Mutagenetix > Incidental Mutation

Incidental Mutation 'R8919:Olfr552'

679124

Institutional Source

Beutler Lab

Gene Symbol

Olfr552

Ensembl Gene

ENSMUSG00000073973

Gene Name

olfactory receptor 552

Synonyms

GA_x6K02T2PBJ9-5323062-5324015, MOR28-1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R8919 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102597770-102608125 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102604504 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 50 (I50N)

Ref Sequence

ENSEMBL: ENSMUSP00000150317 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098223] [ENSMUST00000215712]

AlphaFold

E9Q545

Predicted Effect

probably damaging
Transcript: ENSMUST00000098223
AA Change: I50N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095826
Gene: ENSMUSG00000073973
AA Change: I50N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	6e-118	PFAM
Pfam:7TM_GPCR_Srsx	37	270	4.4e-8	PFAM
Pfam:7tm_1	43	294	9.6e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215712
AA Change: I50N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (81/82)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	C	17: 56,882,218	I209L	probably benign	Het
Aadat	C	T	8: 60,540,124	T373I	possibly damaging	Het
Abca13	T	C	11: 9,291,653	L1172P	possibly damaging	Het
Abcg2	A	G	6: 58,684,341	Y459C	probably benign	Het
AC125199.3	T	C	16: 88,812,173	N4D	possibly damaging	Het
Acad8	A	G	9: 26,999,489	M3T	probably benign	Het
Adcyap1r1	C	T	6: 55,497,095	T472I	probably damaging	Het
Ank3	A	T	10: 70,004,841	K1890N	possibly damaging	Het
Asic1	G	A	15: 99,671,945	C49Y	probably benign	Het
Atp1a1	T	C	3: 101,591,231	N215S	probably damaging	Het
C87436	A	G	6: 86,445,792	Y116C	probably damaging	Het
Car5a	T	C	8: 121,944,780	D5G	probably benign	Het
Ccdc169	T	C	3: 55,150,947		probably null	Het
Ccdc93	A	G	1: 121,499,241	R586G	probably damaging	Het
Cep295	A	G	9: 15,326,711	V131A	probably damaging	Het
Cox5a	A	G	9: 57,529,046	D60G	possibly damaging	Het
Cpne6	A	T	14: 55,512,647	E78D	probably benign	Het
Cyp2u1	T	C	3: 131,295,465	E390G	probably damaging	Het
Dab2	C	A	15: 6,435,790	N707K		Het
Dock10	A	T	1: 80,505,430	D2101E	probably benign	Het
Duoxa2	G	A	2: 122,301,876		probably null	Het
Eif4a3	T	C	11: 119,299,932	D22G	probably benign	Het
Fam160a2	T	C	7: 105,388,270	T369A	possibly damaging	Het
Fubp3	A	G	2: 31,592,464		probably null	Het
Gm10330	A	G	12: 23,779,886	L98P	probably benign	Het
Gm5108	A	G	5: 67,976,956	*102W	probably null	Het
Gpr149	A	C	3: 62,531,057	S560A	probably damaging	Het
Haspin	T	C	11: 73,136,604	D553G	probably benign	Het
Hsf1	C	T	15: 76,497,851	H104Y	probably benign	Het
Ifi203	T	C	1: 173,928,928	T430A	unknown	Het
Itih2	G	A	2: 10,098,011	Q771*	probably null	Het
Kazald1	T	A	19: 45,076,956	L92Q	probably damaging	Het
Krt19	T	C	11: 100,141,154	E324G	probably damaging	Het
Lrrc28	A	T	7: 67,619,085	V79E	possibly damaging	Het
Ltn1	T	A	16: 87,381,493	Q1616L	probably damaging	Het
Mdc1	A	G	17: 35,847,951	K408E	probably benign	Het
Nalcn	A	T	14: 123,323,872	M738K	probably benign	Het
Ncoa4	T	C	14: 32,172,891	L125P	probably damaging	Het
Ncor2	G	T	5: 125,029,189	R810S		Het
Neb	C	T	2: 52,237,129	G348D		Het
Nfat5	T	A	8: 107,368,596	F1156L	probably damaging	Het
Oit3	G	A	10: 59,441,646	T13I	unknown	Het
Olfr1135	A	C	2: 87,672,223	L48W	probably damaging	Het
Olfr1404	T	C	1: 173,216,497	I282T	probably damaging	Het
Olfr490	A	G	7: 108,287,082	F15L	probably damaging	Het
Olfr785	G	T	10: 129,410,213	M282I	probably benign	Het
Opa1	A	C	16: 29,605,522	Q230P	probably damaging	Het
Papd7	G	T	13: 69,503,709	T531N	possibly damaging	Het
Parpbp	T	C	10: 88,110,327	H410R	probably null	Het
Pex5l	A	G	3: 32,953,184	V481A	probably damaging	Het
Plekhh3	C	A	11: 101,166,399	R344L	probably benign	Het
Prrc2b	T	C	2: 32,214,941	V1477A	probably benign	Het
Ptp4a2	G	A	4: 129,845,152	G94S	possibly damaging	Het
Ptprk	T	A	10: 28,483,207	Y598*	probably null	Het
Rfx5	C	A	3: 94,957,164	T207N	probably damaging	Het
Rnase2b	A	G	14: 51,162,890	T143A	possibly damaging	Het
Scn1a	A	G	2: 66,337,986	V92A	probably benign	Het
Shank2	C	A	7: 144,411,528	P958T	probably damaging	Het
Slc13a1	A	G	6: 24,108,195	I294T	probably damaging	Het
Slc4a8	A	T	15: 100,814,540	E1084D	probably benign	Het
Smurf1	T	A	5: 144,883,612	R549*	probably null	Het
Sprr2b	T	C	3: 92,317,725	C93R	unknown	Het
Tcn2	G	T	11: 3,923,569	S259Y	probably damaging	Het
Tex43	T	C	18: 56,592,465	F66L	probably damaging	Het
Tle1	A	G	4: 72,158,288	S168P	possibly damaging	Het
Tnfrsf1b	C	T	4: 145,223,580	G264D	probably damaging	Het
Tnks2	T	A	19: 36,845,688	N118K	probably damaging	Het
Topaz1	G	T	9: 122,797,865		probably benign	Het
Traf3ip1	A	G	1: 91,516,074		probably benign	Het
Ttk	A	G	9: 83,839,269	E69G	probably damaging	Het
Tulp3	T	C	6: 128,334,003	D87G	probably benign	Het
Usp38	C	T	8: 80,981,850	G1033D	probably damaging	Het
Usp44	T	A	10: 93,857,913	N707K	probably benign	Het
Vipas39	T	A	12: 87,259,084	R112*	probably null	Het
Vmn1r185	A	C	7: 26,611,781	S100A	probably damaging	Het
Vmn1r209	T	C	13: 22,806,053	M156V	probably benign	Het
Vmn1r3	G	A	4: 3,184,863	T148I	probably benign	Het
Wdr41	G	A	13: 95,015,112	R260H	probably benign	Het
Wdr90	G	A	17: 25,857,172	R104C		Het
Wnk2	A	T	13: 49,068,235	H1183Q	possibly damaging	Het
Zfp667	A	T	7: 6,305,257	H308L	possibly damaging	Het
Zfp952	A	G	17: 33,001,654	N18D	possibly damaging	Het

