Mutagenetix > Incidental Mutation

Incidental Mutation 'R4527:Vmn2r70'

334482

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r70

Ensembl Gene

ENSMUSG00000090806

Gene Name

vomeronasal 2, receptor 70

Synonyms

EG620835

MMRRC Submission

041768-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R4527 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85558703-85569088 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85559579 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 563 (N563K)

Ref Sequence

ENSEMBL: ENSMUSP00000129703 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168230]

AlphaFold

K7N702

Predicted Effect

probably damaging
Transcript: ENSMUST00000168230
AA Change: N563K

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

SMART Domains

Protein: ENSMUSP00000129703
Gene: ENSMUSG00000090806
AA Change: N563K

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:ANF_receptor	77	468	2.5e-28	PFAM
Pfam:NCD3G	510	562	1.5e-19	PFAM
Pfam:7tm_3	592	830	1.2e-52	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agfg2	A	G	5: 137,684,536	V15A	unknown	Het
Asb3	A	G	11: 31,058,933	D278G	probably benign	Het
Atrn	T	C	2: 130,973,504	I780T	probably benign	Het
Car2	C	T	3: 14,898,005	P200L	probably damaging	Het
Cars	A	T	7: 143,565,049	M668K	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cer1	A	G	4: 82,884,669	F139L	possibly damaging	Het
Crhr2	T	A	6: 55,132,853		probably benign	Het
Dnah7c	G	A	1: 46,532,931	E855K	probably benign	Het
Espn	C	T	4: 152,135,649	R339Q	probably damaging	Het
Flt3	T	A	5: 147,356,353	E481V	probably benign	Het
Gorab	T	G	1: 163,397,136	K32T	possibly damaging	Het
Mak16	G	A	8: 31,166,177	Q93*	probably null	Het
Muc4	T	C	16: 32,755,843		probably benign	Het
Neb	A	T	2: 52,193,237	I5409N	probably benign	Het
Olfm4	C	T	14: 80,021,224	S304F	probably benign	Het
Pask	A	G	1: 93,320,502	F1026L	probably benign	Het
Rab11a	A	G	9: 64,725,568	S19P	probably benign	Het
Rab11fip3	T	C	17: 26,036,657	D541G	probably damaging	Het
Rnf10	T	C	5: 115,260,151	S108G	probably damaging	Het
Rps4l-ps	C	T	7: 114,927,168		noncoding transcript	Het
Shank1	A	T	7: 44,354,590	H1902L	possibly damaging	Het
Slc8a3	T	C	12: 81,315,853	Y64C	probably damaging	Het
Sorbs3	A	C	14: 70,207,617	I4S	probably damaging	Het
St18	A	G	1: 6,855,423	N935S	probably damaging	Het
Taf4b	T	C	18: 14,821,442	V525A	probably damaging	Het
Timm10b	A	G	7: 105,682,806	N828S	probably benign	Het
Ttyh1	A	T	7: 4,119,764	D4V	probably damaging	Het
Usp34	T	A	11: 23,421,257	L53Q	possibly damaging	Het
Usp5	C	G	6: 124,822,630	K318N	possibly damaging	Het
Xrcc5	C	A	1: 72,312,500	N76K	probably damaging	Het
Zscan25	T	C	5: 145,283,458	V21A	probably damaging	Het

