Mutagenetix > Incidental Mutation

Incidental Mutation 'R8486:Or52p1'

657741

Institutional Source

Beutler Lab

Gene Symbol

Or52p1

Ensembl Gene

ENSMUSG00000073924

Gene Name

olfactory receptor family 52 subfamily P member 1

Synonyms

MOR27-1, Olfr656, GA_x6K02T2PBJ9-7245486-7246451

MMRRC Submission

067929-MU

Accession Numbers

Essential gene?

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

Stock #

R8486 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104266864-104267853 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104267069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 69 (V69A)

Ref Sequence

ENSEMBL: ENSMUSP00000095774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098172] [ENSMUST00000215575]

AlphaFold

Q8VGX9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098172
AA Change: V69A

PolyPhen 2 Score 0.475 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095774
Gene: ENSMUSG00000073924
AA Change: V69A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	41	319	5.2e-105	PFAM
Pfam:7TM_GPCR_Srsx	42	316	1.1e-8	PFAM
Pfam:7tm_1	51	302	4.9e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215575
AA Change: V61A

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,225,092 (GRCm39)	S524G	probably benign	Het
Abca8b	A	T	11: 109,857,937 (GRCm39)	I546N	possibly damaging	Het
Abcd4	C	T	12: 84,650,752 (GRCm39)	R532H	probably damaging	Het
Acsf2	A	T	11: 94,460,786 (GRCm39)	D373E	probably damaging	Het
Acsm1	A	G	7: 119,259,880 (GRCm39)	T510A	probably damaging	Het
Adam21	C	T	12: 81,607,550 (GRCm39)	V71I	probably benign	Het
Adgra3	T	C	5: 50,147,621 (GRCm39)	D473G	probably damaging	Het
Agbl2	G	A	2: 90,631,499 (GRCm39)	V286I	possibly damaging	Het
Alkbh8	A	G	9: 3,344,642 (GRCm39)	E141G	probably null	Het
Arhgap21	T	C	2: 20,865,236 (GRCm39)	D952G	probably damaging	Het
Asb4	A	T	6: 5,390,653 (GRCm39)	K15N	possibly damaging	Het
Cert1	T	C	13: 96,770,690 (GRCm39)	V533A	probably damaging	Het
Clip1	G	T	5: 123,752,770 (GRCm39)		probably benign	Het
Clip4	T	C	17: 72,170,839 (GRCm39)		probably benign	Het
Cyp2b10	T	C	7: 25,614,306 (GRCm39)	V260A	probably benign	Het
Dnm1	C	T	2: 32,224,739 (GRCm39)	M430I	probably benign	Het
Dpp7	T	C	2: 25,242,561 (GRCm39)	D464G	probably damaging	Het
Dspp	A	G	5: 104,321,883 (GRCm39)		probably benign	Het
Ephb1	A	C	9: 101,841,164 (GRCm39)	D730E	probably benign	Het
Fancf	A	G	7: 51,511,632 (GRCm39)	V124A	probably benign	Het
Fgfr2	G	A	7: 129,765,745 (GRCm39)	P692S	possibly damaging	Het
Fkbp15	G	A	4: 62,230,521 (GRCm39)	R731*	probably null	Het
Fos	T	C	12: 85,522,805 (GRCm39)	F239S	probably benign	Het
Fuz	T	C	7: 44,548,092 (GRCm39)	Y107H	probably damaging	Het
Gm3159	A	C	14: 4,400,520 (GRCm38)	N193T	probably damaging	Het
Helz2	T	A	2: 180,871,124 (GRCm39)	D2771V	probably damaging	Het
Ighv1-18	T	A	12: 114,646,325 (GRCm39)	K92M	probably damaging	Het
Kcnh3	A	G	15: 99,136,091 (GRCm39)	Y696C	probably damaging	Het
Klf15	T	A	6: 90,444,160 (GRCm39)	V245D	probably damaging	Het
L1td1	C	T	4: 98,625,911 (GRCm39)	A702V	probably damaging	Het
Lamc2	A	G	1: 153,034,637 (GRCm39)	M122T	probably benign	Het
Lrp1b	A	G	2: 41,618,702 (GRCm39)	L124P	probably damaging	Het
Mcrs1	G	T	15: 99,146,349 (GRCm39)	Y85*	probably null	Het
Mgst1	A	T	6: 138,120,026 (GRCm39)	I29L	probably benign	Het
Miga1	C	T	3: 151,982,390 (GRCm39)	R562H	probably damaging	Het
Mybpc3	T	C	2: 90,959,117 (GRCm39)	W687R	probably damaging	Het
Myh11	G	T	16: 14,022,532 (GRCm39)	A1682D	possibly damaging	Het
Nes	T	C	3: 87,887,320 (GRCm39)	S1816P	probably damaging	Het
Or5c1	T	G	2: 37,222,662 (GRCm39)	V301G	probably damaging	Het
Pkhd1l1	T	G	15: 44,410,812 (GRCm39)	F2773C	probably damaging	Het
Pkp1	C	G	1: 135,846,714 (GRCm39)	E13Q	probably damaging	Het
Ppp2r2b	T	C	18: 43,031,869 (GRCm39)	D4G	probably benign	Het
Ppp6r3	G	A	19: 3,537,072 (GRCm39)	H455Y	probably benign	Het
R3hdm1	A	G	1: 128,106,657 (GRCm39)	R202G	probably benign	Het
Sgcz	T	G	8: 38,190,207 (GRCm39)	K106N	probably benign	Het
Slc13a4	T	C	6: 35,247,304 (GRCm39)	Y572C	probably damaging	Het
Syne2	C	T	12: 76,088,881 (GRCm39)	Q5080*	probably null	Het
Tpst2	C	T	5: 112,456,171 (GRCm39)	Q5*	probably null	Het
Ttn	T	A	2: 76,561,877 (GRCm39)	T28908S	possibly damaging	Het
Vmn1r120	C	T	7: 20,787,027 (GRCm39)	R228H	probably benign	Het
Vmn2r3	T	C	3: 64,186,370 (GRCm39)	N105S	probably damaging	Het
Zfp521	T	C	18: 13,979,829 (GRCm39)	T195A	probably damaging	Het
Zfp616	T	A	11: 73,974,909 (GRCm39)	S484T	probably benign	Het

