Mutagenetix > Incidental Mutation

Incidental Mutation 'R4525:Vmn2r70'

334410

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r70

Ensembl Gene

ENSMUSG00000090806

Gene Name

vomeronasal 2, receptor 70

Synonyms

EG620835

MMRRC Submission

041767-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R4525 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85207911-85218296 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85208787 bp (GRCm39)

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

97% (32/33)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	A	G	2: 32,464,388 (GRCm39)		probably benign	Het
Ampd1	T	C	3: 103,002,049 (GRCm39)	V510A	probably damaging	Het
Aoc1	A	G	6: 48,883,609 (GRCm39)	Y495C	probably damaging	Het
Asap2	G	A	12: 21,279,293 (GRCm39)		probably null	Het
Cd47	T	C	16: 49,688,155 (GRCm39)	V25A	probably benign	Het
Cer1	A	G	4: 82,802,906 (GRCm39)	F139L	possibly damaging	Het
Cpne3	G	T	4: 19,523,206 (GRCm39)	P527H	probably damaging	Het
Erbin	T	C	13: 103,993,600 (GRCm39)	I347V	probably benign	Het
Gm17542	T	C	10: 58,549,435 (GRCm39)	D31G	probably null	Het
Hivep1	T	A	13: 42,309,289 (GRCm39)	C510S	probably benign	Het
Hnrnpk	A	G	13: 58,541,696 (GRCm39)		probably benign	Het
Iqcf4	T	A	9: 106,447,827 (GRCm39)	Q27H	possibly damaging	Het
Kcna4	C	A	2: 107,125,410 (GRCm39)	T48K	possibly damaging	Het
Loxhd1	T	A	18: 77,444,608 (GRCm39)	C336S	probably damaging	Het
Ltbp3	A	G	19: 5,796,387 (GRCm39)	T306A	probably benign	Het
Oplah	G	T	15: 76,189,709 (GRCm39)	L176M	probably damaging	Het
Pon1	T	C	6: 5,177,412 (GRCm39)		probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,133 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,483,966 (GRCm39)	I3932T	probably damaging	Het
Shank1	A	T	7: 44,004,014 (GRCm39)	H1902L	possibly damaging	Het
Sipa1	T	A	19: 5,701,985 (GRCm39)	Q947L	probably benign	Het
Slit2	G	T	5: 48,407,215 (GRCm39)	C882F	probably damaging	Het
Speer4a1	A	T	5: 26,244,341 (GRCm39)		probably null	Het
Spta1	A	G	1: 174,034,676 (GRCm39)	D1035G	probably null	Het
Tas2r140	T	C	6: 133,032,207 (GRCm39)	T184A	possibly damaging	Het
Timm10b	A	G	7: 105,332,013 (GRCm39)	N828S	probably benign	Het
Tmem161b	T	C	13: 84,405,921 (GRCm39)	I50T	probably benign	Het
Tnpo3	T	C	6: 29,561,397 (GRCm39)	N628D	probably benign	Het
Tnrc6a	A	G	7: 122,779,005 (GRCm39)	T102A	probably benign	Het

