Mutagenetix > Incidental Mutation

Incidental Mutation 'R0346:Or1e26'

34289

Institutional Source

Beutler Lab

Gene Symbol

Or1e26

Ensembl Gene

ENSMUSG00000095095

Gene Name

olfactory receptor family 1 subfamily E member 26

Synonyms

Olfr385, GA_x6K02T2P1NL-3760313-3759375, MOR135-3

MMRRC Submission

038553-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R0346 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73479624-73480562 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73480283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 94 (Y94H)

Ref Sequence

ENSEMBL: ENSMUSP00000149293 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071553] [ENSMUST00000215689]

AlphaFold

Q8VGT1

Predicted Effect

probably damaging
Transcript: ENSMUST00000071553
AA Change: Y94H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071484
Gene: ENSMUSG00000095095
AA Change: Y94H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	6.1e-55	PFAM
Pfam:7TM_GPCR_Srsx	35	305	1.7e-6	PFAM
Pfam:7tm_1	41	290	2.2e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215689
AA Change: Y94H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6058

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.7%
20x: 96.4%

Validation Efficiency

100% (79/79)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,516,278 (GRCm39)	I4406L	probably damaging	Het
Abca16	T	A	7: 120,035,155 (GRCm39)	C314S	probably damaging	Het
Add3	C	T	19: 53,205,387 (GRCm39)	R46*	probably null	Het
Alas1	A	T	9: 106,120,550 (GRCm39)	S82T	possibly damaging	Het
Alkbh5	C	G	11: 60,429,567 (GRCm39)	R107G	possibly damaging	Het
Ap3b1	A	T	13: 94,582,479 (GRCm39)	R365*	probably null	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
AU021092	T	C	16: 5,034,718 (GRCm39)	D168G	possibly damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Caln1	C	A	5: 130,851,762 (GRCm39)	H184N	possibly damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Ccdc191	T	C	16: 43,759,315 (GRCm39)	V372A	probably damaging	Het
Ccng2	T	G	5: 93,418,753 (GRCm39)	I126S	probably damaging	Het
Cep85	A	T	4: 133,859,733 (GRCm39)	N643K	probably damaging	Het
Clvs2	G	C	10: 33,498,542 (GRCm39)	S129R	possibly damaging	Het
Cntn1	G	T	15: 92,129,968 (GRCm39)		probably benign	Het
Cttn	A	T	7: 144,006,276 (GRCm39)		probably benign	Het
Dedd2	T	C	7: 24,910,694 (GRCm39)	S161G	possibly damaging	Het
Dnajb13	T	C	7: 100,153,132 (GRCm39)	D263G	probably damaging	Het
Dppa4	T	A	16: 48,109,687 (GRCm39)		probably benign	Het
Ear2	A	G	14: 44,340,363 (GRCm39)	E7G	probably damaging	Het
Eif2b4	A	G	5: 31,345,452 (GRCm39)		probably benign	Het
Etl4	G	T	2: 20,764,463 (GRCm39)		probably null	Het
Fbxo15	T	A	18: 84,978,346 (GRCm39)		probably null	Het
Gm9970	A	G	5: 31,398,182 (GRCm39)		probably benign	Het
Hap1	A	G	11: 100,246,855 (GRCm39)	S17P	probably benign	Het
Hgd	C	T	16: 37,409,136 (GRCm39)		probably benign	Het
Ift56	T	C	6: 38,386,370 (GRCm39)	C364R	probably damaging	Het
