Mutagenetix > Incidental Mutation

Incidental Mutation 'R6430:Or14a259'

518482

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

044568-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R6430 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86012584-86013543 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 86013181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 121 (Y121*)

Ref Sequence

ENSEMBL: ENSMUSP00000149883 (fasta)

Gene Model

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

AlphaFold

Q7TS02

Predicted Effect

probably null
Transcript: ENSMUST00000069236
AA Change: Y121*

SMART Domains

Protein: ENSMUSP00000068650
Gene: ENSMUSG00000055571
AA Change: Y121*

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 null
Transcript: ENSMUST00000213255
AA Change: Y121*

Predicted Effect

probably null
Transcript: ENSMUST00000213869
AA Change: Y121*

Predicted Effect

probably null
Transcript: ENSMUST00000216700
AA Change: Y121*

Meta Mutation Damage Score

0.9576

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

100% (47/47)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI661453	C	A	17: 47,777,722 (GRCm39)		probably benign	Het
Ank1	T	A	8: 23,622,125 (GRCm39)	L1513Q	probably damaging	Het
Ap2a1	C	A	7: 44,553,253 (GRCm39)	V676L	probably benign	Het
Arid2	T	C	15: 96,261,575 (GRCm39)	V477A	probably benign	Het
Auh	C	A	13: 53,083,446 (GRCm39)	G17C	probably benign	Het
B3gnt7	T	C	1: 86,233,839 (GRCm39)	F362L	possibly damaging	Het
Cd207	C	T	6: 83,652,869 (GRCm39)	R87H	probably benign	Het
Cdyl	A	G	13: 36,055,589 (GRCm39)	K503R	possibly damaging	Het
Cep350	A	G	1: 155,770,419 (GRCm39)	S1824P	probably damaging	Het
Cmas	T	A	6: 142,713,650 (GRCm39)	M225K	probably benign	Het
Dhx29	T	C	13: 113,081,153 (GRCm39)	S396P	possibly damaging	Het
Epg5	T	C	18: 78,019,100 (GRCm39)	S958P	probably damaging	Het
Espnl	T	C	1: 91,249,970 (GRCm39)	L39P	possibly damaging	Het
Fcsk	A	G	8: 111,610,748 (GRCm39)	V915A	probably benign	Het
Flacc1	T	A	1: 58,717,448 (GRCm39)	K154N	probably damaging	Het
Gatb	A	G	3: 85,544,345 (GRCm39)	N438D	probably benign	Het
Hspg2	T	C	4: 137,266,707 (GRCm39)	C1932R	probably damaging	Het
Jmjd1c	C	T	10: 67,059,939 (GRCm39)	T662I	possibly damaging	Het
Kcng4	A	G	8: 120,359,789 (GRCm39)	S196P	probably damaging	Het
Kcnh7	T	G	2: 62,680,876 (GRCm39)	H237P	probably benign	Het
Klhl38	T	C	15: 58,185,707 (GRCm39)	T341A	probably benign	Het
Klra9	G	T	6: 130,155,995 (GRCm39)	Y253*	probably null	Het
Man2c1	T	C	9: 57,038,517 (GRCm39)	V59A	possibly damaging	Het
Nr2c1	A	T	10: 94,031,203 (GRCm39)	H588L	possibly damaging	Het
Or2j3	T	C	17: 38,616,249 (GRCm39)	I34M	probably benign	Het
Osbpl6	A	G	2: 76,409,620 (GRCm39)	E494G	probably damaging	Het
Per1	T	C	11: 68,995,122 (GRCm39)	L638S	probably damaging	Het
Plekhn1	T	C	4: 156,306,261 (GRCm39)	E603G	probably benign	Het
Prss12	A	T	3: 123,273,243 (GRCm39)	S280C	probably damaging	Het
Pudp	A	G	18: 50,701,307 (GRCm39)	I142T	probably benign	Het
Rabl6	A	T	2: 25,474,849 (GRCm39)	N620K	probably damaging	Het
Rttn	T	A	18: 89,039,809 (GRCm39)	C837S	probably null	Het
Slc16a7	A	G	10: 125,066,887 (GRCm39)	S251P	probably damaging	Het
Slc7a10	A	G	7: 34,897,083 (GRCm39)	I195V	probably benign	Het
Slc9a4	A	T	1: 40,640,014 (GRCm39)	R269*	probably null	Het
Slco6c1	T	A	1: 97,003,699 (GRCm39)	Q466L	probably benign	Het
Smc6	A	G	12: 11,359,235 (GRCm39)	N953S	probably benign	Het
Tex15	T	C	8: 34,061,329 (GRCm39)	V527A	probably benign	Het
Tln2	T	C	9: 67,179,947 (GRCm39)	Y808C	probably damaging	Het
Tmem145	T	C	7: 25,008,463 (GRCm39)	L289P	possibly damaging	Het
Trim3	A	G	7: 105,267,212 (GRCm39)	V389A	probably benign	Het
Vmn1r3	G	A	4: 3,184,971 (GRCm39)	T112I	probably benign	Het
Vps11	C	A	9: 44,272,847 (GRCm39)	A28S	probably benign	Het
Zbtb41	T	A	1: 139,374,945 (GRCm39)	S802T	probably benign	Het
Zmynd10	A	T	9: 107,425,911 (GRCm39)	K82*	probably null	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
R2214:Or14a259	UTSW	7	86,013,414 (GRCm39)	missense	probably benign	0.01
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
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'- TCCAGAGCAGGAAATCCTTAAGAG -3'
(R):5'- CTGTGGATCTGAAGCTCCAAAC -3'

Sequencing Primer
(F):5'- GCAGGAAATCCTTAAGAGTGATG -3'
(R):5'- AACACCCATGTACTTCTTCTTGAAG -3'

Posted On

2018-05-24