Mutagenetix > Incidental Mutation

Incidental Mutation 'R2067:Vmn2r120'

226801

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r120

Ensembl Gene

ENSMUSG00000090655

Gene Name

vomeronasal 2, receptor 120

Synonyms

EG224916

MMRRC Submission

040072-MU

Accession Numbers

Genbank: NM_001104591; MGI: 3644483

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R2067 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57508783-57545314 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57524553 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 412 (H412L)

Ref Sequence

ENSEMBL: ENSMUSP00000129296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165781]

AlphaFold

A0A3Q4EG79

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165781
AA Change: H412L

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129296
Gene: ENSMUSG00000090655
AA Change: H412L

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	80	474	5.9e-42	PFAM
Pfam:NCD3G	517	570	7.5e-22	PFAM
Pfam:7tm_3	598	836	1.3e-54	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (76/78)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	T	A	4: 122,689,322 (GRCm38)		probably benign	Het
Abca2	A	T	2: 25,437,505 (GRCm38)	I669F	possibly damaging	Het
Acin1	T	A	14: 54,665,254 (GRCm38)	Q360H	probably damaging	Het
Aldh3b1	T	A	19: 3,921,755 (GRCm38)	D72V	probably benign	Het
Alox12e	G	A	11: 70,316,002 (GRCm38)	R620W	probably damaging	Het
Alpl	T	C	4: 137,749,545 (GRCm38)		probably benign	Het
Amy2a1	T	C	3: 113,530,568 (GRCm38)	I108V	probably benign	Het
Ascc2	A	T	11: 4,681,496 (GRCm38)	M646L	probably benign	Het
Bod1l	G	A	5: 41,817,086 (GRCm38)	T2295M	probably benign	Het
Ccdc9	A	T	7: 16,278,550 (GRCm38)		probably null	Het
Clptm1l	C	T	13: 73,607,723 (GRCm38)	Q153*	probably null	Het
Csmd1	A	G	8: 15,900,782 (GRCm38)	S3476P	probably benign	Het
Ddias	A	T	7: 92,859,699 (GRCm38)	M336K	possibly damaging	Het
Ehd1	T	C	19: 6,298,078 (GRCm38)	L362P	probably benign	Het
Epha1	G	T	6: 42,366,053 (GRCm38)	H187Q	probably benign	Het
Espl1	T	C	15: 102,299,090 (GRCm38)	S330P	probably damaging	Het
Fbln7	G	T	2: 128,877,466 (GRCm38)	R61L	probably damaging	Het
Fbxo41	C	T	6: 85,478,471 (GRCm38)	W577*	probably null	Het
Fgb	C	A	3: 83,049,689 (GRCm38)	D25Y	probably benign	Het
Gc	T	A	5: 89,446,517 (GRCm38)	K37N	probably damaging	Het
Gfpt1	T	C	6: 87,057,754 (GRCm38)	I178T	probably benign	Het
Gm12695	T	C	4: 96,769,726 (GRCm38)	T69A	probably benign	Het
Gm3944	C	A	12: 18,853,894 (GRCm38)	S8*	probably null	Het
Gm9912	T	C	3: 149,185,159 (GRCm38)	T113A	unknown	Het
Gpr156	A	G	16: 37,978,751 (GRCm38)	D109G	probably benign	Het
Hoxd1	A	T	2: 74,763,366 (GRCm38)	T89S	probably benign	Het
Htt	C	T	5: 34,825,982 (GRCm38)	T975I	probably benign	Het
Itpr3	G	A	17: 27,098,076 (GRCm38)	M768I	probably benign	Het
Krt4	C	A	15: 101,924,664 (GRCm38)	A3S	possibly damaging	Het
Mrto4	T	C	4: 139,349,023 (GRCm38)	K86E	probably benign	Het
Mup4	T	A	4: 59,960,622 (GRCm38)		probably benign	Het
