Mutagenetix > Incidental Mutation

Incidental Mutation 'R0720:Vmn2r99'

63531

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r99

Ensembl Gene

ENSMUSG00000090304

Gene Name

vomeronasal 2, receptor 99

Synonyms

EG665376

MMRRC Submission

038902-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R0720 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19361949-19401098 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19379043 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 330 (F330I)

Ref Sequence

ENSEMBL: ENSMUSP00000156067 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000176107] [ENSMUST00000231989]

AlphaFold

H3BK37

Predicted Effect

probably benign
Transcript: ENSMUST00000176107
AA Change: F330I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000135236
Gene: ENSMUSG00000090304
AA Change: F330I

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:ANF_receptor	81	448	5.7e-33	PFAM
Pfam:NCD3G	508	561	1.8e-21	PFAM
Pfam:7tm_3	593	829	4.6e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231989
AA Change: F330I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 95.9%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf2	A	G	17: 42,713,172	I136T	probably damaging	Het
Bbs7	T	C	3: 36,592,423	D416G	probably damaging	Het
Commd4	G	T	9: 57,155,434	D179E	probably benign	Het
Cyp3a57	T	C	5: 145,390,403		probably benign	Het
Dnah5	A	G	15: 28,313,861	N1941S	probably null	Het
Dynap	T	C	18: 70,240,984	D157G	unknown	Het
Eri3	T	C	4: 117,553,045		probably null	Het
Fam189a1	A	G	7: 64,819,910		probably benign	Het
Fbxo25	A	G	8: 13,935,222	Y305C	probably damaging	Het
Flt4	C	T	11: 49,636,339		probably benign	Het
Fxr2	A	G	11: 69,639,415	D36G	probably benign	Het
Gas2l3	T	C	10: 89,413,943	T438A	probably benign	Het
Gcm1	A	T	9: 78,064,641	Y288F	possibly damaging	Het
Gm3164	C	A	14: 4,442,719	S218R	probably benign	Het
Hipk2	C	T	6: 38,698,556	R1029H	probably damaging	Het
Htra3	T	C	5: 35,654,109	I392M	probably damaging	Het
Kansl1l	T	C	1: 66,801,356	M262V	possibly damaging	Het
Lrrc47	T	C	4: 154,019,887		probably null	Het
Macf1	A	T	4: 123,432,925	N4926K	probably damaging	Het
Mllt10	T	C	2: 18,196,595	S631P	probably benign	Het
Nlrp14	A	G	7: 107,182,013	H139R	probably benign	Het
Olfr1153	A	T	2: 87,896,669	T157S	probably benign	Het
Olfr394	T	A	11: 73,887,862	N170I	probably benign	Het
Ptger2	T	C	14: 44,989,133	C57R	probably benign	Het
Rhot1	T	C	11: 80,223,943	V59A	probably damaging	Het
Rmdn2	G	A	17: 79,668,029		probably null	Het
Rxfp2	G	T	5: 150,044,119	K148N	probably benign	Het
Sec23a	G	A	12: 58,971,271	T623M	probably damaging	Het
Smcr8	T	C	11: 60,778,443	L139P	probably damaging	Het
Spag6l	A	T	16: 16,767,096		probably benign	Het
Taar1	T	C	10: 23,921,073	I223T	probably damaging	Het
Tdo2	G	T	3: 81,962,758	A269E	probably damaging	Het
Tnfsf18	A	G	1: 161,503,587	Y102C	possibly damaging	Het
Tns1	A	G	1: 73,925,581	L1297P	probably benign	Het
Txndc8	C	T	4: 57,984,245		probably benign	Het
Ubr5	T	C	15: 37,972,991	N2622S	probably damaging	Het
Zdhhc2	T	A	8: 40,472,907		probably null	Het