Other mutations in Vmn2r70

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00978:Vmn2r70	APN	7	85563799	missense	probably benign	0.00
IGL01140:Vmn2r70	APN	7	85565171	nonsense	probably null
IGL01287:Vmn2r70	APN	7	85569019	nonsense	probably null
IGL01581:Vmn2r70	APN	7	85563914	splice site	probably null
IGL01632:Vmn2r70	APN	7	85566072	missense	probably benign	0.00
IGL01725:Vmn2r70	APN	7	85559386	missense	probably damaging	1.00
IGL02244:Vmn2r70	APN	7	85565003	missense	probably benign
IGL02288:Vmn2r70	APN	7	85565134	missense	probably benign	0.31
IGL02313:Vmn2r70	APN	7	85565168	missense	probably damaging	0.99
IGL02591:Vmn2r70	APN	7	85564945	missense	probably damaging	0.96
IGL02725:Vmn2r70	APN	7	85565345	missense	possibly damaging	0.46
IGL02797:Vmn2r70	APN	7	85559087	missense	probably benign	0.00
R0045:Vmn2r70	UTSW	7	85566044	missense	probably damaging	1.00
R0729:Vmn2r70	UTSW	7	85565904	missense	probably benign	0.00
R0967:Vmn2r70	UTSW	7	85559619	missense	probably damaging	0.99
R1217:Vmn2r70	UTSW	7	85559061	missense	probably damaging	1.00
R1351:Vmn2r70	UTSW	7	85565054	missense	probably damaging	1.00
R1387:Vmn2r70	UTSW	7	85558761	missense	probably benign	0.12
R1483:Vmn2r70	UTSW	7	85559167	missense	probably benign	0.04
R1796:Vmn2r70	UTSW	7	85563803	nonsense	probably null
R1809:Vmn2r70	UTSW	7	85565922	missense	probably benign	0.23
R2154:Vmn2r70	UTSW	7	85563715	missense	possibly damaging	0.67
R2173:Vmn2r70	UTSW	7	85565082	missense	probably benign
R2334:Vmn2r70	UTSW	7	85559592	missense	probably benign	0.05
R2871:Vmn2r70	UTSW	7	85559019	missense	probably damaging	1.00
R2871:Vmn2r70	UTSW	7	85559019	missense	probably damaging	1.00
R3975:Vmn2r70	UTSW	7	85559332	missense	probably benign	0.00
R4525:Vmn2r70	UTSW	7	85559579	missense	probably damaging	1.00
R4535:Vmn2r70	UTSW	7	85565333	missense	probably damaging	1.00
R5181:Vmn2r70	UTSW	7	85559179	missense	probably damaging	0.99
R5600:Vmn2r70	UTSW	7	85563727	missense	probably benign	0.07
R5641:Vmn2r70	UTSW	7	85559364	missense	probably damaging	0.99
R5726:Vmn2r70	UTSW	7	85559107	missense	probably damaging	1.00
R5943:Vmn2r70	UTSW	7	85565991	missense	probably benign	0.09
R6166:Vmn2r70	UTSW	7	85565981	missense	probably benign	0.25
R6272:Vmn2r70	UTSW	7	85558986	missense	probably damaging	1.00
R6324:Vmn2r70	UTSW	7	85558879	missense	probably benign	0.01
R6429:Vmn2r70	UTSW	7	85559068	missense	probably damaging	1.00
R6449:Vmn2r70	UTSW	7	85564949	missense	probably damaging	1.00
R6512:Vmn2r70	UTSW	7	85566097	missense	probably benign
R7000:Vmn2r70	UTSW	7	85559611	missense	probably damaging	0.99
R7141:Vmn2r70	UTSW	7	85558836	missense	probably benign
R7153:Vmn2r70	UTSW	7	85565054	missense	probably damaging	1.00
R7424:Vmn2r70	UTSW	7	85563868	missense	probably damaging	1.00
R7565:Vmn2r70	UTSW	7	85565291	missense	probably benign	0.35
R7567:Vmn2r70	UTSW	7	85565035	missense	probably benign	0.41
R7593:Vmn2r70	UTSW	7	85566104	nonsense	probably null
R7660:Vmn2r70	UTSW	7	85568922	missense	probably damaging	0.99
R7806:Vmn2r70	UTSW	7	85559193	missense	probably benign
R7892:Vmn2r70	UTSW	7	85559380	missense	possibly damaging	0.58
R7965:Vmn2r70	UTSW	7	85561863	missense	probably damaging	0.96
R8052:Vmn2r70	UTSW	7	85563715	missense	probably benign
R8251:Vmn2r70	UTSW	7	85565978	nonsense	probably null
R8814:Vmn2r70	UTSW	7	85565961	missense	probably benign	0.00
R8934:Vmn2r70	UTSW	7	85561980	missense	possibly damaging	0.87
R9225:Vmn2r70	UTSW	7	85559034	missense	probably damaging	1.00
R9322:Vmn2r70	UTSW	7	85559290	missense	possibly damaging	0.92
R9430:Vmn2r70	UTSW	7	85566032	missense	probably benign	0.10
R9477:Vmn2r70	UTSW	7	85569036	missense	possibly damaging	0.50
Z1088:Vmn2r70	UTSW	7	85564760	missense	possibly damaging	0.53
Z1176:Vmn2r70	UTSW	7	85569045	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACAAAGCTGAGAGATTGGTTGTTG -3'
(R):5'- AACATGTATGGACACAGCCC -3'

Sequencing Primer
(F):5'- GGCTTTGACTATGGGAGTATCTC -3'
(R):5'- GTATGGACACAGCCCATTTTAG -3'

Posted On

2015-08-18