Mutagenetix > Incidental Mutation

Incidental Mutation 'R5096:Or1ak2'

388020

Institutional Source

Beutler Lab

Gene Symbol

Or1ak2

Ensembl Gene

ENSMUSG00000070943

Gene Name

olfactory receptor family 1 subfamily AK member 2

Synonyms

Olfr356, GA_x6K02T2NLDC-33631647-33632594, MOR134-1

MMRRC Submission

042685-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R5096 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36827133-36828080 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36827815 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 228 (V228A)

Ref Sequence

ENSEMBL: ENSMUSP00000092631 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095021]

AlphaFold

Q8VFP5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095021
AA Change: V228A

PolyPhen 2 Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000092631
Gene: ENSMUSG00000070943
AA Change: V228A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.1e-52	PFAM
Pfam:7tm_1	41	290	4.9e-19	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.6%

Validation Efficiency

95% (61/64)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	A	T	14: 54,916,679 (GRCm39)		probably benign	Het
Adar	T	A	3: 89,654,598 (GRCm39)	*728C	probably null	Het
Ap3b1	A	G	13: 94,616,357 (GRCm39)	R753G	unknown	Het
Atp9b	C	T	18: 80,805,399 (GRCm39)	V720I	probably benign	Het
AY358078	A	C	14: 52,063,575 (GRCm39)	D407A	probably benign	Het
Ccdc185	A	G	1: 182,576,354 (GRCm39)	S112P	possibly damaging	Het
Cir1	A	G	2: 73,134,105 (GRCm39)	S155P	probably damaging	Het
Colq	C	T	14: 31,274,911 (GRCm39)	E76K	possibly damaging	Het
Cthrc1	T	A	15: 38,947,815 (GRCm39)	I104N	probably damaging	Het
D930020B18Rik	A	T	10: 121,503,709 (GRCm39)	I92L	probably benign	Het
Eif3i	C	T	4: 129,494,237 (GRCm39)	E21K	probably damaging	Het
Fam114a1	T	A	5: 65,137,234 (GRCm39)	M59K	probably benign	Het
Fam163b	A	G	2: 27,002,761 (GRCm39)	S79P	probably benign	Het
Fam181b	T	G	7: 92,730,452 (GRCm39)		probably benign	Het
Fsip2	G	A	2: 82,821,460 (GRCm39)	S5731N	probably benign	Het
Fzd9	C	T	5: 135,278,713 (GRCm39)	V391I	probably damaging	Het
Gbp5	A	G	3: 142,207,122 (GRCm39)	D97G	probably damaging	Het
Gm10715	T	C	9: 3,038,157 (GRCm39)		probably benign	Het
Grhl1	A	T	12: 24,653,049 (GRCm39)	K418M	probably damaging	Het
H2-Q4	T	A	17: 35,598,689 (GRCm39)		probably benign	Het
Hmcn1	C	A	1: 150,486,420 (GRCm39)	A4329S	probably damaging	Het
Hspa8	T	C	9: 40,714,197 (GRCm39)		probably benign	Het
Ica1l	T	C	1: 60,067,313 (GRCm39)	T26A	possibly damaging	Het
Ifi209	T	A	1: 173,472,300 (GRCm39)	N380K	probably benign	Het
Inpp5e	G	T	2: 26,289,537 (GRCm39)	N482K	probably damaging	Het
Iqsec3	C	T	6: 121,363,657 (GRCm39)	V866M	probably damaging	Het
Kbtbd2	A	G	6: 56,756,260 (GRCm39)	V492A	probably benign	Het
Kcnb2	A	G	1: 15,781,068 (GRCm39)	R647G	probably benign	Het
Lcmt1	T	G	7: 123,000,691 (GRCm39)	V75G	probably damaging	Het
Lrp4	A	G	2: 91,316,137 (GRCm39)	I752V	possibly damaging	Het
Mmp17	C	A	5: 129,682,627 (GRCm39)	P422Q	probably damaging	Het
Myo3a	A	T	2: 22,464,254 (GRCm39)	H165L	probably benign	Het
Nos3	C	T	5: 24,576,955 (GRCm39)	T494I	probably damaging	Het
Or4p22	C	T	2: 88,317,646 (GRCm39)	T190I	possibly damaging	Het
Or51q1c	T	C	7: 103,652,667 (GRCm39)	Y68H	probably benign	Het
Or8u8	A	G	2: 86,012,276 (GRCm39)	Y60H	probably damaging	Het
Pkn2	A	C	3: 142,545,092 (GRCm39)	V27G	probably damaging	Het
Scube2	T	C	7: 109,398,451 (GRCm39)		probably benign	Het
Skint7	A	G	4: 111,839,152 (GRCm39)	I149V	probably damaging	Het
Smc4	T	A	3: 68,928,612 (GRCm39)	I412K	probably damaging	Het
Snx19	T	A	9: 30,340,082 (GRCm39)	C407S	probably benign	Het
Speer3	C	G	5: 13,846,394 (GRCm39)	A238G	possibly damaging	Het
Sytl2	T	A	7: 90,025,290 (GRCm39)	I426N	possibly damaging	Het
Tbce	A	T	13: 14,203,990 (GRCm39)		probably benign	Het
Tdpoz2	T	C	3: 93,559,819 (GRCm39)	E51G	possibly damaging	Het
Tmem221	A	G	8: 72,011,353 (GRCm39)	L34P	probably damaging	Het
Tmem92	T	C	11: 94,669,862 (GRCm39)	T90A	probably benign	Het
Tpr	A	G	1: 150,321,953 (GRCm39)	D42G	probably damaging	Het
Wt1	A	G	2: 104,973,470 (GRCm39)	T237A	probably damaging	Het

