Mutagenetix > Incidental Mutation

Incidental Mutation 'R4655:Or1af1'

352328

Institutional Source

Beutler Lab

Gene Symbol

Or1af1

Ensembl Gene

ENSMUSG00000068947

Gene Name

olfactory receptor family 1 subfamily AF member 1

Synonyms

Olfr366, MOR138-5P, MOR138-6, GA_x6K02T2NLDC-33902472-33903401

MMRRC Submission

041915-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R4655 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37109503-37110432 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37109885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 128 (N128S)

Ref Sequence

ENSEMBL: ENSMUSP00000150608 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091001] [ENSMUST00000214897]

AlphaFold

Q7TRY4

Predicted Effect

probably benign
Transcript: ENSMUST00000091001
AA Change: N128S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000088524
Gene: ENSMUSG00000068947
AA Change: N128S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	5e-62	PFAM
Pfam:7tm_1	41	290	3.7e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214897
AA Change: N128S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

Meta Mutation Damage Score

0.1277

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

96% (79/82)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,314,778 (GRCm39)	V300A	probably benign	Het
Aadacl4fm2	A	T	4: 144,281,645 (GRCm39)	F382L	probably benign	Het
Abca4	A	G	3: 121,941,147 (GRCm39)	N405S	possibly damaging	Het
Acsl3	A	G	1: 78,668,063 (GRCm39)	T212A	probably damaging	Het
Ahnak	A	G	19: 8,986,065 (GRCm39)	K2450E	probably damaging	Het
Akap9	G	A	5: 4,096,403 (GRCm39)	R2426H	probably benign	Het
Akr1c6	T	C	13: 4,499,428 (GRCm39)	V266A	probably damaging	Het
Ccs	A	G	19: 4,889,232 (GRCm39)	V11A	probably benign	Het
Cdc14a	T	A	3: 116,122,136 (GRCm39)	H228L	probably damaging	Het
Cgn	G	A	3: 94,686,559 (GRCm39)	Q248*	probably null	Het
Cux2	G	A	5: 122,023,997 (GRCm39)	T92M	possibly damaging	Het
Cyb5r4	A	G	9: 86,941,482 (GRCm39)	K68E	probably benign	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Dnah9	T	C	11: 65,846,558 (GRCm39)	N2918S	probably benign	Het
Dyrk1b	T	C	7: 27,885,176 (GRCm39)	V438A	probably damaging	Het
Eml1	G	A	12: 108,500,972 (GRCm39)	D625N	probably damaging	Het
Eno2	T	C	6: 124,740,889 (GRCm39)		probably null	Het
Ephb3	G	A	16: 21,040,958 (GRCm39)	G672D	probably damaging	Het
Evx1	A	T	6: 52,291,182 (GRCm39)	D118V	probably damaging	Het
Fbxl13	A	G	5: 21,787,037 (GRCm39)	L300S	probably damaging	Het
Fbxo30	T	C	10: 11,166,837 (GRCm39)	F520L	probably damaging	Het
Flt3	G	A	5: 147,286,403 (GRCm39)	P728S	possibly damaging	Het
Gas2l2	T	C	11: 83,314,001 (GRCm39)	E437G	possibly damaging	Het
Gldc	A	T	19: 30,138,102 (GRCm39)		probably benign	Het
Gm18856	T	C	13: 14,140,232 (GRCm39)		probably benign	Het
Gm7358	A	T	17: 14,279,410 (GRCm39)		noncoding transcript	Het
Grifin	A	G	5: 140,550,300 (GRCm39)	V47A	possibly damaging	Het