Myh1	G	A	11: 67,214,620 (GRCm38)	D1079N	possibly damaging	Het
Myo1a	A	G	10: 127,705,478 (GRCm38)	N43D	probably benign	Het
Napa	A	T	7: 16,115,278 (GRCm38)		probably benign	Het
Ndufa12	A	G	10: 94,220,707 (GRCm38)	D99G	probably damaging	Het
Neb	A	G	2: 52,284,263 (GRCm38)	I1528T	probably benign	Het
Nek1	T	C	8: 61,007,162 (GRCm38)	S41P	probably damaging	Het
Nolc1	C	T	19: 46,083,607 (GRCm38)	T612M	probably damaging	Het
Nsun5	T	G	5: 135,375,072 (GRCm38)	Y301D	probably damaging	Het
Oas1g	T	C	5: 120,885,883 (GRCm38)	E121G	probably damaging	Het
Olfr1085	G	T	2: 86,658,437 (GRCm38)	T7K	probably damaging	Het
Olfr1170	A	G	2: 88,224,474 (GRCm38)	V186A	possibly damaging	Het
Olfr324	A	G	11: 58,597,570 (GRCm38)	N58S	probably damaging	Het
Olfr397	A	G	11: 73,964,914 (GRCm38)	Y102C	probably damaging	Het
Olfr522	T	A	7: 140,162,909 (GRCm38)	I14F	possibly damaging	Het
Olfr910	T	A	9: 38,539,280 (GRCm38)	N128K	probably benign	Het
Osmr	T	C	15: 6,815,415 (GRCm38)	N957D	probably benign	Het
Parn	G	A	16: 13,603,069 (GRCm38)	S473L	probably damaging	Het
Phc2	T	C	4: 128,747,136 (GRCm38)	F672S	probably damaging	Het
Pik3c2b	T	C	1: 133,099,611 (GRCm38)	S1283P	probably damaging	Het
Pole2	G	A	12: 69,228,152 (GRCm38)	R5W	probably benign	Het
Prl7a2	T	A	13: 27,660,887 (GRCm38)	Y172F	probably damaging	Het
Ptprz1	A	G	6: 23,050,389 (GRCm38)		probably benign	Het
Rapgef3	C	A	15: 97,766,961 (GRCm38)	G7V	probably damaging	Het
Ripor1	T	A	8: 105,617,708 (GRCm38)	S491R	probably benign	Het
Rnf141	A	G	7: 110,821,365 (GRCm38)		probably benign	Het
Ryr3	C	T	2: 112,946,957 (GRCm38)	R285Q	probably damaging	Het
Sall4	T	C	2: 168,756,545 (GRCm38)	N125S	probably benign	Het
Schip1	A	G	3: 68,617,786 (GRCm38)	K360R	probably damaging	Het
Senp6	T	A	9: 80,089,869 (GRCm38)	V55E	probably benign	Het
Skint1	T	A	4: 112,025,533 (GRCm38)	V258D	probably benign	Het
Slc25a16	T	A	10: 62,932,751 (GRCm38)	H130Q	probably benign	Het
Styx	T	C	14: 45,373,563 (GRCm38)	V217A	probably benign	Het
Syne2	G	A	12: 75,888,342 (GRCm38)		probably null	Het
Tagap1	A	G	17: 6,956,860 (GRCm38)	S146P	probably benign	Het
Tatdn2	A	G	6: 113,704,142 (GRCm38)	K379E	probably benign	Het
Thrap3	T	C	4: 126,175,396 (GRCm38)	Y654C	possibly damaging	Het
Tle2	T	C	10: 81,580,551 (GRCm38)	L135P	probably damaging	Het
Tmc1	A	G	19: 20,824,309 (GRCm38)	F451S	possibly damaging	Het
Trpm7	G	A	2: 126,797,727 (GRCm38)	P1650S	probably damaging	Het
Ttll4	G	A	1: 74,680,382 (GRCm38)	R16H	possibly damaging	Het
Ttn	T	C	2: 76,714,373 (GRCm38)	N32795S	probably damaging	Het
Tubgcp6	T	C	15: 89,104,489 (GRCm38)	E803G	probably benign	Het
Ubr2	A	G	17: 46,963,145 (GRCm38)		probably null	Het
Ugt2b35	A	G	5: 87,001,553 (GRCm38)	D221G	probably damaging	Het
Unc45b	G	A	11: 82,911,689 (GRCm38)	A4T	probably benign	Het
Vmn1r70	A	T	7: 10,634,337 (GRCm38)	I251F	possibly damaging	Het
Zfp59	A	G	7: 27,853,510 (GRCm38)	N129S	probably benign	Het
Zgrf1	T	C	3: 127,613,350 (GRCm38)	C1589R	probably damaging	Het