Other mutations in Or1ak2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02209:Or1ak2	APN	2	36,827,517 (GRCm39)	missense	probably damaging	1.00
IGL02457:Or1ak2	APN	2	36,827,760 (GRCm39)	missense	probably damaging	0.99
IGL02933:Or1ak2	APN	2	36,827,310 (GRCm39)	missense	probably damaging	1.00
IGL03304:Or1ak2	APN	2	36,827,560 (GRCm39)	missense	probably damaging	0.99
IGL03350:Or1ak2	APN	2	36,827,595 (GRCm39)	missense	probably damaging	1.00
IGL03050:Or1ak2	UTSW	2	36,827,635 (GRCm39)	missense	probably damaging	0.99
R0124:Or1ak2	UTSW	2	36,827,268 (GRCm39)	missense	possibly damaging	0.80
R1447:Or1ak2	UTSW	2	36,827,788 (GRCm39)	missense	possibly damaging	0.54
R1591:Or1ak2	UTSW	2	36,827,990 (GRCm39)	missense	probably damaging	1.00
R1651:Or1ak2	UTSW	2	36,827,335 (GRCm39)	missense	probably damaging	0.99
R1689:Or1ak2	UTSW	2	36,827,989 (GRCm39)	missense	probably damaging	1.00
R1876:Or1ak2	UTSW	2	36,827,775 (GRCm39)	missense	possibly damaging	0.80
R2132:Or1ak2	UTSW	2	36,827,704 (GRCm39)	missense	probably benign	0.00
R2308:Or1ak2	UTSW	2	36,827,312 (GRCm39)	nonsense	probably null
R3004:Or1ak2	UTSW	2	36,827,221 (GRCm39)	missense	possibly damaging	0.64
R4180:Or1ak2	UTSW	2	36,827,242 (GRCm39)	missense	probably damaging	0.98
R4445:Or1ak2	UTSW	2	36,827,563 (GRCm39)	missense	probably damaging	0.99
R5971:Or1ak2	UTSW	2	36,827,241 (GRCm39)	missense	probably benign	0.01
R5988:Or1ak2	UTSW	2	36,827,236 (GRCm39)	missense	probably damaging	1.00
R6138:Or1ak2	UTSW	2	36,827,241 (GRCm39)	missense	probably benign	0.01
R6544:Or1ak2	UTSW	2	36,827,539 (GRCm39)	missense	possibly damaging	0.68
R7206:Or1ak2	UTSW	2	36,827,784 (GRCm39)	missense	probably damaging	1.00
R7752:Or1ak2	UTSW	2	36,827,630 (GRCm39)	missense	probably damaging	0.98
R7854:Or1ak2	UTSW	2	36,828,036 (GRCm39)	missense	probably benign
R8110:Or1ak2	UTSW	2	36,827,721 (GRCm39)	missense	possibly damaging	0.80
R9088:Or1ak2	UTSW	2	36,827,988 (GRCm39)	missense	probably damaging	1.00
R9223:Or1ak2	UTSW	2	36,827,911 (GRCm39)	missense	probably damaging	1.00
R9630:Or1ak2	UTSW	2	36,827,653 (GRCm39)	missense	probably damaging	0.99
U15987:Or1ak2	UTSW	2	36,827,241 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTGCATGGACAACATCATTCTCC -3'
(R):5'- GGAGGTTGCAGCAAAATTTTG -3'

Sequencing Primer
(F):5'- GCATGGACAACATCATTCTCCATTTC -3'
(R):5'- CTCAGGCTATAGATGAATGGGTTCAG -3'

Posted On

2016-06-06