Other mutations in Vmn2r99

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Vmn2r99	APN	17	19378854	missense	probably benign	0.01
IGL01113:Vmn2r99	APN	17	19394256	missense	probably benign	0.20
IGL01138:Vmn2r99	APN	17	19382623	missense	probably damaging	0.97
IGL01646:Vmn2r99	APN	17	19393658	splice site	probably benign
IGL01769:Vmn2r99	APN	17	19380115	missense	probably damaging	1.00
IGL02112:Vmn2r99	APN	17	19380232	missense	probably null	0.99
IGL02891:Vmn2r99	APN	17	19378690	nonsense	probably null
IGL03132:Vmn2r99	APN	17	19378223	nonsense	probably null
FR4548:Vmn2r99	UTSW	17	19394285	missense	probably damaging	0.97
FR4976:Vmn2r99	UTSW	17	19394285	missense	probably damaging	0.97
PIT4382001:Vmn2r99	UTSW	17	19394343	missense	probably damaging	1.00
R0196:Vmn2r99	UTSW	17	19394573	missense	probably benign	0.00
R1501:Vmn2r99	UTSW	17	19362259	missense	possibly damaging	0.93
R1519:Vmn2r99	UTSW	17	19380060	missense	probably benign	0.00
R1670:Vmn2r99	UTSW	17	19362252	missense	probably benign	0.37
R1682:Vmn2r99	UTSW	17	19377945	missense	probably damaging	0.97
R1873:Vmn2r99	UTSW	17	19362153	missense	probably benign	0.25
R1967:Vmn2r99	UTSW	17	19378815	missense	probably benign	0.01
R2101:Vmn2r99	UTSW	17	19377991	missense	probably damaging	1.00
R2474:Vmn2r99	UTSW	17	19378629	missense	probably benign	0.04
R2519:Vmn2r99	UTSW	17	19378708	missense	probably damaging	0.99
R3911:Vmn2r99	UTSW	17	19394373	missense	possibly damaging	0.92
R3947:Vmn2r99	UTSW	17	19378990	missense	probably benign	0.40
R3949:Vmn2r99	UTSW	17	19378990	missense	probably benign	0.40
R4016:Vmn2r99	UTSW	17	19378570	missense	possibly damaging	0.86
R4413:Vmn2r99	UTSW	17	19379260	missense	probably damaging	1.00
R4594:Vmn2r99	UTSW	17	19393662	missense	probably damaging	1.00
R4999:Vmn2r99	UTSW	17	19362135	start codon destroyed	probably null	0.96
R5206:Vmn2r99	UTSW	17	19378606	missense	probably benign	0.40
R5362:Vmn2r99	UTSW	17	19379339	missense	probably benign	0.00
R5377:Vmn2r99	UTSW	17	19379269	missense	probably damaging	1.00
R5455:Vmn2r99	UTSW	17	19394146	nonsense	probably null
R6021:Vmn2r99	UTSW	17	19377948	missense	probably damaging	1.00
R6059:Vmn2r99	UTSW	17	19378980	missense	probably benign	0.00
R6214:Vmn2r99	UTSW	17	19382558	missense	probably benign	0.19
R6215:Vmn2r99	UTSW	17	19382558	missense	probably benign	0.19
R6313:Vmn2r99	UTSW	17	19382605	missense	probably damaging	1.00
R6646:Vmn2r99	UTSW	17	19380031	missense	probably damaging	1.00
R6810:Vmn2r99	UTSW	17	19380034	missense	probably benign	0.20
R6885:Vmn2r99	UTSW	17	19380195	missense	possibly damaging	0.52
R6991:Vmn2r99	UTSW	17	19378110	missense	probably benign	0.03
R7060:Vmn2r99	UTSW	17	19394564	nonsense	probably null
R7090:Vmn2r99	UTSW	17	19393710	missense	possibly damaging	0.83
R7094:Vmn2r99	UTSW	17	19379311	missense	probably benign	0.00
R7449:Vmn2r99	UTSW	17	19379145	missense	probably benign	0.01
R7789:Vmn2r99	UTSW	17	19393817	missense	possibly damaging	0.91
R8039:Vmn2r99	UTSW	17	19380040	missense	probably benign	0.00
R8493:Vmn2r99	UTSW	17	19393758	missense	probably benign	0.15
R8511:Vmn2r99	UTSW	17	19394181	missense	probably damaging	1.00
R8715:Vmn2r99	UTSW	17	19393660	critical splice acceptor site	probably benign
R9462:Vmn2r99	UTSW	17	19378126	nonsense	probably null
Z1088:Vmn2r99	UTSW	17	19379301	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- CGCCACATGGACTTCATATTTTGCC -3'
(R):5'- GTTGTTGCAAATCCCTCATGCCAG -3'

Sequencing Primer
(F):5'- TGCCAAATTCTGGGAAAATATGG -3'
(R):5'- GCTGAATTCTCATCTCATGGAGAC -3'

Posted On

2013-07-30