Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02493:Or5p57'

295716

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or5p57

Ensembl Gene

ENSMUSG00000063120

Gene Name

olfactory receptor family 5 subfamily P member 57

Synonyms

MOR204-32, GA_x6K02T2PBJ9-10395807-10394869, Olfr480

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.197) question?

Stock #

IGL02493

Quality Score

Status

Chromosome

Chromosomal Location

107664975-107666002 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107665012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 331 (M331K)

Ref Sequence

ENSEMBL: ENSMUSP00000071583 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071658] [ENSMUST00000217653]

AlphaFold

Q8VEZ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071658
AA Change: M331K

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000071583
Gene: ENSMUSG00000063120
AA Change: M331K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	61	338	1.7e-50	PFAM
Pfam:7tm_1	71	320	1.4e-20	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000081815
Gene: ENSMUSG00000063120
AA Change: M301K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	5.6e-49	PFAM
Pfam:7tm_1	41	290	8.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217653
AA Change: M301K

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	T	G	15: 59,888,312 (GRCm39)	S43R	probably benign	Het
Afap1l1	G	T	18: 61,870,594 (GRCm39)	Q595K	possibly damaging	Het
Alpk2	T	C	18: 65,483,402 (GRCm39)	E202G	probably benign	Het
Ap3b1	T	C	13: 94,540,528 (GRCm39)	V150A	probably damaging	Het
Bcas3	T	C	11: 85,386,708 (GRCm39)	I381T	probably damaging	Het
Best3	A	T	10: 116,860,506 (GRCm39)	R589W	possibly damaging	Het
Birc6	A	G	17: 74,959,054 (GRCm39)		probably benign	Het
Clcn4	A	C	7: 7,287,243 (GRCm39)	D728E	probably damaging	Het
Commd2	C	A	3: 57,559,080 (GRCm39)		probably benign	Het
Csrp1	T	A	1: 135,678,801 (GRCm39)	F175L	probably damaging	Het
Eif3c	A	T	7: 126,158,073 (GRCm39)	N294K	probably damaging	Het
Fam184a	A	G	10: 53,570,789 (GRCm39)		probably null	Het
Fndc1	G	T	17: 7,994,377 (GRCm39)	P297Q	unknown	Het
Galnt13	A	G	2: 54,770,149 (GRCm39)	I314V	probably benign	Het
Gimap6	T	A	6: 48,679,603 (GRCm39)	K144N	probably damaging	Het
Gm10188	A	T	1: 132,157,143 (GRCm39)	C74*	probably null	Het
Gpatch2	C	T	1: 186,965,325 (GRCm39)		probably benign	Het
Hace1	T	A	10: 45,464,515 (GRCm39)	M39K	probably damaging	Het
Has2	G	T	15: 56,531,320 (GRCm39)	T465K	probably damaging	Het
Homer3	T	A	8: 70,742,721 (GRCm39)	V144D	probably benign	Het
Ift140	A	T	17: 25,306,898 (GRCm39)	K878*	probably null	Het
Ikbip	A	G	10: 90,932,456 (GRCm39)	N367D	probably damaging	Het
Immt	T	C	6: 71,821,700 (GRCm39)		probably benign	Het
Isca1	A	G	13: 59,910,596 (GRCm39)	V32A	possibly damaging	Het
Kcnu1	T	A	8: 26,427,548 (GRCm39)	N288K	possibly damaging	Het
Kmt2b	C	T	7: 30,268,936 (GRCm39)		probably benign	Het
Lrguk	T	A	6: 34,106,127 (GRCm39)	D717E	probably benign	Het
Lrp1	C	T	10: 127,417,647 (GRCm39)	G1037E	probably damaging	Het
Man2a2	T	A	7: 80,019,363 (GRCm39)	Q37L	possibly damaging	Het
Msh4	C	T	3: 153,583,545 (GRCm39)		probably null	Het
Mtf1	C	T	4: 124,715,112 (GRCm39)	R246W	probably damaging	Het
Mvb12b	A	G	2: 33,730,221 (GRCm39)	S57P	probably benign	Het
Nat8f5	A	G	6: 85,794,544 (GRCm39)	F139L	probably benign	Het
Npepps	A	G	11: 97,128,985 (GRCm39)	F400L	probably damaging	Het
Ntsr2	T	A	12: 16,708,390 (GRCm39)	S248T	possibly damaging	Het
Oplah	G	A	15: 76,185,155 (GRCm39)	R853*	probably null	Het
Or5b98	T	C	19: 12,931,138 (GRCm39)	F62L	probably benign	Het
Plekhh2	G	A	17: 84,914,391 (GRCm39)		probably null	Het
Pskh1	G	A	8: 106,656,388 (GRCm39)	V355I	probably benign	Het
Rab31	A	T	17: 66,024,547 (GRCm39)	M44K	possibly damaging	Het
Slc5a4b	A	G	10: 75,910,849 (GRCm39)	V329A	probably damaging	Het
Slc5a7	A	G	17: 54,600,908 (GRCm39)	Y76H	probably damaging	Het
Trappc14	T	C	5: 138,261,432 (GRCm39)		probably null	Het
Treh	A	T	9: 44,594,246 (GRCm39)	D164V	possibly damaging	Het
Trim6	A	G	7: 103,881,847 (GRCm39)	Y366C	probably benign	Het
Ubr7	T	C	12: 102,734,479 (GRCm39)	V251A	probably benign	Het
Vmn1r35	T	A	6: 66,656,463 (GRCm39)	N69I	possibly damaging	Het
Zan	A	G	5: 137,433,968 (GRCm39)	L2255P	unknown	Het

