Mutagenetix > Incidental Mutation

Incidental Mutation 'R5683:Vmn1r180'

443184

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r180

Ensembl Gene

ENSMUSG00000092473

Gene Name

vomeronasal 1 receptor 180

Synonyms

LOC232962, V1rd16

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R5683 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23950632-23955691 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 23953210 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 266 (D266A)

Ref Sequence

ENSEMBL: ENSMUSP00000134362 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000173816]

AlphaFold

B9EK86

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173816
AA Change: D266A

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134362
Gene: ENSMUSG00000092473
AA Change: D266A

Domain	Start	End	E-Value	Type
Pfam:TAS2R	8	298	2.9e-15	PFAM
Pfam:7tm_1	31	286	6.7e-9	PFAM
Pfam:V1R	41	297	1.4e-17	PFAM

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.0%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	C	11: 72,202,440	M22R	probably benign	Het
Acad11	A	G	9: 104,084,283	E397G	probably damaging	Het
Actrt3	A	T	3: 30,598,278	D222E	probably benign	Het
Akap11	A	T	14: 78,512,578	S790T	probably damaging	Het
Arhgap5	T	A	12: 52,519,586	D1113E	probably benign	Het
Arl2	C	A	19: 6,134,764	R153L	probably benign	Het
B3glct	T	A	5: 149,696,437	M19K	probably benign	Het
Ccdc138	C	A	10: 58,540,819	Q425K	probably damaging	Het
Ccdc178	T	A	18: 22,130,122	K143N	probably benign	Het
Cd200r4	T	A	16: 44,832,948	I73K	probably benign	Het
Chaf1b	A	G	16: 93,887,142	K94E	possibly damaging	Het
Cmtm2a	T	C	8: 104,293,044		probably null	Het
Dnhd1	G	A	7: 105,703,209	R2523Q	probably damaging	Het
Fnbp4	C	A	2: 90,752,862	N277K	probably damaging	Het
Htr7	C	A	19: 35,969,871	A248S	probably damaging	Het
Itsn1	T	C	16: 91,905,380	Y37H	probably benign	Het
Kdm8	A	G	7: 125,455,173	Y16C	possibly damaging	Het
Kif1b	A	T	4: 149,222,261	Y881N	probably damaging	Het
Lhcgr	C	T	17: 88,772,019	V80I	probably benign	Het
Lrriq1	T	A	10: 103,173,375	L1082F	probably damaging	Het
Met	A	G	6: 17,571,744	Y1354C	probably damaging	Het
Nbea	A	G	3: 55,628,586	L2859P	possibly damaging	Het
Ndufaf5	T	A	2: 140,202,923	M279K	possibly damaging	Het
Nlrp4e	T	C	7: 23,353,272	I872T	probably damaging	Het
Npnt	A	T	3: 132,906,840		probably null	Het
Nsd1	G	A	13: 55,246,148	V521I	probably benign	Het
Olfr138	G	A	17: 38,275,546	M258I	possibly damaging	Het
Pak6	T	A	2: 118,693,912	Y469N	probably damaging	Het
Parp4	C	T	14: 56,647,429	R1322*	probably null	Het
Pax6	T	C	2: 105,685,907	Y177H	probably benign	Het
Pcdhb4	A	T	18: 37,308,989	T451S	probably benign	Het
Pcdhgb5	A	T	18: 37,731,854	D234V	probably damaging	Het
Pramef6	A	G	4: 143,895,853	S311P	probably damaging	Het
Ralb	G	A	1: 119,475,956	A147V	possibly damaging	Het
Rgs11	A	G	17: 26,205,181	K196E	probably benign	Het
Rnft1	A	T	11: 86,491,790	T280S	probably benign	Het
Slco4c1	G	T	1: 96,867,834	H166Q	probably damaging	Het
Sycp3	T	C	10: 88,472,935	S248P	probably damaging	Het
Tab2	A	G	10: 7,919,112		probably null	Het
Tgm6	T	C	2: 130,138,955	M224T	probably damaging	Het
Topbp1	A	T	9: 103,312,804	E193V	possibly damaging	Het
Trim36	T	C	18: 46,169,292	Y551C	probably damaging	Het
Ttc17	T	C	2: 94,362,521	Y628C	probably damaging	Het
Vmn2r104	T	A	17: 20,040,719	K481*	probably null	Het
Zc3hav1	A	G	6: 38,307,237	V981A	probably damaging	Het

Other mutations in Vmn1r180

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00487:Vmn1r180	APN	7	23952523	missense	probably benign	0.36
IGL01309:Vmn1r180	APN	7	23952999	missense	probably damaging	1.00
IGL01793:Vmn1r180	APN	7	23953243	missense	probably benign	0.00
IGL02653:Vmn1r180	APN	7	23953075	missense	probably damaging	1.00
IGL03277:Vmn1r180	APN	7	23953285	missense	probably damaging	0.99
IGL03352:Vmn1r180	APN	7	23952652	nonsense	probably null
R1298:Vmn1r180	UTSW	7	23953147	missense	possibly damaging	0.84
R1701:Vmn1r180	UTSW	7	23952970	missense	possibly damaging	0.84
R1702:Vmn1r180	UTSW	7	23952969	missense	possibly damaging	0.52
R2122:Vmn1r180	UTSW	7	23953141	missense	probably damaging	1.00
R4241:Vmn1r180	UTSW	7	23952873	missense	probably damaging	1.00
R7241:Vmn1r180	UTSW	7	23952466	missense	probably damaging	0.96
R7522:Vmn1r180	UTSW	7	23953260	missense	probably damaging	1.00
R8749:Vmn1r180	UTSW	7	23952990	missense	probably damaging	1.00
R8991:Vmn1r180	UTSW	7	23952651	missense	probably benign	0.06
R9442:Vmn1r180	UTSW	7	23952195	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CTTCTCCTCCGTAGACATCAACAG -3'
(R):5'- GTGAGAACCACACCTGATTCATAAAAG -3'

Sequencing Primer
(F):5'- TCCGTAGACATCAACAGCAAATG -3'
(R):5'- GAACAAGGATTCTTAGGGTCT -3'

Posted On

2016-11-09