Mutagenetix > Incidental Mutation

Incidental Mutation 'R8682:Or14a259'

661808

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

068537-MU

Accession Numbers

Essential gene?

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

Stock #

R8682 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86012584-86013543 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86013373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 57 (M57I)

Ref Sequence

ENSEMBL: ENSMUSP00000149762 (fasta)

Gene Model

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

AlphaFold

Q7TS02

Predicted Effect

probably damaging
Transcript: ENSMUST00000069236
AA Change: M57I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000068650
Gene: ENSMUSG00000055571
AA Change: M57I

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 damaging
Transcript: ENSMUST00000213255
AA Change: M57I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000213869
AA Change: M57I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216700
AA Change: M57I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.9%
20x: 95.7%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	A	11: 58,314,725 (GRCm39)	L141Q	probably null	Het
Abtb2	A	T	2: 103,397,720 (GRCm39)	T217S	probably benign	Het
Adcy1	T	C	11: 7,111,328 (GRCm39)	I873T	probably damaging	Het
Angpt4	A	G	2: 151,769,005 (GRCm39)	M172V	probably benign	Het
Apaf1	A	T	10: 90,831,532 (GRCm39)	V1194D	probably damaging	Het
Arhgap30	T	C	1: 171,234,970 (GRCm39)	S479P	probably benign	Het
Asah2	C	T	19: 32,030,277 (GRCm39)	V132M	probably damaging	Het
Bmp10	A	G	6: 87,410,541 (GRCm39)		probably null	Het
Bsn	T	C	9: 107,983,368 (GRCm39)	Y790C		Het
Cacna2d1	C	A	5: 16,558,837 (GRCm39)	R732S	possibly damaging	Het
Casr	A	T	16: 36,315,784 (GRCm39)	F762Y	possibly damaging	Het
Cbln1	T	C	8: 88,198,735 (GRCm39)	D45G	possibly damaging	Het
Cd177	A	T	7: 24,459,438 (GRCm39)	M61K	possibly damaging	Het
Cdh11	T	C	8: 103,377,348 (GRCm39)	I433V	probably benign	Het
Cdhr5	A	G	7: 140,855,899 (GRCm39)		probably null	Het
Col12a1	T	A	9: 79,568,358 (GRCm39)	K1622I	probably benign	Het
Cyp2d9	A	G	15: 82,337,917 (GRCm39)	D103G	probably damaging	Het
Dync2i1	A	T	12: 116,188,610 (GRCm39)	H661Q	probably damaging	Het
Eif4a3l1	A	G	6: 136,306,027 (GRCm39)	T163A	possibly damaging	Het
Fem1b	A	T	9: 62,704,432 (GRCm39)	L276*	probably null	Het
Fggy	T	A	4: 95,700,358 (GRCm39)	V343E	probably damaging	Het
Flt3	A	G	5: 147,320,265 (GRCm39)	V33A	probably benign	Het
Grn	T	C	11: 102,325,646 (GRCm39)	Y288H	probably benign	Het
Grtp1	G	A	8: 13,229,499 (GRCm39)	R272W	probably damaging	Het
H2-Aa	A	G	17: 34,502,734 (GRCm39)	I144T	possibly damaging	Het
Herc1	A	G	9: 66,370,130 (GRCm39)	D469G		Het
Hsf2	G	A	10: 57,381,267 (GRCm39)	E286K	possibly damaging	Het
Hydin	A	G	8: 111,035,798 (GRCm39)	E163G	probably damaging	Het
Il6ra	A	G	3: 89,793,976 (GRCm39)	I224T	possibly damaging	Het
