Mutagenetix > Incidental Mutation

Incidental Mutation 'R6404:Vmn2r96'

518917

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r96

Ensembl Gene

ENSMUSG00000091679

Gene Name

vomeronasal 2, receptor 96

Synonyms

EG433070

MMRRC Submission

044549-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R6404 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18793282-18818419 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18817793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 457 (I457F)

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: I457F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131564
Gene: ENSMUSG00000091679
AA Change: I457F

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

probably damaging
Transcript: ENSMUST00000177244
AA Change: I649F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000135095
Gene: ENSMUSG00000091679
AA Change: I649F

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

probably benign
Transcript: ENSMUST00000231261

Predicted Effect

probably damaging
Transcript: ENSMUST00000231286
AA Change: I649F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.4%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,484,892 (GRCm39)	D1540G	probably benign	Het
Adamts7	A	T	9: 90,062,509 (GRCm39)		probably null	Het
Apol10a	C	A	15: 77,373,241 (GRCm39)	F292L	probably benign	Het
Atp13a4	A	T	16: 29,290,719 (GRCm39)	Y243*	probably null	Het
Cc2d2a	A	G	5: 43,861,416 (GRCm39)	N660D	possibly damaging	Het
Ccdc57	T	C	11: 120,785,538 (GRCm39)	T466A	probably benign	Het
Ccdc74a	A	T	16: 17,467,889 (GRCm39)	N249Y	possibly damaging	Het
Cd3e	T	A	9: 44,912,426 (GRCm39)	E106V	probably damaging	Het
Col4a1	G	T	8: 11,257,409 (GRCm39)		probably null	Het
Csmd2	T	C	4: 128,415,743 (GRCm39)	Y2691H	possibly damaging	Het
Dmxl2	T	C	9: 54,282,820 (GRCm39)	R2786G	probably damaging	Het
Dpyd	A	G	3: 119,059,606 (GRCm39)	T768A	probably benign	Het
Endou	T	A	15: 97,610,012 (GRCm39)	Q428L	probably damaging	Het
Fam13c	T	C	10: 70,284,646 (GRCm39)		probably null	Het
Fhip1b	G	A	7: 105,034,198 (GRCm39)	R478*	probably null	Het
Frmd5	G	A	2: 121,379,699 (GRCm39)	R70*	probably null	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Gm4131	T	A	14: 62,718,598 (GRCm39)	R3*	probably null	Het
Habp4	A	G	13: 64,330,000 (GRCm39)	T302A	possibly damaging	Het
Ift81	A	T	5: 122,749,069 (GRCm39)	D27E	probably damaging	Het
Iqcf3	T	C	9: 106,430,083 (GRCm39)	I107V	probably benign	Het
Iqgap2	A	G	13: 95,865,985 (GRCm39)	I298T	probably benign	Het
Lilrb4b	A	G	10: 51,361,825 (GRCm39)	D199G	probably damaging	Het
Lsm8	C	T	6: 18,848,739 (GRCm39)	S3F	possibly damaging	Het
Meox1	T	C	11: 101,769,482 (GRCm39)	E238G	probably benign	Het
Naip1	A	T	13: 100,559,727 (GRCm39)	D1092E	probably benign	Het
Neb	T	C	2: 52,097,737 (GRCm39)	Y901C	probably damaging	Het
Nfat5	A	G	8: 108,097,220 (GRCm39)	M121V	probably benign	Het
Notch2	G	A	3: 97,989,314 (GRCm39)	G278D	probably damaging	Het
Or4c121	T	C	2: 89,023,906 (GRCm39)	I157M	probably damaging	Het
Pbld2	T	A	10: 62,890,107 (GRCm39)	S172T	probably damaging	Het
Pla2g7	T	A	17: 43,905,688 (GRCm39)	Y83N	probably damaging	Het
Plxnb1	A	T	9: 108,945,705 (GRCm39)	I2079F	probably damaging	Het
Rara	T	C	11: 98,851,839 (GRCm39)	F17L	probably benign	Het
Skint5	G	A	4: 113,799,806 (GRCm39)	T121I	probably damaging	Het
Slco6c1	T	C	1: 97,046,330 (GRCm39)	Y251C	probably damaging	Het
Slmap	T	A	14: 26,143,566 (GRCm39)		probably null	Het
Uba2	A	T	7: 33,853,985 (GRCm39)	L319Q	probably damaging	Het
Zfp57	A	T	17: 37,320,716 (GRCm39)	H190L	probably damaging	Het
Zfp738	A	G	13: 67,819,179 (GRCm39)	S271P	possibly damaging	Het
Zp2	A	T	7: 119,734,765 (GRCm39)	H474Q	possibly damaging	Het

