Mutagenetix > Incidental Mutation

Incidental Mutation 'R4661:Or5p52'

352854

Institutional Source

Beutler Lab

Gene Symbol

Or5p52

Ensembl Gene

ENSMUSG00000073893

Gene Name

olfactory receptor family 5 subfamily P member 52

Synonyms

Olfr472, GA_x6K02T2PBJ9-10231953-10232885, MOR204-5

MMRRC Submission

041600-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R4661 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107501926-107502858 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107502188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 88 (H88L)

Ref Sequence

ENSEMBL: ENSMUSP00000150404 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000209670] [ENSMUST00000210420] [ENSMUST00000216937]

AlphaFold

Q8VG43

Predicted Effect

probably benign
Transcript: ENSMUST00000084760
AA Change: H88L

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000081815
Gene: ENSMUSG00000063120
AA Change: H88L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	5.6e-49	PFAM
Pfam:7tm_1	41	290	8.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209670
AA Change: H88L

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000210420
AA Change: H88L

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210856
AA Change: H88L

Predicted Effect

probably benign
Transcript: ENSMUST00000216937
AA Change: H88L

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	C	9: 44,198,627 (GRCm39)	N42D	probably damaging	Het
Adamdec1	G	A	14: 68,807,562 (GRCm39)	T366I	probably damaging	Het
Adamts7	C	A	9: 90,075,383 (GRCm39)	H1038Q	probably benign	Het
Aff3	T	C	1: 38,666,209 (GRCm39)	D5G	possibly damaging	Het
Amhr2	A	T	15: 102,362,688 (GRCm39)	D485V	probably damaging	Het
Arhgap35	A	T	7: 16,298,663 (GRCm39)	F134Y	probably damaging	Het
Asxl3	A	G	18: 22,649,534 (GRCm39)	T508A	probably benign	Het
Atp10a	TGGCGGCGGC	TGGCGGC	7: 58,308,248 (GRCm39)		probably benign	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Atp9a	A	G	2: 168,479,592 (GRCm39)	F928L	possibly damaging	Het
BC034090	A	T	1: 155,108,221 (GRCm39)	D13E	probably damaging	Het
Bco1	A	G	8: 117,855,980 (GRCm39)	E425G	probably benign	Het
Brsk1	T	C	7: 4,710,298 (GRCm39)	S436P	possibly damaging	Het
C1s1	T	C	6: 124,513,449 (GRCm39)	I193V	probably benign	Het
Calb2	A	G	8: 110,894,709 (GRCm39)	F21L	probably benign	Het
Catsperz	T	G	19: 6,902,171 (GRCm39)	T108P	probably benign	Het
Cep57l1	T	A	10: 41,595,767 (GRCm39)	D329V	possibly damaging	Het
Cfdp1	A	G	8: 112,557,577 (GRCm39)	F188S	probably benign	Het
Chrna2	G	A	14: 66,386,292 (GRCm39)	G146D	probably damaging	Het
Col6a1	A	C	10: 76,550,506 (GRCm39)	F520V	unknown	Het
Cyb5d2	C	A	11: 72,669,771 (GRCm39)	V43L	probably damaging	Het
Cyp2c40	T	C	19: 39,775,290 (GRCm39)	T321A	probably benign	Het
Dnajc16	A	C	4: 141,490,859 (GRCm39)	Y764D	probably damaging	Het
Dsg1a	G	A	18: 20,473,590 (GRCm39)	V888M	probably damaging	Het
F5	A	C	1: 164,012,489 (GRCm39)	T468P	probably damaging	Het
Faap24	A	G	7: 35,094,509 (GRCm39)	M97T	probably benign	Het
Fam227b	A	T	2: 125,849,230 (GRCm39)	I334N	probably damaging	Het
Frem2	G	T	3: 53,562,864 (GRCm39)	P548T	probably damaging	Het