Other mutations in Olfr552

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00937:Olfr552	APN	7	102604357	start codon destroyed	probably null	0.99
IGL03061:Olfr552	APN	7	102604739	missense	probably damaging	0.99
R0989:Olfr552	UTSW	7	102604483	missense	probably damaging	1.00
R1513:Olfr552	UTSW	7	102605302	missense	probably benign	0.09
R1969:Olfr552	UTSW	7	102604570	missense	probably damaging	0.99
R3177:Olfr552	UTSW	7	102604576	missense	possibly damaging	0.94
R3277:Olfr552	UTSW	7	102604576	missense	possibly damaging	0.94
R4019:Olfr552	UTSW	7	102604642	missense	probably damaging	1.00
R4028:Olfr552	UTSW	7	102605293	missense	possibly damaging	0.62
R5216:Olfr552	UTSW	7	102604821	missense	probably benign	0.00
R5444:Olfr552	UTSW	7	102604869	nonsense	probably null
R5461:Olfr552	UTSW	7	102604408	missense	probably damaging	0.99
R7706:Olfr552	UTSW	7	102604646	missense	probably benign	0.12
R8348:Olfr552	UTSW	7	102605000	missense	probably benign	0.01
R8448:Olfr552	UTSW	7	102605000	missense	probably benign	0.01
R8933:Olfr552	UTSW	7	102604430	missense	probably damaging	1.00
R9009:Olfr552	UTSW	7	102604435	missense	probably benign	0.00
R9139:Olfr552	UTSW	7	102604978	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTCTGTGGAAGTAGATTGGAAG -3'
(R):5'- GGCCAACAACATTGCTGACTC -3'

Sequencing Primer
(F):5'- GGCCTAGAGCACTTACAT -3'
(R):5'- CATTGCTGACTCCATGATAGCAAAGG -3'

Posted On

2021-08-02