Mutagenetix > Incidental Mutation

Incidental Mutation 'R0591:Or5ak23'

55957

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

038781-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.294) question?

Stock #

R0591 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85244277-85245221 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85245034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 63 (L63P)

Ref Sequence

ENSEMBL: ENSMUSP00000097510 (fasta)

Gene Model

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

AlphaFold

Q8VF75

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099926
AA Change: L63P

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097510
Gene: ENSMUSG00000075220
AA Change: L63P

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.7%
3x: 99.2%
10x: 97.7%
20x: 95.3%

Validation Efficiency

100% (62/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	T	3: 137,774,704 (GRCm39)	E1298*	probably null	Het
Aadacl2fm2	C	A	3: 59,659,550 (GRCm39)	Y334*	probably null	Het
Adam19	T	C	11: 46,012,238 (GRCm39)		probably benign	Het
Agt	A	T	8: 125,283,678 (GRCm39)	S480R	possibly damaging	Het
Anapc1	G	T	2: 128,461,252 (GRCm39)	D1769E	probably benign	Het
Aox4	T	C	1: 58,278,261 (GRCm39)		probably benign	Het
Apol9b	G	A	15: 77,619,830 (GRCm39)	V209I	possibly damaging	Het
Appl2	A	T	10: 83,460,509 (GRCm39)	I116K	possibly damaging	Het
BC051665	A	G	13: 60,932,422 (GRCm39)		probably benign	Het
Cactin	G	T	10: 81,159,837 (GRCm39)	E89*	probably null	Het
Carf	G	T	1: 60,165,073 (GRCm39)		probably benign	Het
Ccdc167	A	G	17: 29,924,235 (GRCm39)		probably benign	Het
Ceacam3	G	A	7: 16,885,808 (GRCm39)		probably null	Het
Clca4b	T	A	3: 144,621,353 (GRCm39)	K574*	probably null	Het
Crabp1	T	A	9: 54,672,887 (GRCm39)	I64N	probably damaging	Het
Dgkd	T	A	1: 87,842,826 (GRCm39)	I118N	probably damaging	Het
Dglucy	T	C	12: 100,825,777 (GRCm39)		probably benign	Het
Dock10	C	T	1: 80,518,936 (GRCm39)		probably benign	Het
Ednrb	A	T	14: 104,060,710 (GRCm39)		probably null	Het
Ercc6	T	C	14: 32,279,973 (GRCm39)		probably benign	Het
Golga3	A	C	5: 110,336,609 (GRCm39)	Q416P	probably damaging	Het
Gpr12	A	G	5: 146,520,445 (GRCm39)	V159A	probably benign	Het
Heatr5a	A	T	12: 51,956,884 (GRCm39)		probably benign	Het
Helz2	A	G	2: 180,873,909 (GRCm39)	I2195T	probably damaging	Het
Hikeshi	A	T	7: 89,569,295 (GRCm39)	N76K	possibly damaging	Het
Hsd11b1	T	C	1: 192,911,984 (GRCm39)		probably benign	Het
Iftap	A	T	2: 101,406,462 (GRCm39)	D155E	probably benign	Het
Inhba	A	T	13: 16,201,405 (GRCm39)	K322N	probably damaging	Het
Katnal1	A	T	5: 148,829,326 (GRCm39)	F291L	probably damaging	Het
Kcnj9	T	C	1: 172,150,665 (GRCm39)	E316G	probably damaging	Het
Lrsam1	A	G	2: 32,823,935 (GRCm39)		probably benign	Het
Mcf2l	T	G	8: 13,068,751 (GRCm39)	S1075A	probably benign	Het
Mios	T	C	6: 8,215,470 (GRCm39)	V222A	possibly damaging	Het
Mycbp2	A	T	14: 103,433,827 (GRCm39)		probably benign	Het
Nars1	A	T	18: 64,633,638 (GRCm39)	I544N	probably damaging	Het
Pbrm1	A	G	14: 30,768,387 (GRCm39)		probably benign	Het
Plcb4	A	G	2: 135,796,932 (GRCm39)		probably benign	Het
Pnliprp1	A	G	19: 58,723,138 (GRCm39)	D213G	probably damaging	Het
Psap	A	G	10: 60,136,634 (GRCm39)	N538D	possibly damaging	Het
Ptdss1	A	G	13: 67,120,714 (GRCm39)		probably benign	Het
Rap1b	G	A	10: 117,654,522 (GRCm39)		probably benign	Het
Rhcg	T	A	7: 79,244,520 (GRCm39)		probably benign	Het
Ryr1	G	A	7: 28,804,220 (GRCm39)	T550I	possibly damaging	Het
Samm50	G	A	15: 84,095,369 (GRCm39)	G452R	probably benign	Het
Scin	A	G	12: 40,130,929 (GRCm39)		probably null	Het
Sesn3	T	C	9: 14,219,854 (GRCm39)	L81S	probably damaging	Het
Skint6	A	C	4: 112,715,366 (GRCm39)		probably benign	Het
Slc30a4	A	T	2: 122,527,160 (GRCm39)	L411H	probably damaging	Het
Slc44a5	C	T	3: 153,939,782 (GRCm39)		probably benign	Het
Slc4a3	C	T	1: 75,525,665 (GRCm39)	A255V	probably damaging	Het
Slc9b1	A	G	3: 135,088,593 (GRCm39)	N318S	possibly damaging	Het
Tcp11l2	A	T	10: 84,440,458 (GRCm39)	H287L	probably benign	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tnks2	T	A	19: 36,849,962 (GRCm39)	Y605N	probably damaging	Het
Topbp1	T	A	9: 103,227,037 (GRCm39)	N1490K	probably benign	Het
Ube4b	T	G	4: 149,442,034 (GRCm39)		probably benign	Het
Usp4	G	A	9: 108,225,228 (GRCm39)		probably benign	Het
Vezf1	A	T	11: 88,068,435 (GRCm38)		probably benign	Het
Vmn1r184	A	T	7: 25,966,500 (GRCm39)	D82V	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
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
R2910:Or5ak23	UTSW	2	85,244,695 (GRCm39)	missense	probably damaging	1.00
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'- CGGAATTGTCCGAATGAGGCTGTAAG -3'
(R):5'- TGAAGTCAAGGGCTTCTATCTCCTGG -3'

Sequencing Primer
(F):5'- CTAATAATTGGGGGCACATCAC -3'
(R):5'- CCTGGGATTTGGAGTCCAAC -3'

Posted On

2013-07-11