Mutagenetix > Incidental Mutation

Incidental Mutation 'R7089:Or5ak24'

550059

Institutional Source

Beutler Lab

Gene Symbol

Or5ak24

Ensembl Gene

ENSMUSG00000075219

Gene Name

olfactory receptor family 5 subfamily AK member 24

Synonyms

MOR203-4, GA_x6K02T2Q125-46907515-46906571, Olfr994

MMRRC Submission

045183-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R7089 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85260227-85266537 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85260902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 90 (K90N)

Ref Sequence

ENSEMBL: ENSMUSP00000149417 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099925] [ENSMUST00000214679] [ENSMUST00000217218]

AlphaFold

Q8VF73

Predicted Effect

probably benign
Transcript: ENSMUST00000099925
AA Change: K90N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000097509
Gene: ENSMUSG00000075219
AA Change: K90N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	306	5.1e-48	PFAM
Pfam:7TM_GPCR_Srsx	35	302	3.5e-5	PFAM
Pfam:7tm_1	41	289	8.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214679
AA Change: K90N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000217218
AA Change: K90N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (68/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,226,927 (GRCm39)	V494A	probably benign	Het
1700017B05Rik	A	T	9: 57,166,041 (GRCm39)	L111Q	probably damaging	Het
Adgrf4	T	G	17: 42,977,424 (GRCm39)	I640L	possibly damaging	Het
Afdn	T	G	17: 14,111,074 (GRCm39)		probably null	Het
Ammecr1l	A	T	18: 31,894,877 (GRCm39)		probably benign	Het
Aox1	A	T	1: 58,375,808 (GRCm39)	Y879F	probably benign	Het
Arhgap45	G	A	10: 79,862,181 (GRCm39)		probably null	Het
Arpp21	G	T	9: 111,955,514 (GRCm39)	H542N	probably benign	Het
Ccdc192	C	T	18: 57,725,059 (GRCm39)	T96I	probably benign	Het
Cdt1	G	A	8: 123,298,719 (GRCm39)	R452Q	probably damaging	Het
Clcn7	C	T	17: 25,372,667 (GRCm39)	H149Y		Het
Clpp	T	G	17: 57,297,421 (GRCm39)	W32G	probably benign	Het
Dnmt1	G	T	9: 20,819,785 (GRCm39)	L1572M	probably damaging	Het
Drd3	G	T	16: 43,627,741 (GRCm39)	R128S	probably damaging	Het
Elmo2	A	T	2: 165,146,849 (GRCm39)	F243I	possibly damaging	Het
Endou	G	A	15: 97,618,126 (GRCm39)	P128L	probably benign	Het
Fat3	A	G	9: 15,908,214 (GRCm39)	M2596T	probably benign	Het
Fbxl16	A	G	17: 26,035,703 (GRCm39)	K100R	probably benign	Het
Fbxo10	A	G	4: 45,062,230 (GRCm39)	S99P	possibly damaging	Het
Fez1	A	T	9: 36,778,999 (GRCm39)	R225S	probably benign	Het
Gm14326	A	T	2: 177,588,464 (GRCm39)	H177Q	probably damaging	Het
Gm32742	T	A	9: 51,054,546 (GRCm39)	M1360L	probably benign	Het
Hspg2	T	C	4: 137,271,677 (GRCm39)	V2481A	possibly damaging	Het
Ifnl3	A	G	7: 28,223,283 (GRCm39)	K101E	probably benign	Het
