Mutagenetix > Incidental Mutation

Incidental Mutation 'R7836:Vmn1r71'

605973

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r71

Ensembl Gene

ENSMUSG00000059206

Gene Name

vomeronasal 1 receptor 71

Synonyms

V1re13

MMRRC Submission

045890-MU

Accession Numbers

Essential gene?

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

Stock #

R7836 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10481429-10483465 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10482277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 137 (V137A)

Ref Sequence

ENSEMBL: ENSMUSP00000078116 (fasta)

Gene Model

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

AlphaFold

Q8VIC0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079113
AA Change: V137A

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000078116
Gene: ENSMUSG00000059206
AA Change: V137A

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

possibly damaging
Transcript: ENSMUST00000226874
AA Change: V137A

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227003
AA Change: V137A

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227702
AA Change: V137A

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227940
AA Change: V137A

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228098
AA Change: V137A

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228248
AA Change: V137A

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228374
AA Change: V137A

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228526
AA Change: V137A

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228561
AA Change: V71A

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (76/77)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	G	5: 8,984,203 (GRCm39)	S644R	probably benign	Het
Adra2a	A	G	19: 54,034,659 (GRCm39)	E5G	probably benign	Het
Ankrd1	A	T	19: 36,092,922 (GRCm39)	V201D	possibly damaging	Het
Ano9	A	T	7: 140,683,114 (GRCm39)	V598E	probably damaging	Het
Apob	T	A	12: 8,051,885 (GRCm39)	M1150K	possibly damaging	Het
BC005624	A	T	2: 30,864,032 (GRCm39)	I187N	probably damaging	Het
Bltp3b	C	T	10: 89,651,968 (GRCm39)	T1381I	probably benign	Het
Ccl9	T	C	11: 83,467,257 (GRCm39)	E31G	probably benign	Het
Cnnm4	T	A	1: 36,511,019 (GRCm39)	D82E	probably benign	Het
Coq10b	T	C	1: 55,092,013 (GRCm39)		probably benign	Het
Cplane1	T	G	15: 8,233,241 (GRCm39)	F1189V	probably damaging	Het
Cyb561	T	C	11: 105,830,935 (GRCm39)	N50S	probably benign	Het
Dctn4	G	T	18: 60,679,348 (GRCm39)	A223S	probably benign	Het
Dysf	A	G	6: 84,114,380 (GRCm39)	Y1223C	probably damaging	Het
Eed	C	T	7: 89,630,022 (GRCm39)		probably benign	Het
Eef1g	T	A	19: 8,954,738 (GRCm39)	V305E	probably benign	Het
Eif4ebp2	C	A	10: 61,270,772 (GRCm39)	A86S	probably benign	Het
Ermp1	T	C	19: 29,609,788 (GRCm39)		probably null	Het
Hid1	T	C	11: 115,249,821 (GRCm39)	Y198C	probably damaging	Het
Hoxd1	C	A	2: 74,593,816 (GRCm39)	A124E	probably benign	Het
Hyal5	G	A	6: 24,891,347 (GRCm39)	C387Y	probably damaging	Het
Il11	A	G	7: 4,778,999 (GRCm39)	S103P	probably damaging	Het
Lgalsl2	A	T	7: 5,362,507 (GRCm39)	K46M	probably damaging	Het
Lmtk3	A	C	7: 45,436,327 (GRCm39)	I128L	possibly damaging	Het
