Mutagenetix > Incidental Mutations

Incidental Mutation 'R0389:Vmn1r71'

31479

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r71

Ensembl Gene

ENSMUSG00000059206

Gene Name

vomeronasal 1 receptor 71

Synonyms

V1re13

MMRRC Submission

038595-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R0389 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10744543-10754364 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 10748311 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 84 (T84I)

Ref Sequence

ENSEMBL: ENSMUSP00000153870 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079113] [ENSMUST00000226874] [ENSMUST00000227003] [ENSMUST00000227702] [ENSMUST00000227940] [ENSMUST00000228098] [ENSMUST00000228248] [ENSMUST00000228374] [ENSMUST00000228526] [ENSMUST00000228561]

Predicted Effect

probably benign
Transcript: ENSMUST00000079113
AA Change: T150I

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000078116
Gene: ENSMUSG00000059206
AA Change: T150I

Domain	Start	End	E-Value	Type
Pfam:TAS2R	3	304	2e-8	PFAM
Pfam:7tm_1	22	289	3.1e-6	PFAM
Pfam:V1R	34	297	4.8e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210233

Predicted Effect

probably benign
Transcript: ENSMUST00000226874
AA Change: T150I

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000227003
AA Change: T150I

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000227702
AA Change: T150I

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000227940
AA Change: T150I

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000228098
AA Change: T150I

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000228248
AA Change: T150I

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000228374
AA Change: T150I

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000228526
AA Change: T150I

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000228561
AA Change: T84I

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.9%
20x: 91.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	G	A	3: 121,671,404	E30K	unknown	Het
Abi3bp	A	T	16: 56,671,307	T1319S	possibly damaging	Het
Adam18	T	C	8: 24,629,637		probably null	Het
Adgre1	G	A	17: 57,406,839	D175N	possibly damaging	Het
Adgrf1	T	C	17: 43,303,788		probably null	Het
Ankhd1	A	G	18: 36,644,599	S1612G	possibly damaging	Het
Anks1	A	G	17: 27,995,952	R458G	possibly damaging	Het
C130026I21Rik	T	A	1: 85,270,052	N5Y	probably benign	Het
Cacna1g	C	T	11: 94,459,697	V441M	probably damaging	Het
Cadps2	A	T	6: 23,321,782	V1037E	possibly damaging	Het
Casz1	T	C	4: 148,948,911	V1380A	possibly damaging	Het
Cenpq	T	C	17: 40,933,194		probably benign	Het
Chrac1	T	C	15: 73,093,527	I93T	possibly damaging	Het
Cntnap2	T	A	6: 46,009,637	S359T	probably benign	Het
Col6a6	C	A	9: 105,784,204	M235I	probably benign	Het
Crat	T	C	2: 30,403,628		probably benign	Het
Cyp1a2	T	C	9: 57,682,025	N169D	probably benign	Het
Dennd1c	T	A	17: 57,067,649	T499S	probably benign	Het
Dst	A	G	1: 34,294,550		probably null	Het
Dync2h1	G	T	9: 7,167,244		probably null	Het
Eif3h	C	A	15: 51,799,264	V129F	probably damaging	Het
Eno2	A	G	6: 124,762,691	F380L	probably damaging	Het
Ergic2	T	A	6: 148,183,202	I34F	probably benign	Het
Ergic3	G	A	2: 156,016,787	V278M	probably benign	Het
Fam185a	C	T	5: 21,459,285	T339M	probably damaging	Het
Fam20b	A	T	1: 156,681,453	D396E	probably benign	Het
Fam71f2	T	A	6: 29,281,392	V43E	possibly damaging	Het
Fasn	G	T	11: 120,816,182	D881E	probably damaging	Het
Fat1	C	A	8: 44,950,348	H45Q	probably benign	Het
Fbxw16	A	T	9: 109,432,482	C439S	probably benign	Het
Gba2	A	T	4: 43,570,832	F280Y	probably damaging	Het
Gfm1	A	G	3: 67,457,918	I517V	probably benign	Het
Gng13	C	T	17: 25,718,722	Q8*	probably null	Het