Il15	A	T	8: 83,064,204 (GRCm39)	S77R	probably damaging	Het
Ints13	T	C	6: 146,476,216 (GRCm39)	D95G	probably damaging	Het
Kcmf1	G	A	6: 72,819,929 (GRCm39)	P357S	probably benign	Het
Kcmf1	G	T	6: 72,825,289 (GRCm39)	T268K	probably benign	Het
Kmt2d	A	T	15: 98,748,153 (GRCm39)	I3057N	unknown	Het
Lgi2	A	G	5: 52,695,832 (GRCm39)	F376L	probably damaging	Het
Lrig3	T	G	10: 125,832,993 (GRCm39)	L289R	probably damaging	Het
Mafk	A	G	5: 139,785,876 (GRCm39)	S25G	probably benign	Het
Mpz	T	C	1: 170,987,204 (GRCm39)		probably null	Het
Nalcn	A	C	14: 123,515,761 (GRCm39)	I1680R	probably benign	Het
Or13d1	C	T	4: 52,971,470 (GRCm39)	P283L	probably damaging	Het
Or5g26	C	T	2: 85,494,518 (GRCm39)	V87M	possibly damaging	Het
Or5p62	A	T	7: 107,771,701 (GRCm39)	N83K	probably benign	Het
Otof	A	C	5: 30,528,912 (GRCm39)	I1827S	possibly damaging	Het
Oxgr1	A	G	14: 120,259,614 (GRCm39)	Y198H	probably damaging	Het
P3h2	T	A	16: 25,784,559 (GRCm39)	N645I	probably damaging	Het
Pbld2	A	G	10: 62,889,691 (GRCm39)	T158A	probably benign	Het
Pdgfrb	C	T	18: 61,206,315 (GRCm39)	R608C	probably damaging	Het
Pdia5	T	C	16: 35,228,049 (GRCm39)	T408A	probably benign	Het
Pik3cg	A	G	12: 32,226,845 (GRCm39)	V1014A	probably benign	Het
Prpf8	A	G	11: 75,399,374 (GRCm39)	T2180A	probably damaging	Het
Rabgap1l	A	T	1: 160,551,742 (GRCm39)	Y245*	probably null	Het
Rerg	T	C	6: 137,044,033 (GRCm39)	T28A	possibly damaging	Het
Rhcg	A	G	7: 79,249,216 (GRCm39)	I335T	probably damaging	Het
Rmnd1	C	T	10: 4,353,873 (GRCm39)	V78I	probably damaging	Het
Ryr2	A	C	13: 11,664,662 (GRCm39)	V3547G	probably benign	Het
Scnn1a	C	A	6: 125,314,770 (GRCm39)	Q324K	probably benign	Het
Serpinb6e	G	A	13: 34,016,698 (GRCm39)	T345I	probably damaging	Het
Smchd1	T	C	17: 71,668,955 (GRCm39)	T1687A	probably benign	Het
Smim45	A	T	15: 82,136,774 (GRCm39)		probably benign	Het
Speer4f2	A	C	5: 17,581,661 (GRCm39)	H201P		Het
Spef2	G	A	15: 9,725,257 (GRCm39)	R167C	probably damaging	Het
Srp68	A	G	11: 116,162,733 (GRCm39)		probably null	Het
Tbc1d14	A	T	5: 36,669,884 (GRCm39)	F455I	probably benign	Het
Tet3	A	G	6: 83,432,006 (GRCm39)	V10A	possibly damaging	Het
Tlr3	A	T	8: 45,850,810 (GRCm39)	S696T	probably benign	Het
Tmem63b	T	C	17: 45,978,709 (GRCm39)	N300S	probably benign	Het
Tmprss11g	T	C	5: 86,637,150 (GRCm39)	I328M	probably damaging	Het
Tpm3	C	T	3: 89,980,029 (GRCm39)		probably benign	Het
Trim28	T	A	7: 12,758,833 (GRCm39)	L63Q	probably damaging	Het
Unc5b	G	A	10: 60,613,265 (GRCm39)	R324C	probably damaging	Het
Vmn1r236	T	A	17: 21,507,204 (GRCm39)	N107K	possibly damaging	Het
Vmn2r88	A	G	14: 51,656,100 (GRCm39)	T770A		Het
Zcchc2	C	A	1: 105,958,211 (GRCm39)	P894Q	probably damaging	Het
Zfhx2	A	G	14: 55,303,229 (GRCm39)	V1585A	probably benign	Het