Other mutations in Or52p1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01616:Or52p1	APN	7	104,266,928 (GRCm39)	missense	probably damaging	0.98
IGL01908:Or52p1	APN	7	104,266,906 (GRCm39)	missense	probably damaging	1.00
IGL02695:Or52p1	APN	7	104,267,678 (GRCm39)	missense	probably damaging	1.00
IGL03055:Or52p1	UTSW	7	104,267,413 (GRCm39)	missense	probably damaging	1.00
R0128:Or52p1	UTSW	7	104,267,788 (GRCm39)	missense	probably damaging	1.00
R0184:Or52p1	UTSW	7	104,267,447 (GRCm39)	missense	probably damaging	1.00
R4674:Or52p1	UTSW	7	104,267,631 (GRCm39)	nonsense	probably null
R4675:Or52p1	UTSW	7	104,267,631 (GRCm39)	nonsense	probably null
R4723:Or52p1	UTSW	7	104,267,696 (GRCm39)	missense	possibly damaging	0.56
R4979:Or52p1	UTSW	7	104,267,812 (GRCm39)	missense	probably null	0.03
R6273:Or52p1	UTSW	7	104,267,102 (GRCm39)	missense	probably damaging	1.00
R6359:Or52p1	UTSW	7	104,267,510 (GRCm39)	missense	probably damaging	1.00
R6582:Or52p1	UTSW	7	104,267,648 (GRCm39)	missense	probably damaging	1.00
R6750:Or52p1	UTSW	7	104,267,320 (GRCm39)	missense	probably damaging	0.99
R7426:Or52p1	UTSW	7	104,267,059 (GRCm39)	missense	probably damaging	1.00
R7786:Or52p1	UTSW	7	104,266,925 (GRCm39)	missense	probably benign	0.02
R8068:Or52p1	UTSW	7	104,267,460 (GRCm39)	nonsense	probably null
R8324:Or52p1	UTSW	7	104,267,321 (GRCm39)	missense	probably benign	0.00
R8828:Or52p1	UTSW	7	104,267,486 (GRCm39)	missense	probably damaging	1.00
R8933:Or52p1	UTSW	7	104,266,873 (GRCm39)	missense	probably benign	0.05
R8971:Or52p1	UTSW	7	104,267,467 (GRCm39)	missense	probably damaging	1.00
R9329:Or52p1	UTSW	7	104,267,705 (GRCm39)	missense	probably damaging	1.00
X0065:Or52p1	UTSW	7	104,266,965 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGGGATTTTCTGACCAGAGAC -3'
(R):5'- ACAGCACTGTGGACTCCATC -3'

Sequencing Primer
(F):5'- GGATTTTCTGACCAGAGACTATGTCC -3'
(R):5'- CTGTGGACTCCATCATGCAAAAGG -3'

Posted On

2021-01-18