Mutagenetix > Incidental Mutation

Incidental Mutation 'R7829:Or1o2'

602350

Institutional Source

Beutler Lab

Gene Symbol

Or1o2

Ensembl Gene

ENSMUSG00000058802

Gene Name

olfactory receptor family 1 subfamily O member 2

Synonyms

MOR156-2, GA_x6K02T2PSCP-1672287-1671355, Olfr97

MMRRC Submission

045883-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R7829 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37542327-37543259 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37543201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 20 (E20G)

Ref Sequence

ENSEMBL: ENSMUSP00000151044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073667] [ENSMUST00000207414] [ENSMUST00000213328] [ENSMUST00000214622] [ENSMUST00000214848] [ENSMUST00000216225]

AlphaFold

Q8VFE1

Predicted Effect

probably benign
Transcript: ENSMUST00000073667
AA Change: E20G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000094937
Gene: ENSMUSG00000058802
AA Change: E20G

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srv	24	305	4.5e-9	PFAM
Pfam:7tm_4	29	306	1.4e-54	PFAM
Pfam:7TM_GPCR_Srsx	33	303	1.1e-5	PFAM
Pfam:7tm_1	39	288	8.6e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207414
AA Change: E20G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000213328
AA Change: E20G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000214622
AA Change: E20G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000214848
AA Change: E20G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000216225
AA Change: E20G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (61/63)

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
2810021J22Rik	C	G	11: 58,770,823 (GRCm39)	L102V	not run	Het
Abca12	A	T	1: 71,331,580 (GRCm39)	S1323R	probably benign	Het
Abcb1a	T	A	5: 8,748,623 (GRCm39)	I318N	probably benign	Het
Adam10	A	T	9: 70,674,209 (GRCm39)	K524*	probably null	Het
Adamts3	C	T	5: 90,009,349 (GRCm39)	G105R	probably damaging	Het
Adcy7	T	C	8: 89,042,387 (GRCm39)	I418T	probably damaging	Het
Alg9	T	A	9: 50,699,471 (GRCm39)	F165L	probably damaging	Het
Anapc2	G	T	2: 25,167,753 (GRCm39)	R440L	probably damaging	Het
Arhgef17	A	T	7: 100,526,052 (GRCm39)	H1876Q	probably benign	Het
Armc2	G	A	10: 41,802,856 (GRCm39)	R606C	probably benign	Het
Cd163	T	C	6: 124,281,738 (GRCm39)	S14P	probably benign	Het
Cfap74	T	C	4: 155,513,694 (GRCm39)	V502A		Het
Copb2	T	C	9: 98,470,147 (GRCm39)	I891T	probably damaging	Het
Creb3	T	C	4: 43,566,322 (GRCm39)	L276P	probably damaging	Het
Crnkl1	T	A	2: 145,773,269 (GRCm39)	M126L	probably benign	Het
Csrp2	C	T	10: 110,771,045 (GRCm39)	A50V	probably damaging	Het
Ctsd	A	G	7: 141,930,879 (GRCm39)	C284R	probably damaging	Het
Dll3	G	A	7: 27,994,075 (GRCm39)	A454V	probably damaging	Het
Dmbx1	C	T	4: 115,781,104 (GRCm39)		probably benign	Het
Dnah6	C	A	6: 73,104,902 (GRCm39)	E1896*	probably null	Het
Dtwd1	A	G	2: 126,006,679 (GRCm39)	T234A	probably damaging	Het
Fhod3	G	A	18: 25,248,947 (GRCm39)		probably null	Het
Gm10549	C	A	18: 33,597,463 (GRCm39)		probably benign	Het
Gm7298	T	C	6: 121,742,297 (GRCm39)	I495T	probably damaging	Het
Grhl3	T	C	4: 135,288,532 (GRCm39)	N51S	probably damaging	Het
Gtpbp4	A	T	13: 9,035,366 (GRCm39)		probably null	Het
Hsd17b14	A	C	7: 45,216,209 (GRCm39)	S260R	probably benign	Het
Insig2	A	T	1: 121,235,058 (GRCm39)		probably null	Het
Itgae	T	A	11: 73,029,618 (GRCm39)	V1046D	probably benign	Het
Kif1b	A	T	4: 149,305,447 (GRCm39)		probably null	Het
Kmo	A	G	1: 175,478,225 (GRCm39)		probably null	Het
Loxhd1	A	G	18: 77,496,483 (GRCm39)	N29S	probably damaging	Het
Lrp1b	A	T	2: 40,793,460 (GRCm39)	C2484*	probably null	Het
Lrrc23	T	A	6: 124,747,711 (GRCm39)	M293L	probably benign	Het
Mphosph6	T	C	8: 118,525,807 (GRCm39)	D47G	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Naglu	G	A	11: 100,967,436 (GRCm39)	R462H	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nlrc5	T	C	8: 95,248,397 (GRCm39)	S1711P	probably damaging	Het
Or10al7	T	C	17: 38,366,220 (GRCm39)	Y79C	possibly damaging	Het
Or6k2	A	T	1: 173,986,425 (GRCm39)	I29F	probably benign	Het
Osbpl6	G	A	2: 76,423,731 (GRCm39)	A857T	probably damaging	Het
Oscp1	C	A	4: 125,982,201 (GRCm39)	D380E	probably benign	Het
Pdzd7	C	A	19: 45,027,678 (GRCm39)	R265S	probably benign	Het
Piezo2	A	T	18: 63,246,947 (GRCm39)		probably null	Het
Pigc	G	A	1: 161,798,033 (GRCm39)	R5H	probably benign	Het
Pla2g5	C	A	4: 138,531,845 (GRCm39)	R53L	probably benign	Het
Rbm6	T	C	9: 107,729,905 (GRCm39)	R248G	probably damaging	Het
Rev1	A	T	1: 38,095,526 (GRCm39)	L877Q	probably damaging	Het
Rpap3	A	T	15: 97,579,589 (GRCm39)	N474K	probably benign	Het
Ryr2	T	A	13: 11,842,493 (GRCm39)	E468V	possibly damaging	Het
Samd9l	A	C	6: 3,374,749 (GRCm39)	D837E	probably benign	Het
Sipa1l2	T	C	8: 126,178,727 (GRCm39)	N1124S	probably damaging	Het
Slc11a2	G	A	15: 100,307,142 (GRCm39)	A83V	possibly damaging	Het
Slfn14	A	G	11: 83,172,643 (GRCm39)		probably null	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Suclg1	A	G	6: 73,252,226 (GRCm39)		probably null	Het
Syne1	A	C	10: 5,292,293 (GRCm39)	V1325G	probably damaging	Het
Tmprss15	T	C	16: 78,784,538 (GRCm39)	S706G	probably benign	Het
Tox2	T	C	2: 163,162,296 (GRCm39)	Y389H	probably damaging	Het
Trappc10	T	C	10: 78,034,909 (GRCm39)	T946A	probably benign	Het
Ubqln1	C	T	13: 58,325,719 (GRCm39)	E546K	probably damaging	Het
Zfp106	A	G	2: 120,354,538 (GRCm39)	V1411A	possibly damaging	Het
Zkscan5	A	T	5: 145,155,513 (GRCm39)	K395*	probably null	Het