Other mutations in Vmn2r96

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00562:Vmn2r96	APN	17	18,804,077 (GRCm39)	missense	probably benign	0.00
IGL00563:Vmn2r96	APN	17	18,804,077 (GRCm39)	missense	probably benign	0.00
IGL00769:Vmn2r96	APN	17	18,804,081 (GRCm39)	missense	probably benign	0.00
IGL01314:Vmn2r96	APN	17	18,803,226 (GRCm39)	missense	probably benign	0.00
IGL01983:Vmn2r96	APN	17	18,817,527 (GRCm39)	missense	probably damaging	0.99
IGL02314:Vmn2r96	APN	17	18,804,221 (GRCm39)	missense	probably benign	0.01
IGL02600:Vmn2r96	APN	17	18,817,829 (GRCm39)	missense	probably benign
IGL02672:Vmn2r96	APN	17	18,818,376 (GRCm39)	missense	probably benign	0.02
IGL02750:Vmn2r96	APN	17	18,802,851 (GRCm39)	missense	probably benign	0.01
IGL03068:Vmn2r96	APN	17	18,803,137 (GRCm39)	missense	probably benign	0.00
IGL03411:Vmn2r96	APN	17	18,806,634 (GRCm39)	missense	possibly damaging	0.88
R0316:Vmn2r96	UTSW	17	18,802,827 (GRCm39)	missense	probably damaging	1.00
R0502:Vmn2r96	UTSW	17	18,804,262 (GRCm39)	missense	probably benign
R0580:Vmn2r96	UTSW	17	18,802,900 (GRCm39)	missense	probably damaging	1.00
R0652:Vmn2r96	UTSW	17	18,817,830 (GRCm39)	missense	probably benign	0.05
R0789:Vmn2r96	UTSW	17	18,802,738 (GRCm39)	missense	possibly damaging	0.81
R1462:Vmn2r96	UTSW	17	18,817,660 (GRCm39)	missense	possibly damaging	0.94
R1462:Vmn2r96	UTSW	17	18,817,660 (GRCm39)	missense	possibly damaging	0.94
R1660:Vmn2r96	UTSW	17	18,817,988 (GRCm39)	missense	probably benign	0.00
R1755:Vmn2r96	UTSW	17	18,802,915 (GRCm39)	missense	possibly damaging	0.50
R1843:Vmn2r96	UTSW	17	18,818,183 (GRCm39)	missense	probably benign	0.14
R1943:Vmn2r96	UTSW	17	18,806,664 (GRCm39)	missense	probably benign	0.09
R1993:Vmn2r96	UTSW	17	18,804,138 (GRCm39)	missense	probably damaging	1.00
R2018:Vmn2r96	UTSW	17	18,804,263 (GRCm39)	missense	probably benign
R2405:Vmn2r96	UTSW	17	18,818,102 (GRCm39)	missense	probably damaging	0.96
R3977:Vmn2r96	UTSW	17	18,817,941 (GRCm39)	missense	probably damaging	1.00
R3979:Vmn2r96	UTSW	17	18,817,941 (GRCm39)	missense	probably damaging	1.00
R4059:Vmn2r96	UTSW	17	18,818,339 (GRCm39)	missense	probably benign	0.20
R4693:Vmn2r96	UTSW	17	18,803,270 (GRCm39)	missense	probably benign	0.03
R4709:Vmn2r96	UTSW	17	18,803,088 (GRCm39)	missense	probably benign	0.36
R4776:Vmn2r96	UTSW	17	18,817,770 (GRCm39)	missense	probably damaging	1.00
R4882:Vmn2r96	UTSW	17	18,817,866 (GRCm39)	missense	probably damaging	1.00
R4920:Vmn2r96	UTSW	17	18,802,918 (GRCm39)	missense	probably benign	0.07
R5143:Vmn2r96	UTSW	17	18,804,120 (GRCm39)	missense	possibly damaging	0.65
R5301:Vmn2r96	UTSW	17	18,817,950 (GRCm39)	missense	probably damaging	0.98
