Mutagenetix > Incidental Mutation

Incidental Mutation 'R6750:Or52p1'

530699

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

044867-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R6750 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104266864-104267853 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104267320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 145 (R145C)

Ref Sequence

ENSEMBL: ENSMUSP00000149625 (fasta)

Gene Model

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

AlphaFold

Q8VGX9

Predicted Effect

probably damaging
Transcript: ENSMUST00000098172
AA Change: R153C

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095774
Gene: ENSMUSG00000073924
AA Change: R153C

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 damaging
Transcript: ENSMUST00000215575
AA Change: R145C

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.7%

Validation Efficiency

100% (75/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	A	T	2: 120,973,130 (GRCm39)	L62F	probably damaging	Het
Akap13	C	T	7: 75,389,206 (GRCm39)	P2375S	probably benign	Het
Apob	T	A	12: 8,047,853 (GRCm39)	L931Q	probably damaging	Het
Arcn1	A	G	9: 44,661,691 (GRCm39)	V391A	possibly damaging	Het
Ccdc162	A	T	10: 41,437,222 (GRCm39)	I1729N	possibly damaging	Het
Cd24a	T	C	10: 43,458,721 (GRCm39)	L86P	unknown	Het
Cdcp3	T	A	7: 130,889,974 (GRCm39)		probably benign	Het
Churc1	C	A	12: 76,822,405 (GRCm39)	H71Q	probably damaging	Het
Clcn3	A	G	8: 61,367,809 (GRCm39)	L780P	possibly damaging	Het
Cldn17	C	T	16: 88,303,195 (GRCm39)	G178E	possibly damaging	Het
Cmah	A	G	13: 24,648,235 (GRCm39)	Y345C	probably damaging	Het
Cntnap5b	C	T	1: 100,202,224 (GRCm39)	S357L	probably damaging	Het
Col6a6	A	G	9: 105,660,879 (GRCm39)	I410T	probably damaging	Het
Crmp1	T	C	5: 37,422,666 (GRCm39)		probably null	Het
Csmd2	A	C	4: 128,091,018 (GRCm39)	N186H	possibly damaging	Het
Cyp1a1	A	T	9: 57,607,539 (GRCm39)	M56L	probably benign	Het
D2hgdh	G	C	1: 93,754,129 (GRCm39)	R56P	probably benign	Het
Dapk2	A	G	9: 66,128,034 (GRCm39)	E104G	probably damaging	Het
Dld	T	C	12: 31,382,213 (GRCm39)	N498S	probably benign	Het
Dyrk4	G	T	6: 126,875,918 (GRCm39)	Q106K	probably benign	Het
Eif2b4	T	C	5: 31,347,304 (GRCm39)	I333V	probably damaging	Het
F5	A	G	1: 164,021,076 (GRCm39)	T1184A	possibly damaging	Het
Fbxl6	C	T	15: 76,422,612 (GRCm39)	G102D	probably damaging	Het
Foxa1	C	T	12: 57,589,396 (GRCm39)	G275R	probably benign	Het
Fryl	A	G	5: 73,179,575 (GRCm39)	I2944T	probably damaging	Het
Gna15	T	C	10: 81,350,117 (GRCm39)	D95G	probably benign	Het
Greb1	T	A	12: 16,738,584 (GRCm39)	M1460L	probably benign	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Herc2	T	C	7: 55,747,195 (GRCm39)	I444T	probably damaging	Het
Ifngr1	T	A	10: 19,485,099 (GRCm39)	M366K	probably benign	Het
Krt27	C	T	11: 99,239,806 (GRCm39)	E253K	probably damaging	Het
Mical2	C	T	7: 111,981,046 (GRCm39)	T406I	probably damaging	Het