H3c7	T	C	13: 23,728,923 (GRCm39)	V90A	probably benign	Het
Hddc2	G	T	10: 31,204,016 (GRCm39)		probably benign	Het
Hkdc1	T	A	10: 62,236,242 (GRCm39)	R433S	probably benign	Het
Htt	A	G	5: 35,063,476 (GRCm39)	D2918G	probably benign	Het
Itga2	A	C	13: 115,009,805 (GRCm39)	D383E	probably benign	Het
Itpr1	G	A	6: 108,458,254 (GRCm39)	C2007Y	probably damaging	Het
Krt42	C	A	11: 100,160,671 (GRCm39)	Q9H	probably damaging	Het
Lyrm7	T	C	11: 54,739,434 (GRCm39)	Q72R	probably damaging	Het
Mmp9	A	G	2: 164,793,122 (GRCm39)	S424G	probably benign	Het
Mtr	A	G	13: 12,242,679 (GRCm39)	V457A	probably damaging	Het
Myo15b	T	C	11: 115,781,523 (GRCm39)	L1359P	probably damaging	Het
Neb	A	G	2: 52,117,311 (GRCm39)	L4087P	probably damaging	Het
Npl	T	C	1: 153,391,152 (GRCm39)	D201G	probably damaging	Het
Or8b1c	C	A	9: 38,384,120 (GRCm39)	P26T	probably damaging	Het
Or8k3	A	G	2: 86,059,037 (GRCm39)	S93P	probably benign	Het
Pclo	T	C	5: 14,732,397 (GRCm39)		probably benign	Het
Pdp2	A	G	8: 105,321,168 (GRCm39)	D339G	probably benign	Het
Pfdn6	A	T	17: 34,159,014 (GRCm39)	Y16*	probably null	Het
Pilra	C	T	5: 137,833,588 (GRCm39)		probably null	Het
Prrc2a	A	T	17: 35,374,590 (GRCm39)	N1353K	probably benign	Het
Prss3l	T	A	6: 41,422,984 (GRCm39)	I6F	probably benign	Het
Ptger4	C	A	15: 5,272,545 (GRCm39)	A50S	probably benign	Het
Pus10	T	C	11: 23,622,707 (GRCm39)	V109A	probably benign	Het
Pus3	A	C	9: 35,476,228 (GRCm39)	D39A	probably benign	Het
Rab44	A	G	17: 29,358,168 (GRCm39)	N119D	probably benign	Het
Rasgrp2	T	C	19: 6,454,876 (GRCm39)		probably benign	Het
Rhobtb2	T	A	14: 70,033,438 (GRCm39)	I511F	probably damaging	Het
Sfxn1	C	A	13: 54,246,457 (GRCm39)	A167D	probably benign	Het
Slc12a6	A	G	2: 112,188,111 (GRCm39)		probably null	Het
Smyd4	C	T	11: 75,281,558 (GRCm39)	L344F	probably damaging	Het
Srsf11	A	G	3: 157,728,972 (GRCm39)	V93A	probably benign	Het
Tle1	A	G	4: 72,063,581 (GRCm39)	I224T	possibly damaging	Het
Tmc6	A	T	11: 117,663,868 (GRCm39)	S479R	possibly damaging	Het
Tmprss4	T	C	9: 45,087,702 (GRCm39)	M296V	probably benign	Het
Togaram1	A	G	12: 65,013,894 (GRCm39)	N382D	possibly damaging	Het
Tpcn1	A	G	5: 120,677,322 (GRCm39)	S662P	probably damaging	Het
Tppp	G	T	13: 74,178,983 (GRCm39)	R141S	probably benign	Het
Ttc21a	A	G	9: 119,790,828 (GRCm39)	D858G	possibly damaging	Het
Tuba3a	A	G	6: 125,258,130 (GRCm39)	S287P	possibly damaging	Het
Unc80	T	G	1: 66,710,821 (GRCm39)	S2697A	probably benign	Het
Vmn1r69	A	G	7: 10,314,026 (GRCm39)	V235A	probably benign	Het
Vmn2r26	T	A	6: 124,038,375 (GRCm39)	I650N	probably damaging	Het
Vmn2r53	G	A	7: 12,315,932 (GRCm39)	T629I	possibly damaging	Het
Vmn2r74	T	C	7: 85,610,555 (GRCm39)	T46A	probably benign	Het
Vmn2r84	A	T	10: 130,229,973 (GRCm39)	C46*	probably null	Het
Vps13b	T	C	15: 35,770,835 (GRCm39)	S2093P	probably benign	Het
Wdfy4	T	C	14: 32,711,893 (GRCm39)	R2375G	probably damaging	Het
Wnk2	T	G	13: 49,210,359 (GRCm39)	E1820A	probably damaging	Het

