Mutagenetix > Incidental Mutation

Incidental Mutation 'R6749:Vmn2r96'

532911

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r96

Ensembl Gene

ENSMUSG00000091679

Gene Name

vomeronasal 2, receptor 96

Synonyms

EG433070

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R6749 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18573151-18616003 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 18598090 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 643 (P643L)

Ref Sequence

ENSEMBL: ENSMUSP00000131564 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165692] [ENSMUST00000177244] [ENSMUST00000231261] [ENSMUST00000231286]

AlphaFold

E9PZU5

Predicted Effect

probably damaging
Transcript: ENSMUST00000165692
AA Change: P643L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131564
Gene: ENSMUSG00000091679
AA Change: P643L

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	1	257	8.6e-20	PFAM
Pfam:NCD3G	317	370	3.7e-22	PFAM
Pfam:7tm_3	402	638	3.9e-53	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177244
AA Change: P835L

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135095
Gene: ENSMUSG00000091679
AA Change: P835L

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	1	245	4.2e-19	PFAM
Pfam:NCD3G	317	370	6.9e-21	PFAM
Pfam:7tm_3	400	639	3.4e-75	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231261

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231286
AA Change: P835L

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 120,010,774	V875A	possibly damaging	Het
Arhgef15	A	T	11: 68,954,557	F156L	probably damaging	Het
Bdh2	T	A	3: 135,300,691	S184T	probably damaging	Het
Bmp5	A	T	9: 75,776,093	M1L	probably benign	Het
Cacfd1	T	C	2: 27,018,455	Y134H	probably damaging	Het
Camk1	G	A	6: 113,334,525	P340L	probably benign	Het
Ccdc105	A	C	10: 78,752,838	M46R	possibly damaging	Het
Cdc14a	T	C	3: 116,297,158	H424R	possibly damaging	Het
Cntfr	T	A	4: 41,663,232	T192S	possibly damaging	Het
Erbin	G	T	13: 103,834,377	S910R	probably damaging	Het
Esrp1	A	T	4: 11,357,519	V366E	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fsip2	T	A	2: 82,978,394	S1686T	possibly damaging	Het
Gata5	A	G	2: 180,334,350	L7S	probably damaging	Het
Hgf	T	A	5: 16,613,642		probably null	Het
Ift140	A	G	17: 25,098,916	E1458G	probably damaging	Het
Ift57	G	A	16: 49,760,984	G209R	probably benign	Het
Il12rb2	G	T	6: 67,361,966		probably benign	Het
Krt78	G	A	15: 101,950,923	R280C	probably damaging	Het
Lipc	A	G	9: 70,823,386	I88T	probably damaging	Het
Lrmda	G	T	14: 22,027,276	R27L	probably benign	Het
Lrrc37a	T	G	11: 103,502,097	E834A	probably benign	Het
Mmachc	C	A	4: 116,704,541	R132L	probably damaging	Het
Myo10	T	C	15: 25,714,110	Y88H	probably damaging	Het
Myo5b	G	A	18: 74,701,503	R878Q	possibly damaging	Het
Olfr1392	A	G	11: 49,294,050	H243R	probably damaging	Het
Padi3	T	C	4: 140,795,853	T289A	possibly damaging	Het
Pcdhgb4	G	T	18: 37,721,229	A226S	possibly damaging	Het
Pde4c	T	C	8: 70,746,010	V167A	probably damaging	Het
Pigr	A	G	1: 130,846,548	T422A	probably benign	Het
Pmp2	T	C	3: 10,182,482	Y49C	probably benign	Het
Prpf39	A	G	12: 65,056,274	I441V	possibly damaging	Het
Ptprs	A	G	17: 56,437,884	V284A	probably damaging	Het
Rsad1	T	C	11: 94,543,340	E354G	probably damaging	Het
Sema4b	T	A	7: 80,220,201	D412E	possibly damaging	Het
Siglecg	A	G	7: 43,408,979	I97V	probably benign	Het
Slc4a3	C	T	1: 75,554,538	R792*	probably null	Het
Slc6a20a	A	G	9: 123,637,070	C569R	probably damaging	Het
Spata19	T	C	9: 27,397,980	V59A	probably benign	Het
Sult2a3	T	A	7: 14,082,704	Y183F	probably benign	Het
Tedc1	C	T	12: 113,158,082	T194M	probably damaging	Het
Tmem63c	T	A	12: 87,075,665	N412K	probably damaging	Het
Trav5-1	T	C	14: 52,622,945	I69T	possibly damaging	Het
Trim68	T	C	7: 102,678,783	D321G	probably damaging	Het
Ttn	T	C	2: 76,865,256		probably benign	Het
Vars2	A	G	17: 35,666,713	V109A	probably damaging	Het
Zfpm2	G	T	15: 40,954,708	V146F	possibly damaging	Het
Znfx1	T	C	2: 167,056,599	K135R	probably benign	Het

