Mutagenetix > Incidental Mutation

Incidental Mutation 'R9049:Or1af1'

688217

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

068875-MU

Accession Numbers

Essential gene?

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

Stock #

R9049 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37109503-37110432 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 37109959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Aspartic acid at position 153 (H153D)

Ref Sequence

ENSEMBL: ENSMUSP00000150608 (fasta)

Gene Model

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

AlphaFold

Q7TRY4

Predicted Effect

probably damaging
Transcript: ENSMUST00000091001
AA Change: H153D

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000088524
Gene: ENSMUSG00000068947
AA Change: H153D

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 damaging
Transcript: ENSMUST00000214897
AA Change: H153D

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	A	G	1: 120,115,900 (GRCm39)	I118V	probably null	Het
Abcc9	A	G	6: 142,628,658 (GRCm39)	L362P	probably damaging	Het
Adam7	C	A	14: 68,762,674 (GRCm39)	V184F	probably benign	Het
Adgre4	T	C	17: 56,092,094 (GRCm39)	I118T	probably benign	Het
Akap9	T	C	5: 4,114,597 (GRCm39)	L3292P		Het
Akr1b10	A	G	6: 34,373,561 (GRCm39)	E308G	possibly damaging	Het
Aopep	A	G	13: 63,208,852 (GRCm39)	Y323C	probably benign	Het
Ash1l	T	C	3: 88,914,671 (GRCm39)	V1767A	probably benign	Het
Bpifb3	C	A	2: 153,767,810 (GRCm39)	N294K	probably benign	Het
Bpifb5	A	G	2: 154,070,096 (GRCm39)	N182S	probably benign	Het
C9orf72	A	G	4: 35,192,964 (GRCm39)	I455T	unknown	Het
Camkmt	A	G	17: 85,709,912 (GRCm39)	I205M	possibly damaging	Het
Ccdc88b	C	T	19: 6,826,442 (GRCm39)	R1091Q	probably benign	Het
Cfap58	A	T	19: 48,015,157 (GRCm39)		probably null	Het
Clca3a1	T	A	3: 144,733,143 (GRCm39)	I122L	probably benign	Het
Col6a3	T	A	1: 90,707,066 (GRCm39)	S2623C	unknown	Het
Cpne5	A	G	17: 29,379,332 (GRCm39)	S484P	probably damaging	Het
Cyp4f39	T	A	17: 32,705,965 (GRCm39)	L352Q	probably damaging	Het
Dcun1d1	T	C	3: 35,951,998 (GRCm39)	N183D	probably benign	Het
Dgkg	A	G	16: 22,419,338 (GRCm39)	V54A	probably benign	Het
Dnah12	T	A	14: 26,443,275 (GRCm39)	D561E	probably benign	Het
Dnah6	A	C	6: 73,119,275 (GRCm39)	L1536R	probably damaging	Het
Gm21834	G	A	17: 58,048,826 (GRCm39)	T130I	possibly damaging	Het
Hectd4	T	A	5: 121,451,955 (GRCm39)	V434E	possibly damaging	Het
Htr3a	C	A	9: 48,811,087 (GRCm39)	V459L	probably damaging	Het
Lonp2	T	C	8: 87,435,735 (GRCm39)	V657A	probably benign	Het
Mdfi	C	A	17: 48,135,479 (GRCm39)	V84L	probably damaging	Het
Mdm1	C	T	10: 117,982,605 (GRCm39)	T80M	probably benign	Het
Muc5ac	A	C	7: 141,362,712 (GRCm39)	I2008L	unknown	Het
Nomo1	A	G	7: 45,715,597 (GRCm39)	D681G	probably benign	Het
Or10g9	G	T	9: 39,911,919 (GRCm39)	N201K	possibly damaging	Het
Or14j6	G	A	17: 38,214,764 (GRCm39)	W109*	probably null	Het
Or1p1c	A	G	11: 74,161,115 (GRCm39)	K300R	possibly damaging	Het
Or5h25	T	G	16: 58,930,763 (GRCm39)	D70A	probably damaging	Het
Or5m5	A	G	2: 85,814,235 (GRCm39)	E17G	possibly damaging	Het
Or7e169	T	C	9: 19,757,045 (GRCm39)	Y290C	probably damaging	Het
Pip5k1c	C	A	10: 81,152,710 (GRCm39)		probably benign	Het
Pipox	A	G	11: 77,772,380 (GRCm39)	I330T	probably damaging	Het
Pira13	T	A	7: 3,819,890 (GRCm39)	T676S	unknown	Het
Pld3	C	T	7: 27,235,293 (GRCm39)	V312M	possibly damaging	Het
Pnisr	T	A	4: 21,854,391 (GRCm39)	W12R	unknown	Het
Polr3e	A	G	7: 120,538,462 (GRCm39)	K410R	probably benign	Het
Ppif	G	T	14: 25,694,836 (GRCm39)	V61L	possibly damaging	Het
Pramel5	T	C	4: 144,000,486 (GRCm39)	N30S	probably benign	Het
Prex2	T	G	1: 11,256,130 (GRCm39)	L1167R	probably damaging	Het
Prkacb	A	T	3: 146,461,518 (GRCm39)		probably benign	Het
Prl3a1	T	A	13: 27,460,167 (GRCm39)	L217H	probably damaging	Het
Prop1	G	C	11: 50,842,948 (GRCm39)	Q80E	probably damaging	Het
Psma1	T	C	7: 113,865,764 (GRCm39)	I214V	probably benign	Het
Ptgfr	T	A	3: 151,541,404 (GRCm39)	I35F	probably benign	Het
Rcvrn	A	T	11: 67,586,568 (GRCm39)	Y109F	probably benign	Het
Repin1	A	G	6: 48,574,646 (GRCm39)	D525G	possibly damaging	Het
Slc12a2	A	T	18: 58,054,863 (GRCm39)	R835*	probably null	Het
Sqle	T	C	15: 59,189,711 (GRCm39)	F118L	probably benign	Het
Stard9	A	T	2: 120,510,418 (GRCm39)	Y333F	probably benign	Het
Tbc1d16	G	A	11: 119,100,090 (GRCm39)	R95C	probably damaging	Het
Tln1	C	A	4: 43,549,786 (GRCm39)	E542*	probably null	Het
Tmem161b	G	T	13: 84,442,754 (GRCm39)	A407S	probably benign	Het
Tnc	G	T	4: 63,918,247 (GRCm39)	D1221E	possibly damaging	Het
Tnks	T	C	8: 35,308,932 (GRCm39)	K1109R	probably damaging	Het
Tpp2	T	C	1: 43,992,502 (GRCm39)	V194A	possibly damaging	Het
Ust	G	A	10: 8,183,218 (GRCm39)	Q162*	probably null	Het
Utp15	T	C	13: 98,395,778 (GRCm39)	Y68C	probably damaging	Het
Vcan	A	T	13: 89,826,224 (GRCm39)	H3193Q	probably damaging	Het
Vmn2r55	T	C	7: 12,418,908 (GRCm39)	Y4C	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
R4655:Or1af1	UTSW	2	37,109,885 (GRCm39)	missense	probably benign	0.03
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
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'- CGTGCCACAGATGTTAGTGAAC -3'
(R):5'- AAGGGCTCATGATTACAACAGAGC -3'

Sequencing Primer
(F):5'- CCACAGATGTTAGTGAACTTGCTGAC -3'
(R):5'- CCCTCTGTGAAGGCCAAGAG -3'

Posted On

2021-11-19