Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03062:Or8g52'

409480

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or8g52

Ensembl Gene

ENSMUSG00000095839

Gene Name

olfactory receptor family 8 subfamily G member 52

Synonyms

MOR171-28, Olfr965, GA_x6K02T2PVTD-33416730-33417668

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

IGL03062

Quality Score

Status

Chromosome

Chromosomal Location

39630525-39631463 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39631331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 269 (D269E)

Ref Sequence

ENSEMBL: ENSMUSP00000150401 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069342] [ENSMUST00000213335] [ENSMUST00000215164]

AlphaFold

Q7TRA7

Predicted Effect

probably benign
Transcript: ENSMUST00000069342
AA Change: D269E

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000069696
Gene: ENSMUSG00000095839
AA Change: D269E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.4e-47	PFAM
Pfam:7tm_1	41	290	4.2e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213335
AA Change: D269E

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214875

Predicted Effect

probably benign
Transcript: ENSMUST00000215164
AA Change: D269E

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

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, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 124,681,054 (GRCm39)	R714Q	possibly damaging	Het
Abcb5	T	A	12: 118,899,822 (GRCm39)	I282L	probably benign	Het
Aox1	A	T	1: 58,117,624 (GRCm39)	E835D	probably benign	Het
Arhgap17	C	T	7: 122,921,097 (GRCm39)		probably null	Het
Bltp1	T	C	3: 37,092,666 (GRCm39)		probably benign	Het
Calcr	C	T	6: 3,693,718 (GRCm39)	V359I	probably benign	Het
Chd9	T	A	8: 91,741,895 (GRCm39)		probably benign	Het
Col28a1	T	C	6: 8,017,029 (GRCm39)		probably benign	Het
Dnajc11	A	G	4: 152,055,318 (GRCm39)	E171G	possibly damaging	Het
Efhd1	T	C	1: 87,192,406 (GRCm39)	F79L	possibly damaging	Het
Fam83a	A	T	15: 57,856,473 (GRCm39)		probably null	Het
Fam98a	A	G	17: 75,847,100 (GRCm39)		probably benign	Het
Ficd	A	G	5: 113,876,314 (GRCm39)	Y163C	probably damaging	Het
Filip1l	T	C	16: 57,327,167 (GRCm39)	S66P	probably damaging	Het
Fmo5	A	G	3: 97,542,909 (GRCm39)	Y73C	probably damaging	Het
Galnt12	C	A	4: 47,122,566 (GRCm39)	R574S	possibly damaging	Het
Klc3	C	A	7: 19,128,987 (GRCm39)	G461W	probably damaging	Het
Lmo7	A	T	14: 102,149,515 (GRCm39)	T973S	possibly damaging	Het
Loxl1	C	A	9: 58,219,193 (GRCm39)	G326V	possibly damaging	Het
Lrrc24	A	G	15: 76,602,504 (GRCm39)	V127A	probably benign	Het
Lyrm1	T	C	7: 119,515,354 (GRCm39)		probably benign	Het
Med28	G	A	5: 45,679,811 (GRCm39)	V65I	probably damaging	Het
Mgat4c	T	C	10: 102,224,322 (GRCm39)	Y179H	probably damaging	Het
Micall1	A	C	15: 78,998,881 (GRCm39)	N58T	probably damaging	Het
Mtcl3	T	A	10: 29,074,945 (GRCm39)	F911Y	probably damaging	Het
Ncoa4	T	A	14: 31,895,377 (GRCm39)	M72K	possibly damaging	Het
Nutm1	T	C	2: 112,079,278 (GRCm39)	Q879R	probably benign	Het
Or4d6	C	T	19: 12,086,512 (GRCm39)	V133I	probably benign	Het
Or8b12i	T	A	9: 20,082,463 (GRCm39)	I135F	probably damaging	Het
Phf11b	T	C	14: 59,562,373 (GRCm39)	I177M	probably damaging	Het
Pin1rt1	T	G	2: 104,545,052 (GRCm39)	I27L	probably benign	Het
Plxna2	T	C	1: 194,444,858 (GRCm39)	V750A	possibly damaging	Het
Pou5f1	A	T	17: 35,820,936 (GRCm39)	N126I	possibly damaging	Het
Ptprn	A	T	1: 75,224,517 (GRCm39)	H946Q	possibly damaging	Het
Rnf43	G	T	11: 87,623,130 (GRCm39)	G744*	probably null	Het
Rsbn1	C	A	3: 103,860,945 (GRCm39)		probably benign	Het
Sars2	T	A	7: 28,446,206 (GRCm39)	I145N	possibly damaging	Het
Sh3tc2	A	T	18: 62,144,951 (GRCm39)	E1135V	probably damaging	Het
Shroom1	A	G	11: 53,354,206 (GRCm39)	D42G	probably benign	Het
Sidt2	A	G	9: 45,853,981 (GRCm39)		probably null	Het
Slc39a8	T	C	3: 135,592,558 (GRCm39)		probably benign	Het
Slc9c1	T	C	16: 45,420,121 (GRCm39)	S1059P	probably benign	Het
Socs6	A	T	18: 88,887,970 (GRCm39)	M315K	probably benign	Het
Speer2	T	C	16: 69,654,865 (GRCm39)	E200G	probably damaging	Het
Sult2a5	T	A	7: 13,358,107 (GRCm39)		probably null	Het
Tmbim1	A	T	1: 74,330,858 (GRCm39)	I168N	possibly damaging	Het
Trim38	T	C	13: 23,966,946 (GRCm39)	V131A	probably damaging	Het
Ube2o	A	G	11: 116,432,468 (GRCm39)	S833P	probably damaging	Het
Uggt2	T	C	14: 119,312,758 (GRCm39)	I350M	probably damaging	Het
Unc80	A	G	1: 66,548,648 (GRCm39)	D640G	probably damaging	Het
Vmn2r13	A	G	5: 109,304,148 (GRCm39)	F761S	probably damaging	Het
Vmn2r54	C	T	7: 12,366,355 (GRCm39)	C193Y	probably damaging	Het

