Mutagenetix > Incidental Mutation

Incidental Mutation 'R6574:Vmn2r94'

523370

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r94

Ensembl Gene

ENSMUSG00000090417

Gene Name

vomeronasal 2, receptor 94

Synonyms

EG665227

MMRRC Submission

044698-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R6574 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18461384-18498018 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 18476421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 425 (N425K)

Ref Sequence

ENSEMBL: ENSMUSP00000156288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172190] [ENSMUST00000231457] [ENSMUST00000231815]

AlphaFold

E9PZK8

Predicted Effect

probably damaging
Transcript: ENSMUST00000172190
AA Change: N425K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126386
Gene: ENSMUSG00000090417
AA Change: N425K

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	42	425	1.7e-35	PFAM
Pfam:NCD3G	469	522	3.5e-21	PFAM
Pfam:7tm_3	553	790	1.7e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231457

Predicted Effect

probably damaging
Transcript: ENSMUST00000231815
AA Change: N425K

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	A	C	3: 146,356,613 (GRCm39)	D98E	probably benign	Het
Ackr3	T	C	1: 90,141,790 (GRCm39)	I83T	probably damaging	Het
Ahnak	A	T	19: 8,994,411 (GRCm39)	M5232L	probably benign	Het
Ano1	A	C	7: 144,161,653 (GRCm39)		probably null	Het
Arap1	T	A	7: 101,053,208 (GRCm39)	I532N	probably damaging	Het
Bsn	A	G	9: 107,991,153 (GRCm39)	V1533A	possibly damaging	Het
Ccdc83	T	C	7: 89,875,885 (GRCm39)	S329G	possibly damaging	Het
Ccno	T	A	13: 113,124,719 (GRCm39)	D96E	probably benign	Het
Cpsf1	CCCCTGCATGAGGCAGGTCCC	CCCC	15: 76,481,655 (GRCm39)		probably null	Het
Degs1	T	C	1: 182,106,638 (GRCm39)	Y207C	probably damaging	Het
Dnah7a	A	T	1: 53,495,693 (GRCm39)		probably null	Het
Dnah9	C	T	11: 66,059,107 (GRCm39)	A63T	probably benign	Het
Eif4e1b	T	C	13: 54,932,711 (GRCm39)	F100S	probably damaging	Het
Eps8	A	T	6: 137,460,596 (GRCm39)	Y722*	probably null	Het
Etfa	A	T	9: 55,402,910 (GRCm39)	I96N	probably damaging	Het
Flt4	A	G	11: 49,516,199 (GRCm39)	T101A	probably benign	Het
Gabra4	A	G	5: 71,781,268 (GRCm39)	I381T	probably benign	Het
Gria2	A	G	3: 80,596,603 (GRCm39)	V821A	probably damaging	Het
Gss	G	T	2: 155,423,931 (GRCm39)	T51K	probably damaging	Het
Igkv13-84	C	A	6: 68,916,977 (GRCm39)	Y91*	probably null	Het
Iqcb1	A	T	16: 36,691,863 (GRCm39)	Q487H	probably damaging	Het
Itga8	G	A	2: 12,234,972 (GRCm39)	H429Y	probably benign	Het
Myo1c	T	G	11: 75,547,124 (GRCm39)		probably benign	Het
Odad2	C	A	18: 7,129,394 (GRCm39)		probably null	Het
Pcdhga5	T	C	18: 37,828,434 (GRCm39)	L294P	probably damaging	Het
Pkd2l2	T	C	18: 34,558,134 (GRCm39)	L271P	probably damaging	Het
Plcb2	T	C	2: 118,549,654 (GRCm39)	D290G	probably damaging	Het
Pmp22	C	T	11: 63,049,099 (GRCm39)	A114V	probably damaging	Het
Ppp1r15a	T	C	7: 45,173,533 (GRCm39)	D425G	probably benign	Het
Ppp2r3d	G	A	9: 101,071,584 (GRCm39)	P678L	probably benign	Het
Ptbp2	T	G	3: 119,541,596 (GRCm39)	Q147P	probably damaging	Het
Sez6l	A	G	5: 112,724,692 (GRCm39)	S15P	possibly damaging	Het
Slc25a10	T	C	11: 120,387,903 (GRCm39)	F199L	probably benign	Het
Slc4a8	A	G	15: 100,705,197 (GRCm39)	N801S	probably damaging	Het
Sucnr1	T	C	3: 59,994,020 (GRCm39)	Y183H	probably damaging	Het
Tmem67	T	C	4: 12,063,086 (GRCm39)	D520G	possibly damaging	Het
Trgc3	G	T	13: 19,445,293 (GRCm39)	R80S	probably benign	Het
Trrap	G	T	5: 144,752,360 (GRCm39)		probably null	Het
Tubgcp5	C	T	7: 55,473,331 (GRCm39)	P803L	probably benign	Het
Ubash3a	A	T	17: 31,451,370 (GRCm39)	Q423L	probably damaging	Het
Ucp1	G	A	8: 84,020,718 (GRCm39)		probably null	Het
Vps52	A	G	17: 34,181,452 (GRCm39)	M418V	probably null	Het

