Mutagenetix > Incidental Mutation

Incidental Mutation 'R4977:Or2g7'

382805

Institutional Source

Beutler Lab

Gene Symbol

Or2g7

Ensembl Gene

ENSMUSG00000094878

Gene Name

olfactory receptor family 2 subfamily G member 7

Synonyms

GA_x6K02T2PSCP-2515350-2516303, MOR256-19, Olfr130

MMRRC Submission

042572-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R4977 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38378064-38379017 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38378638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 192 (H192L)

Ref Sequence

ENSEMBL: ENSMUSP00000149601 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087129] [ENSMUST00000215726] [ENSMUST00000217390]

AlphaFold

Q8VFC1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087129
AA Change: H192L

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000084369
Gene: ENSMUSG00000094878
AA Change: H192L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	307	1.8e-44	PFAM
Pfam:7TM_GPCR_Srsx	34	223	1.9e-5	PFAM
Pfam:7tm_1	40	289	1.9e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215726
AA Change: H192L

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217390
AA Change: H192L

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.2%

Validation Efficiency

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,026,899 (GRCm39)	D910G	probably benign	Het
Amy1	C	T	3: 113,363,026 (GRCm39)		probably null	Het
C1s2	A	G	6: 124,612,598 (GRCm39)	M19T	probably damaging	Het
Cadps2	A	G	6: 23,599,478 (GRCm39)	I276T	probably damaging	Het
Cdyl2	A	G	8: 117,302,008 (GRCm39)	C458R	probably damaging	Het
Cep112	T	C	11: 108,325,062 (GRCm39)	S35P	probably damaging	Het
Chd9	T	C	8: 91,760,336 (GRCm39)	L2027P	possibly damaging	Het
Clcn4	T	A	7: 7,294,436 (GRCm39)	I411F	probably benign	Het
Cyp3a57	T	C	5: 145,286,236 (GRCm39)		probably null	Het
Dis3l	A	C	9: 64,214,483 (GRCm39)	S919A	probably benign	Het
Dnah8	A	G	17: 30,882,275 (GRCm39)	T616A	probably benign	Het
Emx2	A	G	19: 59,447,678 (GRCm39)	T11A	probably damaging	Het
Fbxl18	A	G	5: 142,871,840 (GRCm39)	L465P	probably damaging	Het
Fbxw27	G	A	9: 109,601,187 (GRCm39)	T311I	probably damaging	Het
Fhip1b	A	T	7: 105,038,542 (GRCm39)	D232E	probably damaging	Het
Fstl5	C	T	3: 76,317,801 (GRCm39)	Q156*	probably null	Het
Ggn	G	T	7: 28,871,621 (GRCm39)	G334C	probably damaging	Het
Grik2	T	C	10: 49,008,841 (GRCm39)	N749D	probably damaging	Het
Helb	A	G	10: 119,946,786 (GRCm39)	S176P	probably benign	Het
Hyal1	A	G	9: 107,456,153 (GRCm39)	D73G	probably benign	Het
Ifi205	C	A	1: 173,842,574 (GRCm39)	R374I	probably benign	Het
Ift172	A	T	5: 31,429,460 (GRCm39)	V567D	possibly damaging	Het
Ighv1-43	A	T	12: 114,909,845 (GRCm39)	S26T	possibly damaging	Het
Il21	C	A	3: 37,286,653 (GRCm39)	S21I	probably damaging	Het
Jam3	A	G	9: 27,009,669 (GRCm39)	V309A	probably damaging	Het
Kcnh4	A	T	11: 100,637,659 (GRCm39)	L666Q	probably damaging	Het
Kcnk10	A	G	12: 98,406,946 (GRCm39)	V250A	probably benign	Het
Lama1	A	G	17: 68,044,677 (GRCm39)	Y192C	probably damaging	Het
Lamb2	G	A	9: 108,364,846 (GRCm39)	R1200H	probably damaging	Het
Lilra6	T	G	7: 3,917,382 (GRCm39)	R204S	probably benign	Het
Lrrn1	A	G	6: 107,545,668 (GRCm39)	I489V	probably benign	Het
Mdh2	T	A	5: 135,812,263 (GRCm39)	D57E	probably damaging	Het
Mfsd2a	A	G	4: 122,844,302 (GRCm39)	S282P	probably benign	Het
Midn	T	A	10: 79,986,018 (GRCm39)	I36N	probably damaging	Het
Mpped1	A	T	15: 83,680,907 (GRCm39)		probably benign	Het
Myh10	A	G	11: 68,689,197 (GRCm39)	D1258G	possibly damaging	Het
Nup62	T	C	7: 44,478,449 (GRCm39)	S155P	possibly damaging	Het
Or2t46	A	G	11: 58,472,455 (GRCm39)	T262A	possibly damaging	Het
Or52ab7	A	T	7: 102,978,040 (GRCm39)	M116L	probably benign	Het
Pex7	T	C	10: 19,745,078 (GRCm39)	T258A	probably benign	Het
Plg	A	G	17: 12,621,976 (GRCm39)	D432G	probably damaging	Het
Plxnd1	A	T	6: 115,971,337 (GRCm39)	S144T	probably damaging	Het
Prkch	T	C	12: 73,749,667 (GRCm39)	F420S	possibly damaging	Het
Psg26	A	G	7: 18,209,235 (GRCm39)	V391A	probably benign	Het
Psg29	G	A	7: 16,942,556 (GRCm39)	G186R	probably damaging	Het
Rev3l	T	A	10: 39,699,574 (GRCm39)	I1357K	possibly damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,123 (GRCm39)		probably benign	Het
Runx1	T	A	16: 92,441,235 (GRCm39)		probably null	Het
Sapcd1	A	T	17: 35,245,427 (GRCm39)	S119T	possibly damaging	Het
Sema5a	T	A	15: 32,679,332 (GRCm39)	N870K	probably damaging	Het
Serpina3f	G	A	12: 104,183,314 (GRCm39)	E59K	probably benign	Het
Slc8b1	A	G	5: 120,662,352 (GRCm39)	K299E	possibly damaging	Het
Slco1b2	G	A	6: 141,603,283 (GRCm39)	M221I	probably benign	Het
Smg5	C	T	3: 88,263,032 (GRCm39)	Q812*	probably null	Het
Smr3a	T	G	5: 88,155,962 (GRCm39)		probably null	Het
Syt9	G	A	7: 107,103,479 (GRCm39)	D426N	probably damaging	Het
Tcf25	T	C	8: 124,115,374 (GRCm39)	Y204H	probably benign	Het
Tmeff2	T	A	1: 51,018,715 (GRCm39)	C232*	probably null	Het
Tmem184a	C	A	5: 139,793,757 (GRCm39)	G219V	probably null	Het
Tnc	G	T	4: 63,924,485 (GRCm39)	T1071K	possibly damaging	Het
Tnn	C	A	1: 159,948,188 (GRCm39)	G842W	probably damaging	Het
Tshz3	T	A	7: 36,470,615 (GRCm39)	I868N	probably benign	Het
Ulbp1	C	T	10: 7,397,391 (GRCm39)	R238H	probably benign	Het
Ushbp1	C	T	8: 71,847,693 (GRCm39)		probably null	Het
Usp34	G	C	11: 23,438,982 (GRCm39)	D3515H	probably damaging	Het
Wdr91	T	C	6: 34,887,726 (GRCm39)	E10G	probably damaging	Het
Xdh	A	T	17: 74,205,965 (GRCm39)	F1016L	probably benign	Het
Zfp235	T	G	7: 23,841,609 (GRCm39)	I676S	possibly damaging	Het
Zfp619	G	A	7: 39,186,811 (GRCm39)	C947Y	probably damaging	Het
Zfp663	A	G	2: 165,195,731 (GRCm39)	S163P	probably damaging	Het
Zfp93	A	G	7: 23,974,836 (GRCm39)	I274V	probably benign	Het
Zswim4	C	T	8: 84,953,296 (GRCm39)		probably null	Het

