Mutagenetix > Incidental Mutation

Incidental Mutation 'RF018:Vmn2r23'

603670

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r23

Ensembl Gene

ENSMUSG00000091620

Gene Name

vomeronasal 2, receptor 23

Synonyms

EG435916

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

RF018 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123702821-123742291 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 123713116 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 317 (L317R)

Ref Sequence

ENSEMBL: ENSMUSP00000126682 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172391]

AlphaFold

E9PXI5

Predicted Effect

probably benign
Transcript: ENSMUST00000172391
AA Change: L317R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000126682
Gene: ENSMUSG00000091620
AA Change: L317R

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ANF_receptor	79	461	1.7e-31	PFAM
Pfam:NCD3G	513	566	1.2e-23	PFAM
Pfam:7tm_3	596	834	1.5e-55	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.6%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	GTGGCTGCT	GTGGCTGCTTTGGCTGCT	1: 82,913,572		probably benign	Het
Abca15	T	A	7: 120,394,460	V1301E	possibly damaging	Het
Adcy10	T	A	1: 165,552,109	V980E	probably damaging	Het
Aldh1a2	T	C	9: 71,285,270	V469A	probably damaging	Het
Alk	T	A	17: 71,949,813	T684S	probably benign	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,560,912		probably benign	Het
Anks1b	G	A	10: 90,033,225	G49D	probably damaging	Het
Blm	CCTCCTCC	CCTCCTCCTCCTACTCCTCC	7: 80,512,926		probably null	Het
Btnl10	CAAA	CAAAAAA	11: 58,923,926		probably benign	Het
C130060K24Rik	T	A	6: 65,456,190	Y331*	probably null	Het
Ccdc81	C	A	7: 89,866,698		probably null	Het
Cd209g	A	G	8: 4,137,398	Y194C	probably benign	Het
Cenpc1	A	T	5: 86,045,369	S220R	possibly damaging	Het
Ddx42	A	T	11: 106,232,804		probably null	Het
Dock4	GTGCCGGTGCCCGT	G	12: 40,844,399		probably null	Het
Eif5b	A	T	1: 38,021,592		probably null	Het
Ell2	C	A	13: 75,763,608	H338N	probably damaging	Het
Entpd2	CTT	CTTT	2: 25,400,895		probably null	Het
Flywch1	CCACTCCTGGTGT	CCACTCCTGGTGTGGGGAGGCTACGTACTCACGCACTCCTGGTGT	17: 23,762,166		probably null	Het
Gm8369	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	19: 11,511,742		probably null	Het
Gnat2	T	C	3: 108,096,329	S107P	unknown	Het
Guk1	T	A	11: 59,186,408	D70V	probably benign	Het
Itpkb	C	T	1: 180,333,322	R338W	probably damaging	Het
Krtap28-10	ACCACAGCCACAGCCACCACAGCCACAGCC	ACCACAGCCACAGCCCCCACAGCCACAGCCACCACAGCCACAGCC	1: 83,042,253		probably benign	Het
Lamp3	A	C	16: 19,701,250	I61R	probably benign	Het
Lrch1	GCTGGTGGTGT	G	14: 74,947,555		probably null	Het
Lrp1b	C	T	2: 41,110,907	E2216K		Het
Lrrc27	A	G	7: 139,226,100	D227G	probably benign	Het