Other mutations in Vmn2r94

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01396:Vmn2r94	APN	17	18,477,301 (GRCm39)	missense	probably damaging	1.00
IGL01676:Vmn2r94	APN	17	18,477,272 (GRCm39)	missense	probably benign
IGL01687:Vmn2r94	APN	17	18,473,574 (GRCm39)	missense	possibly damaging	0.64
IGL02113:Vmn2r94	APN	17	18,477,937 (GRCm39)	missense	probably damaging	0.99
IGL02408:Vmn2r94	APN	17	18,473,523 (GRCm39)	missense	probably benign	0.01
IGL02451:Vmn2r94	APN	17	18,478,453 (GRCm39)	missense	possibly damaging	0.95
IGL02755:Vmn2r94	APN	17	18,464,761 (GRCm39)	missense	probably benign	0.01
IGL02822:Vmn2r94	APN	17	18,463,882 (GRCm39)	missense	probably benign	0.00
IGL02868:Vmn2r94	APN	17	18,464,316 (GRCm39)	missense	possibly damaging	0.75
IGL03008:Vmn2r94	APN	17	18,477,908 (GRCm39)	missense	probably benign	0.05
R0112:Vmn2r94	UTSW	17	18,463,866 (GRCm39)	missense	probably benign
R0371:Vmn2r94	UTSW	17	18,477,556 (GRCm39)	missense	probably benign	0.11
R0413:Vmn2r94	UTSW	17	18,464,080 (GRCm39)	missense	probably damaging	0.98
R0627:Vmn2r94	UTSW	17	18,477,427 (GRCm39)	missense	probably damaging	1.00
R0737:Vmn2r94	UTSW	17	18,497,695 (GRCm39)	nonsense	probably null
R0815:Vmn2r94	UTSW	17	18,477,973 (GRCm39)	missense	probably damaging	1.00
R0863:Vmn2r94	UTSW	17	18,477,973 (GRCm39)	missense	probably damaging	1.00
R1125:Vmn2r94	UTSW	17	18,477,717 (GRCm39)	missense	probably damaging	1.00
R1276:Vmn2r94	UTSW	17	18,477,344 (GRCm39)	missense	possibly damaging	0.47
R1491:Vmn2r94	UTSW	17	18,477,965 (GRCm39)	missense	probably damaging	1.00
R1500:Vmn2r94	UTSW	17	18,477,242 (GRCm39)	missense	probably benign	0.07
R1610:Vmn2r94	UTSW	17	18,463,995 (GRCm39)	missense	probably damaging	1.00
R1664:Vmn2r94	UTSW	17	18,464,406 (GRCm39)	missense	probably damaging	0.99
R1716:Vmn2r94	UTSW	17	18,477,635 (GRCm39)	missense	probably benign	0.01
R1843:Vmn2r94	UTSW	17	18,464,732 (GRCm39)	missense	probably benign	0.01
R1882:Vmn2r94	UTSW	17	18,464,476 (GRCm39)	missense	probably benign	0.07
R1936:Vmn2r94	UTSW	17	18,464,554 (GRCm39)	nonsense	probably null
R2273:Vmn2r94	UTSW	17	18,477,593 (GRCm39)	missense	probably benign	0.00
R2508:Vmn2r94	UTSW	17	18,477,736 (GRCm39)	missense	probably benign	0.32
R3436:Vmn2r94	UTSW	17	18,478,650 (GRCm39)	splice site	probably benign
R3917:Vmn2r94	UTSW	17	18,464,620 (GRCm39)	missense	probably benign
R3968:Vmn2r94	UTSW	17	18,478,647 (GRCm39)	missense	possibly damaging	0.95
R3969:Vmn2r94	UTSW	17	18,478,647 (GRCm39)	missense	possibly damaging	0.95
R4257:Vmn2r94	UTSW	17	18,464,433 (GRCm39)	missense	probably damaging	1.00