Other mutations in Vmn2r120

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01335:Vmn2r120	APN	17	57,525,732 (GRCm38)	missense	possibly damaging	0.86
IGL01346:Vmn2r120	APN	17	57,545,232 (GRCm38)	missense	probably benign	0.11
IGL01996:Vmn2r120	APN	17	57,525,222 (GRCm38)	missense	possibly damaging	0.92
IGL02503:Vmn2r120	APN	17	57,509,385 (GRCm38)	missense	probably benign	0.40
IGL02582:Vmn2r120	APN	17	57,524,724 (GRCm38)	missense	probably damaging	0.99
IGL02747:Vmn2r120	APN	17	57,524,719 (GRCm38)	missense	probably benign	0.19
IGL02896:Vmn2r120	APN	17	57,509,008 (GRCm38)	missense	probably damaging	1.00
IGL03139:Vmn2r120	APN	17	57,524,742 (GRCm38)	missense	probably benign	0.39
IGL03342:Vmn2r120	APN	17	57,509,372 (GRCm38)	missense	probably benign	0.03
A4554:Vmn2r120	UTSW	17	57,525,715 (GRCm38)	missense	probably benign	0.01
R0207:Vmn2r120	UTSW	17	57,525,052 (GRCm38)	missense	probably benign	0.17
R0472:Vmn2r120	UTSW	17	57,524,518 (GRCm38)	missense	probably benign	0.03
R0517:Vmn2r120	UTSW	17	57,508,949 (GRCm38)	missense	probably damaging	1.00
R1109:Vmn2r120	UTSW	17	57,525,829 (GRCm38)	missense	probably benign	0.09
R1316:Vmn2r120	UTSW	17	57,525,939 (GRCm38)	missense	probably benign	0.28
R1543:Vmn2r120	UTSW	17	57,522,374 (GRCm38)	missense	probably benign	0.09
R1795:Vmn2r120	UTSW	17	57,525,038 (GRCm38)	missense	probably benign	0.35
R1850:Vmn2r120	UTSW	17	57,525,826 (GRCm38)	missense	probably benign	0.19
R1920:Vmn2r120	UTSW	17	57,524,839 (GRCm38)	missense	probably benign	0.01
R1921:Vmn2r120	UTSW	17	57,524,839 (GRCm38)	missense	probably benign	0.01
R1922:Vmn2r120	UTSW	17	57,524,839 (GRCm38)	missense	probably benign	0.01
R2063:Vmn2r120	UTSW	17	57,524,553 (GRCm38)	missense	possibly damaging	0.88
R2064:Vmn2r120	UTSW	17	57,524,553 (GRCm38)	missense	possibly damaging	0.88
R2065:Vmn2r120	UTSW	17	57,524,553 (GRCm38)	missense	possibly damaging	0.88
R2286:Vmn2r120	UTSW	17	57,508,958 (GRCm38)	missense	probably damaging	1.00
R2291:Vmn2r120	UTSW	17	57,509,479 (GRCm38)	missense	probably damaging	1.00
R3416:Vmn2r120	UTSW	17	57,509,241 (GRCm38)	missense	possibly damaging	0.89
R3874:Vmn2r120	UTSW	17	57,524,954 (GRCm38)	missense	probably benign	0.40
R4023:Vmn2r120	UTSW	17	57,536,718 (GRCm38)	missense	possibly damaging	0.92
R4024:Vmn2r120	UTSW	17	57,536,718 (GRCm38)	missense	possibly damaging	0.92
R4348:Vmn2r120	UTSW	17	57,522,466 (GRCm38)	missense	possibly damaging	0.47
R4409:Vmn2r120	UTSW	17	57,509,477 (GRCm38)	missense	probably damaging	1.00
R4610:Vmn2r120	UTSW	17	57,509,120 (GRCm38)	missense	probably damaging	1.00
R4771:Vmn2r120	UTSW	17	57,524,887 (GRCm38)	missense	probably damaging	1.00
R4786:Vmn2r120	UTSW	17	57,522,048 (GRCm38)	missense	probably benign	0.14
R4927:Vmn2r120	UTSW	17	57,509,125 (GRCm38)	missense	probably damaging	1.00
