Mutagenetix > Incidental Mutation

Incidental Mutation 'R5023:Vmn2r28'

391113

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r28

Ensembl Gene

ENSMUSG00000066820

Gene Name

vomeronasal 2, receptor 28

Synonyms

EG665255

MMRRC Submission

042614-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R5023 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5479531-5493967 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5486464 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 459 (I459L)

Ref Sequence

ENSEMBL: ENSMUSP00000083477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086297]

AlphaFold

L7N203

Predicted Effect

probably benign
Transcript: ENSMUST00000086297
AA Change: I459L

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000083477
Gene: ENSMUSG00000066820
AA Change: I459L

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	73	470	1.7e-26	PFAM
Pfam:NCD3G	512	565	9.8e-21	PFAM
Pfam:7tm_3	598	833	2.8e-56	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (127/129)

Allele List at MGI

Other mutations in this stock

Total: 124 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	T	11: 72,166,755	H739Q	probably benign	Het
Abca3	C	T	17: 24,374,300	R224C	probably damaging	Het
Abca8b	A	G	11: 109,974,988		probably null	Het
Adam1b	C	T	5: 121,501,159	V608M	probably damaging	Het
Ank2	A	G	3: 126,941,871		probably benign	Het
Ankrd17	A	C	5: 90,282,868	L1019R	probably damaging	Het
Arih1	T	C	9: 59,486,232	N39S	unknown	Het
Best3	G	A	10: 116,988,742	V38I	probably benign	Het
Bicc1	A	G	10: 70,947,883	S393P	possibly damaging	Het
C1d	T	A	11: 17,266,674	N135K	probably benign	Het
Cage1	G	T	13: 38,011,411	S778*	probably null	Het
Capn7	T	A	14: 31,352,426	V262E	probably damaging	Het
Ccdc190	A	G	1: 169,933,087	R95G	probably damaging	Het
Cd163	C	T	6: 124,325,288	T937I	probably damaging	Het
Cdh18	G	A	15: 23,259,666	S194N	probably damaging	Het
Clec4b2	A	T	6: 123,200,956	S77C	probably null	Het
Ctsw	T	A	19: 5,466,049	D237V	probably damaging	Het
Cyp2c68	G	A	19: 39,712,507	T289I	probably benign	Het
Cyp4f39	A	G	17: 32,481,104	Y133C	probably damaging	Het
Dlg5	T	C	14: 24,136,622	E1847G	probably damaging	Het
Dnah7a	C	A	1: 53,647,248	E248*	probably null	Het
Eef2kmt	T	A	16: 5,247,599	D248V	probably damaging	Het
Ewsr1	T	C	11: 5,088,054	T113A	possibly damaging	Het
Fbxo4	A	G	15: 3,977,756		probably null	Het
Fbxo43	A	T	15: 36,162,929	M44K	probably benign	Het
Fchsd1	A	G	18: 37,964,810	I340T	possibly damaging	Het
Fgf5	C	A	5: 98,262,015	A141E	probably damaging	Het
