Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01634:Or5ak24'

93536

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or5ak24

Ensembl Gene

ENSMUSG00000075219

Gene Name

olfactory receptor family 5 subfamily AK member 24

Synonyms

MOR203-4, GA_x6K02T2Q125-46907515-46906571, Olfr994

Accession Numbers

Essential gene?

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

Stock #

IGL01634

Quality Score

Status

Chromosome

Chromosomal Location

85260227-85266537 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85260783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 130 (L130H)

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: L130H

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

SMART Domains

Protein: ENSMUSP00000097509
Gene: ENSMUSG00000075219
AA Change: L130H

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: L130H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215758

Predicted Effect

probably damaging
Transcript: ENSMUST00000217218
AA Change: L130H

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

Coding Region Coverage

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034H15Rik	A	T	1: 191,633,016 (GRCm39)		noncoding transcript	Het
4933421I07Rik	C	T	7: 42,097,123 (GRCm39)	D63N	probably benign	Het
Alg9	C	A	9: 50,686,677 (GRCm39)		probably null	Het
Anln	T	C	9: 22,271,771 (GRCm39)	T695A	probably benign	Het
Aox4	G	T	1: 58,261,089 (GRCm39)	D141Y	possibly damaging	Het
Arhgap21	C	A	2: 20,919,455 (GRCm39)	Q84H	probably benign	Het
Arnt	G	A	3: 95,377,709 (GRCm39)		probably benign	Het
Atp8a2	T	A	14: 60,235,511 (GRCm39)	Y677F	probably benign	Het
Car6	C	T	4: 150,282,610 (GRCm39)	V12M	probably benign	Het
Cd209d	A	T	8: 3,927,974 (GRCm39)		probably null	Het
Ctnna1	T	A	18: 35,356,501 (GRCm39)	V390E	probably damaging	Het
Cypt4	T	A	9: 24,536,952 (GRCm39)	N147K	possibly damaging	Het
Dnah10	C	A	5: 124,898,405 (GRCm39)	A3729E	probably damaging	Het
Dusp8	A	G	7: 141,638,160 (GRCm39)	V156A	probably benign	Het
Ecm1	G	A	3: 95,642,211 (GRCm39)	P458L	probably damaging	Het
Fat3	T	G	9: 15,909,654 (GRCm39)	Y2116S	probably damaging	Het
Fscn3	T	A	6: 28,430,537 (GRCm39)	Y236N	probably damaging	Het
Gaa	G	A	11: 119,164,902 (GRCm39)	S265N	possibly damaging	Het
Gas7	T	C	11: 67,565,057 (GRCm39)		probably benign	Het
Gbp8	T	C	5: 105,166,438 (GRCm39)	K297R	probably damaging	Het
Gm1818	G	A	12: 48,602,992 (GRCm39)		noncoding transcript	Het
Gm5114	G	T	7: 39,058,071 (GRCm39)	T516K	probably benign	Het
Hectd1	A	G	12: 51,850,562 (GRCm39)	S165P	probably damaging	Het
Hoxb4	G	T	11: 96,209,726 (GRCm39)	R44L	probably damaging	Het
Ivd	G	A	2: 118,706,863 (GRCm39)	R285H	probably damaging	Het
Krtap20-2	T	C	16: 89,002,977 (GRCm39)	F59S	unknown	Het
Megf8	G	A	7: 25,058,206 (GRCm39)		probably benign	Het
Mgat4d	A	T	8: 84,094,745 (GRCm39)	M261L	possibly damaging	Het
Mlc1	A	T	15: 88,858,921 (GRCm39)		probably benign	Het
Mmp20	T	A	9: 7,635,149 (GRCm39)	Y43*	probably null	Het
Morc3	G	A	16: 93,670,125 (GRCm39)	V767I	probably benign	Het
Myo15a	A	G	11: 60,386,298 (GRCm39)	T1808A	probably damaging	Het
Notch4	T	C	17: 34,791,562 (GRCm39)	F574L	probably damaging	Het
Npas3	G	A	12: 53,993,946 (GRCm39)	V164M	probably damaging	Het
Nptx1	A	G	11: 119,435,498 (GRCm39)	Y273H	probably damaging	Het
Oaf	T	C	9: 43,135,301 (GRCm39)	N159S	probably damaging	Het
Or10a3n	A	T	7: 108,493,292 (GRCm39)	F107L	probably benign	Het
Or4c111	T	A	2: 88,843,788 (GRCm39)	I207F	probably damaging	Het
Pgm2	T	C	5: 64,258,317 (GRCm39)	F101L	probably benign	Het
Pkd1l3	A	C	8: 110,394,157 (GRCm39)		probably null	Het
Plcd1	C	T	9: 118,902,857 (GRCm39)	R527H	probably damaging	Het
Rexo2	C	T	9: 48,380,215 (GRCm39)	E206K	probably damaging	Het
Ropn1	C	A	16: 34,487,148 (GRCm39)	T28N	possibly damaging	Het
Ropn1	A	T	16: 34,487,141 (GRCm39)	I26F	probably damaging	Het
Rpgrip1l	C	A	8: 91,979,171 (GRCm39)	S998I	probably benign	Het
Rpgrip1l	T	A	8: 91,979,172 (GRCm39)	S998C	probably benign	Het
Scap	T	C	9: 110,207,857 (GRCm39)		probably null	Het
Sec23b	T	C	2: 144,401,150 (GRCm39)	Y4H	probably damaging	Het
Sfrp4	C	A	13: 19,807,800 (GRCm39)	D66E	possibly damaging	Het
Slc25a36	T	C	9: 96,962,534 (GRCm39)	T13A	probably benign	Het
Synpr	A	T	14: 13,608,576 (GRCm38)	I119F	possibly damaging	Het
Tamm41	A	C	6: 114,993,059 (GRCm39)	H109Q	probably benign	Het
Tet1	A	T	10: 62,714,367 (GRCm39)	I476K	possibly damaging	Het
Tg	A	T	15: 66,601,415 (GRCm39)	I142F	probably benign	Het
Thada	A	T	17: 84,700,786 (GRCm39)		probably null	Het
Triobp	T	C	15: 78,877,568 (GRCm39)	L1654P	probably damaging	Het
Trpm7	A	G	2: 126,668,738 (GRCm39)	V726A	probably damaging	Het
Txndc15	T	G	13: 55,869,438 (GRCm39)	V197G	probably damaging	Het
Ubr3	A	T	2: 69,803,916 (GRCm39)	T1169S	probably benign	Het
Uhmk1	C	T	1: 170,034,682 (GRCm39)		probably null	Het
Vmn2r16	T	A	5: 109,488,177 (GRCm39)	M350K	probably benign	Het
Vmn2r77	G	A	7: 86,460,857 (GRCm39)	V728I	probably benign	Het
Wipf1	G	A	2: 73,278,225 (GRCm39)	P7S	unknown	Het
Zswim3	A	G	2: 164,661,922 (GRCm39)	D134G	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
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
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

Posted On

2013-12-09