R5507:Vmn2r96	UTSW	17	18,818,091 (GRCm39)	missense	probably damaging	1.00
R6151:Vmn2r96	UTSW	17	18,804,221 (GRCm39)	missense	probably benign	0.01
R6181:Vmn2r96	UTSW	17	18,804,126 (GRCm39)	missense	probably benign
R6339:Vmn2r96	UTSW	17	18,804,124 (GRCm39)	missense	possibly damaging	0.84
R6452:Vmn2r96	UTSW	17	18,804,117 (GRCm39)	missense	probably benign	0.07
R6749:Vmn2r96	UTSW	17	18,818,352 (GRCm39)	missense	probably damaging	0.99
R6813:Vmn2r96	UTSW	17	18,802,116 (GRCm39)	missense	probably benign	0.04
R6851:Vmn2r96	UTSW	17	18,802,800 (GRCm39)	missense	possibly damaging	0.95
R6944:Vmn2r96	UTSW	17	18,817,891 (GRCm39)	missense	probably benign	0.16
R6949:Vmn2r96	UTSW	17	18,818,100 (GRCm39)	missense	probably damaging	1.00
R6962:Vmn2r96	UTSW	17	18,818,283 (GRCm39)	missense	probably damaging	0.99
R6990:Vmn2r96	UTSW	17	18,804,082 (GRCm39)	missense	probably benign
R7149:Vmn2r96	UTSW	17	18,817,989 (GRCm39)	missense	possibly damaging	0.89
R7346:Vmn2r96	UTSW	17	18,803,029 (GRCm39)	missense	probably benign	0.15
R7385:Vmn2r96	UTSW	17	18,803,302 (GRCm39)	missense	probably damaging	1.00
R7442:Vmn2r96	UTSW	17	18,793,662 (GRCm39)	missense	probably benign	0.02
R7509:Vmn2r96	UTSW	17	18,802,995 (GRCm39)	missense	probably benign	0.02
R7652:Vmn2r96	UTSW	17	18,793,832 (GRCm39)	missense	probably benign
R7659:Vmn2r96	UTSW	17	18,793,749 (GRCm39)	missense	probably benign	0.00
R7753:Vmn2r96	UTSW	17	18,806,663 (GRCm39)	missense	possibly damaging	0.46
R7855:Vmn2r96	UTSW	17	18,818,130 (GRCm39)	missense	possibly damaging	0.59
R8166:Vmn2r96	UTSW	17	18,802,744 (GRCm39)	missense	probably damaging	1.00
R8260:Vmn2r96	UTSW	17	18,804,243 (GRCm39)	missense	probably benign	0.04
R8323:Vmn2r96	UTSW	17	18,803,023 (GRCm39)	missense	probably damaging	0.99
R8787:Vmn2r96	UTSW	17	18,818,250 (GRCm39)	missense	probably damaging	1.00
R8837:Vmn2r96	UTSW	17	18,802,888 (GRCm39)	missense	probably benign
R8933:Vmn2r96	UTSW	17	18,804,241 (GRCm39)	missense	probably benign	0.11
R9306:Vmn2r96	UTSW	17	18,803,226 (GRCm39)	missense	probably benign	0.00
R9481:Vmn2r96	UTSW	17	18,793,621 (GRCm39)	start gained	probably benign
R9626:Vmn2r96	UTSW	17	18,793,758 (GRCm39)	missense	probably benign	0.14
R9629:Vmn2r96	UTSW	17	18,803,257 (GRCm39)	missense	probably benign	0.15
Z1088:Vmn2r96	UTSW	17	18,817,628 (GRCm39)	missense	possibly damaging	0.86
Z1177:Vmn2r96	UTSW	17	18,818,376 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGAAGACACCTTGGGGATGG -3'
(R):5'- GATGTTGCCATCCATATTCCAC -3'

Sequencing Primer
(F):5'- ACACCTTGGGGATGGCATTAGC -3'
(R):5'- TTCCACAAATAAGAAGTTGGATCAGG -3'

Posted On

2018-05-24