Mutagenetix > Incidental Mutation

Incidental Mutation 'R5239:Vmn1r122'

400591

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r122

Ensembl Gene

ENSMUSG00000094001

Gene Name

vomeronasal 1 receptor 122

Synonyms

Gm5729

MMRRC Submission

042810-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R5239 (G1)

Quality Score

168

Status

Not validated

Chromosome

Chromosomal Location

20867136-20868053 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20868023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 11 (T11A)

Ref Sequence

ENSEMBL: ENSMUSP00000131706 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164409]

AlphaFold

K7N726

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164409
AA Change: T11A

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000131706
Gene: ENSMUSG00000094001
AA Change: T11A

Domain	Start	End	E-Value	Type
Pfam:TAS2R	8	297	1.2e-17	PFAM
Pfam:7tm_1	31	288	1.6e-6	PFAM
Pfam:V1R	41	296	2.5e-18	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

94% (60/64)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	C	2: 35,244,848 (GRCm39)	N168S	probably benign	Het
Adam3	T	A	8: 25,184,207 (GRCm39)	T598S	possibly damaging	Het
Ago1	G	T	4: 126,335,008 (GRCm39)	H405N	probably damaging	Het
Atp8b4	T	C	2: 126,234,781 (GRCm39)		probably null	Het
Baz1a	A	G	12: 54,945,129 (GRCm39)	S1409P	probably damaging	Het
Brinp2	T	C	1: 158,078,908 (GRCm39)	E305G	probably benign	Het
Bub1	T	A	2: 127,663,616 (GRCm39)	R262W	probably damaging	Het
Cish	T	A	9: 107,177,111 (GRCm39)		probably null	Het
Clip4	T	A	17: 72,106,072 (GRCm39)	I85K	probably damaging	Het
Cpsf2	T	A	12: 101,953,532 (GRCm39)	C187*	probably null	Het
Ddx51	C	A	5: 110,801,514 (GRCm39)	T54K	probably benign	Het
Drc1	A	T	5: 30,520,467 (GRCm39)	T603S	probably benign	Het
Eif3l	T	A	15: 78,973,995 (GRCm39)	M470K	possibly damaging	Het
Entpd2	A	G	2: 25,290,830 (GRCm39)	T445A	probably damaging	Het
Epha1	C	A	6: 42,341,944 (GRCm39)	V369L	possibly damaging	Het
Galnt9	T	A	5: 110,692,635 (GRCm39)	L23H	probably damaging	Het
Gm1110	A	G	9: 26,804,866 (GRCm39)	F399S	probably benign	Het
Gm43972	G	A	5: 25,866,119 (GRCm39)		noncoding transcript	Het
Gm6489	T	A	1: 31,326,351 (GRCm39)		noncoding transcript	Het
Grik5	A	T	7: 24,764,895 (GRCm39)	M82K	probably damaging	Het
Hibch	T	C	1: 52,904,767 (GRCm39)	Y121H	probably damaging	Het
Hyou1	T	A	9: 44,296,560 (GRCm39)	I495N	possibly damaging	Het
Il1rl2	T	C	1: 40,404,255 (GRCm39)	S459P	probably benign	Het
Kel	A	T	6: 41,665,048 (GRCm39)	L254*	probably null	Het
Lasp1	A	G	11: 97,690,686 (GRCm39)	K23E	probably damaging	Het
Lemd2	C	A	17: 27,422,773 (GRCm39)	R207L	possibly damaging	Het
Myh1	A	T	11: 67,106,051 (GRCm39)	Q1222L	probably benign	Het
Myh2	G	A	11: 67,083,269 (GRCm39)	V1411I	probably benign	Het
Myo1f	T	C	17: 33,820,709 (GRCm39)	F851L	probably benign	Het
Myom3	G	A	4: 135,528,303 (GRCm39)		probably benign	Het
Nbas	C	A	12: 13,491,519 (GRCm39)	L1464I	probably benign	Het
Nr2e3	G	T	9: 59,857,059 (GRCm39)		probably benign	Het
Nrxn1	T	C	17: 91,011,537 (GRCm39)	D364G	probably damaging	Het
Or2y1	A	G	11: 49,385,555 (GRCm39)	H65R	possibly damaging	Het
Or5p68	T	A	7: 107,945,853 (GRCm39)	T112S	probably benign	Het
Or8g54	T	A	9: 39,707,492 (GRCm39)	S274T	probably damaging	Het
Or9g4b	T	G	2: 85,616,002 (GRCm39)	I49S	probably damaging	Het
Otog	T	A	7: 45,936,859 (GRCm39)	S1523T	probably benign	Het
Pcnx2	A	T	8: 126,587,821 (GRCm39)		probably null	Het
Pkdcc	C	A	17: 83,523,413 (GRCm39)	H173Q	probably damaging	Het
Pkn1	A	G	8: 84,410,811 (GRCm39)	L267P	probably damaging	Het
Polr1a	A	G	6: 71,890,021 (GRCm39)	H80R	probably damaging	Het
Pwwp3a	C	T	10: 80,064,255 (GRCm39)	R14*	probably null	Het
Rag1	G	T	2: 101,473,300 (GRCm39)	A614E	possibly damaging	Het
Ryr1	T	C	7: 28,735,553 (GRCm39)	D4075G	probably damaging	Het
Sdk2	C	A	11: 113,758,859 (GRCm39)	R455L	probably damaging	Het
Smoc2	A	G	17: 14,589,227 (GRCm39)	N232S	probably benign	Het
Snd1	T	C	6: 28,545,524 (GRCm39)	L360P	probably damaging	Het
Tmem26	T	A	10: 68,587,096 (GRCm39)	F181L	probably damaging	Het
Tnrc6a	A	G	7: 122,785,842 (GRCm39)	M1512V	probably benign	Het
Tsc22d1	T	A	14: 76,655,852 (GRCm39)	I20N	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vpreb1a	A	T	16: 16,686,592 (GRCm39)	Y99*	probably null	Het
Wnt9b	A	T	11: 103,622,054 (GRCm39)		probably null	Het
Zfp143	A	G	7: 109,693,559 (GRCm39)	E604G	probably damaging	Het

