Mutagenetix > Incidental Mutation

Incidental Mutation 'R1221:Or8g22'

100107

Institutional Source

Beutler Lab

Gene Symbol

Or8g22

Ensembl Gene

ENSMUSG00000095194

Gene Name

olfactory receptor family 8 subfamily G member 22, pseudogene 1

Synonyms

Olfr936, MOR171-37, EG628171, GA_x6K02T2PVTD-32743332-32742397

MMRRC Submission

039290-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R1221 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38957910-38958845 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 38958483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 77 (D77E)

Ref Sequence

ENSEMBL: ENSMUSP00000137209 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178303] [ENSMUST00000216912]

AlphaFold

J3KMV2

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104850

Predicted Effect

probably damaging
Transcript: ENSMUST00000178303
AA Change: D77E

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

SMART Domains

Protein: ENSMUSP00000137209
Gene: ENSMUSG00000095194
AA Change: D77E

Domain	Start	End	E-Value	Type
Pfam:7tm_1	1	246	6e-21	PFAM
Pfam:7tm_4	1	264	6.9e-49	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000216912
AA Change: S122A

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 94.0%

Validation Efficiency

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, Feb 2010]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,942,460 (GRCm39)	S668P	unknown	Het
Anks1	A	G	17: 28,269,616 (GRCm39)	Q770R	possibly damaging	Het
Apc2	G	A	10: 80,142,214 (GRCm39)	V378I	probably damaging	Het
Apeh	A	G	9: 107,969,808 (GRCm39)	V184A	probably benign	Het
AU018091	A	G	7: 3,208,717 (GRCm39)	F404S	probably damaging	Het
Bap1	T	C	14: 30,979,608 (GRCm39)	L537P	probably damaging	Het
Bhlha15	A	G	5: 144,128,341 (GRCm39)	Y151C	probably damaging	Het
Bmp8b	A	T	4: 123,008,504 (GRCm39)	T157S	probably damaging	Het
Btbd1	G	T	7: 81,468,005 (GRCm39)	H172N	possibly damaging	Het
C1rl	A	G	6: 124,470,940 (GRCm39)	R83G	probably benign	Het
Cep104	A	G	4: 154,072,902 (GRCm39)	T387A	probably benign	Het
Cfi	A	T	3: 129,666,618 (GRCm39)	Q447L	probably damaging	Het
Cimap1a	G	T	7: 140,428,296 (GRCm39)	W10L	probably damaging	Het
Coq6	A	G	12: 84,418,301 (GRCm39)	E295G	possibly damaging	Het
Dclre1a	T	C	19: 56,519,700 (GRCm39)	T978A	possibly damaging	Het
Dlc1	T	C	8: 37,051,985 (GRCm39)	D582G	probably benign	Het
Dlgap2	A	G	8: 14,776,952 (GRCm39)	T65A	probably benign	Het
Dock5	G	A	14: 67,996,610 (GRCm39)	S1711L	probably benign	Het
Drc3	A	C	11: 60,275,052 (GRCm39)	I338L	probably benign	Het
Dsc1	A	T	18: 20,247,599 (GRCm39)	C5*	probably null	Het
F5	A	G	1: 163,989,368 (GRCm39)	Y90C	probably damaging	Het
Gdf10	G	A	14: 33,654,710 (GRCm39)	A406T	probably benign	Het
Gm136	G	T	4: 34,744,127 (GRCm39)	A239E	possibly damaging	Het
Gm4952	A	T	19: 12,601,059 (GRCm39)	D93V	possibly damaging	Het
Gramd1c	T	C	16: 43,810,227 (GRCm39)	T454A	possibly damaging	Het
Gstm6	A	G	3: 107,848,418 (GRCm39)	I58T	probably damaging	Het
Kdm3b	C	T	18: 34,941,298 (GRCm39)	S263L	possibly damaging	Het
Kdm5b	G	C	1: 134,526,829 (GRCm39)	S317T	probably damaging	Het
Myo15b	A	G	11: 115,777,546 (GRCm39)	R71G	possibly damaging	Het
Nlrp1b	G	A	11: 71,072,290 (GRCm39)	P518S	probably benign	Het
Nme5	A	T	18: 34,704,575 (GRCm39)	I90N	probably damaging	Het
Nrxn1	T	A	17: 90,950,722 (GRCm39)	T478S	probably damaging	Het
Osmr	G	A	15: 6,853,042 (GRCm39)	Q617*	probably null	Het
Pcsk5	T	C	19: 17,814,512 (GRCm39)	D2G	possibly damaging	Het
Pdpn	G	A	4: 143,000,608 (GRCm39)	R75C	probably damaging	Het
Pidd1	A	T	7: 141,018,725 (GRCm39)	F842Y	probably damaging	Het
Resf1	T	A	6: 149,227,719 (GRCm39)	V255E	probably benign	Het
Sema3a	A	G	5: 13,566,190 (GRCm39)	Q158R	probably benign	Het
Setbp1	T	A	18: 78,899,798 (GRCm39)	R1290W	probably damaging	Het
Slc20a1	G	A	2: 129,050,324 (GRCm39)	G494D	probably benign	Het
Spag17	A	G	3: 99,889,584 (GRCm39)	E151G	possibly damaging	Het
Stt3b	A	G	9: 115,086,567 (GRCm39)	F351L	probably benign	Het
Tas1r2	A	G	4: 139,396,436 (GRCm39)	M592V	probably benign	Het
Tbcd	A	G	11: 121,387,909 (GRCm39)	T347A	probably benign	Het
Tmem109	C	A	19: 10,851,733 (GRCm39)	R37L	possibly damaging	Het
Tmem67	G	A	4: 12,045,871 (GRCm39)	S862L	possibly damaging	Het
Ttn	T	A	2: 76,781,857 (GRCm39)	D1017V	probably damaging	Het
Zfp646	G	A	7: 127,482,292 (GRCm39)	G1490S	probably benign	Het
Zfyve16	T	C	13: 92,644,813 (GRCm39)	S1130G	possibly damaging	Het