Inpp5f	T	A	7: 128,292,392 (GRCm39)	L16Q	probably damaging	Het
Irag1	T	C	7: 110,498,183 (GRCm39)	D404G	probably damaging	Het
Islr2	G	A	9: 58,105,626 (GRCm39)	R545*	probably null	Het
Itgav	G	T	2: 83,622,953 (GRCm39)	C675F	probably damaging	Het
Kif13a	T	A	13: 46,967,695 (GRCm39)	I403L	possibly damaging	Het
Kif14	T	A	1: 136,395,898 (GRCm39)	I68N	probably damaging	Het
Kif26a	G	T	12: 112,145,782 (GRCm39)	K1764N	probably null	Het
Lrrd1	C	A	5: 3,900,215 (GRCm39)	F173L	probably benign	Het
Mroh4	G	C	15: 74,486,141 (GRCm39)		probably benign	Het
Msh5	A	G	17: 35,248,864 (GRCm39)	V723A	probably benign	Het
Mybph	T	G	1: 134,125,492 (GRCm39)	I279S	probably damaging	Het
Myh4	A	T	11: 67,151,152 (GRCm39)	I1936L	probably benign	Het
Myo1h	A	T	5: 114,493,270 (GRCm39)	T704S	probably benign	Het
Nav2	C	A	7: 49,254,333 (GRCm39)	T2377K	probably benign	Het
Nipbl	T	G	15: 8,390,440 (GRCm39)	Q276H	probably damaging	Het
Nlrp9b	T	C	7: 19,758,440 (GRCm39)	L559P	probably damaging	Het
Nup210l	T	A	3: 90,096,745 (GRCm39)	V1318E	probably damaging	Het
Or4z4	A	T	19: 12,076,803 (GRCm39)	S67T	probably damaging	Het
Or6c8b	C	A	10: 128,882,342 (GRCm39)	V197F	possibly damaging	Het
Or7e178	A	G	9: 20,225,707 (GRCm39)	S170P	probably benign	Het
P2ry13	T	C	3: 59,116,987 (GRCm39)	T264A	possibly damaging	Het
Plekhg5	T	C	4: 152,198,710 (GRCm39)	L966P	probably benign	Het
Prss35	A	G	9: 86,637,404 (GRCm39)	K58R	probably benign	Het
Ptafr	T	A	4: 132,307,390 (GRCm39)	L260*	probably null	Het
Pum1	A	T	4: 130,507,116 (GRCm39)	T1157S	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf145	A	G	11: 44,445,991 (GRCm39)	Y275C	probably damaging	Het
Rpl6	A	T	5: 121,346,554 (GRCm39)	K218N	possibly damaging	Het
Rps6	T	C	4: 86,774,218 (GRCm39)	T128A	probably benign	Het
Ryr1	G	T	7: 28,767,013 (GRCm39)		probably benign	Het
Scel	A	T	14: 103,767,420 (GRCm39)	Q26H	probably damaging	Het
Sfxn4	A	T	19: 60,847,111 (GRCm39)	D57E	probably benign	Het
Slc35d1	A	C	4: 103,048,044 (GRCm39)	L240R	probably damaging	Het
Smcr8	A	G	11: 60,670,576 (GRCm39)	I575V	probably benign	Het
Spata31e4	T	C	13: 50,857,346 (GRCm39)	Y995H	probably benign	Het
Syk	G	A	13: 52,794,695 (GRCm39)	M476I	probably damaging	Het
Tbcel	A	T	9: 42,348,539 (GRCm39)		probably benign	Het
Tob2	C	A	15: 81,742,424 (GRCm39)	G65W	probably damaging	Het
Trim16	A	G	11: 62,731,520 (GRCm39)	N464D	probably benign	Het
Trim36	T	C	18: 46,332,776 (GRCm39)		probably benign	Het
Trpv4	C	A	5: 114,768,590 (GRCm39)		probably benign	Het
Tsga10	T	A	1: 37,879,600 (GRCm39)	T64S	possibly damaging	Het
Vars2	A	T	17: 35,975,756 (GRCm39)		probably benign	Het
Vmn1r72	C	A	7: 11,403,621 (GRCm39)	V276L	probably benign	Het
Vps13a	T	A	19: 16,655,333 (GRCm39)	K1898N	probably benign	Het
Vps18	A	G	2: 119,127,645 (GRCm39)	M823V	probably damaging	Het
Washc2	T	C	6: 116,197,484 (GRCm39)		probably benign	Het
Zfp763	A	T	17: 33,238,721 (GRCm39)	H141Q	probably benign	Het