Other mutations in Or8g52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01705:Or8g52	APN	9	39,630,877 (GRCm39)	missense	possibly damaging	0.95
IGL02365:Or8g52	APN	9	39,631,396 (GRCm39)	missense	probably damaging	0.98
IGL02365:Or8g52	APN	9	39,630,970 (GRCm39)	missense	possibly damaging	0.60
IGL03330:Or8g52	APN	9	39,630,784 (GRCm39)	missense	probably benign	0.08
R0011:Or8g52	UTSW	9	39,630,923 (GRCm39)	missense	probably benign	0.26
R0462:Or8g52	UTSW	9	39,630,706 (GRCm39)	missense	probably benign	0.01
R1505:Or8g52	UTSW	9	39,630,774 (GRCm39)	missense	probably damaging	1.00
R1995:Or8g52	UTSW	9	39,630,709 (GRCm39)	missense	probably damaging	1.00
R2049:Or8g52	UTSW	9	39,631,411 (GRCm39)	missense	probably damaging	1.00
R2110:Or8g52	UTSW	9	39,631,018 (GRCm39)	missense	probably benign	0.30
R3817:Or8g52	UTSW	9	39,631,404 (GRCm39)	missense	possibly damaging	0.95
R4152:Or8g52	UTSW	9	39,631,296 (GRCm39)	missense	probably benign	0.10
R4153:Or8g52	UTSW	9	39,631,296 (GRCm39)	missense	probably benign	0.10
R4351:Or8g52	UTSW	9	39,630,865 (GRCm39)	missense	probably damaging	0.99
R4377:Or8g52	UTSW	9	39,631,103 (GRCm39)	missense	probably benign	0.04
R4667:Or8g52	UTSW	9	39,631,005 (GRCm39)	missense	probably benign	0.09
R5526:Or8g52	UTSW	9	39,630,892 (GRCm39)	missense	possibly damaging	0.95
R5816:Or8g52	UTSW	9	39,630,526 (GRCm39)	start codon destroyed	probably null	1.00
R7113:Or8g52	UTSW	9	39,630,973 (GRCm39)	missense	probably benign
R7336:Or8g52	UTSW	9	39,630,906 (GRCm39)	missense	probably benign	0.28
R8153:Or8g52	UTSW	9	39,630,954 (GRCm39)	missense	possibly damaging	0.68
R8291:Or8g52	UTSW	9	39,630,841 (GRCm39)	missense	probably benign	0.00
R8779:Or8g52	UTSW	9	39,630,636 (GRCm39)	missense	probably damaging	0.99
R9617:Or8g52	UTSW	9	39,630,678 (GRCm39)	missense	possibly damaging	0.80
R9631:Or8g52	UTSW	9	39,631,161 (GRCm39)	missense	possibly damaging	0.78

Posted On

2016-08-02