Golga1	A	T	2: 39,018,441	S749T	probably damaging	Het
Gphn	A	T	12: 78,590,659	I381F	probably damaging	Het
Grm3	T	C	5: 9,504,794	N833D	probably damaging	Het
Gstt2	G	T	10: 75,832,432	T163K	probably damaging	Het
Gusb	A	T	5: 129,998,086	V388E	probably damaging	Het
Hcrtr2	A	T	9: 76,246,380	Y243*	probably null	Het
Hspg2	A	G	4: 137,515,423	T650A	possibly damaging	Het
Ints2	C	T	11: 86,248,851	V306I	probably damaging	Het
Itga1	T	A	13: 114,992,460	D554V	probably benign	Het
Itgam	C	T	7: 128,081,634	A245V	probably damaging	Het
Kcnk15	A	G	2: 163,858,323	T161A	probably benign	Het
Klhl18	A	T	9: 110,428,681	C564S	probably benign	Het
Krt40	T	A	11: 99,541,714	R159*	probably null	Het
L3mbtl4	G	A	17: 68,455,780	V103M	probably damaging	Het
Lnx2	C	A	5: 147,019,040	V649L	possibly damaging	Het
Lpp	A	T	16: 24,608,241	Q39H	probably damaging	Het
Lrpprc	A	T	17: 84,753,112		probably null	Het
Map3k19	A	T	1: 127,822,415	N1066K	probably benign	Het
Mbtps2	G	T	X: 157,568,368	T134K	probably benign	Het
Mfng	C	T	15: 78,764,437	V147M	possibly damaging	Het
Mks1	T	C	11: 87,857,928	S273P	probably benign	Het
Myh2	T	C	11: 67,180,821	L488P	probably damaging	Het
Myo15	A	G	11: 60,478,538	N708S	probably benign	Het
Myo6	A	T	9: 80,292,466	N1019I	probably damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Ncoa1	T	G	12: 4,295,976	N457T	probably benign	Het
Neb	T	C	2: 52,161,477		probably null	Het
Nlrp4e	C	A	7: 23,355,203	N927K	probably damaging	Het
Npffr2	T	C	5: 89,582,754	M181T	probably benign	Het
Nxf7	A	T	X: 135,584,383	C495S	possibly damaging	Het
Oas1g	T	C	5: 120,887,529	T12A	probably benign	Het
Olfr130	C	G	17: 38,067,671	R167G	possibly damaging	Het
Olfr23	T	A	11: 73,941,053	V269E	probably benign	Het
Olfr484	A	G	7: 108,124,816	V149A	probably benign	Het
Olfr591	A	T	7: 103,173,283	V118E	possibly damaging	Het
Olfr744	T	A	14: 50,618,579	L119Q	probably damaging	Het
Papln	C	T	12: 83,783,379	Q1008*	probably null	Het
Pcdhb10	A	C	18: 37,412,432	D187A	probably damaging	Het
Phf2	T	A	13: 48,804,489	E1016D	unknown	Het
Phf8	T	A	X: 151,552,622	D197E	probably benign	Het
Pikfyve	A	G	1: 65,196,706	H179R	probably damaging	Het
Prkcz	T	A	4: 155,269,140	D250V	probably damaging	Het
Prpf4	A	G	4: 62,422,605	Y419C	probably damaging	Het
Prr15l	C	A	11: 96,934,614	Y23*	probably null	Het
Prr5	T	A	15: 84,702,951	S301T	probably benign	Het
Psg16	T	A	7: 17,095,163	I224N	probably benign	Het
Radil	A	G	5: 142,543,471	F186L	probably damaging	Het
Reg3g	A	T	6: 78,468,561	M1K	probably null	Het
Rps6ka3	A	G	X: 159,317,967	Y76C	probably damaging	Het
Rtl1	C	T	12: 109,590,363	V1681I	possibly damaging	Het
Sfmbt1	C	T	14: 30,811,507	R614C	probably damaging	Het
Slc12a4	A	G	8: 105,951,967	S244P	probably benign	Het
Sptbn1	T	C	11: 30,139,250	T671A	possibly damaging	Het
Supt16	A	T	14: 52,174,113	N604K	probably damaging	Het
Synj2	G	A	17: 6,029,783	V1096I	probably benign	Het
Tas2r129	G	T	6: 132,951,196	C32F	probably benign	Het
Tbc1d25	T	C	X: 8,172,869	Y140C	probably damaging	Het
Tdrd7	A	G	4: 46,016,987	D709G	probably benign	Het
Tfap2d	C	T	1: 19,104,367	R15C	possibly damaging	Het
Tgfbi	C	A	13: 56,629,702	T333N	probably benign	Het
Tnk1	T	C	11: 69,855,682	Y235C	probably damaging	Het
Ttc17	A	G	2: 94,378,094	F144S	probably benign	Het
Twnk	G	T	19: 45,008,139	G337V	possibly damaging	Het
Unc13a	A	G	8: 71,658,032	F464L	probably benign	Het
Usp17le	C	A	7: 104,768,460	A492S	probably damaging	Het
Vmn1r213	A	T	13: 23,011,762	M172L	probably benign	Het
Vmn2r109	C	T	17: 20,541,074	V674M	probably damaging	Het
Vmn2r19	A	T	6: 123,335,986	I672F	possibly damaging	Het
Vmn2r77	T	C	7: 86,801,494	V196A	probably benign	Het
Xdh	T	A	17: 73,898,362	H1036L	probably damaging	Het
Zfp930	T	A	8: 69,228,296	Y214*	probably null	Het

