Mutagenetix > Incidental Mutation

Incidental Mutation 'R7231:Vmn2r50'

562464

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r50

Ensembl Gene

ENSMUSG00000094606

Gene Name

vomeronasal 2, receptor 50

Synonyms

EG434117

MMRRC Submission

045342-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R7231 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9771162-9787105 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 9787010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 32 (N32K)

Ref Sequence

ENSEMBL: ENSMUSP00000083478 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074943] [ENSMUST00000086298]

AlphaFold

E9PW61

Predicted Effect

probably benign
Transcript: ENSMUST00000074943
AA Change: N32K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000074476
Gene: ENSMUSG00000094606
AA Change: N32K

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	73	469	1.4e-32	PFAM
Pfam:NCD3G	512	565	2.9e-20	PFAM
Pfam:7tm_3	597	833	1.3e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000086298
AA Change: N32K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000083478
Gene: ENSMUSG00000094606
AA Change: N32K

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	73	452	7e-31	PFAM
Pfam:NCD3G	496	549	5.3e-19	PFAM
Pfam:7tm_3	579	818	3.9e-78	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

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

Validation Efficiency

98% (78/80)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,244,175 (GRCm39)	T2013S	probably benign	Het
Ablim3	A	G	18: 61,938,135 (GRCm39)		probably null	Het
Acvrl1	T	A	15: 101,034,104 (GRCm39)	C206*	probably null	Het
Adamts15	C	A	9: 30,817,454 (GRCm39)	R541S	probably damaging	Het
Add3	A	G	19: 53,221,577 (GRCm39)	I230V	probably benign	Het
Ankrd27	A	G	7: 35,327,871 (GRCm39)	D742G	possibly damaging	Het
Asxl3	A	G	18: 22,650,597 (GRCm39)	E862G	probably damaging	Het
Asxl3	A	T	18: 22,544,556 (GRCm39)		probably null	Het
Atp2b2	G	A	6: 113,742,693 (GRCm39)	T798M	possibly damaging	Het
Car12	T	C	9: 66,659,599 (GRCm39)	I208T	probably damaging	Het
Cgn	T	A	3: 94,680,502 (GRCm39)	Q600L	probably damaging	Het
Cgnl1	C	T	9: 71,539,927 (GRCm39)	A1106T	probably benign	Het
Cmtr2	T	C	8: 110,949,178 (GRCm39)	V496A	probably benign	Het
Cplx4	C	A	18: 66,090,123 (GRCm39)	D99Y	probably damaging	Het
Cyfip2	T	C	11: 46,114,963 (GRCm39)	T915A	probably benign	Het
Cyp4a32	T	C	4: 115,466,894 (GRCm39)	L193P	probably damaging	Het
Dennd5b	C	T	6: 148,946,102 (GRCm39)	R503Q	probably damaging	Het
Depdc5	C	A	5: 33,059,209 (GRCm39)	Q303K	possibly damaging	Het
Dlx1	T	A	2: 71,362,840 (GRCm39)	M249K	possibly damaging	Het
Dnah10	A	T	5: 124,890,892 (GRCm39)	E3218V	probably benign	Het
Dnah9	T	C	11: 65,856,473 (GRCm39)	D2896G	probably damaging	Het
Dtx4	C	A	19: 12,447,022 (GRCm39)	G557*	probably null	Het
Eps8l2	A	G	7: 140,940,305 (GRCm39)	N512D	probably damaging	Het
Fam20a	T	C	11: 109,612,201 (GRCm39)	D114G	possibly damaging	Het
Fbln1	T	C	15: 85,090,353 (GRCm39)	S7P	unknown	Het
Fli1	T	C	9: 32,335,484 (GRCm39)	E316G	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Haus8	G	A	8: 71,705,781 (GRCm39)	T302I	probably benign	Het
Hmcn1	T	C	1: 150,514,627 (GRCm39)	I3582V	probably benign	Het
