Mutagenetix > Incidental Mutation

Incidental Mutation 'R6356:Or5ak23'

512997

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

Accession Numbers

Essential gene?

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

Stock #

R6356 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85244277-85245221 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85245031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 64 (Q64L)

Ref Sequence

ENSEMBL: ENSMUSP00000097510 (fasta)

Gene Model

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

AlphaFold

Q8VF75

Predicted Effect

probably damaging
Transcript: ENSMUST00000099926
AA Change: Q64L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000097510
Gene: ENSMUSG00000075220
AA Change: Q64L

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

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.4%
20x: 91.9%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,161,292 (GRCm39)	S152T	probably benign	Het
Aass	A	G	6: 23,093,901 (GRCm39)	V140A	probably damaging	Het
Add1	A	G	5: 34,776,740 (GRCm39)	N32S	probably null	Het
Agap2	T	C	10: 126,918,865 (GRCm39)	S414P	unknown	Het
Arhgef38	A	G	3: 132,846,638 (GRCm39)	F376L	probably benign	Het
Cd22	A	T	7: 30,577,127 (GRCm39)	I60N	probably damaging	Het
Cdh23	T	A	10: 60,274,626 (GRCm39)	D488V	probably damaging	Het
Cfap251	G	A	5: 123,392,729 (GRCm39)		probably benign	Het
Cox16	T	G	12: 81,519,115 (GRCm39)	D148A	probably damaging	Het
Dclre1b	G	A	3: 103,715,471 (GRCm39)	T9I	probably damaging	Het
Dennd4c	T	C	4: 86,743,686 (GRCm39)	V1176A	probably benign	Het
Echdc1	A	C	10: 29,220,522 (GRCm39)		probably null	Het
Efcab3	A	G	11: 104,784,533 (GRCm39)	K2772E	probably benign	Het
Efnb3	G	A	11: 69,446,966 (GRCm39)	A248V	probably benign	Het
Glud1	A	G	14: 34,033,173 (GRCm39)	R107G	probably benign	Het
Gtf2h4	A	G	17: 35,980,647 (GRCm39)	S279P	probably damaging	Het
Hectd1	A	G	12: 51,791,402 (GRCm39)	C2579R	probably damaging	Het
Igkv15-103	A	G	6: 68,414,441 (GRCm39)		probably benign	Het
Ivl	CCTGCTGCTGCTGCT	CCTGCTGCTGCT	3: 92,479,217 (GRCm39)		probably benign	Het
Krtap5-2	T	C	7: 141,729,119 (GRCm39)		probably benign	Het
Lcn11	G	T	2: 25,668,132 (GRCm39)	G97*	probably null	Het
Lrrtm3	G	A	10: 63,765,943 (GRCm39)	T548M	probably benign	Het
Map3k2	A	T	18: 32,345,023 (GRCm39)	T283S	probably damaging	Het
Mast4	T	C	13: 102,872,493 (GRCm39)	K2292E	possibly damaging	Het
Med23	G	T	10: 24,764,311 (GRCm39)	C98F	probably damaging	Het
Morc1	T	A	16: 48,257,652 (GRCm39)	F26Y	probably damaging	Het
Muc5ac	T	A	7: 141,366,416 (GRCm39)	M2160K	probably benign	Het
Myocd	T	C	11: 65,109,396 (GRCm39)		probably null	Het
Nup160	T	A	2: 90,542,279 (GRCm39)		probably null	Het
Obi1	A	G	14: 104,716,313 (GRCm39)	S687P	probably damaging	Het
Olr1	A	T	6: 129,470,522 (GRCm39)	L215Q	probably benign	Het
Or6c216	T	A	10: 129,678,477 (GRCm39)	S145C	probably benign	Het
Pik3c2a	T	C	7: 115,947,440 (GRCm39)	K1414R	possibly damaging	Het
Ppfibp2	T	C	7: 107,280,976 (GRCm39)	V96A	probably benign	Het
Prim1	T	A	10: 127,859,704 (GRCm39)	Y299N	probably damaging	Het
Rsf1	T	C	7: 97,311,141 (GRCm39)	S624P	probably benign	Het
Samd4b	A	T	7: 28,101,018 (GRCm39)	I687N	probably damaging	Het
Sbf2	A	T	7: 109,971,830 (GRCm39)	F801L	probably damaging	Het
St6gal2	T	C	17: 55,789,014 (GRCm39)	I16T	probably damaging	Het
Tiam2	CGGG	CGGGG	17: 3,464,897 (GRCm39)		probably null	Het
Trim8	T	G	19: 46,503,797 (GRCm39)	S450A	probably benign	Het
Trp53bp2	A	G	1: 182,276,562 (GRCm39)	T848A	probably benign	Het
Vmn2r24	A	G	6: 123,783,368 (GRCm39)	S523G	possibly damaging	Het
Vmn2r52	T	A	7: 9,902,926 (GRCm39)	M501L	probably benign	Het
Vmn2r68	C	T	7: 84,883,048 (GRCm39)	V235M	possibly damaging	Het
Zfhx3	G	A	8: 109,673,251 (GRCm39)	V1434M	probably damaging	Het
Zmym5	A	T	14: 57,031,622 (GRCm39)	N495K	possibly 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
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
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'- AGACTTTTCGGGACATGAGTATG -3'
(R):5'- GAAGTCAAGGGCTTCTATCTCC -3'

Sequencing Primer
(F):5'- GCTACATAGCGGTCCACTG -3'
(R):5'- CTCCTGGGATTTGGAGTCCAAC -3'

Posted On

2018-04-27