Lrrk1	C	T	7: 66,381,502	G16E	possibly damaging	Het
Lrrtm1	T	A	6: 77,244,351	S264T	possibly damaging	Het
Lypd8	CCAATCACCAACA	CCAATCACCAACAGTTTCCTCGCCTCTGTTACCCCACCAATCACCAACA	11: 58,390,232		probably benign	Het
Mamld1	CAG	CAGAAG	X: 71,118,849		probably benign	Het
Mpo	G	C	11: 87,797,639	A375P	probably damaging	Het
Myo9a	A	G	9: 59,869,586	H1089R	probably benign	Het
Ndufc2	T	C	7: 97,407,021	*109Q	probably null	Het
Nudt16	A	T	9: 105,131,699	Y28N	probably damaging	Het
Nudt4	A	T	10: 95,549,813		probably null	Het
Nusap1	AGATACACGTTAGCAGTGAGGAGCAAGCTG	AGATACACGTTAGCAGTGAGGAGCAAGCTGCGATACACGTTAGCAGTGAGGAGCAAGCTG	2: 119,627,578		probably benign	Het
Olfr697	T	A	7: 106,741,485	I150F	probably benign	Het
P2ry12	T	A	3: 59,217,412	T281S	probably benign	Het
P4ha2	TGTTGG	T	11: 54,110,246		probably null	Het
Pcnx2	A	G	8: 125,877,519	V666A	probably damaging	Het
Pde6a	T	A	18: 61,231,403	I177N	possibly damaging	Het
Pgm2	A	T	4: 99,962,303		probably null	Het
Plce1	T	A	19: 38,717,207	W1019R	probably damaging	Het
Plch1	C	A	3: 63,721,215	K542N	probably damaging	Het
Plekhj1	T	C	10: 80,796,637	Q113R	not run	Het
Postn	A	T	3: 54,384,492	I705F	probably damaging	Het
Ppp1r15b	G	T	1: 133,131,614		probably benign	Het
Prkab1	T	C	5: 116,021,630	E59G	probably damaging	Het
Raph1	GG	GGGGG	1: 60,489,267		probably benign	Het
Rassf6	AGCAATGGGGATTC	AGCAATGGGGATTCTGCCTCACTCATGGTCCTGTAGCGCAATGGGGATTC	5: 90,608,929		probably benign	Het
Rnf144a	TCTC	TCTCTCTCTCTCTCTCACTC	12: 26,314,014		probably benign	Het
Ros1	T	A	10: 52,155,121	M484L	probably benign	Het
Rpa1	GCTGCTGCC	GC	11: 75,318,517		probably null	Het
Sectm1b	A	G	11: 121,054,930	V195A	probably benign	Het
Sirpa	TCATCAG	T	2: 129,609,203		probably null	Het
Slc28a1	T	A	7: 81,169,284		probably null	Het
Sphk1	G	C	11: 116,534,945	S42T	possibly damaging	Het
Spta1	T	C	1: 174,209,319	L1132P	probably damaging	Het
Srrt	A	T	5: 137,300,000	N303K	probably benign	Het
Ssh2	A	G	11: 77,454,054	E955G	probably damaging	Het
Strn	CCAGTC	CCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCACAGTC	17: 78,677,283		probably null	Het
Tchhl1	T	C	3: 93,470,384	F132L	probably benign	Het
Tex14	A	G	11: 87,514,746	E828G	probably benign	Het
Tfeb	CAG	CAGGAG	17: 47,786,095		probably benign	Het
Tmem28	CGCCGC	CGCCGCTGCCGC	X: 99,821,361		probably benign	Het
Tmtc1	T	C	6: 148,247,511	Y699C	probably damaging	Het
Ubn1	A	G	16: 5,064,392	Y239C	probably damaging	Het
Vmn2r78	C	T	7: 86,954,431	R606*	probably null	Het
Vps72	T	G	3: 95,121,408		probably null	Het
Zc3h11a	A	G	1: 133,627,115	S376P	possibly damaging	Het
Zfp384	GCCCAGGC	GCCCAGGCCCAGTCCCAGGC	6: 125,036,489		probably benign	Het
Zfp598	CAACCAC	CAACCACAACCAC	17: 24,680,771		probably benign	Het
Zfp628	TACTCCTCCACCC	T	7: 4,920,949		probably benign	Het