Other mutations in Or8g22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01928:Or8g22	APN	9	38,958,709 (GRCm39)	missense	unknown
R0086:Or8g22	UTSW	9	38,958,191 (GRCm39)	missense	probably benign	0.00
R0561:Or8g22	UTSW	9	38,958,669 (GRCm39)	missense	probably damaging	0.99
R0650:Or8g22	UTSW	9	38,957,996 (GRCm39)	missense	probably benign	0.01
R1384:Or8g22	UTSW	9	38,958,200 (GRCm39)	missense	possibly damaging	0.70
R1680:Or8g22	UTSW	9	38,958,296 (GRCm39)	missense	probably benign	0.43
R1733:Or8g22	UTSW	9	38,958,678 (GRCm39)	missense	unknown
R3767:Or8g22	UTSW	9	38,958,707 (GRCm39)	missense	unknown
R4786:Or8g22	UTSW	9	38,958,783 (GRCm39)	nonsense	probably null
R4944:Or8g22	UTSW	9	38,958,158 (GRCm39)	missense	probably damaging	1.00
R5186:Or8g22	UTSW	9	38,958,265 (GRCm39)	nonsense	probably null
R5403:Or8g22	UTSW	9	38,957,999 (GRCm39)	missense	probably damaging	1.00
R6037:Or8g22	UTSW	9	38,958,403 (GRCm39)	missense	probably damaging	1.00
R6037:Or8g22	UTSW	9	38,958,403 (GRCm39)	missense	probably damaging	1.00
R6156:Or8g22	UTSW	9	38,958,671 (GRCm39)	missense	possibly damaging	0.90
R6217:Or8g22	UTSW	9	38,958,039 (GRCm39)	makesense	probably null
R6711:Or8g22	UTSW	9	38,958,162 (GRCm39)	makesense	probably null
R6919:Or8g22	UTSW	9	38,958,827 (GRCm39)	utr 5 prime	probably benign
R7022:Or8g22	UTSW	9	38,958,379 (GRCm39)	nonsense	probably null
R7275:Or8g22	UTSW	9	38,958,815 (GRCm39)	utr 5 prime	probably benign
R7290:Or8g22	UTSW	9	38,958,694 (GRCm39)	missense	unknown
R7644:Or8g22	UTSW	9	38,958,638 (GRCm39)	missense	probably damaging	1.00
R8906:Or8g22	UTSW	9	38,958,077 (GRCm39)	missense	possibly damaging	0.87
R9099:Or8g22	UTSW	9	38,958,026 (GRCm39)	missense	probably benign	0.00
Z1176:Or8g22	UTSW	9	38,958,215 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTCAGATACATAAATGCAGCAGAACCGA -3'
(R):5'- GCTGGGGAACCTGGGCATGAT -3'

Sequencing Primer
(F):5'- GATCTTCCCTCAGTAGATTTAATGCG -3'
(R):5'- GATCATCCTGATCCTGCTCAGC -3'

Posted On

2014-01-15