Mutagenetix > Incidental Mutation

Incidental Mutation 'R6181:Vmn2r124'

488112

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r124

Ensembl Gene

ENSMUSG00000094396

Gene Name

vomeronasal 2, receptor 124

Synonyms

Vmn2r-ps113, Gm7196

MMRRC Submission

044323-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.308) question?

Stock #

R6181 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18269746-18294482 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18294019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 702 (I702T)

Ref Sequence

ENSEMBL: ENSMUSP00000135613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000176802] [ENSMUST00000231546]

AlphaFold

K7N789

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176802
AA Change: I702T

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135613
Gene: ENSMUSG00000094396
AA Change: I702T

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ANF_receptor	84	449	2.2e-37	PFAM
Pfam:NCD3G	510	563	9.3e-21	PFAM
Pfam:7tm_3	596	831	1.6e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231546

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1b7	A	G	6: 34,392,313 (GRCm39)	H42R	possibly damaging	Het
Ankrd26	T	A	6: 118,525,838 (GRCm39)	H369L	probably benign	Het
Ano7	T	C	1: 93,323,081 (GRCm39)	S474P	probably damaging	Het
Aox3	T	C	1: 58,198,105 (GRCm39)	V639A	probably benign	Het
Arhgef2	T	A	3: 88,542,927 (GRCm39)	V358E	probably damaging	Het
Brpf3	A	G	17: 29,029,555 (GRCm39)	Y505C	probably damaging	Het
Casd1	A	G	6: 4,619,331 (GRCm39)	T120A	probably damaging	Het
Ccdc121	A	G	5: 31,645,399 (GRCm39)	E384G	probably damaging	Het
Cd200l1	A	G	16: 45,238,260 (GRCm39)	S185P	probably benign	Het
Clasp1	T	G	1: 118,347,547 (GRCm39)	S32A	probably benign	Het
Clca3a2	A	T	3: 144,796,469 (GRCm39)	L246*	probably null	Het
Clcn7	A	G	17: 25,370,702 (GRCm39)	I353V	possibly damaging	Het
Cluap1	T	A	16: 3,751,608 (GRCm39)	D322E	probably benign	Het
Cmtm4	A	C	8: 105,082,997 (GRCm39)		probably null	Het
Cntnap2	C	T	6: 46,736,742 (GRCm39)	P723S	probably damaging	Het
Col6a3	T	A	1: 90,744,096 (GRCm39)	T84S	possibly damaging	Het
Corin	A	G	5: 72,529,439 (GRCm39)		probably null	Het
Cubn	G	A	2: 13,354,687 (GRCm39)	T1903I	probably benign	Het
Cyp27b1	A	C	10: 126,886,279 (GRCm39)	D320A	probably damaging	Het
Cyp2j6	G	C	4: 96,424,323 (GRCm39)	L145V	probably damaging	Het
Dennd2a	T	C	6: 39,462,554 (GRCm39)	K652R	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dock1	T	A	7: 134,760,251 (GRCm39)	M1638K	probably damaging	Het
Efcab3	T	C	11: 104,722,159 (GRCm39)	S1924P	probably benign	Het
Eya1	T	C	1: 14,373,096 (GRCm39)	S8G	probably damaging	Het
Fam193a	T	A	5: 34,600,884 (GRCm39)		probably null	Het
Fbxw11	T	A	11: 32,692,575 (GRCm39)	N515K	probably benign	Het
Gm6408	T	C	5: 146,420,582 (GRCm39)	V154A	possibly damaging	Het