Other mutations in Vmn2r23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Vmn2r23	APN	6	123729725	missense	possibly damaging	0.89
IGL01012:Vmn2r23	APN	6	123729596	missense	probably benign
IGL01073:Vmn2r23	APN	6	123712800	missense	possibly damaging	0.82
IGL01547:Vmn2r23	APN	6	123704424	missense	possibly damaging	0.88
IGL01571:Vmn2r23	APN	6	123704407	missense	probably damaging	1.00
IGL01950:Vmn2r23	APN	6	123741886	missense	possibly damaging	0.80
IGL02028:Vmn2r23	APN	6	123741860	missense	probably damaging	1.00
IGL02248:Vmn2r23	APN	6	123741744	missense	probably damaging	0.96
IGL02318:Vmn2r23	APN	6	123741836	missense	probably benign	0.10
IGL02649:Vmn2r23	APN	6	123704478	missense	probably benign
IGL02831:Vmn2r23	APN	6	123704385	missense	probably benign	0.22
IGL02832:Vmn2r23	APN	6	123704396	missense	probably benign	0.00
IGL02865:Vmn2r23	APN	6	123741619	missense	probably damaging	1.00
IGL02964:Vmn2r23	APN	6	123741782	missense	possibly damaging	0.93
IGL03347:Vmn2r23	APN	6	123704374	missense	probably benign	0.01
IGL03396:Vmn2r23	APN	6	123729626	missense	probably damaging	1.00
PIT4472001:Vmn2r23	UTSW	6	123712977	missense	possibly damaging	0.62
R0597:Vmn2r23	UTSW	6	123729721	missense	probably benign	0.08
R0677:Vmn2r23	UTSW	6	123713451	missense	probably benign	0.00
R0904:Vmn2r23	UTSW	6	123742135	missense	probably damaging	1.00
R1330:Vmn2r23	UTSW	6	123742004	missense	probably damaging	1.00
R1424:Vmn2r23	UTSW	6	123713270	nonsense	probably null
R1629:Vmn2r23	UTSW	6	123713427	missense	probably benign	0.05
R1842:Vmn2r23	UTSW	6	123729690	missense	possibly damaging	0.77
R1867:Vmn2r23	UTSW	6	123702915	missense	probably damaging	1.00
R1919:Vmn2r23	UTSW	6	123713010	missense	possibly damaging	0.94
R2087:Vmn2r23	UTSW	6	123741499	missense	probably benign	0.00
R2338:Vmn2r23	UTSW	6	123704425	missense	possibly damaging	0.88
R2568:Vmn2r23	UTSW	6	123742188	nonsense	probably null
R2867:Vmn2r23	UTSW	6	123713164	missense	possibly damaging	0.94
R2867:Vmn2r23	UTSW	6	123713164	missense	possibly damaging	0.94
R3500:Vmn2r23	UTSW	6	123713170	missense	possibly damaging	0.81
R3789:Vmn2r23	UTSW	6	123741389	missense	probably damaging	1.00
R4164:Vmn2r23	UTSW	6	123729738	missense	probably benign
R4506:Vmn2r23	UTSW	6	123702925	missense	probably damaging	1.00
R4652:Vmn2r23	UTSW	6	123741730	missense	probably damaging	1.00
R4697:Vmn2r23	UTSW	6	123741826	missense	probably damaging	1.00
R4840:Vmn2r23	UTSW	6	123713074	missense	probably damaging	1.00
R4983:Vmn2r23	UTSW	6	123733349	missense	probably damaging	1.00
R5276:Vmn2r23	UTSW	6	123712977	missense	possibly damaging	0.62
R5392:Vmn2r23	UTSW	6	123704364	missense	probably benign	0.36
R5528:Vmn2r23	UTSW	6	123713002	missense	probably damaging	1.00
R5529:Vmn2r23	UTSW	6	123713451	missense	probably benign	0.00
R5664:Vmn2r23	UTSW	6	123713074	missense	probably damaging	1.00
R5749:Vmn2r23	UTSW	6	123733273	missense	probably benign
R5761:Vmn2r23	UTSW	6	123712759	missense	probably benign	0.39
R5762:Vmn2r23	UTSW	6	123733393	missense	probably damaging	1.00
R5868:Vmn2r23	UTSW	6	123712942	missense	probably benign	0.12
R5935:Vmn2r23	UTSW	6	123741895	missense	possibly damaging	0.94
R6242:Vmn2r23	UTSW	6	123704400	missense	possibly damaging	0.82
R6416:Vmn2r23	UTSW	6	123712902	missense	probably damaging	1.00
R6524:Vmn2r23	UTSW	6	123713425	missense	probably damaging	1.00
R6576:Vmn2r23	UTSW	6	123733273	missense	probably benign
R6925:Vmn2r23	UTSW	6	123704553	missense	probably damaging	1.00
R7148:Vmn2r23	UTSW	6	123713022	missense	probably benign
R7215:Vmn2r23	UTSW	6	123704364	missense	probably benign	0.36
R7252:Vmn2r23	UTSW	6	123741581	missense	probably damaging	0.97
R7403:Vmn2r23	UTSW	6	123704579	missense	probably benign	0.01
R8015:Vmn2r23	UTSW	6	123704541	missense	probably benign	0.00
R8143:Vmn2r23	UTSW	6	123741353	missense	probably damaging	0.99
R8474:Vmn2r23	UTSW	6	123704640	missense	probably benign	0.36
R8520:Vmn2r23	UTSW	6	123741656	missense	probably damaging	0.99
R8679:Vmn2r23	UTSW	6	123713472	missense	probably damaging	0.99
R8713:Vmn2r23	UTSW	6	123703032	missense
R8966:Vmn2r23	UTSW	6	123742120	missense	possibly damaging	0.94
R9124:Vmn2r23	UTSW	6	123742079	missense	possibly damaging	0.57
R9163:Vmn2r23	UTSW	6	123741823	missense	probably damaging	1.00
R9189:Vmn2r23	UTSW	6	123704364	missense	probably benign	0.36
R9451:Vmn2r23	UTSW	6	123733393	missense	probably damaging	1.00
R9495:Vmn2r23	UTSW	6	123712713	missense	probably benign	0.30
R9514:Vmn2r23	UTSW	6	123712713	missense	probably benign	0.30
T0975:Vmn2r23	UTSW	6	123713161	missense	probably benign	0.00
Z1088:Vmn2r23	UTSW	6	123742108	missense	probably damaging	0.98
Z1177:Vmn2r23	UTSW	6	123729725	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GACGAACCATGGACTTTGTG -3'
(R):5'- AGTTCCCTGATCCCATGCTG -3'

Sequencing Primer
(F):5'- AGGTTCCAGAATTTCCTGCTAAGG -3'
(R):5'- CCCATGCTGTTCAAAATATGGAC -3'

Posted On

2019-12-04