R5285:Vmn2r120	UTSW	17	57,536,703 (GRCm38)	missense	probably damaging	1.00
R5566:Vmn2r120	UTSW	17	57,545,290 (GRCm38)	missense	possibly damaging	0.95
R5578:Vmn2r120	UTSW	17	57,522,514 (GRCm38)	missense	probably benign	0.01
R5643:Vmn2r120	UTSW	17	57,524,977 (GRCm38)	missense	probably benign	0.01
R5644:Vmn2r120	UTSW	17	57,524,977 (GRCm38)	missense	probably benign	0.01
R5781:Vmn2r120	UTSW	17	57,524,938 (GRCm38)	missense	probably benign	0.00
R6084:Vmn2r120	UTSW	17	57,525,721 (GRCm38)	missense	probably benign	0.15
R6120:Vmn2r120	UTSW	17	57,525,973 (GRCm38)	missense	probably benign	0.02
R6160:Vmn2r120	UTSW	17	57,509,418 (GRCm38)	missense	probably benign	0.03
R6248:Vmn2r120	UTSW	17	57,545,287 (GRCm38)	missense	probably benign	0.03
R6256:Vmn2r120	UTSW	17	57,524,700 (GRCm38)	nonsense	probably null
R6730:Vmn2r120	UTSW	17	57,525,012 (GRCm38)	missense	probably benign	0.03
R6821:Vmn2r120	UTSW	17	57,536,659 (GRCm38)	missense	probably benign	0.00
R6868:Vmn2r120	UTSW	17	57,545,218 (GRCm38)	missense	probably benign	0.00
R6880:Vmn2r120	UTSW	17	57,509,187 (GRCm38)	missense	probably damaging	1.00
R6986:Vmn2r120	UTSW	17	57,509,340 (GRCm38)	missense	probably damaging	1.00
R7276:Vmn2r120	UTSW	17	57,524,881 (GRCm38)	missense	probably benign	0.11
R7373:Vmn2r120	UTSW	17	57,509,406 (GRCm38)	missense	probably benign	0.35
R7653:Vmn2r120	UTSW	17	57,509,258 (GRCm38)	missense	possibly damaging	0.93
R7667:Vmn2r120	UTSW	17	57,536,657 (GRCm38)	missense	probably benign	0.04
R7775:Vmn2r120	UTSW	17	57,525,942 (GRCm38)	missense	probably damaging	1.00
R7778:Vmn2r120	UTSW	17	57,525,942 (GRCm38)	missense	probably damaging	1.00
R7797:Vmn2r120	UTSW	17	57,508,874 (GRCm38)	missense	probably damaging	1.00
R7824:Vmn2r120	UTSW	17	57,525,942 (GRCm38)	missense	probably damaging	1.00
R7902:Vmn2r120	UTSW	17	57,509,244 (GRCm38)	missense	possibly damaging	0.87
R7922:Vmn2r120	UTSW	17	57,524,683 (GRCm38)	missense	probably damaging	0.99
R8508:Vmn2r120	UTSW	17	57,525,843 (GRCm38)	missense	probably benign	0.03
R8847:Vmn2r120	UTSW	17	57,509,217 (GRCm38)	missense	probably benign	0.01
R8882:Vmn2r120	UTSW	17	57,545,229 (GRCm38)	missense	probably benign	0.01
R9134:Vmn2r120	UTSW	17	57,525,093 (GRCm38)	missense	probably damaging	1.00
R9161:Vmn2r120	UTSW	17	57,524,864 (GRCm38)	missense
R9336:Vmn2r120	UTSW	17	57,525,201 (GRCm38)	missense	possibly damaging	0.91
RF005:Vmn2r120	UTSW	17	57,521,991 (GRCm38)	missense	possibly damaging	0.65
Z1177:Vmn2r120	UTSW	17	57,509,245 (GRCm38)	missense	probably benign	0.00
Z1188:Vmn2r120	UTSW	17	57,522,436 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTCCTTTAAATTCAGGGCACATATAT -3'
(R):5'- CCATCCAAATATCCAGATGATATCTTT -3'

Sequencing Primer
(F):5'- GGCATCTATCAAGCTTTCATAGGACC -3'
(R):5'- CCAATGGATCCTTGGCAT -3'

Posted On

2014-09-17