Mutagenetix > Incidental Mutation

Incidental Mutation 'R0123:Or14a260'

21166

Institutional Source

Beutler Lab

Gene Symbol

Or14a260

Ensembl Gene

ENSMUSG00000055610

Gene Name

olfactory receptor family 14 subfamily A member 260

Synonyms

Olfr307, GA_x6K02T2NHDJ-9772012-9772953, MOR219-1

MMRRC Submission

038408-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R0123 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

85984661-85985602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85984803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 267 (I267T)

Ref Sequence

ENSEMBL: ENSMUSP00000149779 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069279] [ENSMUST00000213705] [ENSMUST00000217494]

AlphaFold

Q8VFN8

Predicted Effect

probably benign
Transcript: ENSMUST00000069279
AA Change: I267T

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000063538
Gene: ENSMUSG00000055610
AA Change: I267T

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
Pfam:7tm_4	29	306	1.6e-42	PFAM
Pfam:7tm_1	39	288	9.8e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213705
AA Change: I267T

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000217494
AA Change: I267T

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.1%

Validation Efficiency

99% (71/72)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	T	C	19: 21,575,565 (GRCm39)		probably benign	Het
Abca16	T	A	7: 120,139,378 (GRCm39)	L1470Q	probably damaging	Het
Abraxas2	G	A	7: 132,476,584 (GRCm39)	R105Q	probably damaging	Het
Becn1	A	G	11: 101,181,324 (GRCm39)	Y326H	probably damaging	Het
Bicd1	T	C	6: 149,414,448 (GRCm39)	I387T	probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
Cacna1g	T	A	11: 94,300,302 (GRCm39)	H2156L	probably damaging	Het
Cd22	A	G	7: 30,566,533 (GRCm39)		probably benign	Het
Cd59b	G	A	2: 103,909,286 (GRCm39)		probably null	Het
Chn2	T	C	6: 54,267,436 (GRCm39)		probably benign	Het
Cmya5	A	G	13: 93,232,412 (GRCm39)	L892P	possibly damaging	Het
Col5a2	A	G	1: 45,446,195 (GRCm39)	I461T	probably benign	Het
Cts8	T	A	13: 61,401,391 (GRCm39)	M75L	probably benign	Het
Ddx50	A	T	10: 62,457,156 (GRCm39)		probably benign	Het
Dlg5	T	C	14: 24,197,274 (GRCm39)	M1558V	probably benign	Het
Dnlz	T	C	2: 26,241,380 (GRCm39)	N116S	probably damaging	Het
Efcab14	T	C	4: 115,597,728 (GRCm39)	F108L	probably damaging	Het
Ell2	T	C	13: 75,910,259 (GRCm39)		probably benign	Het
Fam234b	T	G	6: 135,194,072 (GRCm39)	S242A	possibly damaging	Het
Fhip2a	G	A	19: 57,369,839 (GRCm39)	D461N	probably benign	Het
Garnl3	T	C	2: 32,896,816 (GRCm39)	T608A	possibly damaging	Het
Gata3	T	C	2: 9,879,620 (GRCm39)	T119A	probably benign	Het
Hdac2	T	A	10: 36,865,180 (GRCm39)	D131E	probably benign	Het
Hira	T	A	16: 18,774,921 (GRCm39)	F949I	probably benign	Het
Il3	A	G	11: 54,156,506 (GRCm39)		probably null	Het
Itgb3	A	T	11: 104,527,914 (GRCm39)	K216N	probably damaging	Het
Jkampl	A	G	6: 73,446,402 (GRCm39)	L49P	possibly damaging	Het
Kctd21	T	A	7: 96,997,298 (GRCm39)	I257N	probably benign	Het
Kif16b	A	T	2: 142,514,295 (GRCm39)	S1215T	probably benign	Het
Lhx9	A	T	1: 138,766,417 (GRCm39)	C124S	probably damaging	Het
Lrch3	T	A	16: 32,782,124 (GRCm39)		probably benign	Het
Lrp1b	T	C	2: 40,486,995 (GRCm39)	E142G	probably damaging	Het
Macf1	T	C	4: 123,326,636 (GRCm39)	M2835V	possibly damaging	Het
Mndal	A	T	1: 173,685,079 (GRCm39)		probably benign	Het
Mug2	G	T	6: 122,051,673 (GRCm39)	V952L	possibly damaging	Het
Nepn	A	T	10: 52,276,533 (GRCm39)	T29S	probably damaging	Het
Nlgn1	C	T	3: 25,490,089 (GRCm39)	C546Y	probably damaging	Het
Notch4	C	T	17: 34,784,337 (GRCm39)	R43W	possibly damaging	Het
Nrxn1	A	T	17: 91,302,915 (GRCm39)		probably null	Het
Or8k53	T	C	2: 86,178,072 (GRCm39)	I13V	possibly damaging	Het
Phf3	A	T	1: 30,844,146 (GRCm39)	D1604E	probably benign	Het
Plekhn1	T	C	4: 156,312,700 (GRCm39)	R53G	probably benign	Het
Pnp2	T	C	14: 51,200,634 (GRCm39)	F100S	probably damaging	Het
Rimoc1	T	C	15: 4,015,776 (GRCm39)	K263E	probably damaging	Het
Rxfp1	A	G	3: 79,564,783 (GRCm39)	S327P	probably damaging	Het
Siah2	A	G	3: 58,583,536 (GRCm39)	V250A	probably damaging	Het
Slc10a7	T	A	8: 79,423,787 (GRCm39)		probably null	Het
Slc9a1	A	G	4: 133,147,916 (GRCm39)	K645E	probably benign	Het
Smarca4	T	C	9: 21,548,620 (GRCm39)	L302P	probably damaging	Het
Tas2r120	T	A	6: 132,634,552 (GRCm39)	Y211*	probably null	Het
Tenm3	A	T	8: 49,127,507 (GRCm39)	L57Q	probably damaging	Het
Tep1	C	T	14: 51,067,150 (GRCm39)	V2269I	possibly damaging	Het
Tpd52l1	A	G	10: 31,255,252 (GRCm39)	S32P	probably damaging	Het
Tsfm	A	G	10: 126,858,798 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,540,468 (GRCm39)	R34173W	probably damaging	Het
Ttn	C	A	2: 76,623,474 (GRCm39)	V15368L	possibly damaging	Het
Upk1a	A	T	7: 30,311,819 (GRCm39)	I25N	possibly damaging	Het
Vmn1r45	A	T	6: 89,910,492 (GRCm39)	Y159*	probably null	Het
Vmn2r13	C	A	5: 109,322,915 (GRCm39)	V125L	probably benign	Het
Vps13b	T	C	15: 35,887,407 (GRCm39)	I3272T	probably benign	Het
Zfp108	A	G	7: 23,959,892 (GRCm39)	H161R	probably benign	Het
Zfp982	A	T	4: 147,597,093 (GRCm39)	K150I	probably benign	Het
Zfyve1	A	G	12: 83,601,847 (GRCm39)		probably benign	Het
Zswim8	T	C	14: 20,766,558 (GRCm39)		probably benign	Het