Gfm1	T	C	3: 67,473,544	V664A	probably damaging	Het
Glp2r	T	C	11: 67,741,032	T121A	possibly damaging	Het
Gm10803	A	C	2: 93,564,172	L96F	probably damaging	Het
Gm12169	T	A	11: 46,528,532	D58E	probably damaging	Het
Gm14569	T	C	X: 36,430,817	D1413G	probably benign	Het
Gm15455	T	C	1: 33,837,351		noncoding transcript	Het
Gm1818	G	C	12: 48,555,535		noncoding transcript	Het
Gm4907	G	A	X: 23,907,241	G327E	probably damaging	Het
Gm5155	A	T	7: 17,902,706	D236V	probably damaging	Het
Gm7030	A	G	17: 36,109,415		probably benign	Het
Gnb2	G	A	5: 137,529,940		probably null	Het
Gpc4	G	A	X: 52,074,563	R148C	probably damaging	Het
Gpx5	C	T	13: 21,288,745	V140I	probably damaging	Het
Gtpbp1	A	T	15: 79,719,221	Q637L	possibly damaging	Het
Herc1	A	T	9: 66,470,326	K3458M	possibly damaging	Het
Hhat	A	T	1: 192,727,339	L138Q	probably damaging	Het
Hipk1	G	T	3: 103,777,507	T264N	probably damaging	Het
Hjurp	A	T	1: 88,275,050	Y71N	possibly damaging	Het
Hnf4g	G	T	3: 3,644,587	A144S	probably damaging	Het
Hook3	TAGAG	TAG	8: 26,032,019		probably null	Het
Ifi204	G	A	1: 173,751,740	T513I	possibly damaging	Het
Ino80b	G	T	6: 83,125,042	S26R	probably damaging	Het
Ints9	T	A	14: 64,980,228	L68H	probably damaging	Het
Isx	C	T	8: 74,892,714	T178I	probably benign	Het
Kel	A	G	6: 41,688,111	L255P	probably damaging	Het
Klf11	T	A	12: 24,655,359	S271T	probably benign	Het
Klhl20	A	C	1: 161,109,220		probably null	Het
Lama2	G	A	10: 27,190,504	T1127I	probably damaging	Het
Larp1b	T	A	3: 41,033,985	N81K	possibly damaging	Het
Lsm11	T	C	11: 45,944,839	D25G	probably damaging	Het
Map3k20	T	A	2: 72,402,345		probably benign	Het
Mbd6	C	T	10: 127,286,441	V173I	probably benign	Het
Milr1	A	G	11: 106,766,965	D131G	possibly damaging	Het
Mybpc1	T	G	10: 88,543,774	D635A	probably damaging	Het
Myh7b	G	C	2: 155,632,373	R1669S	possibly damaging	Het
Ndufa7	A	G	17: 33,824,603		probably benign	Het
Ndufs3	C	A	2: 90,898,660	A161S	probably benign	Het
Neo1	T	C	9: 58,990,271	D134G	probably damaging	Het
Nme4	G	A	17: 26,093,668	T129I	probably benign	Het
Npffr2	A	T	5: 89,582,687	T159S	probably benign	Het
Nup153	A	T	13: 46,681,109		probably benign	Het
Olfr139	T	A	11: 74,045,055	D73V	probably damaging	Het
Olfr616	A	C	7: 103,565,171	M36R	possibly damaging	Het
Pate2	T	C	9: 35,686,111		probably benign	Het
Pcca	A	G	14: 122,790,398	N73D	probably damaging	Het
Pip5k1c	G	A	10: 81,310,889		probably null	Het
Pkhd1l1	A	T	15: 44,528,191	H1551L	probably benign	Het
Pkhd1l1	G	A	15: 44,582,227	M3768I	probably benign	Het
Ppa2	A	G	3: 133,370,434	M275V	probably benign	Het
