869590	missense	possibly damaging	0.76
R1668:Vmn1r43	UTSW	6	89869701	missense	probably benign	0.01
R4419:Vmn1r43	UTSW	6	89869647	missense	probably benign	0.01
R4719:Vmn1r43	UTSW	6	89869855	missense	probably benign	0.02
R4798:Vmn1r43	UTSW	6	89869910	missense	probably benign	0.01
R5520:Vmn1r43	UTSW	6	89869746	missense	probably damaging	0.98
R5643:Vmn1r43	UTSW	6	89870372	missense	probably damaging	1.00
R5644:Vmn1r43	UTSW	6	89870372	missense	probably damaging	1.00
R5717:Vmn1r43	UTSW	6	89869923	missense	probably damaging	1.00
R6647:Vmn1r43	UTSW	6	89869859	missense	probably damaging	1.00
R6914:Vmn1r43	UTSW	6	89870337	missense	probably benign	0.02
R6942:Vmn1r43	UTSW	6	89870337	missense	probably benign	0.02
R7092:Vmn1r43	UTSW	6	89869903	missense	probably benign	0.02
R7402:Vmn1r43	UTSW	6	89869821	missense	probably benign	0.02
R7457:Vmn1r43	UTSW	6	89870190	missense	probably damaging	0.98
R7572:Vmn1r43	UTSW	6	89869565	missense	possibly damaging	0.93
R7807:Vmn1r43	UTSW	6	89870237	missense	probably benign	0.07
R8406:Vmn1r43	UTSW	6	89870432	missense	possibly damaging	0.55
R8696:Vmn1r43	UTSW	6	89870339	missense	probably damaging	0.99
R8859:Vmn1r43	UTSW	6	89869955	missense	probably damaging	1.00
R8894:Vmn1r43	UTSW	6	89869764	missense	probably benign	0.02
R9072:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9073:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9075:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9076:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9239:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9240:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9293:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9383:Vmn1r43	UTSW	6	89869570	missense	possibly damaging	0.94
R9398:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9399:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9401:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9402:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9594:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9595:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9596:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9624:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9628:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9656:Vmn1r43	UTSW	6	89870458	missense	possibly damaging	0.47
X0020:Vmn1r43	UTSW	6	89870334	missense	probably benign	0.00
Z1177:Vmn1r43	UTSW	6	89870485	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGTCATGAGCATCAGGATGG -3'
(R):5'- CCATCATTCTTAGTCCCAGAAGC -3'

Sequencing Primer
(F):5'- CATCAGGATGGTCTGGGTAGCAC -3'
(R):5'- GTCCCAGAAGCTCCTGTTTATCAAAG -3'

Posted On

2022-02-07