Mocs2	T	G	13: 114,962,784 (GRCm39)	D156E	probably damaging	Het
Mprip	A	T	11: 59,586,957 (GRCm39)	K43N	probably damaging	Het
Myo5b	A	T	18: 74,750,106 (GRCm39)	T190S	possibly damaging	Het
Naa25	C	T	5: 121,546,372 (GRCm39)	T86M	probably damaging	Het
Ncam1	T	C	9: 49,478,639 (GRCm39)	D163G	probably damaging	Het
Nlrp4f	A	T	13: 65,329,468 (GRCm39)	Y908*	probably null	Het
Nlrp9b	T	A	7: 19,757,159 (GRCm39)	L132*	probably null	Het
Nrg1	A	C	8: 32,308,124 (GRCm39)	S679A	probably damaging	Het
Or1j1	C	A	2: 36,702,954 (GRCm39)	R50M	possibly damaging	Het
Paqr9	A	T	9: 95,443,050 (GRCm39)	T347S	probably damaging	Het
Pcdhb21	T	C	18: 37,647,501 (GRCm39)	L210P	probably damaging	Het
Pdzd7	T	G	19: 45,016,187 (GRCm39)	D978A	probably benign	Het
Phf8-ps	A	T	17: 33,285,372 (GRCm39)	S477T	possibly damaging	Het
Pkd1l1	A	T	11: 8,923,217 (GRCm39)	S17T	unknown	Het
Plcz1	T	C	6: 139,974,164 (GRCm39)	K93E	possibly damaging	Het
Pom121l2	G	C	13: 22,166,107 (GRCm39)	R126P	probably damaging	Het
Prkg1	C	T	19: 31,741,961 (GRCm39)	E88K	probably benign	Het
Psme4	A	T	11: 30,803,203 (GRCm39)	D15V	probably damaging	Het
Ptprf	A	G	4: 118,088,928 (GRCm39)	V625A	probably benign	Het
Rab27a	G	A	9: 72,992,290 (GRCm39)	S106N	probably damaging	Het
Rasa4	A	G	5: 136,129,802 (GRCm39)	T261A	probably benign	Het
Sardh	T	C	2: 27,118,269 (GRCm39)	D487G	probably benign	Het
Sec16a	A	G	2: 26,330,030 (GRCm39)	Y662H	probably benign	Het
Sema3d	T	A	5: 12,635,067 (GRCm39)	L711*	probably null	Het
Septin14	T	A	5: 129,773,181 (GRCm39)	Y152F	probably damaging	Het
Smc5	A	G	19: 23,220,004 (GRCm39)	L411P	probably damaging	Het
Spata31e5	C	A	1: 28,816,495 (GRCm39)	E512D	probably damaging	Het
Spg7	T	A	8: 123,800,650 (GRCm39)	V39E	probably damaging	Het
Tas2r117	A	G	6: 132,779,817 (GRCm39)		probably benign	Het
Tle1	A	T	4: 72,040,687 (GRCm39)	I631N	probably damaging	Het
Tmed3	T	A	9: 89,581,843 (GRCm39)	S207C	probably damaging	Het
Tmem59l	G	A	8: 70,939,022 (GRCm39)	P51S	probably benign	Het
Trpc3	A	G	3: 36,678,542 (GRCm39)	Y848H	probably damaging	Het
Tsen2	T	C	6: 115,526,881 (GRCm39)	F66S	probably damaging	Het
Ttll5	T	A	12: 86,003,384 (GRCm39)	S216R	probably damaging	Het
Usp22	A	T	11: 61,048,042 (GRCm39)	V426E	probably damaging	Het
Vmn2r76	T	C	7: 85,875,114 (GRCm39)	N621S	probably damaging	Het
Wdr75	A	G	1: 45,856,539 (GRCm39)	T521A	probably damaging	Het
Wrnip1	T	A	13: 32,986,739 (GRCm39)	D173E	probably damaging	Het
Zfp317	G	A	9: 19,559,100 (GRCm39)	G438D	probably damaging	Het
Zscan10	T	A	17: 23,826,164 (GRCm39)	S109T	possibly damaging	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
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
R8486:Or52p1	UTSW	7	104,267,069 (GRCm39)	missense	possibly damaging	0.47
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'- CTCAACCATTGATTTGGCTGCC -3'
(R):5'- GCCCATACACACGATTAGGTC -3'

Sequencing Primer
(F):5'- TTCTCCACAGTACCAAAGCTACTGG -3'
(R):5'- CCATACACACGATTAGGTCTGGTG -3'

Posted On

2018-08-01