Guf1	A	G	5: 69,719,059 (GRCm39)	Y235C	probably damaging	Het
Hnrnpul2	C	T	19: 8,800,596 (GRCm39)	S224L	possibly damaging	Het
Igkv8-19	T	A	6: 70,317,968 (GRCm39)	D86V	probably damaging	Het
Iqcf1	A	T	9: 106,379,174 (GRCm39)	D61V	probably damaging	Het
Lrp5	T	C	19: 3,678,427 (GRCm39)	D476G	probably damaging	Het
Luzp1	A	G	4: 136,270,578 (GRCm39)	T934A	probably benign	Het
Mboat7	A	T	7: 3,686,884 (GRCm39)	Y319N	probably benign	Het
Mdn1	A	G	4: 32,715,953 (GRCm39)	E2045G	probably damaging	Het
Mfsd14b	T	C	13: 65,260,398 (GRCm39)	R12G	probably benign	Het
Micall2	T	A	5: 139,702,506 (GRCm39)	T246S	probably benign	Het
Npepps	A	G	11: 97,132,830 (GRCm39)	V299A	probably damaging	Het
Or2y11	T	A	11: 49,443,120 (GRCm39)	V182D	probably damaging	Het
P2ry13	A	G	3: 59,117,328 (GRCm39)	V150A	probably benign	Het
Pdc	T	C	1: 150,209,021 (GRCm39)	I168T	probably damaging	Het
Pde8b	C	T	13: 95,223,316 (GRCm39)	E313K	probably benign	Het
Pgap1	C	T	1: 54,551,936 (GRCm39)	G499R	probably benign	Het
Ppp1r15b	T	A	1: 133,060,261 (GRCm39)	C259*	probably null	Het
Pramel21	T	A	4: 143,342,828 (GRCm39)		probably null	Het
Ptgs1	A	G	2: 36,141,131 (GRCm39)	E526G	probably damaging	Het
Ptpn21	A	G	12: 98,666,258 (GRCm39)	L271P	probably damaging	Het
Rbm47	T	C	5: 66,183,833 (GRCm39)	T257A	possibly damaging	Het
Rfc3	C	T	5: 151,570,985 (GRCm39)	D104N	probably damaging	Het
Rhobtb3	A	G	13: 76,058,808 (GRCm39)	I330T	probably benign	Het
Rnf207	T	C	4: 152,393,305 (GRCm39)	T570A	probably benign	Het
Rusf1	A	G	7: 127,896,632 (GRCm39)		probably null	Het
Sbpl	T	C	17: 24,172,466 (GRCm39)	H151R	probably damaging	Het
Sstr3	T	C	15: 78,423,661 (GRCm39)	D362G	probably benign	Het
St7	T	C	6: 17,694,363 (GRCm39)		probably null	Het
Tasor	T	A	14: 27,194,235 (GRCm39)	M1145K	probably benign	Het
Tdrd6	A	G	17: 43,939,788 (GRCm39)	V420A	probably damaging	Het
Tet2	C	A	3: 133,193,520 (GRCm39)	E305*	probably null	Het
Tmem209	A	T	6: 30,505,970 (GRCm39)	V68E	probably damaging	Het
Tmod4	A	T	3: 95,035,118 (GRCm39)	I208F	probably damaging	Het
Tpo	G	A	12: 30,181,884 (GRCm39)	L4F	probably benign	Het
Urb1	T	C	16: 90,575,982 (GRCm39)	H858R	probably benign	Het
Utrn	A	G	10: 12,615,200 (GRCm39)	W324R	probably damaging	Het
V1rd19	T	A	7: 23,702,640 (GRCm39)	F35L	possibly damaging	Het
Vmn1r170	C	A	7: 23,305,692 (GRCm39)	N31K	probably damaging	Het
Vmn1r192	T	A	13: 22,371,452 (GRCm39)	Y256F	probably damaging	Het
Vmn2r96	G	A	17: 18,804,126 (GRCm39)	A459T	probably benign	Het
Vwf	G	T	6: 125,543,109 (GRCm39)	A132S	probably damaging	Het
Zfp202	G	A	9: 40,118,638 (GRCm39)	G17E	probably damaging	Het
Zfp608	A	G	18: 55,028,700 (GRCm39)	S1238P	possibly damaging	Het
Zfp804a	G	T	2: 82,087,486 (GRCm39)	M438I	probably damaging	Het
Zgrf1	G	A	3: 127,381,590 (GRCm39)	G246S	probably damaging	Het
Zwint	T	C	10: 72,492,431 (GRCm39)	V115A	probably benign	Het

