Mutagenetix > Incidental Mutation

Incidental Mutation 'R7671:Olfr1252'

592144

Institutional Source

Beutler Lab

Gene Symbol

Olfr1252

Ensembl Gene

ENSMUSG00000110819

Gene Name

olfactory receptor 1252

Synonyms

MOR231-22_p, GA_x6K02T2Q125-51162884-51161940

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.478) question?

Stock #

R7671 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89719575-89725012 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89721259 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 284 (I284K)

Ref Sequence

ENSEMBL: ENSMUSP00000150304 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000186710] [ENSMUST00000213196] [ENSMUST00000216203]

AlphaFold

Q7TQZ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000186710
AA Change: I284K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140045
Gene: ENSMUSG00000110819
AA Change: I284K

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	285	5.1e-28	PFAM
Pfam:7tm_4	137	278	1e-37	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213196
AA Change: I284K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216203
AA Change: I284K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	A	18: 38,259,925 (GRCm38)	I394N	probably damaging	Het
4930435E12Rik	C	T	16: 38,828,091 (GRCm38)	D219N	possibly damaging	Het
4932438A13Rik	T	C	3: 36,943,231 (GRCm38)	F1146L	probably damaging	Het
4933406M09Rik	T	C	1: 134,390,062 (GRCm38)	C191R	probably benign	Het
Akap13	C	A	7: 75,569,900 (GRCm38)	T17K	probably damaging	Het
Ankrd29	T	A	18: 12,260,986 (GRCm38)	K257I	probably damaging	Het
Bicc1	A	G	10: 70,957,167 (GRCm38)	L219P	probably benign	Het
Boc	C	T	16: 44,491,849 (GRCm38)	V617M		Het
Ccl8	A	G	11: 82,115,207 (GRCm38)		probably benign	Het
Col18a1	A	G	10: 77,085,383 (GRCm38)	L261P	unknown	Het
Col5a3	T	A	9: 20,775,086 (GRCm38)		probably null	Het
Cryba4	A	C	5: 112,248,173 (GRCm38)		probably null	Het
Csf2rb	A	G	15: 78,338,930 (GRCm38)	Y114C	probably damaging	Het
Ctif	T	C	18: 75,472,016 (GRCm38)	D484G	probably damaging	Het
Ctnnal1	A	G	4: 56,837,848 (GRCm38)	F261L	probably damaging	Het
Defb22	A	T	2: 152,486,030 (GRCm38)	N78K	unknown	Het
Efr3a	G	A	15: 65,837,434 (GRCm38)		probably null	Het
Elp4	G	T	2: 105,904,481 (GRCm38)	A3E	probably damaging	Het
Emilin2	A	G	17: 71,273,910 (GRCm38)	V607A	probably benign	Het
Epsti1	A	G	14: 77,904,490 (GRCm38)	Y2C	probably damaging	Het
Fam81b	A	C	13: 76,271,293 (GRCm38)	L46R	probably damaging	Het
Fam81b	G	T	13: 76,271,294 (GRCm38)	L46I	possibly damaging	Het
Fbxo15	T	A	18: 84,964,153 (GRCm38)	H288Q	probably damaging	Het
Gabrg1	T	A	5: 70,815,980 (GRCm38)	N77I	probably damaging	Het
Ganab	A	G	19: 8,912,852 (GRCm38)	Y715C	possibly damaging	Het
Hist3h2ba	T	C	11: 58,949,276 (GRCm38)	S113P	possibly damaging	Het
Iqgap2	T	C	13: 95,628,119 (GRCm38)	D1539G	probably damaging	Het
Kcp	T	C	6: 29,496,517 (GRCm38)	N633S	probably benign	Het
Krt6a	C	A	15: 101,690,543 (GRCm38)	S529I	unknown	Het
Leo1	A	G	9: 75,445,562 (GRCm38)	H129R	probably benign	Het
Lmf1	G	A	17: 25,579,349 (GRCm38)	V55M	possibly damaging	Het
Mcm9	A	G	10: 53,537,569 (GRCm38)	S472P	probably benign	Het
Med27	T	A	2: 29,377,938 (GRCm38)	V33D		Het
Mup15	C	T	4: 61,438,289 (GRCm38)	E80K	probably benign	Het
Myo18a	G	A	11: 77,859,420 (GRCm38)	R199H		Het
Nebl	T	A	2: 17,390,916 (GRCm38)	R558*	probably null	Het
Olfr1121	A	G	2: 87,372,269 (GRCm38)	T246A	probably damaging	Het
Olfr1329	A	T	4: 118,916,986 (GRCm38)	H160Q	probably benign	Het
Olfr506	T	C	7: 108,612,991 (GRCm38)	I228T	probably damaging	Het
Olfr740	G	T	14: 50,453,885 (GRCm38)	V278L	probably benign	Het
Olfr815	T	C	10: 129,902,353 (GRCm38)	D119G	probably damaging	Het
Olfr890	A	T	9: 38,143,440 (GRCm38)	M97L	probably benign	Het
Pde11a	A	T	2: 76,215,353 (GRCm38)	F376I	possibly damaging	Het
Prima1	A	T	12: 103,235,661 (GRCm38)	C52S	probably damaging	Het
Pxn	G	A	5: 115,548,547 (GRCm38)	R366H	not run	Het
Sgce	T	C	6: 4,691,564 (GRCm38)	Y337C	probably damaging	Het
Slc25a10	T	A	11: 120,495,460 (GRCm38)	M130K	probably benign	Het
Slc29a2	A	T	19: 5,024,262 (GRCm38)	N5I	probably benign	Het
Slc35a1	A	T	4: 34,673,875 (GRCm38)	H150Q		Het
Slc5a4a	T	A	10: 76,147,550 (GRCm38)	V7D	unknown	Het
Stk17b	T	A	1: 53,766,000 (GRCm38)	D134V	probably damaging	Het
Thbs3	T	A	3: 89,216,707 (GRCm38)	S36T	probably benign	Het
Thsd4	A	G	9: 60,428,174 (GRCm38)	S152P	probably benign	Het
Tmem67	G	T	4: 12,063,698 (GRCm38)	H422N	probably benign	Het
Tram1	C	A	1: 13,589,644 (GRCm38)	V27F	probably damaging	Het
Trim14	A	G	4: 46,507,238 (GRCm38)	V326A	possibly damaging	Het