Other mutations in Or1o2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01934:Or1o2	APN	17	37,542,439 (GRCm39)	missense	probably damaging	1.00
IGL02424:Or1o2	APN	17	37,543,263 (GRCm39)	start gained	probably benign
IGL03129:Or1o2	APN	17	37,543,087 (GRCm39)	missense	probably damaging	1.00
R0619:Or1o2	UTSW	17	37,543,046 (GRCm39)	missense	possibly damaging	0.92
R0811:Or1o2	UTSW	17	37,543,223 (GRCm39)	missense	probably benign	0.00
R0812:Or1o2	UTSW	17	37,543,223 (GRCm39)	missense	probably benign	0.00
R1122:Or1o2	UTSW	17	37,542,934 (GRCm39)	missense	probably damaging	1.00
R1927:Or1o2	UTSW	17	37,542,434 (GRCm39)	missense	probably damaging	1.00
R1997:Or1o2	UTSW	17	37,542,523 (GRCm39)	missense	probably damaging	1.00
R3771:Or1o2	UTSW	17	37,542,356 (GRCm39)	missense	possibly damaging	0.53
R3775:Or1o2	UTSW	17	37,543,121 (GRCm39)	missense	probably damaging	0.98
R4182:Or1o2	UTSW	17	37,542,739 (GRCm39)	missense	possibly damaging	0.93
R4183:Or1o2	UTSW	17	37,542,739 (GRCm39)	missense	possibly damaging	0.93
R4184:Or1o2	UTSW	17	37,542,739 (GRCm39)	missense	possibly damaging	0.93
R4198:Or1o2	UTSW	17	37,543,025 (GRCm39)	missense	probably benign	0.01
R7453:Or1o2	UTSW	17	37,542,871 (GRCm39)	missense	probably damaging	1.00
R7615:Or1o2	UTSW	17	37,542,341 (GRCm39)	missense	probably benign	0.25
R8223:Or1o2	UTSW	17	37,542,727 (GRCm39)	missense	possibly damaging	0.89
R8526:Or1o2	UTSW	17	37,542,470 (GRCm39)	missense	probably damaging	0.97
R9098:Or1o2	UTSW	17	37,542,961 (GRCm39)	missense	probably benign	0.12
Z1177:Or1o2	UTSW	17	37,543,187 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTCAGGCATCCAGAGAACG -3'
(R):5'- GAATTGGTGCTTTTAGGGAAAACC -3'

Sequencing Primer
(F):5'- CACAGAGTCTCCAGCATTTTAGGG -3'
(R):5'- GTGCTTTTAGGGAAAACCATTGC -3'

Posted On

2019-12-03