Hnrnpul1	G	A	7: 25,447,842 (GRCm39)	Q161*	probably null	Het
Hsf4	C	T	8: 105,998,779 (GRCm39)	A223V	probably damaging	Het
Ighg2c	A	G	12: 113,251,636 (GRCm39)	W164R		Het
Isl1	A	G	13: 116,439,826 (GRCm39)	V174A	probably benign	Het
Itih4	A	T	14: 30,618,571 (GRCm39)	I661F	probably benign	Het
Klhl14	A	T	18: 21,785,193 (GRCm39)	L78Q	probably damaging	Het
L3mbtl3	T	A	10: 26,215,180 (GRCm39)	I177F	unknown	Het
Lingo3	T	A	10: 80,670,938 (GRCm39)	T331S	possibly damaging	Het
Lrrc36	T	C	8: 106,187,689 (GRCm39)	V535A	possibly damaging	Het
Mapk8ip2	T	G	15: 89,342,279 (GRCm39)	S497A	probably benign	Het
Mbip	A	G	12: 56,384,547 (GRCm39)		probably null	Het
Nelfa	C	T	5: 34,056,169 (GRCm39)	G498D	probably damaging	Het
Nherf2	C	T	17: 24,869,078 (GRCm39)	R16H	probably damaging	Het
Nlrc5	T	A	8: 95,248,433 (GRCm39)		probably null	Het
Or2ag2b	A	T	7: 106,417,650 (GRCm39)	Y120F	probably damaging	Het
Or4f59	A	T	2: 111,872,711 (GRCm39)	V222D	probably damaging	Het
Or56a3	T	C	7: 104,734,994 (GRCm39)	S24P	possibly damaging	Het
Or7e171-ps1	T	A	9: 19,852,855 (GRCm39)	T294S	unknown	Het
Pde2a	A	G	7: 101,155,160 (GRCm39)	Y567C	probably damaging	Het
Pdia4	A	T	6: 47,777,891 (GRCm39)	F367Y	probably benign	Het
Pkdrej	C	A	15: 85,700,389 (GRCm39)	C1849F	possibly damaging	Het
Plekhj1	T	G	10: 80,633,492 (GRCm39)	T52P	probably damaging	Het
Ppp2r5d	A	T	17: 46,994,986 (GRCm39)	Y572N	probably benign	Het
Prkcq	T	A	2: 11,295,262 (GRCm39)	Y570*	probably null	Het
Ptpn3	T	A	4: 57,245,062 (GRCm39)	D226V	probably damaging	Het
Rab1b	A	G	19: 5,155,229 (GRCm39)	S22P	probably damaging	Het
Ralgapa1	A	G	12: 55,650,976 (GRCm39)	S2060P	probably damaging	Het
Rnf148	G	T	6: 23,654,890 (GRCm39)	S35R	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Samd15	T	A	12: 87,247,818 (GRCm39)	S168T	possibly damaging	Het
Slc26a4	T	A	12: 31,597,945 (GRCm39)	N167I	probably damaging	Het
Slc39a1	C	A	3: 90,159,097 (GRCm39)	H141Q	probably benign	Het
Snx21	T	C	2: 164,628,121 (GRCm39)	S46P	probably benign	Het
Strip2	A	G	6: 29,944,486 (GRCm39)	S657G	probably damaging	Het
Stxbp3	G	A	3: 108,708,125 (GRCm39)	P392L	probably damaging	Het
Suclg1	G	A	6: 73,240,954 (GRCm39)	R161H	probably benign	Het
Tas1r3	T	C	4: 155,947,283 (GRCm39)	Y134C	probably damaging	Het
Tgif1	T	A	17: 71,153,168 (GRCm39)	Q114L	probably damaging	Het
Tll2	A	G	19: 41,074,673 (GRCm39)	F964L	probably benign	Het
Tmem181a	T	C	17: 6,348,195 (GRCm39)	S247P	possibly damaging	Het
Trav23	A	T	14: 54,215,025 (GRCm39)	R79S	probably damaging	Het
Trf	C	A	9: 103,102,347 (GRCm39)	C177F	probably damaging	Het
Triml1	T	C	8: 43,589,408 (GRCm39)	Y260C	probably benign	Het
Tulp4	T	C	17: 6,286,510 (GRCm39)	F1513L	probably benign	Het
Umodl1	G	A	17: 31,205,090 (GRCm39)	V562I	probably damaging	Het
Ush2a	A	G	1: 188,491,960 (GRCm39)	K3083R	possibly damaging	Het
Vmn1r74	A	T	7: 11,580,888 (GRCm39)	I63F	probably benign	Het
Vmn2r38	C	T	7: 9,100,637 (GRCm39)	C43Y	possibly damaging	Het
Vps13d	A	G	4: 144,784,032 (GRCm39)	V3914A		Het
Vwa5b2	A	G	16: 20,422,878 (GRCm39)	T984A	probably benign	Het
Zc3h3	C	T	15: 75,712,231 (GRCm39)	V77M	probably damaging	Het
Zfp397	A	T	18: 24,093,415 (GRCm39)	H300L	probably damaging	Het
Zfp950	G	A	19: 61,107,650 (GRCm39)	R478C	probably benign	Het

