Mutagenetix > Incidental Mutation

Incidental Mutation 'R4377:Or8g52'

325153

Institutional Source

Beutler Lab

Gene Symbol

Or8g52

Ensembl Gene

ENSMUSG00000095839

Gene Name

olfactory receptor family 8 subfamily G member 52

Synonyms

MOR171-28, Olfr965, GA_x6K02T2PVTD-33416730-33417668

MMRRC Submission

041676-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R4377 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39711353-39720614 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39719807 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 193 (F193L)

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: F193L

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000069696
Gene: ENSMUSG00000095839
AA Change: F193L

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: F193L

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214875

Predicted Effect

probably benign
Transcript: ENSMUST00000215164
AA Change: F193L

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (57/58)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck5	A	G	15: 76,594,335 (GRCm38)		probably benign	Het
Arhgap22	A	G	14: 33,369,510 (GRCm38)	M681V	probably damaging	Het
Armh4	T	A	14: 49,770,436 (GRCm38)	T527S	probably damaging	Het
Atp10d	T	C	5: 72,296,975 (GRCm38)	L189P	probably damaging	Het
BC034090	A	G	1: 155,232,450 (GRCm38)	C384R	probably benign	Het
Ccdc180	T	A	4: 45,941,877 (GRCm38)	L1380Q	probably damaging	Het
Cd209c	T	C	8: 3,954,635 (GRCm38)		noncoding transcript	Het
Cenpp	A	G	13: 49,494,431 (GRCm38)		probably benign	Het
Csf1	T	A	3: 107,756,739 (GRCm38)	T38S	probably damaging	Het
Csn1s2a	T	C	5: 87,775,821 (GRCm38)	V12A	probably benign	Het
Dapk1	A	G	13: 60,719,684 (GRCm38)	D235G	probably benign	Het
Espl1	A	G	15: 102,312,989 (GRCm38)	I944V	probably damaging	Het
Frmd3	T	A	4: 74,128,298 (GRCm38)		probably null	Het
Gart	G	A	16: 91,634,094 (GRCm38)	A360V	probably benign	Het
Gm7251	T	A	13: 49,805,200 (GRCm38)		noncoding transcript	Het
Gon4l	C	A	3: 88,907,387 (GRCm38)	P1888T	probably benign	Het
Hk1	C	A	10: 62,315,540 (GRCm38)	K10N	probably damaging	Het
Itgal	A	G	7: 127,328,281 (GRCm38)	Y981C	probably benign	Het
Kcp	C	T	6: 29,493,203 (GRCm38)	C107Y	probably damaging	Het
Kdm2a	C	T	19: 4,329,054 (GRCm38)	V138M	probably benign	Het
Kit	T	C	5: 75,640,499 (GRCm38)	I515T	probably benign	Het
Kmt2c	C	T	5: 25,315,326 (GRCm38)	V1929I	probably benign	Het
Krt33a	T	C	11: 100,012,427 (GRCm38)	E263G	possibly damaging	Het
Mark2	T	C	19: 7,290,689 (GRCm38)	I50V	possibly damaging	Het
Mug2	G	T	6: 122,071,007 (GRCm38)		probably null	Het
Mvk	A	G	5: 114,452,961 (GRCm38)		probably benign	Het
Myh6	T	A	14: 54,962,108 (GRCm38)	I249F	probably damaging	Het
Naa15	T	C	3: 51,448,365 (GRCm38)	I229T	possibly damaging	Het
Napb	A	C	2: 148,732,264 (GRCm38)		probably null	Het
Ncoa3	T	G	2: 166,054,497 (GRCm38)	L440R	possibly damaging	Het
Or52ae7	T	C	7: 103,470,071 (GRCm38)	S11P	probably damaging	Het
Osbpl8	T	A	10: 111,269,419 (GRCm38)	I245N	possibly damaging	Het
Pdia4	G	A	6: 47,798,392 (GRCm38)	R495W	probably damaging	Het
Pfn4	T	A	12: 4,770,182 (GRCm38)	D10E	probably damaging	Het
Plekha5	T	C	6: 140,579,465 (GRCm38)	Y376H	probably damaging	Het
Pole	T	A	5: 110,337,205 (GRCm38)	I395K	possibly damaging	Het
Prcc	A	G	3: 87,867,407 (GRCm38)	Y363H	probably damaging	Het
Ptprc	A	T	1: 138,067,925 (GRCm38)	M982K	probably benign	Het
Ptpro	T	A	6: 137,380,266 (GRCm38)	F252I	probably benign	Het
Pusl1	A	G	4: 155,890,580 (GRCm38)	V188A	probably benign	Het
Rad54l2	A	G	9: 106,693,222 (GRCm38)	S1300P	probably benign	Het
Rpl11	G	A	4: 136,051,143 (GRCm38)		probably benign	Het
Rtel1	T	A	2: 181,355,796 (GRCm38)	H1104Q	probably damaging	Het
Setbp1	T	C	18: 78,859,922 (GRCm38)	R177G	probably damaging	Het
Skint6	T	C	4: 113,236,518 (GRCm38)	T143A	possibly damaging	Het
Steep1	C	A	X: 36,824,159 (GRCm38)	C206F	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttc23l	CT	CTTGGATT	15: 10,537,562 (GRCm38)		probably benign	Het
Ttc23l	G	A	15: 10,537,566 (GRCm38)	S206L	probably benign	Het
Zfp583	A	G	7: 6,317,681 (GRCm38)	S111P	possibly damaging	Het
Zmiz1	T	C	14: 25,636,010 (GRCm38)	S140P	probably damaging	Het