Other mutations in Vmn1r71

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00984:Vmn1r71	APN	7	10748119	missense	probably damaging	0.99
IGL01921:Vmn1r71	APN	7	10748272	missense	probably benign	0.16
IGL02397:Vmn1r71	APN	7	10748272	missense	probably benign	0.27
IGL02654:Vmn1r71	APN	7	10748315	missense	probably benign	0.42
IGL02900:Vmn1r71	APN	7	10748674	missense	probably benign	0.28
IGL03236:Vmn1r71	APN	7	10748284	missense	probably benign	0.11
IGL03269:Vmn1r71	APN	7	10748644	missense	possibly damaging	0.88
FR4976:Vmn1r71	UTSW	7	10748121	missense	probably benign
R0443:Vmn1r71	UTSW	7	10748311	missense	probably benign	0.05
R0470:Vmn1r71	UTSW	7	10748092	missense	possibly damaging	0.64
R0471:Vmn1r71	UTSW	7	10748092	missense	possibly damaging	0.64
R0472:Vmn1r71	UTSW	7	10748092	missense	possibly damaging	0.64
R0567:Vmn1r71	UTSW	7	10748629	missense	probably damaging	1.00
R1498:Vmn1r71	UTSW	7	10748648	missense	probably benign	0.01
R1745:Vmn1r71	UTSW	7	10748269	missense	probably benign	0.05
R2350:Vmn1r71	UTSW	7	10747919	missense	probably benign	0.00
R2970:Vmn1r71	UTSW	7	10748714	missense	possibly damaging	0.67
R3522:Vmn1r71	UTSW	7	10747865	missense	probably benign	0.03
R4193:Vmn1r71	UTSW	7	10748248	missense	possibly damaging	0.55
R4736:Vmn1r71	UTSW	7	10747864	missense	possibly damaging	0.94
R5115:Vmn1r71	UTSW	7	10747958	missense	probably benign	0.00
R6108:Vmn1r71	UTSW	7	10748618	missense	probably benign	0.01
R6455:Vmn1r71	UTSW	7	10748404	missense	probably benign	0.01
R6582:Vmn1r71	UTSW	7	10748681	missense	probably benign	0.00
R6696:Vmn1r71	UTSW	7	10748474	missense	probably damaging	0.96
R6778:Vmn1r71	UTSW	7	10748216	missense	probably benign	0.02
R7347:Vmn1r71	UTSW	7	10748501	missense	not run
R7631:Vmn1r71	UTSW	7	10748451	missense	probably damaging	1.00
R7795:Vmn1r71	UTSW	7	10748209	missense	probably damaging	0.98
R7820:Vmn1r71	UTSW	7	10748725	missense	possibly damaging	0.85
R7836:Vmn1r71	UTSW	7	10748350	missense	possibly damaging	0.51
R7919:Vmn1r71	UTSW	7	10748350	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- ACGGATGTGTTGGACACTCTTCTTG -3'
(R):5'- GGCAGCCAATCTGGTGATACTTCTC -3'

Sequencing Primer
(F):5'- TTGCCAAGGCAGTAAGCA -3'
(R):5'- CGTTCAAGGATTTAGTCGAAGTATG -3'

Posted On

2013-04-24