Mutagenetix > Incidental Mutation

Incidental Mutation 'R0619:Or2aj5'

58558

Institutional Source

Beutler Lab

Gene Symbol

Or2aj5

Ensembl Gene

ENSMUSG00000062245

Gene Name

olfactory receptor family 2 subfamily AJ member 5

Synonyms

Olfr170, MOR273-2, GA_x54KRFPKG5P-16052703-16051765

MMRRC Submission

038808-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R0619 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19424475-19425416 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19425022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 132 (Y132F)

Ref Sequence

ENSEMBL: ENSMUSP00000151806 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078603] [ENSMUST00000206562] [ENSMUST00000218837]

AlphaFold

Q8VGL6

Predicted Effect

probably damaging
Transcript: ENSMUST00000078603
AA Change: Y131F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077674
Gene: ENSMUSG00000062245
AA Change: Y131F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	308	1.5e-43	PFAM
Pfam:7tm_1	41	290	2.4e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000206562
AA Change: Y131F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000218837
AA Change: Y132F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.1%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad2	G	A	8: 120,339,739 (GRCm39)	D74N	probably benign	Het
Adgre4	T	A	17: 56,127,679 (GRCm39)	V573D	possibly damaging	Het
Ak7	A	G	12: 105,699,770 (GRCm39)	K230E	probably damaging	Het
Amdhd2	T	C	17: 24,375,562 (GRCm39)	D375G	possibly damaging	Het
Anpep	T	C	7: 79,490,757 (GRCm39)	E253G	probably benign	Het
Bbs7	A	G	3: 36,661,725 (GRCm39)	L158S	probably benign	Het
Bdp1	T	C	13: 100,174,366 (GRCm39)	T2057A	probably benign	Het
C2	G	T	17: 35,091,479 (GRCm39)	H61Q	probably damaging	Het
Ccdc18	A	G	5: 108,328,282 (GRCm39)	K661E	probably benign	Het
Cdh23	C	T	10: 60,269,556 (GRCm39)	V655I	probably damaging	Het
Cep78	T	C	19: 15,956,226 (GRCm39)	T238A	probably damaging	Het
Ces2a	T	A	8: 105,462,742 (GRCm39)	N110K	probably benign	Het
Crat	T	C	2: 30,299,996 (GRCm39)	D128G	probably benign	Het
Dclre1a	A	T	19: 56,533,841 (GRCm39)	M233K	probably benign	Het
Dsg4	T	C	18: 20,594,416 (GRCm39)	V515A	probably benign	Het
Fer1l6	T	C	15: 58,534,784 (GRCm39)		probably null	Het
Fryl	T	C	5: 73,226,074 (GRCm39)	D1863G	probably benign	Het
Fsip2	T	A	2: 82,774,484 (GRCm39)	L57Q	probably damaging	Het
Gnb4	C	T	3: 32,645,356 (GRCm39)	V112I	probably benign	Het
Iqsec1	T	C	6: 90,647,388 (GRCm39)		probably null	Het
Kcnn3	A	C	3: 89,559,337 (GRCm39)	T536P	probably damaging	Het
Kctd3	T	C	1: 188,710,840 (GRCm39)	D441G	probably damaging	Het
Kifc3	G	A	8: 95,829,293 (GRCm39)	T528M	probably benign	Het
Kmt2c	G	A	5: 25,503,914 (GRCm39)	T3798I	probably benign	Het
Map1a	T	A	2: 121,135,736 (GRCm39)	M1946K	probably damaging	Het
Mfhas1	T	A	8: 36,057,829 (GRCm39)	V768E	probably benign	Het
Mroh8	C	A	2: 157,107,001 (GRCm39)	V223F	possibly damaging	Het
Mss51	A	T	14: 20,537,641 (GRCm39)	V30E	probably benign	Het
Mtmr10	G	A	7: 63,970,961 (GRCm39)	R392H	probably benign	Het
Mup3	T	C	4: 62,004,198 (GRCm39)	N105S	probably benign	Het
Myh7b	T	C	2: 155,453,642 (GRCm39)	M22T	probably benign	Het
Or1o2	T	A	17: 37,543,046 (GRCm39)	I72F	possibly damaging	Het
Or5m9	T	A	2: 85,877,655 (GRCm39)	Y276*	probably null	Het
Os9	A	G	10: 126,956,860 (GRCm39)	I43T	probably damaging	Het
Pkhd1l1	T	C	15: 44,347,234 (GRCm39)	L200P	probably damaging	Het
Ptpru	C	T	4: 131,548,198 (GRCm39)	V100M	possibly damaging	Het
Rnf6	G	A	5: 146,147,531 (GRCm39)	R496C	possibly damaging	Het
Rsad1	C	T	11: 94,433,465 (GRCm39)	R407Q	probably damaging	Het
Rspo3	T	C	10: 29,380,633 (GRCm39)	D127G	probably damaging	Het
Sbf2	T	A	7: 109,909,469 (GRCm39)	T1760S	possibly damaging	Het
Sh2d3c	T	A	2: 32,643,037 (GRCm39)	V588E	probably damaging	Het
Siglech	A	T	7: 55,418,910 (GRCm39)	T238S	probably benign	Het
Slc15a2	T	A	16: 36,579,669 (GRCm39)	N328I	probably damaging	Het
Slc16a11	G	T	11: 70,105,858 (GRCm39)	G94C	probably damaging	Het
Stub1	T	C	17: 26,050,296 (GRCm39)		probably null	Het
Tacc2	T	A	7: 130,318,483 (GRCm39)	V40D	probably damaging	Het
Tagln3	C	A	16: 45,544,635 (GRCm39)	R12L	probably damaging	Het
Trappc14	A	G	5: 138,262,088 (GRCm39)		probably benign	Het
Tsen54	A	G	11: 115,705,890 (GRCm39)	E69G	probably damaging	Het
Tsks	A	G	7: 44,600,258 (GRCm39)	E150G	probably damaging	Het
Ubap2l	A	C	3: 89,924,527 (GRCm39)	V680G	probably benign	Het
Usp16	A	T	16: 87,269,052 (GRCm39)	H315L	probably benign	Het
Vav2	A	G	2: 27,186,133 (GRCm39)		probably null	Het
Zfc3h1	T	C	10: 115,256,715 (GRCm39)	F1562L	possibly damaging	Het
Zfp764	C	A	7: 127,005,713 (GRCm39)	V22L	probably benign	Het