Ptpn23	G	A	9: 110,388,556	T744I	probably benign	Het
Ptprv	A	T	1: 135,124,506		noncoding transcript	Het
Rad17	A	T	13: 100,645,063	H75Q	possibly damaging	Het
Rbm44	T	C	1: 91,169,098		probably null	Het
Rbpj	C	T	5: 53,649,415	R201W	probably damaging	Het
Rbpjl	C	A	2: 164,410,289	L215I	probably damaging	Het
Ror1	A	G	4: 100,425,932	E398G	probably benign	Het
Scamp3	T	A	3: 89,182,293		probably benign	Het
Selenot	CATGTATG	CATGTATGTATG	3: 58,588,453		probably null	Het
Siglec15	A	G	18: 78,048,675	C104R	probably damaging	Het
Sis	T	C	3: 72,934,122	I787V	probably benign	Het
Slc17a8	T	C	10: 89,576,560	D521G	probably benign	Het
Slc7a10	T	A	7: 35,197,355	M172K	possibly damaging	Het
Slco4c1	G	A	1: 96,841,228	P303L	probably damaging	Het
Slitrk3	T	C	3: 73,050,648	T264A	probably benign	Het
Smg8	A	C	11: 87,086,137	V206G	probably damaging	Het
Smg9	A	G	7: 24,405,872	K137R	possibly damaging	Het
Srrm2	C	A	17: 23,819,317		probably benign	Het
Sult2a2	T	A	7: 13,734,860	Y84N	possibly damaging	Het
Syngr2	A	T	11: 117,812,510	I34F	probably benign	Het
Tank	G	A	2: 61,578,635		probably benign	Het
Tead4	T	C	6: 128,294,171		probably benign	Het
Tex36	A	T	7: 133,595,290	C33S	probably benign	Het
Timm21	C	A	18: 84,949,414	V112L	possibly damaging	Het
Tmem240	T	A	4: 155,739,674	L92Q	probably damaging	Het
Tmem268	C	G	4: 63,568,540	S100C	probably damaging	Het
Tmod3	G	A	9: 75,511,206	P183S	probably damaging	Het
Trappc10	G	T	10: 78,217,160	F260L	possibly damaging	Het
Trim16	A	T	11: 62,836,812	Y233F	probably benign	Het
Trmt112	T	C	19: 6,910,753	V91A	probably benign	Het
Ttc3	A	G	16: 94,429,359	E450G	probably benign	Het
Ttk	A	G	9: 83,863,541	D647G	probably damaging	Het
Ubash3b	A	G	9: 41,037,459	C187R	possibly damaging	Het
Vmn1r29	T	A	6: 58,308,067	Y257*	probably null	Het
Vmn1r33	T	C	6: 66,612,105	N155S	probably benign	Het
Vps16	A	G	2: 130,439,452	S235G	probably benign	Het
Vwde	T	C	6: 13,192,642	I421V	possibly damaging	Het
Xiap	T	C	X: 42,094,465	F23L	probably benign	Het
Xkr7	A	G	2: 153,054,380	T385A	probably benign	Het
Zbtb11	A	G	16: 56,006,065	Y819C	probably damaging	Het
Zfp112	A	G	7: 24,126,484	T624A	probably damaging	Het
Zfp592	A	G	7: 81,024,347	D353G	probably damaging	Het
Zfp62	T	A	11: 49,215,729	S216T	probably damaging	Het
Zfp677	A	T	17: 21,397,794	H371L	probably damaging	Het
Zfp780b	T	C	7: 27,963,448	K561E	possibly damaging	Het
Zfp936	G	A	7: 43,187,257	D31N	probably damaging	Het
Znfx1	T	C	2: 167,039,826	Y217C	probably damaging	Het
Zpbp	C	T	11: 11,415,248	E200K	probably benign	Het

