Mutagenetix > Incidental Mutation

Incidental Mutation 'R9223:Or1ak2'

699574

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

068959-MU

Accession Numbers

Essential gene?

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

Stock #

R9223 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36827133-36828080 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36827911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 260 (F260S)

Ref Sequence

ENSEMBL: ENSMUSP00000092631 (fasta)

Gene Model

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

AlphaFold

Q8VFP5

Predicted Effect

probably damaging
Transcript: ENSMUST00000095021
AA Change: F260S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092631
Gene: ENSMUSG00000070943
AA Change: F260S

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	C	A	9: 101,820,193 (GRCm39)	D204E	possibly damaging	Het
Aldh3a2	A	G	11: 61,156,037 (GRCm39)	S80P	probably benign	Het
Bcl6b	A	T	11: 70,117,400 (GRCm39)	Y407*	probably null	Het
Ccn2	T	C	10: 24,471,856 (GRCm39)	V49A	probably benign	Het
Cel	TTA	TTATA	2: 28,449,441 (GRCm39)		probably null	Het
Cerkl	A	T	2: 79,171,674 (GRCm39)	C395S	probably damaging	Het
Chst5	C	A	8: 112,617,492 (GRCm39)	V43L	probably benign	Het
Clip1	A	T	5: 123,784,337 (GRCm39)	F271I	probably damaging	Het
Clspn	A	G	4: 126,484,411 (GRCm39)	T1190A	possibly damaging	Het
Col20a1	A	T	2: 180,648,528 (GRCm39)	E938D	probably damaging	Het
Dmrta2	G	A	4: 109,839,779 (GRCm39)	V509M	probably damaging	Het
Dnah7b	T	A	1: 46,361,420 (GRCm39)	M3440K	probably benign	Het
Erlin1	A	G	19: 44,029,184 (GRCm39)		probably null	Het
Fam24b	A	G	7: 130,927,869 (GRCm39)	S107P	probably benign	Het
Fancm	T	A	12: 65,149,358 (GRCm39)	I708N	probably benign	Het
Fbxo11	A	T	17: 88,323,124 (GRCm39)	D12E		Het
Fbxw13	T	C	9: 109,024,116 (GRCm39)	D39G	probably damaging	Het
Gabrb3	T	G	7: 57,466,152 (GRCm39)	L322R	probably damaging	Het
Gm5239	A	T	18: 35,669,672 (GRCm39)	I13F	possibly damaging	Het
Heatr1	A	G	13: 12,419,802 (GRCm39)	Y375C	probably benign	Het
Helq	A	T	5: 100,946,303 (GRCm39)	S13T	possibly damaging	Het
Helz	A	G	11: 107,509,918 (GRCm39)	T514A	probably benign	Het
Hook3	A	G	8: 26,522,552 (GRCm39)	V32A		Het
Htra4	A	G	8: 25,527,048 (GRCm39)	I249T	possibly damaging	Het
Htt	G	T	5: 35,062,692 (GRCm39)	V2809L	probably benign	Het
Ifi203	T	A	1: 173,765,437 (GRCm39)	I46F	probably benign	Het
Kcna2	A	T	3: 107,012,306 (GRCm39)	I296F	possibly damaging	Het
Kndc1	A	G	7: 139,501,357 (GRCm39)	E882G	possibly damaging	Het
Krtap16-1	A	T	11: 99,876,071 (GRCm39)	D444E	probably benign	Het
Lrrtm3	ATTTT	ATTTTT	10: 63,925,035 (GRCm39)		probably null	Het
Mdga2	C	T	12: 66,615,634 (GRCm39)	D658N	possibly damaging	Het
Mkrn1	T	C	6: 39,378,183 (GRCm39)	K316R	possibly damaging	Het
Mmd2	C	T	5: 142,553,666 (GRCm39)	C165Y	probably damaging	Het
Mpdz	A	G	4: 81,202,867 (GRCm39)	F1843L	probably damaging	Het
Mrc2	G	A	11: 105,220,093 (GRCm39)	R338Q	probably damaging	Het
Naip5	C	T	13: 100,364,184 (GRCm39)	R372H	probably benign	Het
Nav2	C	A	7: 49,202,599 (GRCm39)	S1461Y	probably damaging	Het
Nol8	T	A	13: 49,814,738 (GRCm39)	V282D	possibly damaging	Het
Nup98	C	A	7: 101,834,167 (GRCm39)	G265V	possibly damaging	Het
Or2d3b	A	G	7: 106,513,980 (GRCm39)	T192A	possibly damaging	Het
Or2h15	C	T	17: 38,442,012 (GRCm39)	E24K	possibly damaging	Het
Or4f58	T	A	2: 111,851,517 (GRCm39)	K227N	possibly damaging	Het
Or4f62	T	A	2: 111,986,473 (GRCm39)	M59K	possibly damaging	Het
Or8k18	G	T	2: 86,085,544 (GRCm39)	F164L	possibly damaging	Het
Otogl	T	A	10: 107,690,205 (GRCm39)	E888D	probably damaging	Het
Pcdhgc4	A	G	18: 37,948,685 (GRCm39)	I34V	possibly damaging	Het
Ppp1r12b	T	C	1: 134,807,376 (GRCm39)	R417G	probably benign	Het
Rtn4	A	G	11: 29,656,778 (GRCm39)	S311G	probably benign	Het
Serinc3	A	G	2: 163,478,812 (GRCm39)	V105A	probably benign	Het
Serpina3f	A	G	12: 104,183,444 (GRCm39)	D102G	possibly damaging	Het
Sik3	A	G	9: 46,066,772 (GRCm39)	I184V	probably damaging	Het
Spopfm2	A	C	3: 94,082,950 (GRCm39)	L287R	probably damaging	Het
Tex35	A	T	1: 156,935,436 (GRCm39)	C21S	probably benign	Het
Tfap2b	T	C	1: 19,282,649 (GRCm39)		probably null	Het
Thbs4	C	T	13: 92,897,998 (GRCm39)	C607Y	probably damaging	Het
Tmem144	A	T	3: 79,734,964 (GRCm39)	N151K	probably benign	Het
Tomm70a	T	A	16: 56,963,166 (GRCm39)	M395K	probably benign	Het
Trim43b	A	C	9: 88,967,663 (GRCm39)	H324Q	probably benign	Het
Vmn2r116	A	T	17: 23,620,141 (GRCm39)	Y625F	probably damaging	Het
Yipf3	A	T	17: 46,559,798 (GRCm39)	N38I	probably damaging	Het
Zfp804b	T	A	5: 6,821,496 (GRCm39)	E522D	probably benign	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
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
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'- TATGCCAACCAGTGTGTGCTG -3'
(R):5'- GATTTCCCTTGAATTCCACAAAGG -3'

Sequencing Primer
(F):5'- CTCTACTGGGGAGGAGCATTAACTG -3'
(R):5'- CCACAAAGGATGTATTTAGCTTTGTG -3'

Posted On

2022-02-07