Mutagenetix > Incidental Mutation

Incidental Mutation 'R2214:Or14a259'

241019

Institutional Source

Beutler Lab

Gene Symbol

Or14a259

Ensembl Gene

ENSMUSG00000055571

Gene Name

olfactory receptor family 14 subfamily A member 259

Synonyms

GA_x6K02T2NHDJ-9744055-9745014, Olfr305, MOR219-2

MMRRC Submission

040216-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R2214 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86012584-86013543 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86013414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 44 (I44F)

Ref Sequence

ENSEMBL: ENSMUSP00000149883 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069236] [ENSMUST00000213255] [ENSMUST00000213869] [ENSMUST00000216700]

AlphaFold

Q7TS02

Predicted Effect

probably benign
Transcript: ENSMUST00000069236
AA Change: I44F

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000068650
Gene: ENSMUSG00000055571
AA Change: I44F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	2.3e-40	PFAM
Pfam:7tm_1	39	288	3.3e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213255
AA Change: I44F

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000213869
AA Change: I44F

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000216700
AA Change: I44F

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	T	C	16: 30,926,946 (GRCm39)	Y516C	probably benign	Het
Adam22	C	T	5: 8,186,805 (GRCm39)		probably null	Het
Akap8l	T	C	17: 32,557,799 (GRCm39)		probably null	Het
Casr	T	C	16: 36,336,120 (GRCm39)	Y63C	probably damaging	Het
Ccdc178	T	C	18: 22,048,047 (GRCm39)	D781G	possibly damaging	Het
Col9a1	C	A	1: 24,247,283 (GRCm39)	P168Q	probably damaging	Het
Dnm2	T	C	9: 21,397,019 (GRCm39)		probably null	Het
Dst	C	T	1: 34,310,482 (GRCm39)	T6325M	probably damaging	Het
Ercc4	C	A	16: 12,927,888 (GRCm39)	D19E	probably damaging	Het
Gm1110	C	A	9: 26,813,786 (GRCm39)	V198L	probably benign	Het
Gm8674	T	A	13: 50,055,396 (GRCm39)		noncoding transcript	Het
Grm7	A	T	6: 111,335,958 (GRCm39)	I790F	probably damaging	Het
Habp2	A	G	19: 56,306,249 (GRCm39)	D445G	possibly damaging	Het
Kat7	G	A	11: 95,166,631 (GRCm39)	T517I	probably damaging	Het
Kbtbd11	T	A	8: 15,079,178 (GRCm39)	D592E	possibly damaging	Het
Lgals8	T	A	13: 12,469,713 (GRCm39)	Q82L	probably benign	Het
Lmtk3	A	G	7: 45,444,277 (GRCm39)		probably benign	Het
Map2	A	T	1: 66,459,345 (GRCm39)	D1530V	probably damaging	Het
Map2k6	G	A	11: 110,387,167 (GRCm39)	V180I	probably damaging	Het
Map3k5	T	A	10: 19,902,035 (GRCm39)		probably null	Het
Mtor	A	G	4: 148,623,327 (GRCm39)	E2059G	probably benign	Het
Myh10	A	G	11: 68,673,953 (GRCm39)	D660G	probably damaging	Het
Myo16	T	A	8: 10,488,803 (GRCm39)	V658E	probably damaging	Het
Nckap5	A	T	1: 125,953,487 (GRCm39)	S1090T	possibly damaging	Het
Nhlrc3	T	C	3: 53,363,875 (GRCm39)	H217R	probably damaging	Het
Ntrk3	T	A	7: 78,166,520 (GRCm39)	I118F	probably damaging	Het
Or1e29	A	T	11: 73,667,655 (GRCm39)	L166*	probably null	Het
Or4p20	C	T	2: 88,253,461 (GRCm39)	V303M	probably benign	Het
Paxip1	T	C	5: 27,947,499 (GRCm39)	Y1053C	probably damaging	Het
Pfkfb4	T	A	9: 108,834,677 (GRCm39)	F117I	probably benign	Het
Pp2d1	T	C	17: 53,822,424 (GRCm39)	Y214C	probably benign	Het
Prr7	C	A	13: 55,620,613 (GRCm39)	S207*	probably null	Het
Ptprh	T	A	7: 4,555,921 (GRCm39)	Q715L	possibly damaging	Het
Rasgrp1	A	T	2: 117,115,646 (GRCm39)	D647E	probably damaging	Het
Rnf20	T	A	4: 49,648,344 (GRCm39)	M384K	possibly damaging	Het
Rps6kb1	A	T	11: 86,424,896 (GRCm39)	C37S	possibly damaging	Het
Serpinb9f	C	A	13: 33,518,592 (GRCm39)	T364K	probably benign	Het
Sorbs1	C	T	19: 40,285,075 (GRCm39)	A641T	probably damaging	Het
Srrm2	T	C	17: 24,035,719 (GRCm39)		probably benign	Het
Stag3	C	T	5: 138,299,528 (GRCm39)	S849L	possibly damaging	Het
Syt15	A	T	14: 33,944,989 (GRCm39)	S179C	probably damaging	Het
Tapbp	T	C	17: 34,139,300 (GRCm39)	F90L	possibly damaging	Het
Timm23	A	T	14: 31,920,944 (GRCm39)	D49E	probably damaging	Het
Tmcc1	C	CAT	6: 116,019,831 (GRCm39)		probably null	Het
Tmem174	A	C	13: 98,773,757 (GRCm39)	S24R	possibly damaging	Het
Tmem63a	A	G	1: 180,788,679 (GRCm39)	S339G	probably benign	Het
Tsc22d2	A	G	3: 58,323,627 (GRCm39)	Y173C	probably damaging	Het
Ubap2	A	G	4: 41,199,714 (GRCm39)		probably null	Het
Upp1	T	A	11: 9,086,033 (GRCm39)	V290E	probably benign	Het
Uqcc4	T	C	17: 25,403,699 (GRCm39)	V13A	probably benign	Het
Usp17lb	A	T	7: 104,490,639 (GRCm39)	M96K	probably benign	Het
Wdr20rt	A	G	12: 65,274,187 (GRCm39)	E449G	probably damaging	Het
Zkscan8	A	T	13: 21,705,082 (GRCm39)	S286T	probably benign	Het

