Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02943:Or5p64'

364575

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or5p64

Ensembl Gene

ENSMUSG00000096465

Gene Name

olfactory receptor family 5 subfamily P member 64

Synonyms

Olfr488, MOR204-15, GA_x6K02T2PBJ9-10586187-10585243

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

IGL02943

Quality Score

Status

Chromosome

Chromosomal Location

107854399-107855343 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107854623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 241 (F241L)

Ref Sequence

ENSEMBL: ENSMUSP00000149427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072968] [ENSMUST00000211345] [ENSMUST00000211508] [ENSMUST00000215173]

AlphaFold

Q8VG02

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072968
AA Change: F241L

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000072735
Gene: ENSMUSG00000096465
AA Change: F241L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	5.7e-53	PFAM
Pfam:7tm_1	44	293	2.6e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211345
AA Change: F241L

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211508
AA Change: F241L

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215173
AA Change: F241L

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akp3	T	A	1: 87,054,091 (GRCm39)	Y236*	probably null	Het
Ankrd13c	C	T	3: 157,653,564 (GRCm39)	T134M	probably damaging	Het
Arhgef18	T	C	8: 3,498,553 (GRCm39)	S529P	probably damaging	Het
Cdkl2	T	A	5: 92,185,103 (GRCm39)	N96I	possibly damaging	Het
Cep57	A	T	9: 13,730,149 (GRCm39)		probably benign	Het
Chchd7	T	C	4: 3,942,796 (GRCm39)	Y44H	probably damaging	Het
Ciart	T	C	3: 95,786,314 (GRCm39)	I254V	possibly damaging	Het
Cyp2a12	T	C	7: 26,731,967 (GRCm39)	I236T	probably benign	Het
Dlgap5	A	G	14: 47,650,433 (GRCm39)		probably null	Het
Ednra	T	A	8: 78,446,683 (GRCm39)	I132F	probably damaging	Het
En2	T	C	5: 28,371,524 (GRCm39)		probably benign	Het
Fcgbpl1	A	G	7: 27,846,613 (GRCm39)	R1102G	probably damaging	Het
Fsip2	C	A	2: 82,822,701 (GRCm39)	Q6145K	probably benign	Het
Galnt5	A	T	2: 57,889,780 (GRCm39)	D460V	probably damaging	Het
Gm6401	C	T	14: 41,788,851 (GRCm39)	E73K	possibly damaging	Het
Gpr84	T	C	15: 103,217,316 (GRCm39)	I254V	probably benign	Het
Hacd3	A	T	9: 64,897,718 (GRCm39)	I298N	probably damaging	Het
Hyal6	T	A	6: 24,743,438 (GRCm39)	V378E	probably damaging	Het
Il20rb	G	T	9: 100,348,305 (GRCm39)	H210N	probably benign	Het
Iqgap2	A	G	13: 95,798,243 (GRCm39)		probably benign	Het
Itga1	C	T	13: 115,185,832 (GRCm39)	E57K	possibly damaging	Het
Jmjd1c	T	A	10: 67,055,433 (GRCm39)	D571E	probably damaging	Het
Kmt2c	T	C	5: 25,495,821 (GRCm39)	S623G	probably damaging	Het
L3mbtl2	T	A	15: 81,570,456 (GRCm39)	S645T	possibly damaging	Het
Lrp2	A	G	2: 69,285,854 (GRCm39)	V3779A	possibly damaging	Het
Lrpprc	T	C	17: 85,078,878 (GRCm39)	R279G	probably benign	Het
Lurap1l	A	G	4: 80,871,872 (GRCm39)	K122E	probably damaging	Het
Met	T	C	6: 17,535,928 (GRCm39)	Y785H	possibly damaging	Het
Myh3	T	C	11: 66,981,891 (GRCm39)	F796L	probably benign	Het
Myo16	T	C	8: 10,450,595 (GRCm39)		probably benign	Het
Nedd4l	T	C	18: 65,294,723 (GRCm39)		probably null	Het
Nlrp4c	T	C	7: 6,068,974 (GRCm39)	C292R	probably damaging	Het
Nmnat1	A	G	4: 149,557,745 (GRCm39)	L99P	probably damaging	Het
Or1j12	A	T	2: 36,343,051 (GRCm39)	L151F	probably benign	Het
Pclo	T	C	5: 14,719,235 (GRCm39)	V1124A	unknown	Het
Phf20l1	A	G	15: 66,466,733 (GRCm39)	Y54C	probably damaging	Het
Postn	T	C	3: 54,285,029 (GRCm39)		probably null	Het
Ppp2r1b	A	G	9: 50,794,885 (GRCm39)	D570G	probably damaging	Het
Prdm2	A	C	4: 142,858,542 (GRCm39)	S1583A	probably benign	Het
Proser1	T	C	3: 53,386,524 (GRCm39)	V802A	probably damaging	Het
Ptprc	A	T	1: 138,027,251 (GRCm39)	N532K	probably damaging	Het
Ptprk	A	G	10: 28,351,172 (GRCm39)	H555R	possibly damaging	Het
Ranbp6	T	C	19: 29,789,524 (GRCm39)	D276G	possibly damaging	Het
Rasgrf2	A	G	13: 92,131,752 (GRCm39)	V635A	probably damaging	Het
Rbm5	T	C	9: 107,621,542 (GRCm39)	Y620C	probably damaging	Het
Sall1	C	T	8: 89,757,749 (GRCm39)	R785H	probably damaging	Het
Slc22a2	G	T	17: 12,828,948 (GRCm39)	L351F	probably damaging	Het
Sorcs3	A	T	19: 48,748,377 (GRCm39)	Q782L	probably benign	Het
Sphkap	A	T	1: 83,254,552 (GRCm39)	S779T	probably damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tas2r107	T	A	6: 131,636,369 (GRCm39)	M227L	probably damaging	Het
Tecpr2	C	T	12: 110,934,183 (GRCm39)	T1281I	probably benign	Het
Topbp1	T	A	9: 103,205,639 (GRCm39)	V759E	probably benign	Het
Trim2	T	C	3: 84,085,483 (GRCm39)	T504A	probably benign	Het
Trpc1	A	G	9: 95,590,906 (GRCm39)		probably benign	Het
Tssk4	T	A	14: 55,889,023 (GRCm39)	V183E	probably damaging	Het
Vmn1r202	T	C	13: 22,686,364 (GRCm39)	T18A	probably benign	Het
Vmn1r225	T	C	17: 20,722,567 (GRCm39)	S3P	possibly damaging	Het
Vmn2r101	T	A	17: 19,831,666 (GRCm39)	V554E	probably damaging	Het
Vps13a	T	C	19: 16,641,250 (GRCm39)	I2291V	probably damaging	Het
Vps39	A	G	2: 120,169,968 (GRCm39)	S195P	possibly damaging	Het
Zfand4	T	A	6: 116,250,837 (GRCm39)		probably benign	Het