Other mutations in Vmn2r70

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00978:Vmn2r70	APN	7	85,213,007 (GRCm39)	missense	probably benign	0.00
IGL01140:Vmn2r70	APN	7	85,214,379 (GRCm39)	nonsense	probably null
IGL01287:Vmn2r70	APN	7	85,218,227 (GRCm39)	nonsense	probably null
IGL01581:Vmn2r70	APN	7	85,213,122 (GRCm39)	splice site	probably null
IGL01632:Vmn2r70	APN	7	85,215,280 (GRCm39)	missense	probably benign	0.00
IGL01725:Vmn2r70	APN	7	85,208,594 (GRCm39)	missense	probably damaging	1.00
IGL02244:Vmn2r70	APN	7	85,214,211 (GRCm39)	missense	probably benign
IGL02288:Vmn2r70	APN	7	85,214,342 (GRCm39)	missense	probably benign	0.31
IGL02313:Vmn2r70	APN	7	85,214,376 (GRCm39)	missense	probably damaging	0.99
IGL02591:Vmn2r70	APN	7	85,214,153 (GRCm39)	missense	probably damaging	0.96
IGL02725:Vmn2r70	APN	7	85,214,553 (GRCm39)	missense	possibly damaging	0.46
IGL02797:Vmn2r70	APN	7	85,208,295 (GRCm39)	missense	probably benign	0.00
R0045:Vmn2r70	UTSW	7	85,215,252 (GRCm39)	missense	probably damaging	1.00
R0729:Vmn2r70	UTSW	7	85,215,112 (GRCm39)	missense	probably benign	0.00
R0967:Vmn2r70	UTSW	7	85,208,827 (GRCm39)	missense	probably damaging	0.99
R1217:Vmn2r70	UTSW	7	85,208,269 (GRCm39)	missense	probably damaging	1.00
R1351:Vmn2r70	UTSW	7	85,214,262 (GRCm39)	missense	probably damaging	1.00
R1387:Vmn2r70	UTSW	7	85,207,969 (GRCm39)	missense	probably benign	0.12
R1483:Vmn2r70	UTSW	7	85,208,375 (GRCm39)	missense	probably benign	0.04
R1796:Vmn2r70	UTSW	7	85,213,011 (GRCm39)	nonsense	probably null
R1809:Vmn2r70	UTSW	7	85,215,130 (GRCm39)	missense	probably benign	0.23
R2154:Vmn2r70	UTSW	7	85,212,923 (GRCm39)	missense	possibly damaging	0.67
R2173:Vmn2r70	UTSW	7	85,214,290 (GRCm39)	missense	probably benign
R2334:Vmn2r70	UTSW	7	85,208,800 (GRCm39)	missense	probably benign	0.05
R2871:Vmn2r70	UTSW	7	85,208,227 (GRCm39)	missense	probably damaging	1.00
R2871:Vmn2r70	UTSW	7	85,208,227 (GRCm39)	missense	probably damaging	1.00
R3975:Vmn2r70	UTSW	7	85,208,540 (GRCm39)	missense	probably benign	0.00
R4527:Vmn2r70	UTSW	7	85,208,787 (GRCm39)	missense	probably damaging	1.00
R4535:Vmn2r70	UTSW	7	85,214,541 (GRCm39)	missense	probably damaging	1.00
R5181:Vmn2r70	UTSW	7	85,208,387 (GRCm39)	missense	probably damaging	0.99
R5600:Vmn2r70	UTSW	7	85,212,935 (GRCm39)	missense	probably benign	0.07
R5641:Vmn2r70	UTSW	7	85,208,572 (GRCm39)	missense	probably damaging	0.99
R5726:Vmn2r70	UTSW	7	85,208,315 (GRCm39)	missense	probably damaging	1.00
R5943:Vmn2r70	UTSW	7	85,215,199 (GRCm39)	missense	probably benign	0.09
R6166:Vmn2r70	UTSW	7	85,215,189 (GRCm39)	missense	probably benign	0.25
R6272:Vmn2r70	UTSW	7	85,208,194 (GRCm39)	missense	probably damaging	1.00
R6324:Vmn2r70	UTSW	7	85,208,087 (GRCm39)	missense	probably benign	0.01
R6429:Vmn2r70	UTSW	7	85,208,276 (GRCm39)	missense	probably damaging	1.00
R6449:Vmn2r70	UTSW	7	85,214,157 (GRCm39)	missense	probably damaging	1.00
R6512:Vmn2r70	UTSW	7	85,215,305 (GRCm39)	missense	probably benign
R7000:Vmn2r70	UTSW	7	85,208,819 (GRCm39)	missense	probably damaging	0.99
R7141:Vmn2r70	UTSW	7	85,208,044 (GRCm39)	missense	probably benign
R7153:Vmn2r70	UTSW	7	85,214,262 (GRCm39)	missense	probably damaging	1.00
R7424:Vmn2r70	UTSW	7	85,213,076 (GRCm39)	missense	probably damaging	1.00
R7565:Vmn2r70	UTSW	7	85,214,499 (GRCm39)	missense	probably benign	0.35
R7567:Vmn2r70	UTSW	7	85,214,243 (GRCm39)	missense	probably benign	0.41
R7593:Vmn2r70	UTSW	7	85,215,312 (GRCm39)	nonsense	probably null
R7660:Vmn2r70	UTSW	7	85,218,130 (GRCm39)	missense	probably damaging	0.99
R7806:Vmn2r70	UTSW	7	85,208,401 (GRCm39)	missense	probably benign
R7892:Vmn2r70	UTSW	7	85,208,588 (GRCm39)	missense	possibly damaging	0.58
R7965:Vmn2r70	UTSW	7	85,211,071 (GRCm39)	missense	probably damaging	0.96
R8052:Vmn2r70	UTSW	7	85,212,923 (GRCm39)	missense	probably benign
R8251:Vmn2r70	UTSW	7	85,215,186 (GRCm39)	nonsense	probably null
R8814:Vmn2r70	UTSW	7	85,215,169 (GRCm39)	missense	probably benign	0.00
R8934:Vmn2r70	UTSW	7	85,211,188 (GRCm39)	missense	possibly damaging	0.87
R9225:Vmn2r70	UTSW	7	85,208,242 (GRCm39)	missense	probably damaging	1.00
R9322:Vmn2r70	UTSW	7	85,208,498 (GRCm39)	missense	possibly damaging	0.92
R9430:Vmn2r70	UTSW	7	85,215,240 (GRCm39)	missense	probably benign	0.10
R9477:Vmn2r70	UTSW	7	85,218,244 (GRCm39)	missense	possibly damaging	0.50
Z1088:Vmn2r70	UTSW	7	85,213,968 (GRCm39)	missense	possibly damaging	0.53
Z1176:Vmn2r70	UTSW	7	85,218,253 (GRCm39)	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