Mutagenetix > Incidental Mutation

Incidental Mutation 'R6683:Vmn2r42'

527572

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r42

Ensembl Gene

ENSMUSG00000070844

Gene Name

vomeronasal 2, receptor 42

Synonyms

V2r4

MMRRC Submission

044802-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R6683 (G1)

Quality Score

92.0077

Status

Not validated

Chromosome

Chromosomal Location

8183265-8200320 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8184225 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 799 (K799N)

Ref Sequence

ENSEMBL: ENSMUSP00000119761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086282] [ENSMUST00000142934] [ENSMUST00000146278]

AlphaFold

O35192

Predicted Effect

probably damaging
Transcript: ENSMUST00000086282
AA Change: K849N

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083463
Gene: ENSMUSG00000070844
AA Change: K849N

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	59	71	N/A	INTRINSIC
Pfam:ANF_receptor	73	470	1.6e-33	PFAM
Pfam:NCD3G	512	565	8.1e-21	PFAM
Pfam:7tm_3	598	833	2.8e-55	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129936

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136957

Predicted Effect

probably benign
Transcript: ENSMUST00000142934

SMART Domains

Protein: ENSMUSP00000123451
Gene: ENSMUSG00000070844

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	59	71	N/A	INTRINSIC
Pfam:ANF_receptor	73	469	7.4e-34	PFAM
Pfam:NCD3G	512	563	4.2e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000146278
AA Change: K799N

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119761
Gene: ENSMUSG00000070844
AA Change: K799N

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	59	71	N/A	INTRINSIC
Pfam:ANF_receptor	73	469	1.9e-33	PFAM
Pfam:NCD3G	512	565	6.7e-17	PFAM
Pfam:7tm_3	548	784	2e-78	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	T	C	1: 74,282,445	E169G	possibly damaging	Het
Acat2	G	A	17: 12,943,927	R377C	probably benign	Het
Adgrg6	A	G	10: 14,456,167	V398A	probably damaging	Het
BC025920	A	G	10: 81,609,301	H86R	probably damaging	Het
BC028528	T	C	3: 95,888,227	T88A	probably damaging	Het
Creb3l4	T	A	3: 90,237,805	T347S	probably benign	Het
Dhcr7	T	C	7: 143,843,311	V180A	probably damaging	Het
Fam187a	T	C	11: 102,886,189	V273A	probably damaging	Het
Hdgfl3	G	A	7: 81,900,353	R78W	possibly damaging	Het
Krt8	T	C	15: 101,998,004	T357A	probably benign	Het
Lkaaear1	TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG	TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG	2: 181,697,561		probably benign	Het
Ly6d	A	T	15: 74,762,450	V97D	probably benign	Het
Map3k13	T	C	16: 21,892,312	I115T	probably benign	Het
Muc2	G	A	7: 141,751,477	V173I	probably benign	Het
Nck2	T	C	1: 43,569,178	S327P	probably benign	Het
Ncoa7	T	C	10: 30,771,721	R20G	probably damaging	Het
Nlrp4f	G	A	13: 65,199,195	T83I	probably benign	Het
Nploc4	A	G	11: 120,383,330	S546P	probably damaging	Het
Olfr1444	A	G	19: 12,862,650	S292G	probably damaging	Het
Olfr396-ps1	A	G	11: 73,928,113	Y36C	probably damaging	Het
Olfr577	C	T	7: 102,973,713	R93Q	probably benign	Het
Olfr671	C	T	7: 104,975,968	V10I	probably benign	Het
Panx1	T	C	9: 15,008,011	E184G	probably benign	Het
Parp14	T	C	16: 35,834,677	Y1808C	probably damaging	Het
Plcb1	A	T	2: 134,786,593	S21C	probably benign	Het
Ppil6	A	G	10: 41,498,431	N103D	probably benign	Het
Pth1r	C	T	9: 110,727,251		probably null	Het
Rapgef4	A	T	2: 72,054,779		probably benign	Het
Rlf	A	G	4: 121,147,926	S1286P	probably damaging	Het
Rnf217	A	G	10: 31,534,826	V291A	possibly damaging	Het
Serpina3a	T	C	12: 104,119,637	M117T	probably benign	Het
St8sia4	T	C	1: 95,653,699	D106G	probably damaging	Het
Tjp2	A	G	19: 24,120,843	I485T	probably damaging	Het
Trdc	T	C	14: 54,144,235		probably benign	Het
Ttn	A	G	2: 76,710,660	L33994P	probably damaging	Het
Zfp42	G	A	8: 43,296,056	T136M	possibly damaging	Het
Znhit1	A	T	5: 136,982,633	S109T	probably benign	Het

Other mutations in Vmn2r42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02444:Vmn2r42	APN	7	8184313	missense	probably damaging	0.99
IGL02793:Vmn2r42	APN	7	8194853	missense	probably benign	0.00
IGL02875:Vmn2r42	APN	7	8194853	missense	probably benign	0.00
R1743:Vmn2r42	UTSW	7	8184265	missense	probably benign	0.06
R3943:Vmn2r42	UTSW	7	8194780	missense	possibly damaging	0.93
R4117:Vmn2r42	UTSW	7	8194840	missense	probably damaging	1.00
R4760:Vmn2r42	UTSW	7	8184277	missense	probably damaging	1.00
R5233:Vmn2r42	UTSW	7	8194838	nonsense	probably null
R6245:Vmn2r42	UTSW	7	8192734	missense	probably damaging	1.00
R6709:Vmn2r42	UTSW	7	8192619	missense	probably benign	0.09
R7396:Vmn2r42	UTSW	7	8192642	missense	probably benign	0.00
R7450:Vmn2r42	UTSW	7	8184221	missense	probably benign	0.00
R7583:Vmn2r42	UTSW	7	8194741	nonsense	probably null
R7973:Vmn2r42	UTSW	7	8194873	missense	probably benign	0.03
R8777:Vmn2r42	UTSW	7	8192693	missense	probably benign	0.14
R8777-TAIL:Vmn2r42	UTSW	7	8192693	missense	probably benign	0.14
R8900:Vmn2r42	UTSW	7	8194793	missense	probably benign	0.15
R8972:Vmn2r42	UTSW	7	8184332	missense	probably damaging	1.00
R9335:Vmn2r42	UTSW	7	8194759	missense	probably damaging	0.99
R9453:Vmn2r42	UTSW	7	8184296	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- GCAAGATTTTATGGACACTGTACGG -3'
(R):5'- CCTGATGCATTCAATGAAGCC -3'

Sequencing Primer
(F):5'- TATGGACACTGTACGGAAGTTC -3'
(R):5'- GAAGCCAAGTTCTTGACCTTCAG -3'

Posted On

2018-07-23