Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02389:Or14a257'

291674

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or14a257

Ensembl Gene

ENSMUSG00000062878

Gene Name

olfactory receptor family 14 subfamily A member 257

Synonyms

GA_x6K02T2NHDJ-9619796-9620794, Olfr298, MOR219-4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

IGL02389

Quality Score

Status

Chromosome

Chromosomal Location

86137759-86138757 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86138336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 141 (L141P)

Ref Sequence

ENSEMBL: ENSMUSP00000150228 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077800] [ENSMUST00000213223] [ENSMUST00000216968] [ENSMUST00000217110]

AlphaFold

Q7TS06

Predicted Effect

probably damaging
Transcript: ENSMUST00000077800
AA Change: L141P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076973
Gene: ENSMUSG00000062878
AA Change: L141P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	4.2e-37	PFAM
Pfam:7tm_1	39	288	8.4e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213223
AA Change: L141P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216968
AA Change: L141P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217110
AA Change: L141P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	A	5: 64,053,826 (GRCm39)	S11N	probably null	Het
Aqp9	T	C	9: 71,030,188 (GRCm39)	I200V	possibly damaging	Het
Cntn2	T	C	1: 132,453,059 (GRCm39)	E411G	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cstdc5	C	A	16: 36,187,848 (GRCm39)	V6F	possibly damaging	Het
Dennd3	A	G	15: 73,438,905 (GRCm39)	D1091G	probably damaging	Het
Dock2	T	C	11: 34,589,567 (GRCm39)		probably benign	Het
Dscam	T	A	16: 96,442,097 (GRCm39)	I1577F	probably benign	Het
Egflam	A	T	15: 7,279,559 (GRCm39)	N482K	probably benign	Het
Fam216a	T	C	5: 122,505,574 (GRCm39)	T129A	probably damaging	Het
Fbxo40	T	C	16: 36,790,136 (GRCm39)	M325V	probably benign	Het
Fbxw8	C	T	5: 118,267,020 (GRCm39)	V148M	possibly damaging	Het
Fcgbp	C	T	7: 27,774,596 (GRCm39)	R57C	probably damaging	Het
Gnpnat1	A	G	14: 45,618,388 (GRCm39)		probably null	Het
Gria2	T	C	3: 80,616,729 (GRCm39)	T408A	probably benign	Het
H2-T3	A	G	17: 36,497,500 (GRCm39)	M59T	probably benign	Het
Jakmip1	C	T	5: 37,258,187 (GRCm39)	Q278*	probably null	Het
Krtap21-1	C	T	16: 89,200,312 (GRCm39)	G110D	unknown	Het
Myo7a	C	T	7: 97,756,198 (GRCm39)		probably null	Het
Nlrp9c	T	A	7: 26,093,632 (GRCm39)	Q11L	probably benign	Het
Or5b94	A	T	19: 12,651,899 (GRCm39)	D110V	probably benign	Het
Or6c75	T	A	10: 129,336,939 (GRCm39)	M62K	probably benign	Het
Or6c8	A	C	10: 128,915,099 (GRCm39)	I244M	probably damaging	Het
Pdzd8	A	G	19: 59,289,825 (GRCm39)	I525T	probably benign	Het
Pign	A	T	1: 105,574,506 (GRCm39)	L280*	probably null	Het
Pik3r4	T	G	9: 105,527,530 (GRCm39)	I294M	possibly damaging	Het
Pkhd1	T	A	1: 20,187,944 (GRCm39)	I3455F	probably damaging	Het
Prmt3	C	T	7: 49,498,506 (GRCm39)	Q471*	probably null	Het
Prrc2c	A	G	1: 162,520,439 (GRCm39)	F2006L	probably damaging	Het
Ptger3	C	T	3: 157,272,808 (GRCm39)	R52C	probably damaging	Het
Rfx2	T	C	17: 57,115,325 (GRCm39)		probably benign	Het
Sh3bp4	T	C	1: 89,072,870 (GRCm39)	F573L	probably damaging	Het
Slc18a2	G	T	19: 59,251,733 (GRCm39)		probably benign	Het
Slc26a8	T	A	17: 28,857,624 (GRCm39)	I840F	probably benign	Het
Slc5a4b	A	T	10: 75,908,299 (GRCm39)	Y364*	probably null	Het
Slitrk1	A	G	14: 109,149,754 (GRCm39)	I319T	probably benign	Het
Stxbp5l	C	T	16: 37,028,567 (GRCm39)	A499T	probably benign	Het
Tnks2	T	A	19: 36,861,503 (GRCm39)	S951R	probably benign	Het
Trim30c	A	G	7: 104,031,381 (GRCm39)	F478S	probably benign	Het
Tyro3	C	T	2: 119,635,345 (GRCm39)		probably benign	Het
Vmn1r34	A	T	6: 66,614,042 (GRCm39)	L232Q	probably damaging	Het
Zfp148	T	A	16: 33,315,816 (GRCm39)	C215S	probably damaging	Het
Zzef1	C	T	11: 72,782,043 (GRCm39)	P1995S	probably benign	Het
Zzef1	T	A	11: 72,790,364 (GRCm39)	V2106D	possibly damaging	Het

Other mutations in Or14a257

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01517:Or14a257	APN	7	86,138,765 (GRCm39)	utr 5 prime	probably benign
IGL01603:Or14a257	APN	7	86,138,139 (GRCm39)	missense	possibly damaging	0.92
IGL03146:Or14a257	APN	7	86,138,402 (GRCm39)	missense	probably damaging	1.00
R0680:Or14a257	UTSW	7	86,138,545 (GRCm39)	missense	probably benign
R0834:Or14a257	UTSW	7	86,138,698 (GRCm39)	missense	probably benign	0.11
R1132:Or14a257	UTSW	7	86,138,425 (GRCm39)	missense	probably benign	0.03
R1519:Or14a257	UTSW	7	86,138,333 (GRCm39)	missense	probably damaging	0.99
R1881:Or14a257	UTSW	7	86,138,646 (GRCm39)	missense	probably benign	0.01
R2170:Or14a257	UTSW	7	86,137,778 (GRCm39)	missense	probably benign	0.03
R4500:Or14a257	UTSW	7	86,138,127 (GRCm39)	missense	probably benign	0.00
R4524:Or14a257	UTSW	7	86,138,034 (GRCm39)	missense	probably damaging	1.00
R5184:Or14a257	UTSW	7	86,138,499 (GRCm39)	frame shift	probably null
R5521:Or14a257	UTSW	7	86,137,839 (GRCm39)	missense	probably benign	0.08
R7448:Or14a257	UTSW	7	86,138,417 (GRCm39)	missense	probably damaging	1.00
R7643:Or14a257	UTSW	7	86,138,776 (GRCm39)	critical splice acceptor site	probably null
R7688:Or14a257	UTSW	7	86,138,183 (GRCm39)	missense	probably benign	0.01
R8104:Or14a257	UTSW	7	86,138,231 (GRCm39)	missense	probably damaging	1.00
R8732:Or14a257	UTSW	7	86,138,061 (GRCm39)	missense	probably damaging	0.96
R8973:Or14a257	UTSW	7	86,138,487 (GRCm39)	missense	probably damaging	1.00
R9235:Or14a257	UTSW	7	86,138,306 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16