Other mutations in Or2g7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01527:Or2g7	APN	17	38,378,986 (GRCm39)	missense	probably benign
IGL02158:Or2g7	APN	17	38,378,158 (GRCm39)	missense	probably damaging	0.97
IGL03172:Or2g7	APN	17	38,378,275 (GRCm39)	missense	probably damaging	0.99
R0389:Or2g7	UTSW	17	38,378,562 (GRCm39)	missense	possibly damaging	0.58
R0448:Or2g7	UTSW	17	38,378,563 (GRCm39)	missense	probably benign	0.00
R0616:Or2g7	UTSW	17	38,378,131 (GRCm39)	missense	probably damaging	1.00
R0961:Or2g7	UTSW	17	38,378,814 (GRCm39)	missense	probably damaging	1.00
R1789:Or2g7	UTSW	17	38,378,839 (GRCm39)	missense	probably damaging	1.00
R2108:Or2g7	UTSW	17	38,378,746 (GRCm39)	missense	possibly damaging	0.82
R4600:Or2g7	UTSW	17	38,378,853 (GRCm39)	missense	probably damaging	0.99
R5120:Or2g7	UTSW	17	38,378,157 (GRCm39)	missense	probably damaging	0.97
R5930:Or2g7	UTSW	17	38,378,641 (GRCm39)	missense	probably benign	0.11
R6273:Or2g7	UTSW	17	38,378,686 (GRCm39)	missense	probably damaging	1.00
R6636:Or2g7	UTSW	17	38,378,115 (GRCm39)	missense	probably damaging	0.98
R6637:Or2g7	UTSW	17	38,378,115 (GRCm39)	missense	probably damaging	0.98
R7030:Or2g7	UTSW	17	38,378,948 (GRCm39)	missense	probably benign	0.13
R7045:Or2g7	UTSW	17	38,378,862 (GRCm39)	missense	probably benign	0.01
R7175:Or2g7	UTSW	17	38,378,370 (GRCm39)	missense	probably damaging	0.96
R7359:Or2g7	UTSW	17	38,378,506 (GRCm39)	nonsense	probably null
R7762:Or2g7	UTSW	17	38,378,566 (GRCm39)	missense	probably damaging	1.00
R7980:Or2g7	UTSW	17	38,378,412 (GRCm39)	missense	possibly damaging	0.64
R8050:Or2g7	UTSW	17	38,378,370 (GRCm39)	missense	probably damaging	1.00
R9035:Or2g7	UTSW	17	38,378,179 (GRCm39)	missense	probably benign	0.00
X0019:Or2g7	UTSW	17	38,378,613 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCTACAGTTATGCACCCACG -3'
(R):5'- GCATAGGAGCTGTTAGGCTG -3'

Sequencing Primer
(F):5'- AGTTATGCACCCACGGCTCTG -3'
(R):5'- GATATAGATAGCAGTGATTGTGCC -3'

Posted On

2016-04-27