Other mutations in Or5p57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Or5p57	APN	7	107,665,495 (GRCm39)	missense	probably benign	0.32
IGL02060:Or5p57	APN	7	107,665,878 (GRCm39)	missense	probably benign	0.03
IGL02392:Or5p57	APN	7	107,665,710 (GRCm39)	missense	probably benign	0.10
IGL02634:Or5p57	APN	7	107,665,978 (GRCm39)	missense	probably benign	0.00
F5770:Or5p57	UTSW	7	107,665,885 (GRCm39)	missense	probably benign	0.11
R0446:Or5p57	UTSW	7	107,665,932 (GRCm39)	nonsense	probably null
R1070:Or5p57	UTSW	7	107,665,858 (GRCm39)	missense	probably benign	0.00
R1510:Or5p57	UTSW	7	107,665,735 (GRCm39)	missense	probably damaging	1.00
R1862:Or5p57	UTSW	7	107,665,932 (GRCm39)	nonsense	probably null
R1863:Or5p57	UTSW	7	107,665,932 (GRCm39)	nonsense	probably null
R1885:Or5p57	UTSW	7	107,665,985 (GRCm39)	missense	probably benign	0.00
R1886:Or5p57	UTSW	7	107,665,985 (GRCm39)	missense	probably benign	0.00
R1887:Or5p57	UTSW	7	107,665,985 (GRCm39)	missense	probably benign	0.00
R3609:Or5p57	UTSW	7	107,665,576 (GRCm39)	missense	probably damaging	1.00
R3921:Or5p57	UTSW	7	107,665,108 (GRCm39)	missense	possibly damaging	0.94
R4259:Or5p57	UTSW	7	107,665,100 (GRCm39)	nonsense	probably null
R5276:Or5p57	UTSW	7	107,665,423 (GRCm39)	nonsense	probably null
R6224:Or5p57	UTSW	7	107,665,949 (GRCm39)	missense	probably benign	0.00
R8059:Or5p57	UTSW	7	107,665,223 (GRCm39)	missense	probably benign	0.01
R8229:Or5p57	UTSW	7	107,665,794 (GRCm39)	missense	probably benign	0.01
R8271:Or5p57	UTSW	7	107,664,980 (GRCm39)	missense	probably damaging	0.99
R8926:Or5p57	UTSW	7	107,665,513 (GRCm39)	missense	probably benign	0.06
R9176:Or5p57	UTSW	7	107,665,246 (GRCm39)	missense	probably benign	0.05
V7581:Or5p57	UTSW	7	107,665,885 (GRCm39)	missense	probably benign	0.11
X0021:Or5p57	UTSW	7	107,665,795 (GRCm39)	missense	probably benign	0.01
X0066:Or5p57	UTSW	7	107,665,642 (GRCm39)	missense	probably benign	0.00
Z1088:Or5p57	UTSW	7	107,665,534 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16