Itih3	T	A	14: 30,642,673 (GRCm39)	I204F	possibly damaging	Het
Kcnj9	A	T	1: 172,153,680 (GRCm39)	M148K	possibly damaging	Het
Lepr	T	G	4: 101,649,269 (GRCm39)	V890G	probably benign	Het
Mslnl	A	G	17: 25,965,962 (GRCm39)	D612G	probably benign	Het
Myl2	T	A	5: 122,244,798 (GRCm39)	V156D	probably damaging	Het
Neb	C	A	2: 52,136,857 (GRCm39)	W3208L	probably damaging	Het
Neto2	T	C	8: 86,367,295 (GRCm39)	Y511C	probably benign	Het
Obi1	G	T	14: 104,717,669 (GRCm39)	R235S	probably damaging	Het
Obox2	C	A	7: 15,130,912 (GRCm39)	T48K	possibly damaging	Het
Or51f2	T	A	7: 102,526,646 (GRCm39)	F106L	probably benign	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Osbpl6	C	G	2: 76,407,425 (GRCm39)	H486D	probably benign	Het
Pfkfb3	T	C	2: 11,489,144 (GRCm39)	K264E	probably benign	Het
Phf11	G	A	14: 59,496,033 (GRCm39)	T27I	probably benign	Het
Pla2r1	T	A	2: 60,253,120 (GRCm39)	T1324S	possibly damaging	Het
Plekhg1	A	T	10: 3,897,523 (GRCm39)	Y495F		Het
Ppp2r5d	T	C	17: 46,997,989 (GRCm39)	K225E	probably benign	Het
Ptpn11	T	C	5: 121,306,053 (GRCm39)	D64G	possibly damaging	Het
Ptprs	A	G	17: 56,742,849 (GRCm39)	I431T	probably damaging	Het
Rapgef5	T	C	12: 117,545,432 (GRCm39)	S100P	probably benign	Het
Shh	T	A	5: 28,663,058 (GRCm39)	H370L	probably benign	Het
Siah3	A	T	14: 75,763,043 (GRCm39)	H98L	possibly damaging	Het
Sim2	C	T	16: 93,924,192 (GRCm39)	H446Y	probably benign	Het
Skint4	T	C	4: 111,993,237 (GRCm39)	I320T	possibly damaging	Het
Sorcs1	A	T	19: 50,367,398 (GRCm39)	N221K	probably damaging	Het
Sox6	T	C	7: 115,076,191 (GRCm39)	S816G	probably damaging	Het
Sphkap	T	C	1: 83,256,997 (GRCm39)	T251A	probably benign	Het
Stard9	T	C	2: 120,533,796 (GRCm39)	V3351A	possibly damaging	Het
Tbc1d15	A	G	10: 115,046,195 (GRCm39)	V436A	probably benign	Het
Thsd7b	A	T	1: 129,688,011 (GRCm39)	K641*	probably null	Het
Tmc5	G	T	7: 118,269,925 (GRCm39)	V892F	possibly damaging	Het
Tpsab1	T	A	17: 25,562,685 (GRCm39)	H238L	probably benign	Het
Trank1	A	G	9: 111,194,412 (GRCm39)	N812S	probably benign	Het
Trio	T	A	15: 27,905,278 (GRCm39)	N163Y	unknown	Het
Ttc39d	A	G	17: 80,524,693 (GRCm39)	T451A	probably benign	Het
Ube3b	T	C	5: 114,550,351 (GRCm39)	L832P	probably damaging	Het
Vmn2r15	C	A	5: 109,441,938 (GRCm39)	C165F	probably damaging	Het
Vmn2r90	T	C	17: 17,932,344 (GRCm39)	F84L	possibly damaging	Het
Wdr95	C	T	5: 149,518,752 (GRCm39)	T531I	possibly damaging	Het
Zcrb1	C	A	15: 93,284,118 (GRCm39)	G191V	probably benign	Het
Zfp111	G	A	7: 23,897,983 (GRCm39)	P544S	probably damaging	Het
Zfyve9	T	C	4: 108,576,539 (GRCm39)	S181G	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
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
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
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'- TAATGACCTCATAATGTAGGGGAC -3'
(R):5'- ATGCCCAATGTCACTGCAG -3'

Sequencing Primer
(F):5'- TGGCAACATAGCGATCATATGAC -3'
(R):5'- CAATGTCACTGCAGTAACTGG -3'

Posted On

2021-03-08