Other mutations in Or5p64

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01575:Or5p64	APN	7	107,854,742 (GRCm39)	missense	possibly damaging	0.89
IGL02510:Or5p64	APN	7	107,855,348 (GRCm39)	utr 5 prime	probably benign
IGL02962:Or5p64	APN	7	107,854,910 (GRCm39)	missense	possibly damaging	0.78
PIT4472001:Or5p64	UTSW	7	107,855,310 (GRCm39)	missense	possibly damaging	0.46
R0980:Or5p64	UTSW	7	107,855,229 (GRCm39)	small deletion	probably benign
R0981:Or5p64	UTSW	7	107,855,229 (GRCm39)	small deletion	probably benign
R0981:Or5p64	UTSW	7	107,855,228 (GRCm39)	small deletion	probably benign
R1957:Or5p64	UTSW	7	107,854,403 (GRCm39)	nonsense	probably null
R3147:Or5p64	UTSW	7	107,854,883 (GRCm39)	missense	possibly damaging	0.89
R4163:Or5p64	UTSW	7	107,855,039 (GRCm39)	missense	probably benign	0.06
R4190:Or5p64	UTSW	7	107,855,330 (GRCm39)	missense	probably benign
R4911:Or5p64	UTSW	7	107,855,244 (GRCm39)	missense	possibly damaging	0.81
R5274:Or5p64	UTSW	7	107,854,842 (GRCm39)	missense	probably benign	0.02
R5684:Or5p64	UTSW	7	107,855,246 (GRCm39)	missense	possibly damaging	0.75
R6394:Or5p64	UTSW	7	107,854,970 (GRCm39)	missense	possibly damaging	0.95
R6467:Or5p64	UTSW	7	107,855,109 (GRCm39)	missense	probably damaging	0.99
R7173:Or5p64	UTSW	7	107,854,955 (GRCm39)	missense	possibly damaging	0.78
R7317:Or5p64	UTSW	7	107,854,425 (GRCm39)	missense	probably benign	0.00
R7348:Or5p64	UTSW	7	107,855,330 (GRCm39)	missense	probably benign
R7485:Or5p64	UTSW	7	107,855,045 (GRCm39)	missense	probably damaging	1.00
R9358:Or5p64	UTSW	7	107,854,799 (GRCm39)	missense	probably damaging	0.99
R9715:Or5p64	UTSW	7	107,855,198 (GRCm39)	missense	probably benign	0.45

Posted On

2015-12-18