Gfm1	A	G	3: 67,340,731 (GRCm39)	E94G	probably damaging	Het
Gm17606	A	T	14: 54,885,696 (GRCm39)		probably benign	Het
Gnb2	A	T	5: 137,528,515 (GRCm39)	M1K	probably null	Het
Gys1	G	A	7: 45,104,258 (GRCm39)	A544T	probably damaging	Het
Hdac5	T	C	11: 102,096,675 (GRCm39)	Y230C	probably damaging	Het
Hunk	A	T	16: 90,244,196 (GRCm39)		probably null	Het
Ifnl2	A	G	7: 28,209,635 (GRCm39)	F51L	probably damaging	Het
Itpr1	T	C	6: 108,387,892 (GRCm39)		probably null	Het
Kcnj1	A	G	9: 32,307,918 (GRCm39)	Y114C	probably benign	Het
Kdm4b	T	A	17: 56,706,459 (GRCm39)	S322T	probably damaging	Het
Kif27	T	C	13: 58,471,730 (GRCm39)	E786G	probably damaging	Het
Kif6	T	C	17: 50,060,909 (GRCm39)	V414A	probably benign	Het
L1td1	A	G	4: 98,621,861 (GRCm39)	K141R	possibly damaging	Het
Loxhd1	A	G	18: 77,490,581 (GRCm39)	I1394V	possibly damaging	Het
Lrfn5	A	T	12: 61,886,433 (GRCm39)	M74L	probably damaging	Het
Lrp6	C	T	6: 134,488,230 (GRCm39)	D289N	probably benign	Het
Mroh7	A	G	4: 106,548,710 (GRCm39)		probably null	Het
Muc4	A	C	16: 32,589,651 (GRCm39)	E2885A	possibly damaging	Het
Myo18b	G	T	5: 113,023,041 (GRCm39)		probably benign	Het
Ncln	G	A	10: 81,328,902 (GRCm39)	A172V	probably damaging	Het
Nek9	G	A	12: 85,367,666 (GRCm39)	T335M	possibly damaging	Het
Notch2	A	G	3: 98,042,829 (GRCm39)	Y1398C	probably damaging	Het
Or10g6	A	T	9: 39,933,823 (GRCm39)	I45F	probably damaging	Het
Or2d4	T	A	7: 106,544,074 (GRCm39)	I45F	probably damaging	Het
Pax2	G	A	19: 44,749,376 (GRCm39)	V40M	probably damaging	Het
Pde6c	A	G	19: 38,157,887 (GRCm39)	Y637C	probably damaging	Het
Plppr5	A	G	3: 117,414,618 (GRCm39)	I80V	probably damaging	Het
Pold1	G	T	7: 44,182,233 (GRCm39)	P1100T	probably damaging	Het
Prune2	T	C	19: 16,977,387 (GRCm39)	Y41H	probably damaging	Het
Rgl2	C	T	17: 34,152,200 (GRCm39)	A329V	possibly damaging	Het
Rilp	T	A	11: 75,402,250 (GRCm39)	Y250N	probably damaging	Het
Rilpl1	A	G	5: 124,652,751 (GRCm39)	V19A	probably benign	Het
Rtp3	T	C	9: 110,815,519 (GRCm39)		probably null	Het
Rufy4	A	G	1: 74,172,266 (GRCm39)	K246E	probably damaging	Het
Saraf	C	A	8: 34,635,616 (GRCm39)	A306E	probably damaging	Het
Slc26a8	A	T	17: 28,857,658 (GRCm39)	N828K	probably benign	Het
Src	C	T	2: 157,311,852 (GRCm39)	P527S	probably damaging	Het
Susd3	C	T	13: 49,384,778 (GRCm39)		probably null	Het
Syngap1	T	C	17: 27,185,880 (GRCm39)	L1270P	probably damaging	Het
Taf1c	G	A	8: 120,325,589 (GRCm39)	P758S	probably damaging	Het
Tenm2	A	T	11: 35,915,275 (GRCm39)	N2087K	probably damaging	Het
Tfrc	A	T	16: 32,448,969 (GRCm39)	I703F	probably damaging	Het
Thap1	C	G	8: 26,650,874 (GRCm39)	T48S	probably benign	Het
Tspear	T	C	10: 77,702,163 (GRCm39)	F199L	probably benign	Het
Usp17lc	A	T	7: 103,067,797 (GRCm39)	H364L	probably benign	Het
Usp9x	A	G	X: 12,989,747 (GRCm39)	R776G	possibly damaging	Homo
Vmn1r1	T	C	1: 181,984,789 (GRCm39)	E292G	possibly damaging	Het
Vmn1r125	T	G	7: 21,006,552 (GRCm39)	V150G	probably damaging	Het
Vmn1r167	A	T	7: 23,204,117 (GRCm39)	L300I	probably damaging	Het
Vmn2r106	A	C	17: 20,487,885 (GRCm39)	I838S	probably benign	Het
Wdr64	A	T	1: 175,554,060 (GRCm39)	S197C	probably damaging	Het
Zfp248	A	T	6: 118,410,268 (GRCm39)	V47E	possibly damaging	Het

