Mutagenetix > Incidental Mutation

Incidental Mutation 'R9292:Or11g2'

704352

Institutional Source

Beutler Lab

Gene Symbol

Or11g2

Ensembl Gene

ENSMUSG00000053815

Gene Name

olfactory receptor family 11 subfamily G member 2

Synonyms

MOR106-13P, GA_x6K02T2PMLR-6326342-6327313, Olfr744

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R9292 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50855681-50856652 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50856513 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 278 (V278A)

Ref Sequence

ENSEMBL: ENSMUSP00000149164 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066457] [ENSMUST00000213668] [ENSMUST00000216690]

AlphaFold

Q7TRM0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066457
AA Change: V278A

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000066496
Gene: ENSMUSG00000053815
AA Change: V278A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	312	2.9e-48	PFAM
Pfam:7tm_1	45	294	1.4e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213668
AA Change: V278A

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216690
AA Change: V278A

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.2560

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (58/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	T	5: 8,862,843 (GRCm39)	T175I	probably benign	Het
Acat3	T	C	17: 13,146,255 (GRCm39)	T243A	probably benign	Het
Aebp1	C	A	11: 5,815,260 (GRCm39)	P264Q	possibly damaging	Het
Aldh1l1	T	C	6: 90,568,867 (GRCm39)	F723L	probably damaging	Het
Atp13a4	T	A	16: 29,241,500 (GRCm39)	I723F		Het
Bop1	T	C	15: 76,351,031 (GRCm39)	T97A	probably benign	Het
Casq1	T	C	1: 172,043,114 (GRCm39)	Y194C	probably damaging	Het
Cep250	G	A	2: 155,832,688 (GRCm39)	E1538K	probably damaging	Het
Col12a1	A	T	9: 79,585,805 (GRCm39)	V1218E	probably benign	Het
Coq10b	T	A	1: 55,110,868 (GRCm39)	M212K	probably damaging	Het
Dchs1	T	C	7: 105,403,120 (GRCm39)	T3141A	probably damaging	Het
Dnajc10	A	G	2: 80,176,916 (GRCm39)	T624A	probably benign	Het
Dock8	A	G	19: 25,160,995 (GRCm39)		probably benign	Het
Dsg1c	T	A	18: 20,416,775 (GRCm39)	V892E	probably damaging	Het
Eif4g3	A	G	4: 137,921,382 (GRCm39)	R1370G	possibly damaging	Het
Elmo1	T	G	13: 20,784,429 (GRCm39)		probably null	Het
Erc2	T	A	14: 27,498,799 (GRCm39)	I225N	probably damaging	Het
Ermp1	C	A	19: 29,606,049 (GRCm39)	V422L	probably benign	Het
Fam124b	T	A	1: 80,191,221 (GRCm39)	H54L	probably benign	Het
Gabbr1	T	G	17: 37,366,784 (GRCm39)	I336S	possibly damaging	Het
Galk2	T	C	2: 125,817,218 (GRCm39)	Y336H	probably damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Grm4	A	G	17: 27,692,037 (GRCm39)	F194S	probably damaging	Het
Gtf2a1	G	A	12: 91,534,964 (GRCm39)	Q189*	probably null	Het
Gtf3c1	T	C	7: 125,273,563 (GRCm39)		probably benign	Het
Hspa2	A	G	12: 76,452,047 (GRCm39)	E247G	probably damaging	Het
Lpar1	T	C	4: 58,486,558 (GRCm39)	R238G	probably benign	Het
Ltbp1	C	A	17: 75,583,436 (GRCm39)	S412Y	probably damaging	Het
Nup210	A	C	6: 91,051,235 (GRCm39)	S383A	possibly damaging	Het
Or10j3	C	T	1: 173,031,099 (GRCm39)	P59S	probably damaging	Het
Or8b51	T	A	9: 38,569,071 (GRCm39)	N206Y	probably damaging	Het
Pah	T	A	10: 87,403,218 (GRCm39)	Y198N	probably damaging	Het
Pcdhga4	A	T	18: 37,819,713 (GRCm39)	I421L	probably benign	Het
Pde6b	T	C	5: 108,536,751 (GRCm39)	I149T	probably benign	Het
Peli3	G	A	19: 4,988,117 (GRCm39)	P81L	possibly damaging	Het
Pfdn5	T	C	15: 102,234,883 (GRCm39)	S30P	possibly damaging	Het
Plcb3	A	T	19: 6,942,042 (GRCm39)	L263Q	probably damaging	Het
Pld3	T	C	7: 27,238,879 (GRCm39)	M190V	probably benign	Het
Rab6a	A	G	7: 100,285,963 (GRCm39)	E186G	probably benign	Het
Ralyl	T	A	3: 14,172,312 (GRCm39)	D60E	probably benign	Het
Rtl1	G	A	12: 109,556,673 (GRCm39)	A1722V	possibly damaging	Het
Scarf1	T	C	11: 75,406,006 (GRCm39)	Y97H	probably damaging	Het
Sf3a2	T	A	10: 80,640,560 (GRCm39)	V457E	unknown	Het
Sh2d4b	C	G	14: 40,537,914 (GRCm39)	E403Q	probably damaging	Het
Slc12a7	A	G	13: 73,932,707 (GRCm39)	E65G	possibly damaging	Het
Spink5	T	C	18: 44,148,075 (GRCm39)	V905A	possibly damaging	Het
Spred1	T	C	2: 117,005,832 (GRCm39)	F198S	probably benign	Het
St18	C	A	1: 6,898,106 (GRCm39)	T636K	probably benign	Het
Stag3	T	A	5: 138,299,712 (GRCm39)	D874E	probably benign	Het
Suco	T	C	1: 161,671,574 (GRCm39)	T502A	probably damaging	Het
Swt1	T	C	1: 151,278,787 (GRCm39)	I457V	probably benign	Het
Syne2	G	T	12: 75,997,823 (GRCm39)	C2266F	probably benign	Het
Tcirg1	T	C	19: 3,947,840 (GRCm39)	N532D	probably damaging	Het
Tfdp1	T	A	8: 13,420,580 (GRCm39)	N136K	probably benign	Het
Tmem245	T	C	4: 56,926,173 (GRCm39)		probably benign	Het
Tmem245	T	C	4: 56,937,979 (GRCm39)	I190V	probably benign	Het
Trp53bp1	C	T	2: 121,046,177 (GRCm39)	V1208M	probably damaging	Het
Tulp1	T	A	17: 28,582,738 (GRCm39)	K137*	probably null	Het
Zfp534	A	T	4: 147,759,095 (GRCm39)	C525S	probably damaging	Het

