Mutagenetix > Incidental Mutation

Incidental Mutation 'R2910:Or5ak23'

261172

Institutional Source

Beutler Lab

Gene Symbol

Or5ak23

Ensembl Gene

ENSMUSG00000075220

Gene Name

olfactory receptor family 5 subfamily AK member 23

Synonyms

MOR203-2, Olfr993, GA_x6K02T2Q125-46891524-46890580

MMRRC Submission

040497-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.299) question?

Stock #

R2910 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85244277-85245221 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85244695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 176 (H176L)

Ref Sequence

ENSEMBL: ENSMUSP00000097510 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099926] [ENSMUST00000213749] [ENSMUST00000214895] [ENSMUST00000215617]

AlphaFold

Q8VF75

Predicted Effect

probably damaging
Transcript: ENSMUST00000099926
AA Change: H176L

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

SMART Domains

Protein: ENSMUSP00000097510
Gene: ENSMUSG00000075220
AA Change: H176L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	3e-51	PFAM
Pfam:7TM_GPCR_Srsx	35	303	1.3e-7	PFAM
Pfam:7tm_1	41	290	2.2e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213749

Predicted Effect

probably benign
Transcript: ENSMUST00000214895

Predicted Effect

probably benign
Transcript: ENSMUST00000215617

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

96% (49/51)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	A	G	16: 20,378,982 (GRCm39)	T645A	probably damaging	Het
Acap1	A	G	11: 69,777,902 (GRCm39)		probably benign	Het
Adgrv1	G	A	13: 81,705,238 (GRCm39)	A1524V	possibly damaging	Het
Agbl1	A	G	7: 76,069,586 (GRCm39)	N121D	probably benign	Het
Ahnak	A	G	19: 8,989,018 (GRCm39)	D3434G	probably damaging	Het
Ankrd11	A	T	8: 123,635,537 (GRCm39)	D32E	probably damaging	Het
Asxl1	T	C	2: 153,242,959 (GRCm39)	S1170P	probably benign	Het
Atp8b3	G	A	10: 80,355,746 (GRCm39)	S1322F	possibly damaging	Het
Car15	G	A	16: 17,656,006 (GRCm39)		probably benign	Het
Cep104	T	A	4: 154,079,884 (GRCm39)		probably null	Het
Cnnm1	A	G	19: 43,458,086 (GRCm39)	I633V	possibly damaging	Het
Cog8	A	T	8: 107,780,853 (GRCm39)	V135E	probably benign	Het
Cts6	A	G	13: 61,344,215 (GRCm39)	V279A	probably damaging	Het
Ddx1	C	T	12: 13,281,441 (GRCm39)		probably null	Het
Dock2	A	G	11: 34,182,910 (GRCm39)		probably benign	Het
Ero1b	T	A	13: 12,615,178 (GRCm39)	D336E	probably damaging	Het
F11	C	G	8: 45,694,486 (GRCm39)	*625S	probably null	Het
F5	A	G	1: 164,032,389 (GRCm39)	M1779V	probably benign	Het
Fam227a	A	T	15: 79,520,935 (GRCm39)	D296E	possibly damaging	Het
Fbxo38	T	C	18: 62,652,878 (GRCm39)	D523G	probably benign	Het
Ggt1	G	A	10: 75,416,430 (GRCm39)	V275M	probably benign	Het
Gm379	A	C	X: 107,708,371 (GRCm39)	F43V	possibly damaging	Het
Grhl3	T	C	4: 135,286,457 (GRCm39)	I75V	probably benign	Het
Iqcm	A	T	8: 76,441,404 (GRCm39)	I226F	probably benign	Het
Kcnq1	T	G	7: 142,979,699 (GRCm39)	L615R	probably damaging	Het
Lcp2	G	A	11: 34,018,970 (GRCm39)		probably null	Het
Lypd8l	G	A	11: 58,499,252 (GRCm39)	Q189*	probably null	Het
Mbtps1	A	G	8: 120,272,776 (GRCm39)	I123T	possibly damaging	Het
Muc5ac	C	T	7: 141,361,378 (GRCm39)	T1563I	probably damaging	Het
Odf2l	A	C	3: 144,830,084 (GRCm39)	I19L	probably benign	Het
Or5h25	C	T	16: 58,930,544 (GRCm39)	R143H	probably benign	Het
Pigr	A	G	1: 130,777,270 (GRCm39)	D692G	probably damaging	Het
Pkd1l3	A	G	8: 110,394,268 (GRCm39)		probably benign	Het
Plekhg4	TAGTCGATGCCCGAGTC	TAGTC	8: 106,103,084 (GRCm39)		probably benign	Het
Reep2	T	C	18: 34,978,743 (GRCm39)		probably null	Het
Rubcnl	C	T	14: 75,278,248 (GRCm39)	T344I	probably benign	Het
Sema6d	C	A	2: 124,506,957 (GRCm39)	P941T	probably damaging	Het
Shcbp1l	C	A	1: 153,304,372 (GRCm39)	L144I	probably damaging	Het
Slc7a1	T	C	5: 148,289,067 (GRCm39)	E60G	probably benign	Het
Snx2	C	T	18: 53,332,946 (GRCm39)	P207S	probably damaging	Het
Spata31	T	G	13: 65,068,250 (GRCm39)	S133A	probably benign	Het
Tac1	A	G	6: 7,559,097 (GRCm39)		probably null	Het
Tfpi	A	C	2: 84,274,437 (GRCm39)	V184G	possibly damaging	Het
Tmeff1	C	A	4: 48,614,961 (GRCm39)	N139K	possibly damaging	Het
Tnxb	A	G	17: 34,891,424 (GRCm39)	D589G	probably damaging	Het
Trpc1	C	A	9: 95,631,895 (GRCm39)	A16S	probably benign	Het
Vmn2r106	A	C	17: 20,498,946 (GRCm39)	L322V	probably damaging	Het
Vmn2r69	G	T	7: 85,055,918 (GRCm39)	A740D	probably damaging	Het

