Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03184:Or4e5'

412359

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or4e5

Ensembl Gene

ENSMUSG00000059887

Gene Name

olfactory receptor family 4 subfamily E member 5

Synonyms

MOR28, MOR244-1, GA_x6K02T2RJGY-491851-492792, Olfr1507

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

IGL03184

Quality Score

Status

Chromosome

Chromosomal Location

52727392-52733152 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52728380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 14 (S14P)

Ref Sequence

ENSEMBL: ENSMUSP00000146152 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073571] [ENSMUST00000205963] [ENSMUST00000206062] [ENSMUST00000206069] [ENSMUST00000206931]

AlphaFold

Q0VEP0

Predicted Effect

probably benign
Transcript: ENSMUST00000073571
AA Change: S14P

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000073260
Gene: ENSMUSG00000059887
AA Change: S14P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	308	1.1e-47	PFAM
Pfam:7TM_GPCR_Srsx	38	305	3.6e-9	PFAM
Pfam:7tm_1	44	290	9.1e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205963

Predicted Effect

probably benign
Transcript: ENSMUST00000206062
AA Change: S14P

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000206069

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206087
AA Change: S14P

Predicted Effect

unknown
Transcript: ENSMUST00000206931
AA Change: S14P

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,471,570 (GRCm39)	Y992H	possibly damaging	Het
Actmap	A	G	7: 26,896,432 (GRCm39)		probably benign	Het
Adcy7	T	A	8: 89,035,271 (GRCm39)	D58E	probably benign	Het
Aff2	G	A	X: 68,810,840 (GRCm39)	V404M	possibly damaging	Het
Ankhd1	T	A	18: 36,780,830 (GRCm39)	L1961M	probably damaging	Het
Brms1l	T	C	12: 55,915,062 (GRCm39)	*324Q	probably null	Het
Bub1b	T	C	2: 118,440,258 (GRCm39)		probably benign	Het
Cacna1b	A	G	2: 24,548,501 (GRCm39)		probably null	Het
Clrn1	T	A	3: 58,753,645 (GRCm39)	T239S	probably benign	Het
Clta	T	C	4: 44,025,514 (GRCm39)	Y145H	probably benign	Het
Coro6	T	C	11: 77,354,779 (GRCm39)	V14A	probably damaging	Het
Cyp4a30b	A	G	4: 115,316,216 (GRCm39)	D314G	probably damaging	Het
Fn1	T	C	1: 71,648,656 (GRCm39)	N1418D	probably benign	Het
Fshr	A	C	17: 89,354,068 (GRCm39)	L97V	possibly damaging	Het
Gcm2	T	C	13: 41,258,888 (GRCm39)	Q152R	probably damaging	Het
Gcnt2	A	G	13: 41,041,660 (GRCm39)	N273S	probably benign	Het
Gm11437	A	T	11: 84,047,090 (GRCm39)		probably benign	Het
Gm4559	A	G	7: 141,828,046 (GRCm39)	S19P	unknown	Het
Igsf8	T	G	1: 172,146,199 (GRCm39)	I462R	probably damaging	Het
Kirrel3	T	C	9: 34,919,052 (GRCm39)	F243S	probably damaging	Het
Krt80	C	T	15: 101,250,135 (GRCm39)	V37M	probably damaging	Het
Lama4	T	C	10: 38,954,839 (GRCm39)	Y1131H	probably damaging	Het
Mrpl21	T	C	19: 3,342,529 (GRCm39)		probably benign	Het
Mtcl1	T	C	17: 66,661,209 (GRCm39)	N923S	probably benign	Het
Nectin2	G	A	7: 19,472,231 (GRCm39)	P53S	possibly damaging	Het
Nup98	G	A	7: 101,832,752 (GRCm39)	T335I	probably damaging	Het
Or2y1e	C	A	11: 49,218,568 (GRCm39)	T110K	probably damaging	Het
Or4a74	T	C	2: 89,439,912 (GRCm39)	D178G	probably damaging	Het
Or51a42	T	A	7: 103,708,054 (GRCm39)	I252F	probably damaging	Het
Or6c69c	T	C	10: 129,910,627 (GRCm39)	M116T	possibly damaging	Het
Pcdhb14	A	G	18: 37,582,085 (GRCm39)	E397G	probably benign	Het
Pcgf5	T	G	19: 36,412,076 (GRCm39)		probably benign	Het
Pclo	C	T	5: 14,764,457 (GRCm39)	P1025L	probably damaging	Het
Pdcd1lg2	C	A	19: 29,431,911 (GRCm39)	F226L	probably benign	Het
Pik3ca	T	A	3: 32,494,035 (GRCm39)	S332R	probably benign	Het
Plek	A	T	11: 16,931,887 (GRCm39)	D321E	probably benign	Het
Pm20d2	A	G	4: 33,179,241 (GRCm39)	F333L	probably damaging	Het
Polk	T	C	13: 96,620,491 (GRCm39)	T570A	probably benign	Het
Rpgrip1l	G	A	8: 92,027,437 (GRCm39)	L201F	probably damaging	Het
Serpinb2	T	A	1: 107,452,607 (GRCm39)	L395H	probably damaging	Het
Slc9c1	T	G	16: 45,368,003 (GRCm39)	S197R	probably damaging	Het
Smg1	T	A	7: 117,779,603 (GRCm39)	E1264V	possibly damaging	Het
Sned1	A	G	1: 93,202,390 (GRCm39)	D678G	probably benign	Het
Sorcs2	A	G	5: 36,188,556 (GRCm39)	S851P	probably benign	Het
Srcap	A	G	7: 127,129,674 (GRCm39)		probably benign	Het
Tbck	T	C	3: 132,441,864 (GRCm39)	Y557H	probably damaging	Het
Tfap2d	T	C	1: 19,189,110 (GRCm39)	S219P	probably damaging	Het
Trim9	T	C	12: 70,297,995 (GRCm39)	D570G	probably damaging	Het
Usp25	A	G	16: 76,878,541 (GRCm39)	Y655C	probably damaging	Het
Utrn	T	A	10: 12,585,910 (GRCm39)	T956S	probably benign	Het
Vmn1r68	T	A	7: 10,261,799 (GRCm39)	I100F	probably benign	Het
Vps13a	A	T	19: 16,631,734 (GRCm39)	S2634T	probably benign	Het
Zfp472	T	A	17: 33,196,390 (GRCm39)	L155*	probably null	Het
Zfp808	A	G	13: 62,317,381 (GRCm39)	I43M	possibly damaging	Het