Other mutations in Or11g2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01373:Or11g2	APN	14	50,856,069 (GRCm39)	missense	probably damaging	1.00
IGL02136:Or11g2	APN	14	50,855,708 (GRCm39)	missense	possibly damaging	0.86
IGL02165:Or11g2	APN	14	50,856,468 (GRCm39)	missense	probably damaging	1.00
IGL02207:Or11g2	APN	14	50,856,015 (GRCm39)	missense	probably damaging	1.00
IGL02556:Or11g2	APN	14	50,856,185 (GRCm39)	missense	probably benign	0.01
IGL02710:Or11g2	APN	14	50,856,255 (GRCm39)	missense	probably benign	0.02
R0127:Or11g2	UTSW	14	50,855,789 (GRCm39)	missense	probably benign
R0389:Or11g2	UTSW	14	50,856,036 (GRCm39)	missense	probably damaging	1.00
R0603:Or11g2	UTSW	14	50,855,967 (GRCm39)	missense	probably damaging	1.00
R0927:Or11g2	UTSW	14	50,856,044 (GRCm39)	missense	possibly damaging	0.47
R1477:Or11g2	UTSW	14	50,856,170 (GRCm39)	missense	probably damaging	0.98
R1705:Or11g2	UTSW	14	50,856,579 (GRCm39)	missense	probably benign	0.01
R1800:Or11g2	UTSW	14	50,856,143 (GRCm39)	missense	probably benign	0.01
R1898:Or11g2	UTSW	14	50,856,231 (GRCm39)	missense	probably damaging	1.00
R2244:Or11g2	UTSW	14	50,856,114 (GRCm39)	missense	probably damaging	1.00
R4731:Or11g2	UTSW	14	50,856,026 (GRCm39)	missense	probably benign	0.11
R4732:Or11g2	UTSW	14	50,856,026 (GRCm39)	missense	probably benign	0.11
R4733:Or11g2	UTSW	14	50,856,026 (GRCm39)	missense	probably benign	0.11
R4801:Or11g2	UTSW	14	50,856,479 (GRCm39)	missense	probably benign	0.01
R4802:Or11g2	UTSW	14	50,856,479 (GRCm39)	missense	probably benign	0.01
R5068:Or11g2	UTSW	14	50,856,197 (GRCm39)	missense	probably damaging	1.00
R5069:Or11g2	UTSW	14	50,856,197 (GRCm39)	missense	probably damaging	1.00
R5070:Or11g2	UTSW	14	50,856,197 (GRCm39)	missense	probably damaging	1.00
R5070:Or11g2	UTSW	14	50,855,931 (GRCm39)	missense	probably benign	0.11
R5195:Or11g2	UTSW	14	50,856,243 (GRCm39)	missense	probably damaging	1.00
R6058:Or11g2	UTSW	14	50,856,158 (GRCm39)	missense	probably benign	0.03
R8246:Or11g2	UTSW	14	50,855,841 (GRCm39)	missense	probably benign
R8275:Or11g2	UTSW	14	50,855,868 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATACTCTGGTCCTAGCAGCTG -3'
(R):5'- AGTACCAGGTCAGATGTTTAAAGACC -3'

Sequencing Primer
(F):5'- CTAGCAGCTGTATTGAAGGTCCC -3'
(R):5'- AAACACTTCTGATTTTGGCCAG -3'

Posted On

2022-03-25