Other mutations in Vmn2r50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01536:Vmn2r50	APN	7	9,771,610 (GRCm39)	missense	probably damaging	1.00
IGL01739:Vmn2r50	APN	7	9,771,364 (GRCm39)	missense	probably damaging	1.00
IGL02351:Vmn2r50	APN	7	9,787,002 (GRCm39)	missense	probably benign	0.01
IGL02358:Vmn2r50	APN	7	9,787,002 (GRCm39)	missense	probably benign	0.01
IGL02871:Vmn2r50	APN	7	9,781,714 (GRCm39)	missense	possibly damaging	0.91
IGL02962:Vmn2r50	APN	7	9,784,252 (GRCm39)	missense	probably damaging	1.00
IGL03187:Vmn2r50	APN	7	9,771,368 (GRCm39)	missense	probably damaging	1.00
IGL03346:Vmn2r50	APN	7	9,779,929 (GRCm39)	missense	probably damaging	0.99
PIT4651001:Vmn2r50	UTSW	7	9,771,659 (GRCm39)	missense	probably benign	0.30
R0530:Vmn2r50	UTSW	7	9,781,644 (GRCm39)	missense	possibly damaging	0.82
R1291:Vmn2r50	UTSW	7	9,771,404 (GRCm39)	missense	probably damaging	0.98
R1438:Vmn2r50	UTSW	7	9,784,062 (GRCm39)	nonsense	probably null
R1713:Vmn2r50	UTSW	7	9,771,731 (GRCm39)	missense	probably damaging	1.00
R1747:Vmn2r50	UTSW	7	9,781,605 (GRCm39)	missense	probably benign	0.20
R1750:Vmn2r50	UTSW	7	9,786,915 (GRCm39)	missense	possibly damaging	0.69
R1918:Vmn2r50	UTSW	7	9,781,610 (GRCm39)	missense	probably benign	0.03
R2435:Vmn2r50	UTSW	7	9,787,026 (GRCm39)	missense	probably benign	0.27
R2511:Vmn2r50	UTSW	7	9,781,640 (GRCm39)	missense	possibly damaging	0.81
R3795:Vmn2r50	UTSW	7	9,771,851 (GRCm39)	missense	probably benign	0.18
R4156:Vmn2r50	UTSW	7	9,774,309 (GRCm39)	missense	probably benign	0.12
R4332:Vmn2r50	UTSW	7	9,786,922 (GRCm39)	missense	probably benign	0.32
R4399:Vmn2r50	UTSW	7	9,781,834 (GRCm39)	missense	possibly damaging	0.81
R4411:Vmn2r50	UTSW	7	9,784,235 (GRCm39)	missense	probably damaging	0.99
R4412:Vmn2r50	UTSW	7	9,784,235 (GRCm39)	missense	probably damaging	0.99
R4413:Vmn2r50	UTSW	7	9,784,235 (GRCm39)	missense	probably damaging	0.99
R4645:Vmn2r50	UTSW	7	9,771,162 (GRCm39)	makesense	probably null
R5151:Vmn2r50	UTSW	7	9,786,970 (GRCm39)	missense	probably benign	0.00
R5175:Vmn2r50	UTSW	7	9,771,644 (GRCm39)	missense	probably damaging	1.00
R5291:Vmn2r50	UTSW	7	9,781,752 (GRCm39)	missense	probably damaging	1.00
R5457:Vmn2r50	UTSW	7	9,781,873 (GRCm39)	missense	probably damaging	0.98
R5559:Vmn2r50	UTSW	7	9,771,253 (GRCm39)	missense	probably damaging	1.00
R5579:Vmn2r50	UTSW	7	9,784,016 (GRCm39)	missense	probably benign	0.00