Other mutations in Vmn1r122

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01015:Vmn1r122	APN	7	20,867,761 (GRCm39)	missense	probably damaging	1.00
IGL01322:Vmn1r122	APN	7	20,868,036 (GRCm39)	missense	probably benign	0.07
IGL01397:Vmn1r122	APN	7	20,867,707 (GRCm39)	missense	possibly damaging	0.91
IGL02894:Vmn1r122	APN	7	20,867,649 (GRCm39)	missense	probably benign
R1837:Vmn1r122	UTSW	7	20,867,291 (GRCm39)	missense	probably benign	0.34
R3040:Vmn1r122	UTSW	7	20,867,371 (GRCm39)	missense	probably benign
R4111:Vmn1r122	UTSW	7	20,867,438 (GRCm39)	missense	probably damaging	1.00
R4868:Vmn1r122	UTSW	7	20,867,227 (GRCm39)	missense	probably benign	0.01
R6851:Vmn1r122	UTSW	7	20,867,845 (GRCm39)	missense	probably benign
R7010:Vmn1r122	UTSW	7	20,867,896 (GRCm39)	missense	probably damaging	0.97
R7184:Vmn1r122	UTSW	7	20,867,820 (GRCm39)	missense	probably benign	0.14
R7922:Vmn1r122	UTSW	7	20,867,587 (GRCm39)	missense	possibly damaging	0.89
R8539:Vmn1r122	UTSW	7	20,867,281 (GRCm39)	missense	possibly damaging	0.94
R9344:Vmn1r122	UTSW	7	20,867,271 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- TGCCACCATGTGACTGAAG -3'
(R):5'- GGCAATTTACCTGTAGTGTGATAG -3'

Sequencing Primer
(F):5'- TGCCACCATGTGACTGAAGAATTC -3'
(R):5'- ACCTGTAGTGTGATAGAATAGTGTC -3'

Posted On

2016-07-06