Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03055:Or52p1'

453384

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

Accession Numbers

Essential gene?

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

Stock #

IGL03055 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

104266864-104267853 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104267413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 176 (I176F)

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: I184F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095774
Gene: ENSMUSG00000073924
AA Change: I184F

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

noncoding transcript
Transcript: ENSMUST00000210687
AA Change: I176F

Predicted Effect

probably damaging
Transcript: ENSMUST00000215575
AA Change: I176F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

98% (58/59)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900041M22Rik	T	A	11: 117,503,072 (GRCm39)		noncoding transcript	Het
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
A430005L14Rik	T	A	4: 154,045,092 (GRCm39)	S40R	probably benign	Het
Aire	A	G	10: 77,878,903 (GRCm39)	L48P	probably damaging	Het
Alkbh8	T	C	9: 3,345,882 (GRCm39)		probably benign	Het
Aqp7	A	G	4: 41,045,326 (GRCm39)	M18T	probably benign	Het
Cchcr1	T	A	17: 35,837,516 (GRCm39)	M406K	probably benign	Het
Cdhr1	A	T	14: 36,817,054 (GRCm39)	D102E	probably benign	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Clec16a	T	A	16: 10,559,645 (GRCm39)	S973T	probably damaging	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Csmd1	A	G	8: 16,145,515 (GRCm39)	Y1471H	probably damaging	Het
Dnah12	A	G	14: 26,594,697 (GRCm39)	Y3489C	probably damaging	Het
Ect2	T	C	3: 27,191,211 (GRCm39)	E464G	probably damaging	Het
Enpp2	C	A	15: 54,729,481 (GRCm39)		probably null	Het
Erich2	G	T	2: 70,339,529 (GRCm39)	C28F	possibly damaging	Het
Fam135b	A	T	15: 71,493,883 (GRCm39)	H15Q	possibly damaging	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Gfral	T	A	9: 76,115,831 (GRCm39)	T48S	probably benign	Het
Itga10	A	G	3: 96,557,836 (GRCm39)	E293G	probably damaging	Het
Lrp2	A	T	2: 69,288,792 (GRCm39)	N3691K	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nefm	T	C	14: 68,360,358 (GRCm39)	T371A	probably damaging	Het
Nkain3	C	A	4: 20,778,308 (GRCm39)	C3F	probably benign	Het
Nol4l	G	C	2: 153,278,190 (GRCm39)		silent	Het
Nprl3	C	A	11: 32,198,230 (GRCm39)		probably benign	Het
Pate2	T	C	9: 35,523,069 (GRCm39)		probably benign	Het
Pde4d	A	G	13: 110,071,879 (GRCm39)	K128R	probably damaging	Het
Ptprt	A	G	2: 161,375,533 (GRCm39)	L1329P	probably damaging	Het
Rapgef3	T	C	15: 97,647,370 (GRCm39)		probably benign	Het
Rassf5	T	C	1: 131,172,732 (GRCm39)	I46V	probably benign	Het
Rin1	C	T	19: 5,103,187 (GRCm39)	T481I	probably benign	Het
Samd4b	A	G	7: 28,104,971 (GRCm39)	L524P	possibly damaging	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Srebf1	T	C	11: 60,097,902 (GRCm39)		silent	Het
Ssh2	C	T	11: 77,299,021 (GRCm39)	Q123*	probably null	Het
St18	G	T	1: 6,872,959 (GRCm39)	L231F	probably damaging	Het
Stk11	A	C	10: 79,963,920 (GRCm39)	D96A	probably damaging	Het
Svil	A	G	18: 5,108,615 (GRCm39)	T1918A	probably damaging	Het
Thrap3	G	A	4: 126,059,335 (GRCm39)		probably null	Het
Tlr1	C	A	5: 65,083,939 (GRCm39)	V213F	probably benign	Het
Trappc10	C	T	10: 78,050,520 (GRCm39)	R307Q	probably damaging	Het
Ugt1a1	AT	A	1: 88,140,093 (GRCm39)		probably null	Het
Wnt6	G	A	1: 74,822,013 (GRCm39)	R198H	probably damaging	Het
Yipf2	A	T	9: 21,501,019 (GRCm39)	V98E	probably benign	Het
Zc3h15	A	G	2: 83,491,515 (GRCm39)	T248A	possibly damaging	Het
Zc3hav1	C	T	6: 38,293,251 (GRCm39)		probably null	Het
Zfp697	T	G	3: 98,332,810 (GRCm39)	C79G	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
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
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'- TGATGGAGTCCACAGTGCTG -3'
(R):5'- CCACAGGTACCTAAGGCTTTGG -3'

Sequencing Primer
(F):5'- CACAGTGCTGTTGGCCATG -3'
(R):5'- TACCTAAGGCTTTGGACCGG -3'

Posted On

2017-02-03