Other mutations in Or5p52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00225:Or5p52	APN	7	107,502,311 (GRCm39)	missense	probably damaging	1.00
IGL02002:Or5p52	APN	7	107,502,497 (GRCm39)	missense	possibly damaging	0.81
IGL02320:Or5p52	APN	7	107,502,038 (GRCm39)	missense	possibly damaging	0.78
IGL02701:Or5p52	APN	7	107,502,649 (GRCm39)	missense	probably benign	0.42
IGL03022:Or5p52	APN	7	107,502,188 (GRCm39)	missense	probably benign	0.18
IGL03214:Or5p52	APN	7	107,502,173 (GRCm39)	missense	probably benign	0.00
IGL03257:Or5p52	APN	7	107,501,963 (GRCm39)	missense	probably benign	0.01
IGL03372:Or5p52	APN	7	107,502,577 (GRCm39)	missense	probably damaging	1.00
G1Funyon:Or5p52	UTSW	7	107,502,833 (GRCm39)	missense	probably benign	0.24
R0081:Or5p52	UTSW	7	107,502,212 (GRCm39)	missense	probably benign	0.00
R0669:Or5p52	UTSW	7	107,502,446 (GRCm39)	missense	probably damaging	1.00
R0932:Or5p52	UTSW	7	107,502,397 (GRCm39)	missense	possibly damaging	0.94
R1158:Or5p52	UTSW	7	107,502,130 (GRCm39)	missense	possibly damaging	0.75
R1746:Or5p52	UTSW	7	107,502,093 (GRCm39)	missense	probably benign	0.01
R3777:Or5p52	UTSW	7	107,501,954 (GRCm39)	missense	probably benign
R3778:Or5p52	UTSW	7	107,501,954 (GRCm39)	missense	probably benign
R4605:Or5p52	UTSW	7	107,502,445 (GRCm39)	missense	probably benign	0.24
R4675:Or5p52	UTSW	7	107,502,567 (GRCm39)	missense	probably damaging	1.00
R5374:Or5p52	UTSW	7	107,502,698 (GRCm39)	missense	possibly damaging	0.52
R5686:Or5p52	UTSW	7	107,502,119 (GRCm39)	missense	probably damaging	0.99
R6030:Or5p52	UTSW	7	107,502,620 (GRCm39)	missense	probably benign	0.06
R6030:Or5p52	UTSW	7	107,502,620 (GRCm39)	missense	probably benign	0.06
R6164:Or5p52	UTSW	7	107,502,595 (GRCm39)	missense	probably benign	0.01
R6347:Or5p52	UTSW	7	107,502,157 (GRCm39)	missense	possibly damaging	0.68
R6995:Or5p52	UTSW	7	107,502,829 (GRCm39)	missense	probably benign	0.13
R7035:Or5p52	UTSW	7	107,502,140 (GRCm39)	missense	probably benign
R7818:Or5p52	UTSW	7	107,502,230 (GRCm39)	missense	probably benign	0.01
R7890:Or5p52	UTSW	7	107,502,250 (GRCm39)	missense	probably benign	0.01
R8189:Or5p52	UTSW	7	107,501,939 (GRCm39)	missense	probably damaging	0.99
R8301:Or5p52	UTSW	7	107,502,833 (GRCm39)	missense	probably benign	0.24
R8965:Or5p52	UTSW	7	107,502,314 (GRCm39)	missense	probably damaging	1.00
R9269:Or5p52	UTSW	7	107,502,527 (GRCm39)	missense	possibly damaging	0.94
R9478:Or5p52	UTSW	7	107,502,238 (GRCm39)	missense	probably damaging	0.99
R9566:Or5p52	UTSW	7	107,502,409 (GRCm39)	missense	possibly damaging	0.52
Z1176:Or5p52	UTSW	7	107,502,265 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCATACCACTGTGGCAGAG -3'
(R):5'- TCTGAGTTGGTCCACAGAAGG -3'

Sequencing Primer
(F):5'- TCATCTTGGGACTAACAGAGGATCC -3'
(R):5'- AGTAAATGTCCAACCATTCACAAAG -3'

Posted On

2015-10-08