Other mutations in Vmn2r28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Vmn2r28	APN	7	5488069	missense	probably benign	0.12
IGL01061:Vmn2r28	APN	7	5488184	missense	probably damaging	1.00
IGL01160:Vmn2r28	APN	7	5486478	missense	probably damaging	0.99
IGL01335:Vmn2r28	APN	7	5481088	missense	possibly damaging	0.67
IGL01532:Vmn2r28	APN	7	5486464	missense	probably benign	0.16
IGL01791:Vmn2r28	APN	7	5488162	missense	probably benign	0.00
IGL01875:Vmn2r28	APN	7	5481303	missense	probably benign	0.30
IGL02161:Vmn2r28	APN	7	5488124	missense	possibly damaging	0.88
IGL02499:Vmn2r28	APN	7	5490569	missense	probably damaging	0.98
IGL02858:Vmn2r28	APN	7	5481004	missense	probably damaging	0.99
IGL03061:Vmn2r28	APN	7	5484016	missense	probably damaging	0.98
G1patch:Vmn2r28	UTSW	7	5488409	missense	probably benign	0.13
R0288:Vmn2r28	UTSW	7	5488021	missense	probably damaging	1.00
R0361:Vmn2r28	UTSW	7	5493716	missense	probably benign	0.00
R0396:Vmn2r28	UTSW	7	5488514	missense	probably benign	0.05
R0480:Vmn2r28	UTSW	7	5490457	missense	probably benign	0.00
R0485:Vmn2r28	UTSW	7	5488690	missense	probably damaging	1.00
R0837:Vmn2r28	UTSW	7	5488027	missense	probably damaging	0.99
R1282:Vmn2r28	UTSW	7	5481302	missense	probably damaging	0.99
R1296:Vmn2r28	UTSW	7	5481545	missense	possibly damaging	0.81
R1829:Vmn2r28	UTSW	7	5493811	missense	probably benign
R1853:Vmn2r28	UTSW	7	5481247	nonsense	probably null
R1869:Vmn2r28	UTSW	7	5486346	missense	probably benign	0.00
R1887:Vmn2r28	UTSW	7	5488289	missense	possibly damaging	0.90
R1961:Vmn2r28	UTSW	7	5481071	missense	possibly damaging	0.85
R1998:Vmn2r28	UTSW	7	5488314	missense	possibly damaging	0.87
R2392:Vmn2r28	UTSW	7	5484131	missense	probably damaging	0.98
R2432:Vmn2r28	UTSW	7	5488702	missense	probably damaging	0.99
R3055:Vmn2r28	UTSW	7	5481392	missense	probably damaging	0.98
R3753:Vmn2r28	UTSW	7	5488027	missense	probably damaging	0.99
R3877:Vmn2r28	UTSW	7	5488358	missense	probably damaging	1.00
R4307:Vmn2r28	UTSW	7	5490708	missense	probably damaging	0.99
R5057:Vmn2r28	UTSW	7	5486464	missense	probably benign	0.16
R5083:Vmn2r28	UTSW	7	5480672	missense	possibly damaging	0.77
R5427:Vmn2r28	UTSW	7	5486377	missense	probably damaging	0.99
R5472:Vmn2r28	UTSW	7	5487944	critical splice donor site	probably null
R5511:Vmn2r28	UTSW	7	5484012	missense	possibly damaging	0.61
R5731:Vmn2r28	UTSW	7	5488669	missense	probably benign	0.41
R6091:Vmn2r28	UTSW	7	5493791	missense	possibly damaging	0.88
R6179:Vmn2r28	UTSW	7	5488004	nonsense	probably null
R6276:Vmn2r28	UTSW	7	5490731	missense	probably benign	0.01
R6441:Vmn2r28	UTSW	7	5488475	missense	probably benign	0.00
R6463:Vmn2r28	UTSW	7	5486436	missense	probably benign	0.07
R6528:Vmn2r28	UTSW	7	5490685	missense	probably benign	0.12
R6725:Vmn2r28	UTSW	7	5488409	missense	probably benign	0.13
R6760:Vmn2r28	UTSW	7	5481230	missense	probably damaging	0.97
R6849:Vmn2r28	UTSW	7	5480807	missense	probably damaging	1.00
R7110:Vmn2r28	UTSW	7	5490734	missense	probably benign	0.06
R7146:Vmn2r28	UTSW	7	5481496	missense	probably benign	0.05
R7407:Vmn2r28	UTSW	7	5481309	missense	probably damaging	1.00
R7563:Vmn2r28	UTSW	7	5488201	missense	probably benign	0.00
R7611:Vmn2r28	UTSW	7	5481256	missense	probably benign	0.02
R7808:Vmn2r28	UTSW	7	5493679	missense	probably damaging	0.98
R7862:Vmn2r28	UTSW	7	5490614	missense	probably benign	0.00
R7916:Vmn2r28	UTSW	7	5480819	missense	probably damaging	1.00
R8183:Vmn2r28	UTSW	7	5488148	missense	probably damaging	1.00
R8334:Vmn2r28	UTSW	7	5484060	missense	probably damaging	1.00
R8519:Vmn2r28	UTSW	7	5486348	missense	probably benign	0.31
R8989:Vmn2r28	UTSW	7	5490474	missense	probably benign	0.00
R9066:Vmn2r28	UTSW	7	5488597	missense	probably damaging	1.00
R9422:Vmn2r28	UTSW	7	5480748	missense	probably damaging	1.00
R9469:Vmn2r28	UTSW	7	5484119	missense	probably damaging	0.99
R9608:Vmn2r28	UTSW	7	5488221	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CACTTGAGAGTGTTTACTGCTATG -3'
(R):5'- TGTGACTTGGAAAGGACCTGAG -3'

Sequencing Primer
(F):5'- GCCAACTCAAGCATGTCT -3'
(R):5'- GCACACATGCGTTTGGTTC -3'

Posted On

2016-06-06