Mutagenetix > Incidental Mutation

Incidental Mutation 'R7522:Vmn1r180'

582712

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r180

Ensembl Gene

ENSMUSG00000092473

Gene Name

vomeronasal 1 receptor 180

Synonyms

LOC232962, V1rd16

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R7522 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23950632-23955691 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 23953260 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Alanine at position 283 (P283A)

Ref Sequence

ENSEMBL: ENSMUSP00000134362 (fasta)

Gene Model

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

AlphaFold

B9EK86

Predicted Effect

probably damaging
Transcript: ENSMUST00000173816
AA Change: P283A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134362
Gene: ENSMUSG00000092473
AA Change: P283A

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

Validation Efficiency

97% (75/77)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030014E15Rik	G	T	1: 82,925,228	C82F	unknown	Het
Adam21	G	C	12: 81,558,948	T680R	possibly damaging	Het
Adgrf4	A	C	17: 42,669,784	Y137D	probably benign	Het
Ago3	T	C	4: 126,363,807	K477R	probably benign	Het
Ahnak	T	A	19: 9,002,322	D323E	probably benign	Het
Amph	A	G	13: 19,086,545	D108G	probably damaging	Het
Ankrd10	A	T	8: 11,632,910	C106S	probably damaging	Het
Bmp5	A	T	9: 75,776,102	T4S	probably benign	Het
Brix1	G	A	15: 10,476,590	R267C	probably damaging	Het
Calcrl	G	A	2: 84,373,364	S24L	probably benign	Het
Ccdc40	T	G	11: 119,232,221	I213R	possibly damaging	Het
Cd300lg	A	G	11: 102,054,202	I413V	probably benign	Het
Cdh3	G	A	8: 106,541,373	D347N	probably damaging	Het
Clcn3	T	C	8: 60,941,412	T55A	probably benign	Het
Cnga4	A	G	7: 105,405,988	T260A	probably damaging	Het
Cpne8	G	T	15: 90,601,819	P147Q	probably benign	Het
Cpsf6	A	G	10: 117,367,829	Y74H	unknown	Het
Cryl1	A	T	14: 57,275,971	S264R	probably benign	Het
Cyp39a1	C	T	17: 43,667,479		probably benign	Het
Cyp4f39	T	C	17: 32,486,972	S346P	probably damaging	Het
Ddhd1	G	A	14: 45,657,647	A122V	possibly damaging	Het
Dnmt1	C	A	9: 20,920,202	C662F	probably damaging	Het
E2f6	G	A	12: 16,822,124	G190S	probably benign	Het
Esp34	A	T	17: 38,559,541	I109F	possibly damaging	Het
Espl1	A	T	15: 102,305,051	D604V	probably damaging	Het
Exo1	T	C	1: 175,901,304	C645R	probably benign	Het
Fah	A	G	7: 84,597,074	V189A	probably benign	Het
Fam184b	A	C	5: 45,530,751	Y939D	probably damaging	Het
Fam49a	A	G	12: 12,358,056	T28A	possibly damaging	Het
Fchsd2	T	A	7: 101,259,622	L410*	probably null	Het
Gak	A	T	5: 108,591,199	I665N	possibly damaging	Het
Galnt9	A	G	5: 110,595,839		probably null	Het
Gcg	T	C	2: 62,475,759	R165G	probably benign	Het
Hexdc	T	C	11: 121,218,097	V214A	possibly damaging	Het
Hoxb3	A	T	11: 96,344,681	S145C	probably damaging	Het
Il18	A	G	9: 50,575,340	Y23C	probably damaging	Het
Itgav	A	T	2: 83,802,029	I954F	probably benign	Het
Kcna4	A	G	2: 107,296,255	R445G	probably damaging	Het
Kyat3	T	A	3: 142,734,544	L343Q	probably damaging	Het
Lgals4	A	T	7: 28,837,692	D139V	possibly damaging	Het
Lrp3	C	T	7: 35,204,330	G197D	probably damaging	Het
Lyst	T	A	13: 13,647,083	C1347*	probably null	Het
Man2a2	G	C	7: 80,368,865	A82G	probably benign	Het
Map3k4	T	C	17: 12,261,332	Q661R	probably benign	Het
Marcks	A	C	10: 37,136,581	F153V	unknown	Het
Mocs1	T	C	17: 49,435,264		probably null	Het
Naa60	A	G	16: 3,901,904	T232A	probably benign	Het
Olfr1189	A	G	2: 88,592,661	T286A	possibly damaging	Het
Olfr453	T	A	6: 42,744,634	I199N	probably damaging	Het
Olfr700	A	G	7: 106,805,787	V225A	probably damaging	Het
Olfr845	T	A	9: 19,338,998	C179*	probably null	Het
Oosp1	A	T	19: 11,688,701	I75N	probably benign	Het
Opn3	A	G	1: 175,665,623	V125A	probably benign	Het
Palb2	T	C	7: 122,113,278	T947A	probably damaging	Het
Pde5a	C	T	3: 122,840,999	R730*	probably null	Het
Plcl1	T	C	1: 55,696,364	I288T	probably benign	Het
Plxnb2	A	G	15: 89,161,774	I966T	probably benign	Het
Prkcz	T	C	4: 155,271,285	E400G	probably damaging	Het
Prpf8	A	G	11: 75,509,276	D2332G	possibly damaging	Het
Ptgds	T	G	2: 25,467,908	T154P	probably benign	Het
Rel	T	C	11: 23,770,676		probably null	Het
Serpinb1c	T	A	13: 32,882,217	K248N	probably benign	Het
Shkbp1	A	C	7: 27,347,158	W394G	possibly damaging	Het
Slc47a2	A	G	11: 61,302,250	V559A	probably benign	Het
Sox6	A	T	7: 115,801,578	F10I	probably damaging	Het
Stkld1	T	C	2: 26,947,247	V303A	probably benign	Het
Styk1	T	A	6: 131,312,840		probably null	Het
Tet1	T	C	10: 62,818,983	T1574A	possibly damaging	Het
Tkt	A	T	14: 30,568,223	I270F	possibly damaging	Het
Tmem5	A	G	10: 122,081,439	W390R	probably damaging	Het
Trak1	A	G	9: 121,442,711	E166G	probably damaging	Het
Tsc2	A	T	17: 24,630,965	I58N	probably damaging	Het
Uhmk1	T	A	1: 170,215,240	M1L	probably benign	Het
Usp50	T	C	2: 126,783,226	Y21C	probably damaging	Het
Vmn1r83	A	G	7: 12,321,578	M184T	possibly damaging	Het
Vmn2r109	A	G	17: 20,554,403	I230T	probably benign	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
R5683:Vmn1r180	UTSW	7	23953210	missense	possibly damaging	0.58
R7241:Vmn1r180	UTSW	7	23952466	missense	probably damaging	0.96
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'- ACTCCCAATCAGGATGCCAG -3'
(R):5'- ACTGTCAGTCATATTCCAACCAG -3'

Sequencing Primer
(F):5'- CAGAGGCCAAGCTGAGACC -3'
(R):5'- TGTCAGTCATATTCCAACCAGAAATC -3'

Posted On

2019-10-17