Mutagenetix > Incidental Mutation

Incidental Mutation 'R9383:Vmn1r43'

710148

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 #

R9383 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89858934-89876413 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89869570 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 311 (H311Q)

Ref Sequence

ENSEMBL: ENSMUSP00000086839 (fasta)

Gene Model

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

AlphaFold

Q8VIC9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089418
AA Change: H311Q

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000086839
Gene: ENSMUSG00000068231
AA Change: H311Q

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226741
AA Change: H311Q

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226983
AA Change: H311Q

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000227279

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228709
AA Change: H311Q

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg5	A	G	8: 94,934,534	E124G		Het
Atp1a2	T	C	1: 172,279,767	I729V	probably benign	Het
Chd2	T	A	7: 73,449,170	E1467V	probably null	Het
Col6a5	T	C	9: 105,925,911	D1285G	unknown	Het
Coro7	A	G	16: 4,635,024	C287R	probably damaging	Het
Cpa3	T	C	3: 20,228,881	E134G	probably benign	Het
Csf3r	C	T	4: 126,043,446	P708S	possibly damaging	Het
Ctgf	T	G	10: 24,595,985	V58G	possibly damaging	Het
Defb30	T	C	14: 63,036,014	E49G	probably benign	Het
Dnah3	A	T	7: 120,047,596	I1070K	probably benign	Het
Dnm2	G	A	9: 21,472,624	V234M	probably damaging	Het
Drg2	T	A	11: 60,459,461	M82K	probably benign	Het
Dus2	G	A	8: 106,050,318	E312K	probably benign	Het
Efcab6	T	C	15: 83,872,419	E1240G	possibly damaging	Het
Ep400	T	C	5: 110,685,485	E1957G	unknown	Het
Gpnmb	A	G	6: 49,051,984	S479G	probably damaging	Het
Gpr153	T	C	4: 152,283,059	S456P	probably benign	Het
Gprc5b	A	T	7: 118,976,538	M388K	probably damaging	Het
H2-T23	T	C	17: 36,032,335	D50G	possibly damaging	Het
Hipk1	T	C	3: 103,777,567	E244G	probably damaging	Het
Malrd1	T	A	2: 15,695,201	C620S	unknown	Het
Maz	G	A	7: 127,024,911	Q358*	probably null	Het
Mcc	A	T	18: 44,442,918	I901N	probably benign	Het
Megf11	T	G	9: 64,638,450	C172G	probably damaging	Het
Mipol1	A	G	12: 57,306,034	Y53C	probably benign	Het
Nectin4	C	T	1: 171,385,683	T391I	probably damaging	Het
Nell2	A	T	15: 95,385,076	Y362N	possibly damaging	Het
Nphp4	T	C	4: 152,544,461		probably null	Het
Nsun4	A	G	4: 116,034,276	V302A	probably benign	Het
Odf2	T	A	2: 29,901,237	L181H	probably damaging	Het
Olfr1076	T	C	2: 86,508,510	I17T	probably damaging	Het
Opn1sw	A	G	6: 29,378,001	S328P	possibly damaging	Het
Pga5	C	T	19: 10,669,533	G303S	probably damaging	Het
Pik3c2g	T	A	6: 139,882,016	Y712*	probably null	Het
Pkd1	C	T	17: 24,575,926	R2196C	probably damaging	Het
Pkd1l3	TATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCA	TATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCA	8: 109,623,969		probably benign	Het
Plekhm2	A	T	4: 141,632,301	M385K	probably damaging	Het
Pole	T	C	5: 110,291,026	V164A	possibly damaging	Het
Prr19	T	A	7: 25,302,910	F11Y	probably damaging	Het
Prtg	G	T	9: 72,849,861	L355F	probably benign	Het
Raph1	C	A	1: 60,525,670	M219I	unknown	Het
Rtkn2	A	G	10: 68,003,264	D140G	possibly damaging	Het
Serpina5	T	C	12: 104,103,872	S343P	probably damaging	Het
Slc1a1	A	G	19: 28,911,725	K466R	probably benign	Het
Slc43a1	G	A	2: 84,860,162	V518M	probably damaging	Het
Slc47a2	A	G	11: 61,336,923	L125P	probably damaging	Het
Slc4a7	C	A	14: 14,766,803	C585*	probably null	Het
Snx19	A	G	9: 30,435,900	E713G	probably damaging	Het
Tiam1	C	T	16: 89,858,673	V715M	probably damaging	Het
Tln2	T	A	9: 67,370,761	M322L	probably benign	Het
Top2a	G	A	11: 99,011,058	R449*	probably null	Het
Trpv4	C	A	5: 114,658,413		probably benign	Het
Vmn1r214	A	C	13: 23,034,925	R196S	probably benign	Het
Vmn1r54	A	G	6: 90,270,027	T308A	probably benign	Het
Zfand3	T	A	17: 30,135,505	Y99N	probably benign	Het
Zfp119b	T	C	17: 55,939,355	Y277C	probably damaging	Het
Zfp345	G	A	2: 150,472,583	H345Y	possibly damaging	Het
Zyg11a	T	C	4: 108,189,729	E516G	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
R9237: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
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'- GCCCTTGTCATATCTCAAAGTG -3'
(R):5'- GACCATCCTGATGCTCATGAC -3'

Sequencing Primer
(F):5'- TCTTCTGTTACATGTTTACTCTCATG -3'
(R):5'- ATGACCTTCTTTGTGCTGATGAC -3'

Posted On

2022-04-18