Other mutations in Or14a260

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Or14a260	APN	7	85,985,269 (GRCm39)	missense	probably benign	0.00
IGL02419:Or14a260	APN	7	85,984,870 (GRCm39)	missense	probably damaging	0.98
IGL02519:Or14a260	APN	7	85,984,789 (GRCm39)	missense	probably benign	0.01
IGL02750:Or14a260	APN	7	85,984,752 (GRCm39)	missense	probably damaging	1.00
R0134:Or14a260	UTSW	7	85,984,803 (GRCm39)	missense	probably benign	0.02
R0225:Or14a260	UTSW	7	85,984,803 (GRCm39)	missense	probably benign	0.02
R1025:Or14a260	UTSW	7	85,985,113 (GRCm39)	missense	probably benign	0.09
R1511:Or14a260	UTSW	7	85,985,553 (GRCm39)	missense	possibly damaging	0.49
R1674:Or14a260	UTSW	7	85,984,765 (GRCm39)	missense	probably damaging	1.00
R2011:Or14a260	UTSW	7	85,984,955 (GRCm39)	nonsense	probably null
R4588:Or14a260	UTSW	7	85,984,852 (GRCm39)	missense	probably benign	0.00
R5637:Or14a260	UTSW	7	85,984,812 (GRCm39)	missense	probably benign	0.00
R6163:Or14a260	UTSW	7	85,985,592 (GRCm39)	missense	possibly damaging	0.84
R6407:Or14a260	UTSW	7	85,985,277 (GRCm39)	missense	possibly damaging	0.90
R7342:Or14a260	UTSW	7	85,985,295 (GRCm39)	missense	probably benign	0.00
R8066:Or14a260	UTSW	7	85,985,014 (GRCm39)	missense	probably benign	0.00
R8155:Or14a260	UTSW	7	85,985,386 (GRCm39)	missense	probably damaging	1.00
R8158:Or14a260	UTSW	7	85,984,885 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGCACCGCTCTTCTGATGCAATG -3'
(R):5'- TCCTGCTCTGAAACACTTGTGGC -3'

Sequencing Primer
(F):5'- GGTAAATCTCCAGAATGCACTG -3'
(R):5'- GCCATTTACTCATGTCTTGGAATTG -3'

Posted On

2013-04-11