R5711:Vmn2r50	UTSW	7	9,774,299 (GRCm39)	missense	possibly damaging	0.81
R5759:Vmn2r50	UTSW	7	9,781,905 (GRCm39)	missense	probably damaging	1.00
R6004:Vmn2r50	UTSW	7	9,783,986 (GRCm39)	missense	probably benign	0.00
R6394:Vmn2r50	UTSW	7	9,774,253 (GRCm39)	missense	probably damaging	1.00
R6488:Vmn2r50	UTSW	7	9,771,644 (GRCm39)	missense	probably damaging	1.00
R6762:Vmn2r50	UTSW	7	9,787,010 (GRCm39)	missense	probably benign	0.04
R6995:Vmn2r50	UTSW	7	9,779,964 (GRCm39)	nonsense	probably null
R6998:Vmn2r50	UTSW	7	9,771,684 (GRCm39)	missense	probably benign	0.03
R7019:Vmn2r50	UTSW	7	9,784,172 (GRCm39)	missense	probably benign	0.01
R7027:Vmn2r50	UTSW	7	9,781,539 (GRCm39)	missense	probably damaging	1.00
R7343:Vmn2r50	UTSW	7	9,784,277 (GRCm39)	critical splice acceptor site	probably null
R7554:Vmn2r50	UTSW	7	9,784,066 (GRCm39)	missense	probably null	0.00
R7704:Vmn2r50	UTSW	7	9,781,665 (GRCm39)	missense	probably benign	0.05
R7768:Vmn2r50	UTSW	7	9,771,298 (GRCm39)	missense	probably damaging	0.99
R7773:Vmn2r50	UTSW	7	9,771,562 (GRCm39)	missense	possibly damaging	0.70
R7975:Vmn2r50	UTSW	7	9,771,272 (GRCm39)	missense	probably benign	0.39
R7987:Vmn2r50	UTSW	7	9,772,016 (GRCm39)	missense	probably benign	0.14
R7996:Vmn2r50	UTSW	7	9,781,795 (GRCm39)	missense	probably damaging	0.99
R8062:Vmn2r50	UTSW	7	9,774,240 (GRCm39)	critical splice donor site	probably null
R8396:Vmn2r50	UTSW	7	9,781,639 (GRCm39)	nonsense	probably null
R8466:Vmn2r50	UTSW	7	9,783,997 (GRCm39)	missense	probably damaging	0.97
R8985:Vmn2r50	UTSW	7	9,779,974 (GRCm39)	missense	probably damaging	1.00
R9068:Vmn2r50	UTSW	7	9,772,061 (GRCm39)	missense	possibly damaging	0.46
R9155:Vmn2r50	UTSW	7	9,781,571 (GRCm39)	missense	probably damaging	1.00
R9238:Vmn2r50	UTSW	7	9,781,503 (GRCm39)	missense	probably benign	0.01
R9576:Vmn2r50	UTSW	7	9,771,190 (GRCm39)	missense	probably benign
R9626:Vmn2r50	UTSW	7	9,771,960 (GRCm39)	nonsense	probably null
R9631:Vmn2r50	UTSW	7	9,786,990 (GRCm39)	nonsense	probably null
X0067:Vmn2r50	UTSW	7	9,786,954 (GRCm39)	missense	probably damaging	0.99
Z1088:Vmn2r50	UTSW	7	9,780,086 (GRCm39)	missense	probably benign	0.01
Z1088:Vmn2r50	UTSW	7	9,771,427 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- GTGTTCAGACTTAGCAACAGGAC -3'
(R):5'- ATGCAATAAACCTCACCTTTGC -3'

Sequencing Primer
(F):5'- TCAGACTTAGCAACAGGACAGAAGTC -3'
(R):5'- TTGCACAAAGAAATAAATGCAAGC -3'

Posted On

2019-06-26