R4271:Vmn2r94	UTSW	17	18,463,940 (GRCm39)	missense	probably damaging	1.00
R4349:Vmn2r94	UTSW	17	18,464,605 (GRCm39)	missense	probably benign	0.01
R4436:Vmn2r94	UTSW	17	18,478,645 (GRCm39)	missense	probably damaging	1.00
R4603:Vmn2r94	UTSW	17	18,477,647 (GRCm39)	missense	probably benign	0.33
R4821:Vmn2r94	UTSW	17	18,477,293 (GRCm39)	missense	probably benign	0.02
R5288:Vmn2r94	UTSW	17	18,464,728 (GRCm39)	missense	probably damaging	1.00
R5725:Vmn2r94	UTSW	17	18,476,489 (GRCm39)	missense	possibly damaging	0.88
R5735:Vmn2r94	UTSW	17	18,464,066 (GRCm39)	missense	probably damaging	1.00
R6066:Vmn2r94	UTSW	17	18,477,695 (GRCm39)	missense	probably damaging	0.99
R6124:Vmn2r94	UTSW	17	18,464,321 (GRCm39)	missense	probably benign	0.01
R6189:Vmn2r94	UTSW	17	18,477,996 (GRCm39)	missense	probably benign	0.25
R6245:Vmn2r94	UTSW	17	18,478,385 (GRCm39)	missense	probably damaging	1.00
R7236:Vmn2r94	UTSW	17	18,477,811 (GRCm39)	missense	possibly damaging	0.49
R7317:Vmn2r94	UTSW	17	18,463,882 (GRCm39)	missense	probably benign	0.00
R7398:Vmn2r94	UTSW	17	18,477,603 (GRCm39)	missense	probably benign	0.00
R7399:Vmn2r94	UTSW	17	18,464,765 (GRCm39)	critical splice acceptor site	probably null
R7478:Vmn2r94	UTSW	17	18,477,767 (GRCm39)	missense	probably benign
R8099:Vmn2r94	UTSW	17	18,477,659 (GRCm39)	missense	probably benign	0.00
R8189:Vmn2r94	UTSW	17	18,478,618 (GRCm39)	missense	probably damaging	1.00
R8217:Vmn2r94	UTSW	17	18,463,986 (GRCm39)	missense	probably damaging	1.00
R8303:Vmn2r94	UTSW	17	18,464,433 (GRCm39)	missense	probably damaging	1.00
R8543:Vmn2r94	UTSW	17	18,463,984 (GRCm39)	missense	possibly damaging	0.45
R8684:Vmn2r94	UTSW	17	18,497,912 (GRCm39)	start gained	probably benign
R8889:Vmn2r94	UTSW	17	18,464,335 (GRCm39)	missense	possibly damaging	0.83
R8892:Vmn2r94	UTSW	17	18,464,335 (GRCm39)	missense	possibly damaging	0.83
R9282:Vmn2r94	UTSW	17	18,497,751 (GRCm39)	missense	possibly damaging	0.89
R9526:Vmn2r94	UTSW	17	18,477,261 (GRCm39)	missense	probably benign
R9647:Vmn2r94	UTSW	17	18,463,884 (GRCm39)	missense	probably benign	0.00
R9748:Vmn2r94	UTSW	17	18,463,989 (GRCm39)	missense	probably benign	0.21
R9789:Vmn2r94	UTSW	17	18,464,038 (GRCm39)	missense	probably damaging	1.00
RF014:Vmn2r94	UTSW	17	18,473,549 (GRCm39)	nonsense	probably null
X0011:Vmn2r94	UTSW	17	18,464,710 (GRCm39)	missense	possibly damaging	0.76
X0028:Vmn2r94	UTSW	17	18,464,237 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAAGTGTAATGGAACTTGAGTC -3'
(R):5'- GAACACTCAGGTTTTCACTTAGACATC -3'

Sequencing Primer
(F):5'- CCTCTGAAAATATTTCTGGCC -3'
(R):5'- CTTGGGCACAATGTAGGA -3'

Posted On

2018-06-22