Other mutations in Or5ak24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01140:Or5ak24	APN	2	85,260,484 (GRCm39)	missense	probably benign	0.00
IGL01325:Or5ak24	APN	2	85,260,639 (GRCm39)	missense	possibly damaging	0.60
IGL01634:Or5ak24	APN	2	85,260,783 (GRCm39)	missense	probably damaging	1.00
IGL01809:Or5ak24	APN	2	85,260,498 (GRCm39)	missense	probably damaging	1.00
IGL02586:Or5ak24	APN	2	85,260,810 (GRCm39)	missense	possibly damaging	0.80
IGL02711:Or5ak24	APN	2	85,261,083 (GRCm39)	missense	probably damaging	0.97
R0010:Or5ak24	UTSW	2	85,260,239 (GRCm39)	missense	probably benign
R0578:Or5ak24	UTSW	2	85,261,017 (GRCm39)	missense	probably benign	0.03
R0848:Or5ak24	UTSW	2	85,260,365 (GRCm39)	missense	probably benign	0.03
R1844:Or5ak24	UTSW	2	85,260,265 (GRCm39)	missense	probably benign	0.03
R1912:Or5ak24	UTSW	2	85,260,604 (GRCm39)	missense	probably damaging	0.97
R1959:Or5ak24	UTSW	2	85,260,963 (GRCm39)	missense	probably damaging	1.00
R2014:Or5ak24	UTSW	2	85,260,696 (GRCm39)	missense	possibly damaging	0.89
R2113:Or5ak24	UTSW	2	85,260,430 (GRCm39)	missense	probably damaging	1.00
R2290:Or5ak24	UTSW	2	85,260,544 (GRCm39)	missense	possibly damaging	0.64
R3622:Or5ak24	UTSW	2	85,260,837 (GRCm39)	missense	probably benign	0.12
R3918:Or5ak24	UTSW	2	85,261,074 (GRCm39)	missense	possibly damaging	0.64
R4175:Or5ak24	UTSW	2	85,260,962 (GRCm39)	missense	probably damaging	1.00
R4945:Or5ak24	UTSW	2	85,260,895 (GRCm39)	missense	probably benign	0.03
R6132:Or5ak24	UTSW	2	85,260,490 (GRCm39)	missense	probably benign	0.06
R6439:Or5ak24	UTSW	2	85,261,068 (GRCm39)	missense	probably damaging	1.00
R6713:Or5ak24	UTSW	2	85,260,883 (GRCm39)	missense	probably damaging	1.00
R7065:Or5ak24	UTSW	2	85,260,523 (GRCm39)	missense	probably damaging	1.00
R7467:Or5ak24	UTSW	2	85,261,171 (GRCm39)	start codon destroyed	possibly damaging	0.90
R8006:Or5ak24	UTSW	2	85,260,318 (GRCm39)	missense	probably damaging	1.00
R8021:Or5ak24	UTSW	2	85,260,996 (GRCm39)	missense	probably damaging	0.98
R8302:Or5ak24	UTSW	2	85,260,430 (GRCm39)	missense	possibly damaging	0.74
R8468:Or5ak24	UTSW	2	85,260,522 (GRCm39)	missense	probably damaging	1.00
R9085:Or5ak24	UTSW	2	85,260,619 (GRCm39)	missense	probably benign	0.00
R9407:Or5ak24	UTSW	2	85,261,060 (GRCm39)	missense	probably damaging	0.98
R9559:Or5ak24	UTSW	2	85,260,753 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- TTTGATGCACAGAAGGACAGTG -3'
(R):5'- ATGTGACATCCATGGTGGG -3'

Sequencing Primer
(F):5'- TTGATCCCATGAGATAAGAAACAGC -3'
(R):5'- GCAACACTGGGATGATCCTC -3'

Posted On

2019-05-15