Other mutations in Vmn2r96

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00562:Vmn2r96	APN	17	18583815	missense	probably benign	0.00
IGL00563:Vmn2r96	APN	17	18583815	missense	probably benign	0.00
IGL00769:Vmn2r96	APN	17	18583819	missense	probably benign	0.00
IGL01314:Vmn2r96	APN	17	18582964	missense	probably benign	0.00
IGL01983:Vmn2r96	APN	17	18597265	missense	probably damaging	0.99
IGL02314:Vmn2r96	APN	17	18583959	missense	probably benign	0.01
IGL02600:Vmn2r96	APN	17	18597567	missense	probably benign
IGL02672:Vmn2r96	APN	17	18598114	missense	probably benign	0.02
IGL02750:Vmn2r96	APN	17	18582589	missense	probably benign	0.01
IGL03068:Vmn2r96	APN	17	18582875	missense	probably benign	0.00
IGL03411:Vmn2r96	APN	17	18586372	missense	possibly damaging	0.88
R0316:Vmn2r96	UTSW	17	18582565	missense	probably damaging	1.00
R0502:Vmn2r96	UTSW	17	18584000	missense	probably benign
R0580:Vmn2r96	UTSW	17	18582638	missense	probably damaging	1.00
R0652:Vmn2r96	UTSW	17	18597568	missense	probably benign	0.05
R0789:Vmn2r96	UTSW	17	18582476	missense	possibly damaging	0.81
R1462:Vmn2r96	UTSW	17	18597398	missense	possibly damaging	0.94
R1462:Vmn2r96	UTSW	17	18597398	missense	possibly damaging	0.94
R1660:Vmn2r96	UTSW	17	18597726	missense	probably benign	0.00
R1755:Vmn2r96	UTSW	17	18582653	missense	possibly damaging	0.50
R1843:Vmn2r96	UTSW	17	18597921	missense	probably benign	0.14
R1943:Vmn2r96	UTSW	17	18586402	missense	probably benign	0.09
R1993:Vmn2r96	UTSW	17	18583876	missense	probably damaging	1.00
R2018:Vmn2r96	UTSW	17	18584001	missense	probably benign
R2405:Vmn2r96	UTSW	17	18597840	missense	probably damaging	0.96
R3977:Vmn2r96	UTSW	17	18597679	missense	probably damaging	1.00
R3979:Vmn2r96	UTSW	17	18597679	missense	probably damaging	1.00
R4059:Vmn2r96	UTSW	17	18598077	missense	probably benign	0.20
R4693:Vmn2r96	UTSW	17	18583008	missense	probably benign	0.03
R4709:Vmn2r96	UTSW	17	18582826	missense	probably benign	0.36
R4776:Vmn2r96	UTSW	17	18597508	missense	probably damaging	1.00
R4882:Vmn2r96	UTSW	17	18597604	missense	probably damaging	1.00
R4920:Vmn2r96	UTSW	17	18582656	missense	probably benign	0.07
R5143:Vmn2r96	UTSW	17	18583858	missense	possibly damaging	0.65
R5301:Vmn2r96	UTSW	17	18597688	missense	probably damaging	0.98
R5507:Vmn2r96	UTSW	17	18597829	missense	probably damaging	1.00
R6151:Vmn2r96	UTSW	17	18583959	missense	probably benign	0.01
R6181:Vmn2r96	UTSW	17	18583864	missense	probably benign
R6339:Vmn2r96	UTSW	17	18583862	missense	possibly damaging	0.84
R6404:Vmn2r96	UTSW	17	18597531	missense	probably damaging	1.00
R6452:Vmn2r96	UTSW	17	18583855	missense	probably benign	0.07
R6813:Vmn2r96	UTSW	17	18581854	missense	probably benign	0.04
R6851:Vmn2r96	UTSW	17	18582538	missense	possibly damaging	0.95
R6944:Vmn2r96	UTSW	17	18597629	missense	probably benign	0.16
R6949:Vmn2r96	UTSW	17	18597838	missense	probably damaging	1.00
R6962:Vmn2r96	UTSW	17	18598021	missense	probably damaging	0.99
R6990:Vmn2r96	UTSW	17	18583820	missense	probably benign
R7149:Vmn2r96	UTSW	17	18597727	missense	possibly damaging	0.89
R7346:Vmn2r96	UTSW	17	18582767	missense	probably benign	0.15
R7385:Vmn2r96	UTSW	17	18583040	missense	probably damaging	1.00
R7442:Vmn2r96	UTSW	17	18573400	missense	probably benign	0.02
R7509:Vmn2r96	UTSW	17	18582733	missense	probably benign	0.02
R7652:Vmn2r96	UTSW	17	18573570	missense	probably benign
R7659:Vmn2r96	UTSW	17	18573487	missense	probably benign	0.00
R7753:Vmn2r96	UTSW	17	18586401	missense	possibly damaging	0.46
R7855:Vmn2r96	UTSW	17	18597868	missense	possibly damaging	0.59
R8166:Vmn2r96	UTSW	17	18582482	missense	probably damaging	1.00
R8260:Vmn2r96	UTSW	17	18583981	missense	probably benign	0.04
R8323:Vmn2r96	UTSW	17	18582761	missense	probably damaging	0.99
R8787:Vmn2r96	UTSW	17	18597988	missense	probably damaging	1.00
R8837:Vmn2r96	UTSW	17	18582626	missense	probably benign
R8933:Vmn2r96	UTSW	17	18583979	missense	probably benign	0.11
R9306:Vmn2r96	UTSW	17	18582964	missense	probably benign	0.00
R9481:Vmn2r96	UTSW	17	18573359	start gained	probably benign
R9626:Vmn2r96	UTSW	17	18573496	missense	probably benign	0.14
R9629:Vmn2r96	UTSW	17	18582995	missense	probably benign	0.15
Z1088:Vmn2r96	UTSW	17	18597366	missense	possibly damaging	0.86
Z1177:Vmn2r96	UTSW	17	18598114	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ATGCTATGGCCTTCTTGTCTAG -3'
(R):5'- TAGGAATGGAGCCATCAGGTC -3'

Sequencing Primer
(F):5'- GGCCTTCTTGTCTAGAAATTTGCCAG -3'
(R):5'- GGAGCCATCAGGTCTTATACTCAG -3'

Posted On

2018-08-29