Other mutations in Or4e5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01336:Or4e5	APN	14	52,728,205 (GRCm39)	missense	probably damaging	1.00
IGL01367:Or4e5	APN	14	52,727,624 (GRCm39)	missense	probably benign	0.42
IGL01664:Or4e5	APN	14	52,728,002 (GRCm39)	missense	probably benign	0.01
IGL02890:Or4e5	APN	14	52,728,368 (GRCm39)	missense	probably benign
IGL03108:Or4e5	APN	14	52,727,533 (GRCm39)	missense	probably damaging	0.97
R0563:Or4e5	UTSW	14	52,727,714 (GRCm39)	nonsense	probably null
R1080:Or4e5	UTSW	14	52,728,042 (GRCm39)	nonsense	probably null
R1558:Or4e5	UTSW	14	52,727,603 (GRCm39)	missense	probably benign	0.26
R1653:Or4e5	UTSW	14	52,728,229 (GRCm39)	missense	probably damaging	1.00
R1714:Or4e5	UTSW	14	52,727,871 (GRCm39)	splice site	probably null
R1720:Or4e5	UTSW	14	52,728,051 (GRCm39)	nonsense	probably null
R3430:Or4e5	UTSW	14	52,727,882 (GRCm39)	missense	possibly damaging	0.92
R4995:Or4e5	UTSW	14	52,727,988 (GRCm39)	nonsense	probably null
R5954:Or4e5	UTSW	14	52,727,624 (GRCm39)	missense	probably benign	0.42
R6183:Or4e5	UTSW	14	52,728,188 (GRCm39)	missense	probably benign	0.05
R6518:Or4e5	UTSW	14	52,728,077 (GRCm39)	missense	probably damaging	1.00
R6651:Or4e5	UTSW	14	52,728,250 (GRCm39)	missense	probably benign	0.07
R6652:Or4e5	UTSW	14	52,728,250 (GRCm39)	missense	probably benign	0.07
R6653:Or4e5	UTSW	14	52,728,250 (GRCm39)	missense	probably benign	0.07
R7385:Or4e5	UTSW	14	52,727,638 (GRCm39)	missense	probably damaging	1.00
R7524:Or4e5	UTSW	14	52,727,750 (GRCm39)	missense	probably damaging	1.00
R8902:Or4e5	UTSW	14	52,728,010 (GRCm39)	missense	probably benign	0.02
R9165:Or4e5	UTSW	14	52,727,830 (GRCm39)	missense	possibly damaging	0.71
R9763:Or4e5	UTSW	14	52,728,307 (GRCm39)	missense	probably damaging	1.00
X0025:Or4e5	UTSW	14	52,727,923 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02