Mutagenetix > Incidental Mutations

Incidental Mutation 'R7717:Vmn2r2'

594963

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r2

Ensembl Gene

ENSMUSG00000043897

Gene Name

vomeronasal 2, receptor 2

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R7717 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64116432-64140543 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64134598 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 232 (V232A)

Ref Sequence

ENSEMBL: ENSMUSP00000135110 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077958] [ENSMUST00000177151]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077958
AA Change: V148A

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000077109
Gene: ENSMUSG00000043897
AA Change: V148A

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	1	416	4.5e-80	PFAM
Pfam:NCD3G	458	511	8.3e-18	PFAM
Pfam:7tm_3	542	779	1.3e-75	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177151
AA Change: V232A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135110
Gene: ENSMUSG00000043897
AA Change: V232A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ANF_receptor	83	500	1.6e-84	PFAM
Pfam:NCD3G	542	595	2.6e-17	PFAM
Pfam:7tm_3	628	862	1.9e-47	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,606,757	C408G	probably benign	Het
Adgrf5	T	C	17: 43,450,753	L1113P	probably damaging	Het
Aldh3b3	T	C	19: 3,963,970	L57P	probably damaging	Het
Asb15	A	G	6: 24,559,252	D132G	probably benign	Het
Cep290	C	T	10: 100,492,681	R111W	probably benign	Het
Cfap44	A	G	16: 44,429,935	D792G	probably damaging	Het
Col20a1	C	T	2: 181,007,615	R1029W	probably damaging	Het
Csf3r	A	G	4: 126,037,610	Y462C	probably damaging	Het
Cthrc1	T	C	15: 39,077,116	V38A	probably benign	Het
Cxcr2	T	C	1: 74,158,839	V164A	probably benign	Het
D230025D16Rik	C	A	8: 105,251,604	Q397K	probably benign	Het
Efr3b	A	G	12: 3,984,574	S199P	probably damaging	Het
Elavl4	A	G	4: 110,206,466	C342R	probably damaging	Het
Gemin5	A	T	11: 58,151,530		probably null	Het
Gm14190	A	T	11: 99,690,650	C31S	unknown	Het
Golt1b	T	A	6: 142,394,043	V78D	probably damaging	Het
Gsdmc3	T	A	15: 63,869,212	D29V	probably damaging	Het
Itih1	T	A	14: 30,931,185	D766V	probably damaging	Het
Larp1b	C	T	3: 40,972,444	S251F	probably damaging	Het
Lrp8	A	G	4: 107,834,743	T115A	probably benign	Het
Lrrc37a	A	G	11: 103,504,300	S100P	probably benign	Het
Lss	T	C	10: 76,545,452	V424A	possibly damaging	Het
Ltbp1	T	C	17: 75,290,078	V568A	possibly damaging	Het
Myo10	A	T	15: 25,731,970	T311S	probably benign	Het
Nsd3	T	C	8: 25,682,562	V779A	probably benign	Het
Olfr1335	A	T	4: 118,808,933	S310R	probably damaging	Het
Olfr138	C	A	17: 38,275,580	Q270K	probably damaging	Het
Olfr1444	A	T	19: 12,861,795	I7F	probably benign	Het
Olfr624	T	C	7: 103,670,945	T29A	probably benign	Het
Olfr698	A	G	7: 106,752,636	W251R	possibly damaging	Het
Olfr748	T	A	14: 50,710,762	L144Q	probably damaging	Het
Pak1	T	A	7: 97,886,348	D215E	probably benign	Het
Pde7b	A	G	10: 20,407,191	F355L	probably benign	Het
Pi4ka	A	G	16: 17,376,923	S204P		Het
Pirb	T	C	7: 3,717,783	K239E	not run	Het
Pirb	C	T	7: 3,717,801	G233R	not run	Het
Pnp	G	A	14: 50,951,003	M211I	probably benign	Het
Pot1a	A	T	6: 25,758,823	L319Q	probably benign	Het
Rspry1	G	T	8: 94,623,122	C46F	probably damaging	Het
Sec11c	C	T	18: 65,812,712	T82M	possibly damaging	Het
Secisbp2	T	C	13: 51,673,098	V414A	probably benign	Het
Tenm2	A	G	11: 36,864,935	F79L	probably damaging	Het
Zbtb17	T	C	4: 141,466,083	S593P	probably damaging	Het
Zfp143	T	G	7: 110,086,220	C419G	possibly damaging	Het
Zfp804b	T	C	5: 6,771,293	N590S	possibly damaging	Het