Other mutations in Or2aj5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01671:Or2aj5	APN	16	19,424,671 (GRCm39)	missense	probably benign	0.00
IGL02002:Or2aj5	APN	16	19,425,300 (GRCm39)	missense	possibly damaging	0.91
IGL02537:Or2aj5	APN	16	19,424,549 (GRCm39)	missense	probably damaging	1.00
IGL02881:Or2aj5	APN	16	19,425,050 (GRCm39)	missense	probably damaging	1.00
IGL03189:Or2aj5	APN	16	19,425,341 (GRCm39)	missense	probably benign
R0012:Or2aj5	UTSW	16	19,425,190 (GRCm39)	missense	probably benign	0.30
R0764:Or2aj5	UTSW	16	19,425,182 (GRCm39)	missense	probably damaging	1.00
R1387:Or2aj5	UTSW	16	19,424,777 (GRCm39)	missense	probably damaging	1.00
R1430:Or2aj5	UTSW	16	19,424,752 (GRCm39)	missense	probably damaging	1.00
R1503:Or2aj5	UTSW	16	19,425,062 (GRCm39)	missense	probably benign	0.19
R1878:Or2aj5	UTSW	16	19,424,501 (GRCm39)	missense	probably benign
R1989:Or2aj5	UTSW	16	19,425,407 (GRCm39)	missense	probably benign	0.00
R2012:Or2aj5	UTSW	16	19,424,881 (GRCm39)	missense	probably benign	0.22
R3890:Or2aj5	UTSW	16	19,425,205 (GRCm39)	missense	probably damaging	1.00
R3891:Or2aj5	UTSW	16	19,425,205 (GRCm39)	missense	probably damaging	1.00
R5591:Or2aj5	UTSW	16	19,424,608 (GRCm39)	missense	probably damaging	1.00
R6158:Or2aj5	UTSW	16	19,424,675 (GRCm39)	missense	probably damaging	1.00
R6297:Or2aj5	UTSW	16	19,424,680 (GRCm39)	missense	possibly damaging	0.81
R6512:Or2aj5	UTSW	16	19,425,109 (GRCm39)	missense	probably damaging	1.00
R6962:Or2aj5	UTSW	16	19,424,672 (GRCm39)	missense	probably benign	0.00
R7252:Or2aj5	UTSW	16	19,425,249 (GRCm39)	missense	probably damaging	0.99
R7605:Or2aj5	UTSW	16	19,425,022 (GRCm39)	missense	probably damaging	1.00
R7687:Or2aj5	UTSW	16	19,424,485 (GRCm39)	missense	probably benign
R8302:Or2aj5	UTSW	16	19,425,116 (GRCm39)	missense	probably benign	0.05
R8991:Or2aj5	UTSW	16	19,424,511 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTCAACATGGCAGGGACTTCAC -3'
(R):5'- TCCACAGGGATTCTCGACTCCATAC -3'

Sequencing Primer
(F):5'- CTTCACAGAAAAAGTGATCAATGGC -3'
(R):5'- GATTCTCGACTCCATACCCCAATG -3'

Posted On

2013-07-11