Mutagenetix > Incidental Mutation

Incidental Mutation 'R1384:Or8g22'

163169

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

039446-MU

Accession Numbers

Essential gene?

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

Stock #

R1384 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38957910-38958845 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38958200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 172 (I172F)

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

possibly damaging
Transcript: ENSMUST00000178303
AA Change: I172F

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000137209
Gene: ENSMUSG00000095194
AA Change: I172F

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: H216L

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.1%

Validation Efficiency

96% (54/56)

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
4930408O17Rik	G	A	12: 104,837,451 (GRCm39)		noncoding transcript	Het
A930033H14Rik	A	G	10: 69,048,191 (GRCm39)		probably benign	Het
Abcf3	G	A	16: 20,378,053 (GRCm39)	G522R	probably damaging	Het
Abi3bp	A	G	16: 56,394,862 (GRCm39)	Y190C	probably damaging	Het
Alg10b	A	G	15: 90,111,785 (GRCm39)	K210E	possibly damaging	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
C9	G	A	15: 6,488,415 (GRCm39)	V90I	probably benign	Het
Cacna1s	A	G	1: 136,022,709 (GRCm39)	I634V	probably benign	Het
Catip	A	G	1: 74,403,522 (GRCm39)	D153G	probably benign	Het
Cpt1c	G	A	7: 44,610,348 (GRCm39)		probably benign	Het
Cyp2c23	A	G	19: 44,002,102 (GRCm39)	S296P	probably damaging	Het
Cyp2d41-ps	G	A	15: 82,663,718 (GRCm39)		noncoding transcript	Het
Edc4	T	A	8: 106,619,014 (GRCm39)	I1327N	probably damaging	Het
Fbxl18	G	A	5: 142,871,978 (GRCm39)	A419V	probably damaging	Het
Filip1l	A	G	16: 57,391,652 (GRCm39)	K509E	possibly damaging	Het
Golga4	A	G	9: 118,394,719 (GRCm39)	E96G	probably damaging	Het
Grid2ip	T	G	5: 143,371,851 (GRCm39)		probably null	Het
Gucy1a2	A	C	9: 3,759,620 (GRCm39)	E475D	probably damaging	Het
Hipk1	A	G	3: 103,666,090 (GRCm39)		probably benign	Het
Ica1	G	A	6: 8,742,262 (GRCm39)	Q124*	probably null	Het
Igsf3	T	C	3: 101,358,612 (GRCm39)		probably null	Het
Matn2	A	G	15: 34,409,956 (GRCm39)	E462G	probably benign	Het
Men1	T	C	19: 6,389,921 (GRCm39)	S464P	probably benign	Het
Mrgpra2b	T	A	7: 47,113,742 (GRCm39)	E330V	probably damaging	Het
Myoz2	A	T	3: 122,819,765 (GRCm39)	S65T	probably damaging	Het
Nckap1	A	G	2: 80,364,014 (GRCm39)	M492T	possibly damaging	Het
Nhsl1	A	T	10: 18,284,261 (GRCm39)	K67N	probably null	Het
Nostrin	A	G	2: 69,019,406 (GRCm39)	R484G	probably benign	Het
Otog	T	A	7: 45,923,119 (GRCm39)		probably benign	Het
P2rx5	A	G	11: 73,058,716 (GRCm39)	Y300C	probably damaging	Het
Pars2	T	C	4: 106,510,913 (GRCm39)	F232L	possibly damaging	Het
Pi4ka	A	G	16: 17,115,401 (GRCm39)		probably benign	Het
Pld3	A	G	7: 27,237,082 (GRCm39)	S266P	probably benign	Het
Pole	G	A	5: 110,471,530 (GRCm39)	V1425M	possibly damaging	Het
Prss43	A	G	9: 110,656,510 (GRCm39)	I66V	probably benign	Het
Rtn4	A	T	11: 29,686,437 (GRCm39)	N264I	probably damaging	Het
Slc45a2	A	G	15: 11,025,832 (GRCm39)	Y394C	probably benign	Het
Speer4f2	A	T	5: 17,579,447 (GRCm39)	N82I	probably damaging	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Strip1	T	C	3: 107,534,155 (GRCm39)	S160G	probably benign	Het
Tbx2	A	G	11: 85,724,318 (GRCm39)	K129R	probably benign	Het
Tfr2	T	C	5: 137,585,082 (GRCm39)		probably benign	Het
Thap12	T	C	7: 98,352,645 (GRCm39)	S17P	probably damaging	Het
Timm21	G	C	18: 84,967,387 (GRCm39)	L130V	probably damaging	Het
Tspear	T	C	10: 77,702,166 (GRCm39)	F200L	probably benign	Het
Tspyl5	T	A	15: 33,687,526 (GRCm39)	R140W	possibly damaging	Het
Ttn	T	C	2: 76,606,002 (GRCm39)	D18236G	probably damaging	Het
Upf2	G	A	2: 5,965,800 (GRCm39)	R140Q	unknown	Het
Vps4a	T	A	8: 107,763,276 (GRCm39)	I10N	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
R1221:Or8g22	UTSW	9	38,958,483 (GRCm39)	missense	probably damaging	1.00
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'- CTTGGCAGTGACCACCAAGAAGAA -3'
(R):5'- TGCTGGCTGCAATGGCATATGA -3'

Sequencing Primer
(F):5'- CCTTGTTCCTCAGACTGTAGATTAGG -3'
(R):5'- GCATATGATCGCTATGTTGCC -3'

Posted On

2014-03-17