Mutagenetix > Incidental Mutation

Incidental Mutation 'R1447:Or1ak2'

160681

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

039502-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R1447 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36827133-36828080 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 36827788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 219 (V219G)

Ref Sequence

ENSEMBL: ENSMUSP00000092631 (fasta)

Gene Model

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

AlphaFold

Q8VFP5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095021
AA Change: V219G

PolyPhen 2 Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000092631
Gene: ENSMUSG00000070943
AA Change: V219G

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

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 93.8%
20x: 84.2%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	A	T	15: 11,263,447 (GRCm39)	D603V	probably benign	Het
Ahnak	A	T	19: 8,984,446 (GRCm39)	E1910V	probably damaging	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Amotl1	A	G	9: 14,467,038 (GRCm39)	V704A	probably benign	Het
Ankrd50	A	T	3: 38,509,691 (GRCm39)	V892E	probably damaging	Het
Aoc1	G	A	6: 48,883,176 (GRCm39)	V351I	probably benign	Het
Atp6v1b1	T	C	6: 83,734,924 (GRCm39)	V412A	possibly damaging	Het
Atp8b2	A	T	3: 89,851,477 (GRCm39)	I906N	probably damaging	Het
Bltp1	T	C	3: 37,019,735 (GRCm39)	L2048P	probably damaging	Het
Bnc2	A	G	4: 84,211,457 (GRCm39)	V304A	probably benign	Het
Btaf1	A	G	19: 36,969,854 (GRCm39)	D1176G	probably benign	Het
C1qtnf3	G	A	15: 10,952,735 (GRCm39)	G66R	probably damaging	Het
Ccdc162	T	C	10: 41,456,243 (GRCm39)	E360G	probably damaging	Het
Csmd1	C	A	8: 15,975,306 (GRCm39)	G2968*	probably null	Het
Cyp2j7	A	T	4: 96,083,530 (GRCm39)	F473L	possibly damaging	Het
Ddx24	T	C	12: 103,390,566 (GRCm39)	K142E	possibly damaging	Het
Dnah1	A	T	14: 31,028,855 (GRCm39)	M625K	probably benign	Het
Dnah9	A	T	11: 65,999,308 (GRCm39)	Y944N	possibly damaging	Het
Eef1akmt1	T	A	14: 57,803,441 (GRCm39)	K38*	probably null	Het
Enpp2	C	T	15: 54,782,994 (GRCm39)		probably null	Het
Eps8l1	A	G	7: 4,477,055 (GRCm39)	E508G	probably damaging	Het
Etaa1	A	T	11: 17,896,625 (GRCm39)	D497E	possibly damaging	Het
Fam181b	C	T	7: 92,729,368 (GRCm39)	A47V	probably damaging	Het
Fubp3	T	C	2: 31,490,559 (GRCm39)	V221A	probably damaging	Het
Golga2	T	C	2: 32,187,788 (GRCm39)	V191A	possibly damaging	Het
Haus5	G	T	7: 30,361,216 (GRCm39)		probably null	Het
Hydin	T	C	8: 111,249,798 (GRCm39)	L2247P	probably damaging	Het
Lama5	A	C	2: 179,827,671 (GRCm39)	I2197S	probably damaging	Het
Mapre3	C	T	5: 31,019,151 (GRCm39)		probably benign	Het
Mast2	C	A	4: 116,169,210 (GRCm39)	M733I	probably benign	Het
Mphosph10	A	T	7: 64,030,698 (GRCm39)	F514I	probably damaging	Het
Mterf3	A	G	13: 67,065,103 (GRCm39)	L266P	probably damaging	Het
Nup205	A	G	6: 35,192,120 (GRCm39)	D1114G	probably benign	Het
Or1e21	A	G	11: 73,344,700 (GRCm39)	F113L	probably benign	Het
Phf24	G	T	4: 42,938,232 (GRCm39)	E119*	probably null	Het
Pik3r5	G	A	11: 68,385,003 (GRCm39)	R636Q	probably benign	Het
Plaat3	G	A	19: 7,556,598 (GRCm39)	R133H	probably benign	Het
Rida	T	A	15: 34,488,757 (GRCm39)	Q45L	possibly damaging	Het
Ros1	T	C	10: 51,974,954 (GRCm39)	T1544A	possibly damaging	Het
Rpl7	T	A	1: 16,172,821 (GRCm39)	Y166F	probably benign	Het
Rps6ka5	A	G	12: 100,544,084 (GRCm39)	I338T	probably benign	Het
Scn3a	A	T	2: 65,300,324 (GRCm39)	N1347K	probably damaging	Het
Serpinb6d	A	G	13: 33,854,739 (GRCm39)	D238G	probably benign	Het
Sh3rf2	T	A	18: 42,234,736 (GRCm39)	I173N	probably benign	Het
Smarcc2	T	C	10: 128,305,660 (GRCm39)		probably null	Het
Thoc2l	T	C	5: 104,670,070 (GRCm39)	S1531P	possibly damaging	Het
Thsd4	T	C	9: 59,904,496 (GRCm39)	N567D	probably benign	Het
Tmprss13	C	A	9: 45,239,878 (GRCm39)	P62Q	unknown	Het
Tmprss7	T	C	16: 45,501,033 (GRCm39)	Q256R	probably benign	Het
Tssc4	A	G	7: 142,623,892 (GRCm39)	T67A	probably benign	Het
Tssk5	G	A	15: 76,256,304 (GRCm39)	Q372*	probably null	Het
Usp47	G	T	7: 111,673,775 (GRCm39)		probably null	Het
Utp15	A	G	13: 98,389,386 (GRCm39)	I304T	possibly damaging	Het
Vmn1r35	A	C	6: 66,655,890 (GRCm39)	V93G	probably benign	Het
Zfhx3	A	C	8: 109,675,076 (GRCm39)	Q2042P	probably benign	Het
Zfp532	C	A	18: 65,758,061 (GRCm39)	R665S	probably damaging	Het
Zfp976	G	T	7: 42,262,023 (GRCm39)	P605T	possibly damaging	Het
Zfpl1	A	G	19: 6,132,649 (GRCm39)	V125A	possibly 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
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
R5096:Or1ak2	UTSW	2	36,827,815 (GRCm39)	missense	possibly damaging	0.64
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'- AACCCACATCATTCTGCTGTCTCAG -3'
(R):5'- TGTTCAGGAACCTTCTCAAGGCAC -3'

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

Posted On

2014-03-14