Other mutations in Or1af1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01691:Or1af1	APN	2	37,110,038 (GRCm39)	missense	probably damaging	1.00
IGL01925:Or1af1	APN	2	37,110,058 (GRCm39)	missense	probably benign	0.14
IGL02355:Or1af1	APN	2	37,109,681 (GRCm39)	missense	probably damaging	1.00
IGL02362:Or1af1	APN	2	37,109,681 (GRCm39)	missense	probably damaging	1.00
IGL02671:Or1af1	APN	2	37,110,257 (GRCm39)	missense	probably damaging	1.00
IGL02821:Or1af1	APN	2	37,110,112 (GRCm39)	missense	probably damaging	1.00
R0603:Or1af1	UTSW	2	37,110,118 (GRCm39)	missense	probably damaging	1.00
R0707:Or1af1	UTSW	2	37,110,208 (GRCm39)	nonsense	probably null
R1204:Or1af1	UTSW	2	37,109,651 (GRCm39)	missense	probably benign
R1457:Or1af1	UTSW	2	37,109,671 (GRCm39)	missense	possibly damaging	0.95
R1509:Or1af1	UTSW	2	37,109,966 (GRCm39)	missense	probably damaging	1.00
R1676:Or1af1	UTSW	2	37,109,653 (GRCm39)	nonsense	probably null
R1823:Or1af1	UTSW	2	37,110,344 (GRCm39)	missense	probably damaging	0.96
R2163:Or1af1	UTSW	2	37,110,089 (GRCm39)	missense	probably damaging	1.00
R2909:Or1af1	UTSW	2	37,110,188 (GRCm39)	missense	probably damaging	0.98
R3696:Or1af1	UTSW	2	37,110,188 (GRCm39)	missense	probably damaging	0.98
R3698:Or1af1	UTSW	2	37,110,188 (GRCm39)	missense	probably damaging	0.98
R4004:Or1af1	UTSW	2	37,109,960 (GRCm39)	missense	probably benign	0.00
R5311:Or1af1	UTSW	2	37,109,633 (GRCm39)	missense	probably benign	0.00
R5385:Or1af1	UTSW	2	37,109,599 (GRCm39)	missense	possibly damaging	0.77
R5433:Or1af1	UTSW	2	37,109,684 (GRCm39)	missense	probably damaging	1.00
R5499:Or1af1	UTSW	2	37,109,777 (GRCm39)	missense	possibly damaging	0.81
R5707:Or1af1	UTSW	2	37,109,901 (GRCm39)	missense	probably benign	0.00
R6330:Or1af1	UTSW	2	37,110,136 (GRCm39)	missense	probably benign	0.00
R6338:Or1af1	UTSW	2	37,109,834 (GRCm39)	missense	probably damaging	1.00
R6666:Or1af1	UTSW	2	37,110,331 (GRCm39)	missense	probably damaging	1.00
R6872:Or1af1	UTSW	2	37,109,989 (GRCm39)	missense	possibly damaging	0.60
R7412:Or1af1	UTSW	2	37,109,774 (GRCm39)	missense	possibly damaging	0.48
R7789:Or1af1	UTSW	2	37,109,672 (GRCm39)	missense	probably benign	0.01
R7831:Or1af1	UTSW	2	37,109,723 (GRCm39)	missense	probably damaging	0.98
R8220:Or1af1	UTSW	2	37,109,791 (GRCm39)	missense	probably benign	0.06
R8391:Or1af1	UTSW	2	37,110,277 (GRCm39)	missense	probably damaging	1.00
R8708:Or1af1	UTSW	2	37,109,956 (GRCm39)	missense	probably damaging	1.00
R9049:Or1af1	UTSW	2	37,109,959 (GRCm39)	missense	probably damaging	0.98
R9231:Or1af1	UTSW	2	37,109,989 (GRCm39)	missense	possibly damaging	0.60
R9294:Or1af1	UTSW	2	37,110,122 (GRCm39)	missense	possibly damaging	0.63
R9471:Or1af1	UTSW	2	37,110,400 (GRCm39)	missense	probably damaging	1.00
R9595:Or1af1	UTSW	2	37,110,281 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGACATCTGCTTTACCACTG -3'
(R):5'- TCTGTGAAGGCCAAGAGCTC -3'

Sequencing Primer
(F):5'- ACTGTCATCGTGCCACAGATG -3'
(R):5'- CCAAGAGCTCATTGATAGAGGTGTC -3'

Posted On

2015-10-08