Mutagenetix > Incidental Mutation

Incidental Mutation 'R0086:Or8g22'

208401

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

038373-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R0086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38957910-38958845 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38958191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 175 (T175A)

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 benign
Transcript: ENSMUST00000178303
AA Change: T175A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000137209
Gene: ENSMUSG00000095194
AA Change: T175A

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: Y219C

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.0%
10x: 94.6%
20x: 86.6%

Validation Efficiency

96% (91/95)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	A	15: 81,946,802 (GRCm39)	V233D	probably benign	Het
Abcg8	T	C	17: 85,000,199 (GRCm39)	V252A	probably damaging	Het
Adam39	C	T	8: 41,279,397 (GRCm39)	T596I	possibly damaging	Het
Agap2	C	A	10: 126,923,751 (GRCm39)		probably null	Het
Ap4b1	T	G	3: 103,722,176 (GRCm39)	V50G	probably damaging	Het
Atp13a1	T	A	8: 70,250,424 (GRCm39)	I381N	possibly damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Birc6	T	C	17: 74,900,161 (GRCm39)	V1113A	possibly damaging	Het
C1galt1	T	A	6: 7,867,051 (GRCm39)		probably benign	Het
Capza2	A	G	6: 17,660,773 (GRCm39)	K158E	probably damaging	Het
Cenpe	C	T	3: 134,970,185 (GRCm39)		probably benign	Het
Cercam	T	C	2: 29,761,076 (GRCm39)	L42P	probably damaging	Het
Cfap54	T	C	10: 92,864,456 (GRCm39)	E807G	possibly damaging	Het
Cog6	A	G	3: 52,900,991 (GRCm39)	V157A	probably damaging	Het
Cts6	A	T	13: 61,344,271 (GRCm39)		probably benign	Het
Cyp2c39	A	T	19: 39,499,357 (GRCm39)	I15F	unknown	Het
Dock7	A	T	4: 98,833,381 (GRCm39)	V1970D	probably damaging	Het
Exph5	A	G	9: 53,249,230 (GRCm39)	D73G	possibly damaging	Het
Gjc2	A	T	11: 59,067,672 (GRCm39)	M270K	probably benign	Het
Gns	G	A	10: 121,227,378 (GRCm39)	D463N	probably damaging	Het
Hoxd8	G	T	2: 74,536,276 (GRCm39)	G129W	probably damaging	Het
Ina	A	G	19: 47,012,030 (GRCm39)	T483A	possibly damaging	Het
Lmod3	T	A	6: 97,224,306 (GRCm39)	Q505L	probably damaging	Het
Map3k13	A	G	16: 21,732,975 (GRCm39)	N526D	probably damaging	Het
Map3k2	A	T	18: 32,351,521 (GRCm39)	I435F	probably damaging	Het
Mfsd6l	A	G	11: 68,447,391 (GRCm39)	T81A	probably benign	Het
Micall1	T	C	15: 79,009,689 (GRCm39)		probably benign	Het
Mkrn2	G	T	6: 115,590,296 (GRCm39)	M217I	possibly damaging	Het
Mtrex	G	T	13: 113,063,862 (GRCm39)	F10L	probably benign	Het
Myh11	C	A	16: 14,041,883 (GRCm39)	Q720H	probably damaging	Het
Ncapg	A	G	5: 45,834,086 (GRCm39)		probably null	Het
Nlrp9a	G	A	7: 26,257,972 (GRCm39)	C530Y	probably damaging	Het
Numb	T	C	12: 83,842,704 (GRCm39)	T442A	probably damaging	Het
Oip5	C	T	2: 119,448,410 (GRCm39)		probably benign	Het
Or1j14	A	T	2: 36,417,462 (GRCm39)	I13F	possibly damaging	Het
Or4c119	C	T	2: 88,986,820 (GRCm39)	R233H	probably benign	Het
Or51k1	A	G	7: 103,661,261 (GRCm39)	I216T	probably benign	Het
Pcnx1	T	C	12: 82,038,832 (GRCm39)		probably benign	Het
Pkhd1l1	T	A	15: 44,419,404 (GRCm39)	N2956K	possibly damaging	Het
Plcl1	T	A	1: 55,754,742 (GRCm39)	W1030R	probably damaging	Het
Polr2i	G	A	7: 29,932,511 (GRCm39)	V73M	probably damaging	Het
Prr14l	T	A	5: 32,988,903 (GRCm39)		probably benign	Het
Pxdn	G	T	12: 30,052,418 (GRCm39)	R865L	possibly damaging	Het
Scnn1a	T	C	6: 125,319,550 (GRCm39)		probably benign	Het
Shkbp1	G	T	7: 27,051,451 (GRCm39)	H203N	probably benign	Het
Slc22a14	C	T	9: 119,051,804 (GRCm39)		probably benign	Het
Snap29	C	A	16: 17,246,100 (GRCm39)	T240K	probably damaging	Het
Sp2	C	A	11: 96,848,253 (GRCm39)	G457C	probably damaging	Het
Ssr2	C	T	3: 88,484,187 (GRCm39)		probably benign	Het
Synpo2	A	T	3: 122,910,753 (GRCm39)	C297*	probably null	Het
Tpm3	T	A	3: 89,997,399 (GRCm39)		probably benign	Het
Trmt6	CTG	C	2: 132,650,937 (GRCm39)		probably benign	Het
Trp63	T	C	16: 25,689,837 (GRCm39)	Y431H	probably damaging	Het
Tuba3b	T	A	6: 145,566,886 (GRCm39)	C376S	probably damaging	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Ulk1	G	A	5: 110,935,573 (GRCm39)		probably benign	Het
Usp24	T	C	4: 106,249,557 (GRCm39)	S1425P	probably damaging	Het
Xdh	T	C	17: 74,191,433 (GRCm39)	I1335V	probably benign	Het
Zmynd15	T	C	11: 70,355,058 (GRCm39)	Y352H	probably 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
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
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'- CTTGGCAGTGACCACCAAGAAGAA -3'
(R):5'- TGCTGGCTGCAATGGCATATGA -3'

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

Posted On

2014-06-25