Other mutations in Vmn2r2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Vmn2r2	APN	3	64133898	splice site	probably benign
IGL00980:Vmn2r2	APN	3	64117180	missense	probably benign	0.11
IGL01389:Vmn2r2	APN	3	64117009	missense	probably damaging	0.97
IGL01804:Vmn2r2	APN	3	64134256	missense	possibly damaging	0.91
IGL02750:Vmn2r2	APN	3	64117402	missense	probably damaging	1.00
IGL02829:Vmn2r2	APN	3	64118751	splice site	probably benign
IGL03036:Vmn2r2	APN	3	64116900	missense	probably benign	0.01
IGL03174:Vmn2r2	APN	3	64117123	nonsense	probably null
PIT4151001:Vmn2r2	UTSW	3	64116913	missense	possibly damaging	0.67
R0029:Vmn2r2	UTSW	3	64116944	missense	probably benign	0.00
R0310:Vmn2r2	UTSW	3	64134618	missense	probably damaging	1.00
R0357:Vmn2r2	UTSW	3	64133899	splice site	probably null
R0637:Vmn2r2	UTSW	3	64126578	missense	probably benign	0.00
R1626:Vmn2r2	UTSW	3	64134500	missense	possibly damaging	0.61
R1662:Vmn2r2	UTSW	3	64117130	missense	probably benign	0.00
R1710:Vmn2r2	UTSW	3	64117399	missense	probably benign	0.19
R1797:Vmn2r2	UTSW	3	64134707	missense	probably benign	0.00
R1862:Vmn2r2	UTSW	3	64134521	missense	possibly damaging	0.79
R1971:Vmn2r2	UTSW	3	64126700	missense	probably damaging	1.00
R2051:Vmn2r2	UTSW	3	64117345	missense	possibly damaging	0.77
R2099:Vmn2r2	UTSW	3	64117053	missense	probably damaging	1.00
R2275:Vmn2r2	UTSW	3	64116509	missense	probably benign	0.00
R3078:Vmn2r2	UTSW	3	64134632	missense	probably benign	0.22
R3418:Vmn2r2	UTSW	3	64116899	missense	probably benign	0.00
R3419:Vmn2r2	UTSW	3	64116899	missense	probably benign	0.00
R3959:Vmn2r2	UTSW	3	64140526	missense	probably benign
R4230:Vmn2r2	UTSW	3	64134491	missense	probably benign	0.00
R4258:Vmn2r2	UTSW	3	64134697	missense	probably damaging	1.00
R4810:Vmn2r2	UTSW	3	64137462	missense	probably damaging	1.00
R4822:Vmn2r2	UTSW	3	64134539	missense	probably damaging	0.99
R4919:Vmn2r2	UTSW	3	64117157	missense	possibly damaging	0.56
R4925:Vmn2r2	UTSW	3	64137471	start codon destroyed	probably null	0.03
R4954:Vmn2r2	UTSW	3	64140484	missense	probably benign	0.00
R5071:Vmn2r2	UTSW	3	64116900	missense	probably benign	0.01
R5315:Vmn2r2	UTSW	3	64116956	missense	probably benign	0.37
R5450:Vmn2r2	UTSW	3	64126590	missense	probably benign
R5577:Vmn2r2	UTSW	3	64116995	missense	probably benign	0.00
R5595:Vmn2r2	UTSW	3	64126615	missense	possibly damaging	0.74
R5727:Vmn2r2	UTSW	3	64117187	missense	probably benign	0.41
R5810:Vmn2r2	UTSW	3	64117394	missense	probably damaging	1.00
R5919:Vmn2r2	UTSW	3	64137302	missense	probably benign	0.39
R6052:Vmn2r2	UTSW	3	64117361	missense	possibly damaging	0.56
R6084:Vmn2r2	UTSW	3	64117046	missense	probably benign	0.01
R6299:Vmn2r2	UTSW	3	64116653	nonsense	probably null
R6762:Vmn2r2	UTSW	3	64134449	missense	probably damaging	1.00
R6858:Vmn2r2	UTSW	3	64137494	missense	probably damaging	1.00
R6889:Vmn2r2	UTSW	3	64117267	missense	probably damaging	0.99
R6990:Vmn2r2	UTSW	3	64117187	missense	probably benign	0.02
R7195:Vmn2r2	UTSW	3	64116479	missense	probably benign	0.01
R7269:Vmn2r2	UTSW	3	64126577	missense	probably benign	0.32
R7699:Vmn2r2	UTSW	3	64117115	missense	possibly damaging	0.69
R7798:Vmn2r2	UTSW	3	64134097	missense	possibly damaging	0.60
R7914:Vmn2r2	UTSW	3	64134105	missense	probably benign	0.20
R7974:Vmn2r2	UTSW	3	64117387	missense	probably damaging	0.99
R8394:Vmn2r2	UTSW	3	64137437	missense	probably damaging	1.00
X0024:Vmn2r2	UTSW	3	64137286	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGCTTCACTGGCTATCCATG -3'
(R):5'- GGGCTATACTTCTTCCTGTGCAG -3'

Sequencing Primer
(F):5'- TGATGAATCACTTCCAGCACAAATGG -3'
(R):5'- GTGCAGTTCTTAGTGACACATTCCAG -3'

Posted On

2019-11-12