Other mutations in Or1e26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01570:Or1e26	APN	11	73,480,209 (GRCm39)	missense	probably benign	0.34
IGL02045:Or1e26	APN	11	73,480,058 (GRCm39)	missense	probably damaging	1.00
IGL02324:Or1e26	APN	11	73,480,081 (GRCm39)	missense	probably benign	0.02
IGL02328:Or1e26	APN	11	73,480,081 (GRCm39)	missense	probably benign	0.02
IGL02562:Or1e26	APN	11	73,480,237 (GRCm39)	missense	probably benign
IGL02715:Or1e26	APN	11	73,479,947 (GRCm39)	missense	probably benign	0.00
IGL03182:Or1e26	APN	11	73,480,268 (GRCm39)	missense	probably benign	0.04
IGL03048:Or1e26	UTSW	11	73,479,831 (GRCm39)	missense	possibly damaging	0.56
R0675:Or1e26	UTSW	11	73,480,078 (GRCm39)	missense	probably damaging	1.00
R0751:Or1e26	UTSW	11	73,479,970 (GRCm39)	missense	probably benign	0.02
R1220:Or1e26	UTSW	11	73,480,203 (GRCm39)	nonsense	probably null
R1389:Or1e26	UTSW	11	73,480,369 (GRCm39)	missense	possibly damaging	0.88
R1484:Or1e26	UTSW	11	73,480,187 (GRCm39)	missense	possibly damaging	0.91
R1619:Or1e26	UTSW	11	73,480,118 (GRCm39)	missense	probably damaging	1.00
R2290:Or1e26	UTSW	11	73,479,745 (GRCm39)	missense	probably benign	0.37
R3713:Or1e26	UTSW	11	73,479,731 (GRCm39)	missense	probably damaging	1.00
R3781:Or1e26	UTSW	11	73,480,194 (GRCm39)	nonsense	probably null
R3781:Or1e26	UTSW	11	73,479,839 (GRCm39)	missense	probably damaging	1.00
R3782:Or1e26	UTSW	11	73,480,194 (GRCm39)	nonsense	probably null
R3782:Or1e26	UTSW	11	73,479,839 (GRCm39)	missense	probably damaging	1.00
R4402:Or1e26	UTSW	11	73,480,081 (GRCm39)	missense	probably benign	0.02
R4721:Or1e26	UTSW	11	73,480,273 (GRCm39)	missense	probably damaging	1.00
R5157:Or1e26	UTSW	11	73,480,549 (GRCm39)	missense	probably damaging	1.00
R5995:Or1e26	UTSW	11	73,480,076 (GRCm39)	missense	probably benign
R6373:Or1e26	UTSW	11	73,479,724 (GRCm39)	missense	probably benign	0.42
R6658:Or1e26	UTSW	11	73,479,874 (GRCm39)	missense	probably damaging	0.99
R7046:Or1e26	UTSW	11	73,480,558 (GRCm39)	missense	probably benign
R7096:Or1e26	UTSW	11	73,480,463 (GRCm39)	missense	probably benign	0.03
R7238:Or1e26	UTSW	11	73,480,561 (GRCm39)	start codon destroyed	probably null	0.99
R7537:Or1e26	UTSW	11	73,480,094 (GRCm39)	missense	probably benign	0.04
R7548:Or1e26	UTSW	11	73,479,802 (GRCm39)	missense	possibly damaging	0.56
R7888:Or1e26	UTSW	11	73,480,354 (GRCm39)	missense	probably damaging	0.99
R7968:Or1e26	UTSW	11	73,480,154 (GRCm39)	missense	probably benign	0.05
R8923:Or1e26	UTSW	11	73,480,076 (GRCm39)	missense	probably benign
R9006:Or1e26	UTSW	11	73,480,036 (GRCm39)	missense	probably benign	0.40
R9281:Or1e26	UTSW	11	73,480,133 (GRCm39)	missense	probably benign
R9689:Or1e26	UTSW	11	73,479,686 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGTGCAATGTGGAATTCAGCATGG -3'
(R):5'- TGACCCAGGATGAGCACATAGCAG -3'

Sequencing Primer
(F):5'- TTCAGCATGGTAAGTAACCAGGAC -3'
(R):5'- GGAGTTTTGGCATCATAACCAC -3'

Posted On

2013-05-09