Other mutations in Vmn2r124

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00988:Vmn2r124	APN	17	18,282,932 (GRCm39)	missense	probably benign	0.04
IGL01356:Vmn2r124	APN	17	18,293,733 (GRCm39)	missense	probably benign	0.08
IGL01387:Vmn2r124	APN	17	18,283,188 (GRCm39)	missense	probably damaging	0.98
IGL01413:Vmn2r124	APN	17	18,282,827 (GRCm39)	missense	probably benign	0.41
IGL01550:Vmn2r124	APN	17	18,283,617 (GRCm39)	critical splice donor site	probably null
IGL01759:Vmn2r124	APN	17	18,284,330 (GRCm39)	missense	probably benign	0.00
IGL01762:Vmn2r124	APN	17	18,283,434 (GRCm39)	missense	possibly damaging	0.51
IGL02132:Vmn2r124	APN	17	18,284,491 (GRCm39)	splice site	probably benign
IGL02290:Vmn2r124	APN	17	18,293,597 (GRCm39)	missense	probably benign	0.09
IGL02370:Vmn2r124	APN	17	18,284,453 (GRCm39)	missense	probably benign	0.14
IGL02527:Vmn2r124	APN	17	18,286,764 (GRCm39)	critical splice acceptor site	probably null
PIT4280001:Vmn2r124	UTSW	17	18,283,487 (GRCm39)	missense	probably benign	0.22
PIT4514001:Vmn2r124	UTSW	17	18,293,974 (GRCm39)	missense	probably benign	0.01
R0362:Vmn2r124	UTSW	17	18,284,486 (GRCm39)	critical splice donor site	probably null
R0401:Vmn2r124	UTSW	17	18,284,407 (GRCm39)	missense	probably damaging	0.99
R0513:Vmn2r124	UTSW	17	18,293,991 (GRCm39)	missense	possibly damaging	0.89
R1139:Vmn2r124	UTSW	17	18,294,052 (GRCm39)	missense	possibly damaging	0.56
R1513:Vmn2r124	UTSW	17	18,283,535 (GRCm39)	missense	probably damaging	1.00
R1669:Vmn2r124	UTSW	17	18,283,206 (GRCm39)	missense	possibly damaging	0.94
R1710:Vmn2r124	UTSW	17	18,282,187 (GRCm39)	splice site	probably benign
R1852:Vmn2r124	UTSW	17	18,283,436 (GRCm39)	missense	probably benign
R1860:Vmn2r124	UTSW	17	18,269,759 (GRCm39)	missense	probably benign	0.11
R1953:Vmn2r124	UTSW	17	18,283,122 (GRCm39)	missense	probably benign	0.08
R2233:Vmn2r124	UTSW	17	18,269,927 (GRCm39)	missense	possibly damaging	0.95
R2234:Vmn2r124	UTSW	17	18,269,927 (GRCm39)	missense	possibly damaging	0.95
R2235:Vmn2r124	UTSW	17	18,269,927 (GRCm39)	missense	possibly damaging	0.95
R2397:Vmn2r124	UTSW	17	18,269,859 (GRCm39)	missense	possibly damaging	0.95
R2519:Vmn2r124	UTSW	17	18,294,280 (GRCm39)	missense	probably damaging	1.00
R3845:Vmn2r124	UTSW	17	18,293,953 (GRCm39)	missense	possibly damaging	0.90
R3846:Vmn2r124	UTSW	17	18,293,953 (GRCm39)	missense	possibly damaging	0.90
R4594:Vmn2r124	UTSW	17	18,294,231 (GRCm39)	missense	probably damaging	1.00
R4612:Vmn2r124	UTSW	17	18,283,284 (GRCm39)	missense	probably benign	0.12
R4790:Vmn2r124	UTSW	17	18,269,855 (GRCm39)	missense	probably damaging	1.00
R4809:Vmn2r124	UTSW	17	18,294,007 (GRCm39)	missense	probably benign	0.00
R5227:Vmn2r124	UTSW	17	18,269,819 (GRCm39)	missense	possibly damaging	0.95
R5254:Vmn2r124	UTSW	17	18,283,339 (GRCm39)	missense	probably benign	0.00
R5609:Vmn2r124	UTSW	17	18,294,102 (GRCm39)	missense	probably benign
R6145:Vmn2r124	UTSW	17	18,283,113 (GRCm39)	missense	probably benign	0.05
R6271:Vmn2r124	UTSW	17	18,283,145 (GRCm39)	missense	probably benign	0.01
R7297:Vmn2r124	UTSW	17	18,293,835 (GRCm39)	missense	probably damaging	1.00
R7397:Vmn2r124	UTSW	17	18,282,947 (GRCm39)	missense	probably damaging	1.00
R7406:Vmn2r124	UTSW	17	18,282,306 (GRCm39)	missense	unknown
R7699:Vmn2r124	UTSW	17	18,293,985 (GRCm39)	missense	probably benign	0.00
R7859:Vmn2r124	UTSW	17	18,282,212 (GRCm39)	missense	probably damaging	1.00
R8121:Vmn2r124	UTSW	17	18,282,433 (GRCm39)	missense	probably benign
R8138:Vmn2r124	UTSW	17	18,283,610 (GRCm39)	missense	probably damaging	0.99
R8756:Vmn2r124	UTSW	17	18,294,094 (GRCm39)	missense	probably benign	0.08
R8796:Vmn2r124	UTSW	17	18,282,933 (GRCm39)	missense	possibly damaging	0.95
R8841:Vmn2r124	UTSW	17	18,283,299 (GRCm39)	missense
R8960:Vmn2r124	UTSW	17	18,283,291 (GRCm39)	nonsense	probably null
R8970:Vmn2r124	UTSW	17	18,294,439 (GRCm39)	missense	probably benign
R9128:Vmn2r124	UTSW	17	18,294,439 (GRCm39)	missense	probably benign
R9566:Vmn2r124	UTSW	17	18,293,581 (GRCm39)	missense	probably benign	0.14
R9680:Vmn2r124	UTSW	17	18,293,758 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAACTTCATTGGTCAGCCC -3'
(R):5'- TCAGGCAAGTTTCTAGACAAGAAGG -3'

Sequencing Primer
(F):5'- GCCCAACACAGCTGCCTG -3'
(R):5'- GCCATGGTATAACTCACAAGGGC -3'

Posted On

2017-10-10