Other mutations in Or14a259

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01071:Or14a259	APN	7	86,012,768 (GRCm39)	missense	possibly damaging	0.46
IGL02102:Or14a259	APN	7	86,013,074 (GRCm39)	missense	probably benign	0.25
IGL02424:Or14a259	APN	7	86,012,688 (GRCm39)	missense	probably benign	0.02
IGL02664:Or14a259	APN	7	86,012,811 (GRCm39)	missense	possibly damaging	0.94
IGL03167:Or14a259	APN	7	86,013,128 (GRCm39)	missense	probably damaging	1.00
R0035:Or14a259	UTSW	7	86,013,395 (GRCm39)	missense	possibly damaging	0.95
R0373:Or14a259	UTSW	7	86,013,013 (GRCm39)	nonsense	probably null
R0510:Or14a259	UTSW	7	86,013,035 (GRCm39)	missense	probably benign	0.21
R3147:Or14a259	UTSW	7	86,013,092 (GRCm39)	missense	probably benign	0.01
R3623:Or14a259	UTSW	7	86,013,308 (GRCm39)	missense	probably benign	0.02
R4155:Or14a259	UTSW	7	86,013,270 (GRCm39)	missense	probably benign	0.00
R4332:Or14a259	UTSW	7	86,013,080 (GRCm39)	missense	probably benign	0.01
R4785:Or14a259	UTSW	7	86,012,943 (GRCm39)	missense	probably damaging	1.00
R4834:Or14a259	UTSW	7	86,012,952 (GRCm39)	missense	probably benign	0.21
R4871:Or14a259	UTSW	7	86,012,692 (GRCm39)	missense	probably damaging	1.00
R5161:Or14a259	UTSW	7	86,013,546 (GRCm39)	splice site	probably null
R5254:Or14a259	UTSW	7	86,013,398 (GRCm39)	missense	possibly damaging	0.82
R6430:Or14a259	UTSW	7	86,013,181 (GRCm39)	nonsense	probably null
R7734:Or14a259	UTSW	7	86,013,476 (GRCm39)	missense	not run
R8520:Or14a259	UTSW	7	86,013,471 (GRCm39)	missense	probably benign	0.00
R8682:Or14a259	UTSW	7	86,013,373 (GRCm39)	missense	probably damaging	0.99
R9407:Or14a259	UTSW	7	86,013,194 (GRCm39)	nonsense	probably null
R9728:Or14a259	UTSW	7	86,012,771 (GRCm39)	missense	probably damaging	1.00
RF010:Or14a259	UTSW	7	86,012,594 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CTGATCCAAGGAGAGCCATG -3'
(R):5'- GACGTAATTTAGGTAGTTTCCTGAC -3'

Sequencing Primer
(F):5'- GAGCCATGAAAAATACCTGAAATGC -3'
(R):5'- CCACATAGTGTGTTTATACATTGGTG -3'

Posted On

2014-10-15