Other mutations in Or8g52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01705:Or8g52	APN	9	39,719,581 (GRCm38)	missense	possibly damaging	0.95
IGL02365:Or8g52	APN	9	39,720,100 (GRCm38)	missense	probably damaging	0.98
IGL02365:Or8g52	APN	9	39,719,674 (GRCm38)	missense	possibly damaging	0.60
IGL03062:Or8g52	APN	9	39,720,035 (GRCm38)	missense	probably benign	0.26
IGL03330:Or8g52	APN	9	39,719,488 (GRCm38)	missense	probably benign	0.08
R0011:Or8g52	UTSW	9	39,719,627 (GRCm38)	missense	probably benign	0.26
R0462:Or8g52	UTSW	9	39,719,410 (GRCm38)	missense	probably benign	0.01
R1505:Or8g52	UTSW	9	39,719,478 (GRCm38)	missense	probably damaging	1.00
R1995:Or8g52	UTSW	9	39,719,413 (GRCm38)	missense	probably damaging	1.00
R2049:Or8g52	UTSW	9	39,720,115 (GRCm38)	missense	probably damaging	1.00
R2110:Or8g52	UTSW	9	39,719,722 (GRCm38)	missense	probably benign	0.30
R3817:Or8g52	UTSW	9	39,720,108 (GRCm38)	missense	possibly damaging	0.95
R4152:Or8g52	UTSW	9	39,720,000 (GRCm38)	missense	probably benign	0.10
R4153:Or8g52	UTSW	9	39,720,000 (GRCm38)	missense	probably benign	0.10
R4351:Or8g52	UTSW	9	39,719,569 (GRCm38)	missense	probably damaging	0.99
R4667:Or8g52	UTSW	9	39,719,709 (GRCm38)	missense	probably benign	0.09
R5526:Or8g52	UTSW	9	39,719,596 (GRCm38)	missense	possibly damaging	0.95
R5816:Or8g52	UTSW	9	39,719,230 (GRCm38)	start codon destroyed	probably null	1.00
R7113:Or8g52	UTSW	9	39,719,677 (GRCm38)	missense	probably benign
R7336:Or8g52	UTSW	9	39,719,610 (GRCm38)	missense	probably benign	0.28
R8153:Or8g52	UTSW	9	39,719,658 (GRCm38)	missense	possibly damaging	0.68
R8291:Or8g52	UTSW	9	39,719,545 (GRCm38)	missense	probably benign	0.00
R8779:Or8g52	UTSW	9	39,719,340 (GRCm38)	missense	probably damaging	0.99
R9617:Or8g52	UTSW	9	39,719,382 (GRCm38)	missense	possibly damaging	0.80
R9631:Or8g52	UTSW	9	39,719,865 (GRCm38)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- ATGTCACCATGTCTTACCAAGTC -3'
(R):5'- TCGGAGCTAACTGATGATGGC -3'

Sequencing Primer
(F):5'- ACCAAGTCTGTTTATGGATGATAGG -3'
(R):5'- TGGCTGAAAGTACATGAATCCC -3'

Posted On

2015-07-06