Mutagenetix > Incidental Mutation

Incidental Mutation 'R8006:Or5ak24'

616610

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

046046-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R8006 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85260227-85266537 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85260318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 285 (N285S)

Ref Sequence

ENSEMBL: ENSMUSP00000149417 (fasta)

Gene Model

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

AlphaFold

Q8VF73

Predicted Effect

probably damaging
Transcript: ENSMUST00000099925
AA Change: N285S

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

SMART Domains

Protein: ENSMUSP00000097509
Gene: ENSMUSG00000075219
AA Change: N285S

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 damaging
Transcript: ENSMUST00000214679
AA Change: N285S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000217218
AA Change: N285S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	T	A	8: 41,248,944 (GRCm39)	H351Q	probably benign	Het
Ahnak	T	C	19: 8,989,447 (GRCm39)	V3577A	possibly damaging	Het
Akap13	T	C	7: 75,229,444 (GRCm39)	S126P	probably damaging	Het
Akip1	A	G	7: 109,303,199 (GRCm39)	D14G	probably damaging	Het
Ankhd1	A	G	18: 36,781,772 (GRCm39)	R287G		Het
Ankrd13a	A	C	5: 114,942,484 (GRCm39)	*589S	probably null	Het
Ankrd34c	T	C	9: 89,611,889 (GRCm39)	I151V	probably damaging	Het
Ano5	T	A	7: 51,243,518 (GRCm39)	D880E	probably benign	Het
Arl3	A	C	19: 46,546,813 (GRCm39)	L4R	probably damaging	Het
Ate1	T	A	7: 130,069,118 (GRCm39)	Q340L	probably damaging	Het
Ccdc38	A	T	10: 93,391,448 (GRCm39)		probably null	Het
Celsr3	C	T	9: 108,706,306 (GRCm39)	P930S	probably damaging	Het
Cfhr4	A	G	1: 139,664,590 (GRCm39)	Y490H	probably damaging	Het
Cox18	C	T	5: 90,371,672 (GRCm39)	V43M	probably damaging	Het
Ctnna3	A	G	10: 63,417,790 (GRCm39)	K176R	probably benign	Het
Fam135b	T	C	15: 71,334,183 (GRCm39)	T1004A	probably benign	Het
Fam227a	A	G	15: 79,518,299 (GRCm39)	I335T	possibly damaging	Het
Gm14496	A	G	2: 181,637,669 (GRCm39)	I248V	probably benign	Het
Gm6871	T	C	7: 41,195,106 (GRCm39)	T544A	probably benign	Het
Grm6	A	T	11: 50,755,484 (GRCm39)	*872L	probably null	Het
Herc1	T	A	9: 66,352,842 (GRCm39)	Y2109*	probably null	Het
Hsd11b2	T	A	8: 106,245,735 (GRCm39)	V80E	possibly damaging	Het
Itgb3	T	C	11: 104,556,322 (GRCm39)	V721A	possibly damaging	Het
Jade1	A	T	3: 41,568,124 (GRCm39)	I731L	probably benign	Het
Khnyn	G	A	14: 56,125,047 (GRCm39)	V434I	probably benign	Het
Lrp1	A	G	10: 127,425,488 (GRCm39)	L714P	probably damaging	Het
Lrrc41	G	A	4: 115,952,085 (GRCm39)	E585K	possibly damaging	Het
Lrrfip1	A	G	1: 91,004,673 (GRCm39)	Y70C	probably damaging	Het
Mex3a	T	A	3: 88,444,393 (GRCm39)	C490S	probably damaging	Het
Mmp27	C	T	9: 7,578,985 (GRCm39)	R387C	probably damaging	Het
Mro	A	T	18: 74,010,577 (GRCm39)	D219V	possibly damaging	Het
Myot	T	A	18: 44,487,904 (GRCm39)	L407Q	probably damaging	Het
Nppa	T	A	4: 148,085,638 (GRCm39)	W82R	probably damaging	Het
Or10g6	T	G	9: 39,933,770 (GRCm39)	L27R	probably damaging	Het
Or52a20	T	A	7: 103,366,532 (GRCm39)	C244S	probably damaging	Het
Phip	T	A	9: 82,772,179 (GRCm39)	I1123L	possibly damaging	Het
Ppip5k2	A	G	1: 97,661,831 (GRCm39)	I695T	probably benign	Het
Ppp1r10	A	T	17: 36,239,158 (GRCm39)	M347L	probably benign	Het
Reln	A	T	5: 22,104,082 (GRCm39)	C3296*	probably null	Het
Semp2l1	T	A	1: 32,586,005 (GRCm39)		probably benign	Het
Slf2	T	A	19: 44,930,756 (GRCm39)	L611Q	probably damaging	Het
Spire1	G	A	18: 67,634,251 (GRCm39)	Q396*	probably null	Het
Taf2	A	G	15: 54,912,097 (GRCm39)	F537L	probably damaging	Het
Tbc1d16	C	T	11: 119,046,898 (GRCm39)	E451K	probably damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tmem267	T	A	13: 120,070,774 (GRCm39)	V143E	probably damaging	Het
Tyw1	C	T	5: 130,296,913 (GRCm39)	R177W	possibly damaging	Het
Vcp	A	T	4: 42,985,993 (GRCm39)	H340Q	probably benign	Het
Vmn2r14	A	T	5: 109,368,324 (GRCm39)	L223M	probably benign	Het
Wnk4	A	G	11: 101,159,182 (GRCm39)	D533G	probably benign	Het
Wwp1	A	T	4: 19,650,174 (GRCm39)	C331S	probably benign	Het
Zik1	A	T	7: 10,224,100 (GRCm39)	C332*	probably null	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
R7089:Or5ak24	UTSW	2	85,260,902 (GRCm39)	missense	probably benign	0.00
R7467:Or5ak24	UTSW	2	85,261,171 (GRCm39)	start codon destroyed	possibly damaging	0.90
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'- TCTAGGGATGAAGAGTCTCTGG -3'
(R):5'- AGATGTCCTCTACTGCAGGGAG -3'

Sequencing Primer
(F):5'- ATGAAGAGTCTCTGGGTATGATTTC -3'
(R):5'- CCTCTACTGCAGGGAGGAAGAAAAC -3'

Posted On

2020-01-23