Mutagenetix > Incidental Mutation

Incidental Mutation 'R0578:Or5ak24'

56289

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

038768-MU

Accession Numbers

Essential gene?

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

Stock #

R0578 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85260227-85266537 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85261017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 52 (D52G)

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: D52G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000097509
Gene: ENSMUSG00000075219
AA Change: D52G

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: D52G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215758

Predicted Effect

probably benign
Transcript: ENSMUST00000217218
AA Change: D52G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.0%

Validation Efficiency

100% (53/53)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,943,556 (GRCm39)	Y56C	possibly damaging	Het
Abca5	A	T	11: 110,167,315 (GRCm39)	C1500*	probably null	Het
Acr	C	G	15: 89,453,678 (GRCm39)	H72Q	probably damaging	Het
Adam18	T	C	8: 25,131,863 (GRCm39)	D416G	possibly damaging	Het
Afap1l2	T	A	19: 56,904,214 (GRCm39)	Y691F	probably benign	Het
Akna	A	G	4: 63,289,147 (GRCm39)	S1259P	probably benign	Het
Atad2	G	A	15: 57,968,964 (GRCm39)	T525I	probably damaging	Het
Atp2a1	T	G	7: 126,049,315 (GRCm39)	M576L	probably benign	Het
B4galt6	T	C	18: 20,861,013 (GRCm39)		probably benign	Het
Best3	A	G	10: 116,844,904 (GRCm39)	D353G	probably benign	Het
Btg3	A	T	16: 78,161,834 (GRCm39)	D125E	probably benign	Het
Cabin1	A	T	10: 75,549,444 (GRCm39)	D1320E	probably damaging	Het
Cachd1	A	C	4: 100,852,039 (GRCm39)		probably benign	Het
Cad	T	C	5: 31,216,120 (GRCm39)	V151A	probably benign	Het
Capns1	A	T	7: 29,893,453 (GRCm39)		probably benign	Het
Catsperg2	T	A	7: 29,404,116 (GRCm39)	T860S	possibly damaging	Het
Ccdc61	T	C	7: 18,637,400 (GRCm39)	T76A	probably benign	Het
Cdipt	T	A	7: 126,578,702 (GRCm39)		probably null	Het
Cyp2d12	G	A	15: 82,440,584 (GRCm39)		probably benign	Het
Dennd4c	C	A	4: 86,730,659 (GRCm39)	P852Q	probably damaging	Het
Dsg2	G	A	18: 20,727,291 (GRCm39)	V613I	probably benign	Het
Dusp16	G	C	6: 134,695,284 (GRCm39)	L516V	probably damaging	Het
Eif2ak4	T	G	2: 118,305,472 (GRCm39)		probably benign	Het
Faf2	C	T	13: 54,769,658 (GRCm39)	A2V	possibly damaging	Het
Gas2l3	A	G	10: 89,252,937 (GRCm39)	I236T	probably damaging	Het
Gm6605	C	A	7: 38,147,699 (GRCm39)		noncoding transcript	Het
Got1	G	T	19: 43,504,222 (GRCm39)	S66R	probably benign	Het
Gpr149	T	A	3: 62,510,110 (GRCm39)	H335L	possibly damaging	Het
Hadhb	A	G	5: 30,383,804 (GRCm39)	I342M	probably benign	Het
Helz	T	A	11: 107,577,226 (GRCm39)	V1859D	unknown	Het
Htr1a	T	A	13: 105,581,595 (GRCm39)	N278K	probably damaging	Het
Inppl1	T	C	7: 101,480,795 (GRCm39)	E355G	probably damaging	Het
Isl2	A	G	9: 55,452,319 (GRCm39)	Y297C	probably damaging	Het
Kat7	T	C	11: 95,182,350 (GRCm39)	H250R	probably benign	Het
Klhl30	A	T	1: 91,282,074 (GRCm39)	D225V	probably benign	Het
Mtch2	T	C	2: 90,683,174 (GRCm39)		probably benign	Het
Muc4	C	A	16: 32,755,690 (GRCm38)		probably benign	Het
Ncoa7	A	C	10: 30,577,913 (GRCm39)		probably null	Het
Nuf2	T	A	1: 169,338,118 (GRCm39)		probably benign	Het
Or6c8	A	G	10: 128,915,062 (GRCm39)	Y257H	probably damaging	Het
Pced1a	T	A	2: 130,261,763 (GRCm39)	S297C	probably damaging	Het
Pi15	A	T	1: 17,673,073 (GRCm39)	K91*	probably null	Het
Pla2g4e	C	T	2: 120,075,162 (GRCm39)		probably benign	Het
Plce1	A	T	19: 38,766,383 (GRCm39)	H2136L	probably damaging	Het
Plec	A	G	15: 76,061,084 (GRCm39)	L2973P	probably damaging	Het
Poln	A	G	5: 34,171,682 (GRCm39)	I695T	probably damaging	Het
Pramel32	T	A	4: 88,552,376 (GRCm39)	I2F	probably benign	Het
R3hdm1	C	T	1: 128,159,174 (GRCm39)	Q950*	probably null	Het
Rxra	C	T	2: 27,649,582 (GRCm39)	A429V	probably damaging	Het
Scnn1a	G	A	6: 125,299,207 (GRCm39)	G96S	probably damaging	Het
Senp5	T	A	16: 31,808,163 (GRCm39)	T337S	possibly damaging	Het
Smg9	A	G	7: 24,114,468 (GRCm39)	D269G	probably damaging	Het
Srsf11	C	T	3: 157,717,704 (GRCm39)		probably benign	Het
Tmtc1	C	T	6: 148,256,716 (GRCm39)		probably benign	Het
Vmn2r19	T	C	6: 123,312,931 (GRCm39)	V667A	probably damaging	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
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
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'- ATTATGGGGTAGCGAAGGGGCTTAC -3'
(R):5'- CACAAGGCAATGGCACTGAAGTCAC -3'

Sequencing Primer
(F):5'- GGGCTTACAGATTGCCACATAC -3'
(R):5'- AAGTCACTGACTTCTATCTTCTGG -3'

Posted On

2013-07-11