Other mutations in Or5ak23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02428:Or5ak23	APN	2	85,244,537 (GRCm39)	missense	probably benign	0.05
IGL03209:Or5ak23	APN	2	85,244,723 (GRCm39)	missense	probably benign	0.05
BB001:Or5ak23	UTSW	2	85,244,563 (GRCm39)	missense	probably benign	0.06
BB011:Or5ak23	UTSW	2	85,244,563 (GRCm39)	missense	probably benign	0.06
R0591:Or5ak23	UTSW	2	85,245,034 (GRCm39)	missense	possibly damaging	0.95
R1437:Or5ak23	UTSW	2	85,245,218 (GRCm39)	missense	probably benign	0.01
R1836:Or5ak23	UTSW	2	85,244,749 (GRCm39)	missense	probably benign	0.36
R2084:Or5ak23	UTSW	2	85,244,959 (GRCm39)	missense	probably benign	0.01
R2902:Or5ak23	UTSW	2	85,244,396 (GRCm39)	missense	possibly damaging	0.79
R3961:Or5ak23	UTSW	2	85,245,216 (GRCm39)	missense	possibly damaging	0.69
R4542:Or5ak23	UTSW	2	85,244,287 (GRCm39)	missense	probably benign
R4635:Or5ak23	UTSW	2	85,245,208 (GRCm39)	missense	probably damaging	1.00
R5464:Or5ak23	UTSW	2	85,245,057 (GRCm39)	frame shift	probably null
R5980:Or5ak23	UTSW	2	85,244,509 (GRCm39)	missense	probably damaging	1.00
R6139:Or5ak23	UTSW	2	85,244,690 (GRCm39)	missense	probably damaging	1.00
R6356:Or5ak23	UTSW	2	85,245,031 (GRCm39)	missense	probably damaging	1.00
R6619:Or5ak23	UTSW	2	85,244,425 (GRCm39)	missense	probably benign	0.05
R6672:Or5ak23	UTSW	2	85,244,948 (GRCm39)	missense	possibly damaging	0.87
R7326:Or5ak23	UTSW	2	85,244,788 (GRCm39)	missense	probably damaging	0.99
R7328:Or5ak23	UTSW	2	85,244,668 (GRCm39)	missense	probably benign	0.32
R7569:Or5ak23	UTSW	2	85,244,479 (GRCm39)	missense	probably damaging	1.00
R7924:Or5ak23	UTSW	2	85,244,563 (GRCm39)	missense	probably benign	0.06
R9178:Or5ak23	UTSW	2	85,244,848 (GRCm39)	missense	probably damaging	1.00
R9363:Or5ak23	UTSW	2	85,244,993 (GRCm39)	missense	probably damaging	1.00
Z1176:Or5ak23	UTSW	2	85,245,029 (GRCm39)	missense	possibly damaging	0.90
Z1176:Or5ak23	UTSW	2	85,245,007 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATAGAAGATGGTGACTGCTGTC -3'
(R):5'- AGTGGACCGCTATGTAGCCATC -3'

Sequencing Primer
(F):5'- GCACACGTGGAGAAGGTTTTC -3'
(R):5'- GCTATGTAGCCATCTGCAAAC -3'

Posted On

2015-01-23