Other mutations in Olfr1252

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01481:Olfr1252	APN	2	89,721,526 (GRCm38)	missense	probably damaging	1.00
PIT4151001:Olfr1252	UTSW	2	89,721,893 (GRCm38)	missense	probably benign	0.42
R1838:Olfr1252	UTSW	2	89,721,709 (GRCm38)	missense	probably damaging	0.99
R1866:Olfr1252	UTSW	2	89,721,206 (GRCm38)	missense	probably benign	0.00
R3835:Olfr1252	UTSW	2	89,721,455 (GRCm38)	missense	possibly damaging	0.75
R4577:Olfr1252	UTSW	2	89,722,043 (GRCm38)	missense	possibly damaging	0.80
R4675:Olfr1252	UTSW	2	89,721,494 (GRCm38)	missense	probably benign
R4799:Olfr1252	UTSW	2	89,721,362 (GRCm38)	missense	probably benign	0.24
R4845:Olfr1252	UTSW	2	89,721,776 (GRCm38)	missense	probably benign	0.05
R5076:Olfr1252	UTSW	2	89,721,401 (GRCm38)	missense	probably damaging	1.00
R5160:Olfr1252	UTSW	2	89,721,419 (GRCm38)	missense	probably damaging	0.99
R5384:Olfr1252	UTSW	2	89,721,305 (GRCm38)	missense	possibly damaging	0.94
R5418:Olfr1252	UTSW	2	89,721,999 (GRCm38)	missense	probably benign
R5763:Olfr1252	UTSW	2	89,722,028 (GRCm38)	missense	probably benign	0.00
R6997:Olfr1252	UTSW	2	89,721,925 (GRCm38)	missense	possibly damaging	0.71
R7013:Olfr1252	UTSW	2	89,721,386 (GRCm38)	missense	probably benign	0.20
R7500:Olfr1252	UTSW	2	89,721,937 (GRCm38)	missense	possibly damaging	0.90
R7608:Olfr1252	UTSW	2	89,721,298 (GRCm38)	missense	probably benign	0.42
R7781:Olfr1252	UTSW	2	89,721,535 (GRCm38)	missense	probably benign	0.38
R7841:Olfr1252	UTSW	2	89,721,965 (GRCm38)	missense	probably benign	0.06
R7999:Olfr1252	UTSW	2	89,722,000 (GRCm38)	missense	probably benign	0.06
R8147:Olfr1252	UTSW	2	89,721,842 (GRCm38)	missense	probably damaging	1.00
R8882:Olfr1252	UTSW	2	89,721,396 (GRCm38)	nonsense	probably null
X0064:Olfr1252	UTSW	2	89,721,356 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCAGGCTTATATCCACTGC -3'
(R):5'- GCAATGTCTATAGTGGTCTTTGTCC -3'

Sequencing Primer
(F):5'- AGGCTTATATCCACTGCATTCAC -3'
(R):5'- GTCTATAGTGGTCTTTGTCCTCCTC -3'

Posted On

2019-11-12