Lrrc4b	G	T	7: 44,094,316 (GRCm39)		probably benign	Het
Magel2	T	A	7: 62,028,116 (GRCm39)	I340N	possibly damaging	Het
Mfsd14a	A	T	3: 116,442,200 (GRCm39)	F71I	possibly damaging	Het
Mgarp	A	G	3: 51,296,487 (GRCm39)	S172P	probably benign	Het
Mug1	T	C	6: 121,847,611 (GRCm39)		probably null	Het
Naa15	G	T	3: 51,370,688 (GRCm39)	E651*	probably null	Het
Ndfip2	T	C	14: 105,529,675 (GRCm39)	V168A	probably benign	Het
Neb	C	A	2: 52,113,373 (GRCm39)		probably null	Het
Nfil3	A	G	13: 53,121,968 (GRCm39)	V312A	possibly damaging	Het
Nrap	T	C	19: 56,338,729 (GRCm39)	I953V	probably benign	Het
Ntrk1	T	A	3: 87,687,041 (GRCm39)	K706*	probably null	Het
Nuf2	A	T	1: 169,352,898 (GRCm39)	F36I	probably benign	Het
Or51h7	T	A	7: 102,591,125 (GRCm39)	T220S	possibly damaging	Het
Or5aq7	T	C	2: 86,937,861 (GRCm39)	Y290C	probably damaging	Het
Pcdh8	T	G	14: 80,006,101 (GRCm39)	T821P	possibly damaging	Het
Ppl	C	T	16: 4,906,725 (GRCm39)	R1190H	probably damaging	Het
Ptch2	C	A	4: 116,962,224 (GRCm39)		probably null	Het
Ptdss1	A	G	13: 67,081,719 (GRCm39)	I50V	probably benign	Het
Pth2r	G	T	1: 65,390,722 (GRCm39)	W292L	probably damaging	Het
Ptprd	G	A	4: 75,900,881 (GRCm39)	T825M	probably damaging	Het
Ptprk	T	C	10: 28,449,385 (GRCm39)	Y987H	probably damaging	Het
Qser1	T	C	2: 104,606,579 (GRCm39)	E1470G	probably damaging	Het
Rab11fip3	T	C	17: 26,287,232 (GRCm39)	E307G	possibly damaging	Het
Rims2	A	G	15: 39,544,475 (GRCm39)	Y1484C	probably damaging	Het
Rock1	A	T	18: 10,097,651 (GRCm39)		probably null	Het
Slc15a1	T	A	14: 121,718,145 (GRCm39)	K245*	probably null	Het
Snx11	T	A	11: 96,660,032 (GRCm39)	E219V	possibly damaging	Het
Sox21	C	A	14: 118,472,729 (GRCm39)	E107*	probably null	Het
Spink5	T	A	18: 44,132,888 (GRCm39)	H501Q	probably benign	Het
Stard5	C	T	7: 83,285,984 (GRCm39)	T103M	probably damaging	Het
Stfa2l1	A	T	16: 35,977,203 (GRCm39)		probably benign	Het
Sult1c2	A	C	17: 54,271,076 (GRCm39)	V185G	probably damaging	Het
Svs5	A	G	2: 164,079,500 (GRCm39)	S136P	possibly damaging	Het
Sytl3	T	A	17: 6,982,774 (GRCm39)		probably null	Het
Tc2n	C	T	12: 101,619,112 (GRCm39)	V349I	possibly damaging	Het
Tln1	A	G	4: 43,554,309 (GRCm39)	V271A	probably benign	Het
Tmem260	T	A	14: 48,746,519 (GRCm39)	S446R	probably benign	Het
Trim30a	T	C	7: 104,084,802 (GRCm39)	D136G	probably benign	Het
Ulk4	A	T	9: 120,873,885 (GRCm39)	I1182N	possibly damaging	Het
Unc50	T	G	1: 37,476,377 (GRCm39)	I179S	possibly damaging	Het
Upb1	T	A	10: 75,248,667 (GRCm39)	Y57*	probably null	Het
Usp34	C	T	11: 23,396,614 (GRCm39)	T2349I		Het
Vmn1r85	T	C	7: 12,818,698 (GRCm39)	I149V	probably benign	Het
Vmn2r118	A	G	17: 55,900,242 (GRCm39)	L554P	probably damaging	Het
Wdr4	C	G	17: 31,718,782 (GRCm39)		probably null	Het
Zbbx	A	T	3: 74,985,781 (GRCm39)	S424T	possibly damaging	Het
Zfp207	C	G	11: 80,282,726 (GRCm39)	P246A	probably damaging	Het
Zfp414	T	A	17: 33,848,962 (GRCm39)	Y65*	probably null	Het
Zfp600	T	A	4: 146,133,523 (GRCm39)	N730K	probably benign	Het
Zfp827	T	C	8: 79,912,979 (GRCm39)	L1073P	probably damaging	Het
Zfp986	A	G	4: 145,625,691 (GRCm39)	K117R	possibly damaging	Het
Zgrf1	T	A	3: 127,357,080 (GRCm39)	Y769N	probably damaging	Het
Zup1	A	T	10: 33,795,315 (GRCm39)	I547N	unknown	Het

