Mutagenetix > Incidental Mutation

Incidental Mutation 'R5980:Or5ak23'

481360

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

044162-MU

Accession Numbers

Essential gene?

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

Stock #

R5980 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85244277-85245221 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85244509 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 238 (F238Y)

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: F238Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097510
Gene: ENSMUSG00000075220
AA Change: F238Y

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

96% (50/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,544,018 (GRCm39)	N508D	possibly damaging	Het
Ago1	C	T	4: 126,354,362 (GRCm39)		probably benign	Het
Apol6	A	T	15: 76,935,219 (GRCm39)	T163S	possibly damaging	Het
Arhgap27	T	C	11: 103,247,095 (GRCm39)	T33A	probably benign	Het
Atg7	C	A	6: 114,657,197 (GRCm39)	F132L	possibly damaging	Het
Cep104	C	A	4: 154,072,930 (GRCm39)	A396E	probably benign	Het
Cers4	T	A	8: 4,568,269 (GRCm39)	C107*	probably null	Het
Cntn6	T	C	6: 104,825,093 (GRCm39)	S878P	probably damaging	Het
Dnah6	T	C	6: 73,158,705 (GRCm39)	K633E	probably benign	Het
Dst	T	A	1: 34,221,972 (GRCm39)	I2592K	probably benign	Het
Ep400	G	A	5: 110,881,595 (GRCm39)		probably benign	Het
Fbn1	A	G	2: 125,157,324 (GRCm39)	C2320R	probably damaging	Het
Gpi1	A	G	7: 33,928,351 (GRCm39)		probably null	Het
Gse1	T	G	8: 120,956,376 (GRCm39)		probably benign	Het
Hid1	G	A	11: 115,241,774 (GRCm39)	T612I	possibly damaging	Het
Ighmbp2	G	T	19: 3,315,295 (GRCm39)	H708Q	probably benign	Het
Igkv10-95	T	C	6: 68,657,573 (GRCm39)	S10P	probably damaging	Het
Igkv14-100	T	C	6: 68,496,009 (GRCm39)	V5A	probably benign	Het
Irgq	G	A	7: 24,232,770 (GRCm39)	G204S	probably damaging	Het
Kansl1	T	C	11: 104,234,463 (GRCm39)	K681R	possibly damaging	Het
Kcnv1	C	A	15: 44,972,810 (GRCm39)	V358L	probably damaging	Het
Lrp2	A	T	2: 69,365,349 (GRCm39)	S275T	probably damaging	Het
Lysmd1	A	T	3: 95,045,219 (GRCm39)	D155V	probably damaging	Het
Magel2	A	T	7: 62,030,344 (GRCm39)	I1083F	unknown	Het
Mta3	T	A	17: 84,015,834 (GRCm39)	V12D	probably damaging	Het
Mtmr4	T	C	11: 87,494,977 (GRCm39)	I423T	probably damaging	Het
Mup11	A	G	4: 60,616,887 (GRCm39)	Y16H	possibly damaging	Het
Mycbp	G	A	4: 123,804,889 (GRCm39)	V91I	probably benign	Het
Ngly1	A	C	14: 16,270,509 (GRCm38)	Q72P	possibly damaging	Het
Nol4	T	A	18: 23,085,258 (GRCm39)	Q52L	probably damaging	Het
Nrcam	T	C	12: 44,618,416 (GRCm39)	V808A	probably damaging	Het
Or10p22	A	G	10: 128,826,309 (GRCm39)	H176R	probably damaging	Het
Or8k24	A	T	2: 86,216,141 (GRCm39)	L207*	probably null	Het
Pate10	A	C	9: 35,652,911 (GRCm39)	D51A	probably damaging	Het
Pik3c2b	C	A	1: 133,016,046 (GRCm39)	D869E	probably benign	Het
Pom121l2	T	C	13: 22,167,546 (GRCm39)	S606P	probably damaging	Het
Prdm15	G	A	16: 97,613,770 (GRCm39)	R517*	probably null	Het
Ralgapa1	T	A	12: 55,817,401 (GRCm39)		probably null	Het
Saraf	T	A	8: 34,632,541 (GRCm39)	F207I	probably benign	Het
Sema6d	A	G	2: 124,506,628 (GRCm39)	D874G	probably damaging	Het
Sfrp5	A	T	19: 42,190,411 (GRCm39)	L14M	unknown	Het
Sidt1	A	T	16: 44,083,675 (GRCm39)	C485*	probably null	Het
Sptbn4	A	G	7: 27,071,596 (GRCm39)	Y1618H	probably damaging	Het
Syt14	T	C	1: 192,662,716 (GRCm39)	Q127R	possibly damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Ticrr	G	A	7: 79,310,703 (GRCm39)	A206T	probably damaging	Het
Tmem132d	T	A	5: 127,861,662 (GRCm39)	I820F	probably benign	Het
Trafd1	A	G	5: 121,511,520 (GRCm39)	Y433H	probably damaging	Het
Trim68	A	G	7: 102,328,038 (GRCm39)	V305A	probably damaging	Het
Vmn2r58	T	A	7: 41,514,480 (GRCm39)	Y163F	possibly damaging	Het
Vmn2r83	T	A	10: 79,314,626 (GRCm39)	H291Q	probably benign	Het
Vmn2r95	A	G	17: 18,661,624 (GRCm39)	I457V	probably benign	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
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'- TGTTTCTCAGGCTGTAGATCAGAG -3'
(R):5'- TCTTCAGTACACACAGGCTTTAC -3'

Sequencing Primer
(F):5'- CTCAGGCTGTAGATCAGAGGATTC -3'
(R):5'- CAGTACACACAGGCTTTACATTTTC -3'

Posted On

2017-06-26