Other mutations in Vmn1r71

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00984:Vmn1r71	APN	7	10,482,046 (GRCm39)	missense	probably damaging	0.99
IGL01921:Vmn1r71	APN	7	10,482,199 (GRCm39)	missense	probably benign	0.16
IGL02397:Vmn1r71	APN	7	10,482,199 (GRCm39)	missense	probably benign	0.27
IGL02654:Vmn1r71	APN	7	10,482,242 (GRCm39)	missense	probably benign	0.42
IGL02900:Vmn1r71	APN	7	10,482,601 (GRCm39)	missense	probably benign	0.28
IGL03236:Vmn1r71	APN	7	10,482,211 (GRCm39)	missense	probably benign	0.11
IGL03269:Vmn1r71	APN	7	10,482,571 (GRCm39)	missense	possibly damaging	0.88
FR4976:Vmn1r71	UTSW	7	10,482,048 (GRCm39)	missense	probably benign
R0389:Vmn1r71	UTSW	7	10,482,238 (GRCm39)	missense	probably benign	0.05
R0443:Vmn1r71	UTSW	7	10,482,238 (GRCm39)	missense	probably benign	0.05
R0470:Vmn1r71	UTSW	7	10,482,019 (GRCm39)	missense	possibly damaging	0.64
R0471:Vmn1r71	UTSW	7	10,482,019 (GRCm39)	missense	possibly damaging	0.64
R0472:Vmn1r71	UTSW	7	10,482,019 (GRCm39)	missense	possibly damaging	0.64
R0567:Vmn1r71	UTSW	7	10,482,556 (GRCm39)	missense	probably damaging	1.00
R1498:Vmn1r71	UTSW	7	10,482,575 (GRCm39)	missense	probably benign	0.01
R1745:Vmn1r71	UTSW	7	10,482,196 (GRCm39)	missense	probably benign	0.05
R2350:Vmn1r71	UTSW	7	10,481,846 (GRCm39)	missense	probably benign	0.00
R2970:Vmn1r71	UTSW	7	10,482,641 (GRCm39)	missense	possibly damaging	0.67
R3522:Vmn1r71	UTSW	7	10,481,792 (GRCm39)	missense	probably benign	0.03
R4193:Vmn1r71	UTSW	7	10,482,175 (GRCm39)	missense	possibly damaging	0.55
R4736:Vmn1r71	UTSW	7	10,481,791 (GRCm39)	missense	possibly damaging	0.94
R5115:Vmn1r71	UTSW	7	10,481,885 (GRCm39)	missense	probably benign	0.00
R6108:Vmn1r71	UTSW	7	10,482,545 (GRCm39)	missense	probably benign	0.01
R6455:Vmn1r71	UTSW	7	10,482,331 (GRCm39)	missense	probably benign	0.01
R6582:Vmn1r71	UTSW	7	10,482,608 (GRCm39)	missense	probably benign	0.00
R6696:Vmn1r71	UTSW	7	10,482,401 (GRCm39)	missense	probably damaging	0.96
R6778:Vmn1r71	UTSW	7	10,482,143 (GRCm39)	missense	probably benign	0.02
R7347:Vmn1r71	UTSW	7	10,482,428 (GRCm39)	missense	not run
R7631:Vmn1r71	UTSW	7	10,482,378 (GRCm39)	missense	probably damaging	1.00
R7795:Vmn1r71	UTSW	7	10,482,136 (GRCm39)	missense	probably damaging	0.98
R7820:Vmn1r71	UTSW	7	10,482,652 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- TGGAACCATGAGTGCTACGG -3'
(R):5'- GGGACTGAAGGAGTTCTTGAATC -3'

Sequencing Primer
(F):5'- ACCATGAGTGCTACGGATGTG -3'
(R):5'- ACTGAAGGAGTTCTTGAATCATTTAG -3'

Posted On

2019-12-20