Mutagenetix > Incidental Mutation

Incidental Mutation 'R1838:Olfr1252'

205461

Institutional Source

Beutler Lab

Gene Symbol

Olfr1252

Ensembl Gene

ENSMUSG00000110819

Gene Name

olfactory receptor 1252

Synonyms

MOR231-22_p, GA_x6K02T2Q125-51162884-51161940

MMRRC Submission

039865-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

R1838 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89719575-89725012 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89721709 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 134 (M134K)

Ref Sequence

ENSEMBL: ENSMUSP00000150304 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000186710] [ENSMUST00000187990] [ENSMUST00000213196] [ENSMUST00000216203]

AlphaFold

Q7TQZ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000099766
AA Change: M134K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097354
Gene: ENSMUSG00000100601
AA Change: M134K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	6e-49	PFAM
Pfam:7tm_1	39	285	2.8e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000186710
AA Change: M134K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140045
Gene: ENSMUSG00000110819
AA Change: M134K

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: ENSMUST00000187990
AA Change: M134K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140066
Gene: ENSMUSG00000111715
AA Change: M134K

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	285	2.7e-28	PFAM
Pfam:7tm_4	137	278	3.5e-37	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213196
AA Change: M134K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216203
AA Change: M134K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.4%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	T	C	6: 132,626,727	D22G	unknown	Het
Abca4	G	A	3: 122,128,305	R1170K	probably benign	Het
Adam28	T	C	14: 68,639,210	N197S	possibly damaging	Het
Adamtsl3	G	T	7: 82,493,373	R267L	probably damaging	Het
Adgrb2	A	T	4: 130,010,231	T717S	probably benign	Het
Adgrb3	A	G	1: 25,084,270	S1417P	probably damaging	Het
Afg3l2	A	T	18: 67,414,172	V561D	probably damaging	Het
Atp13a2	T	A	4: 140,994,332	Y244*	probably null	Het
BB014433	C	G	8: 15,042,629	V75L	unknown	Het
Btnl6	T	A	17: 34,515,542	D82V	probably damaging	Het
Ccdc178	A	G	18: 22,067,638	Y421H	probably damaging	Het
Cdc123	A	T	2: 5,794,891		probably null	Het
Cdhr5	C	T	7: 141,272,603	V367I	possibly damaging	Het
Celsr3	A	G	9: 108,829,906	H1196R	probably benign	Het
Chd8	T	C	14: 52,204,883	S2077G	probably benign	Het
Col6a5	G	A	9: 105,864,833	H2296Y	probably benign	Het
Ctnna2	T	C	6: 77,845,542	D26G	probably damaging	Het
Ctr9	G	T	7: 111,052,303	R910L	possibly damaging	Het
Cyp2t4	G	T	7: 27,158,416	R455L	possibly damaging	Het
Cyp3a13	A	T	5: 137,911,632		probably null	Het
Dennd3	T	C	15: 73,565,100	S1059P	probably damaging	Het
Dennd4c	A	G	4: 86,825,178	T1135A	probably benign	Het
Dnah7b	T	C	1: 46,116,177	V295A	probably benign	Het
Dnah7b	C	A	1: 46,277,105	T3126K	probably damaging	Het
Ehbp1l1	C	T	19: 5,717,691	E1195K	probably benign	Het
Exoc6b	T	A	6: 84,853,678	I447L	probably benign	Het
Glt1d1	G	A	5: 127,678,129	V202I	probably benign	Het
Grk1	T	C	8: 13,416,155	V533A	possibly damaging	Het
Gsdma3	C	T	11: 98,629,858	A105V	probably benign	Het
Gzma	T	A	13: 113,095,984	I131F	probably damaging	Het
Helq	A	T	5: 100,771,879	L35*	probably null	Het
Hnrnpll	T	C	17: 80,038,623	N403S	probably damaging	Het
Hsf5	A	G	11: 87,636,055	K518E	probably benign	Het
Ighe	T	A	12: 113,271,850	H258L	unknown	Het
Il6ra	T	C	3: 89,890,272	D96G	probably benign	Het
Ints13	C	T	6: 146,566,611	A129T	possibly damaging	Het
Ipo7	T	A	7: 110,042,109	H345Q	probably damaging	Het
Kcna2	A	T	3: 107,104,512	E136D	probably benign	Het
Kif5a	G	A	10: 127,236,815	Q702*	probably null	Het
Klhdc7a	G	T	4: 139,967,070	P189T	probably benign	Het
Krtap4-9	A	G	11: 99,785,396		probably benign	Het
Lamc3	T	C	2: 31,925,582	S1097P	possibly damaging	Het
Ldlrad2	A	T	4: 137,572,170	N114K	probably benign	Het
Lrfn1	A	T	7: 28,459,768	I371L	probably damaging	Het
Lrwd1	A	G	5: 136,132,388	V240A	probably benign	Het
Lypd1	A	T	1: 125,873,371		probably benign	Het
Magi2	A	T	5: 20,465,827	T163S	probably damaging	Het
Man2c1	A	G	9: 57,137,337	N354S	probably benign	Het
Map3k13	T	C	16: 21,914,189	Y514H	possibly damaging	Het
Med15	T	C	16: 17,653,562	D577G	probably benign	Het
Mroh4	A	T	15: 74,616,113	M320K	probably benign	Het
Ms4a10	T	A	19: 10,964,047	D186V	possibly damaging	Het
Myh7	T	C	14: 54,973,180	N1725S	possibly damaging	Het
Myo5c	A	T	9: 75,273,553	R741S	probably damaging	Het
Naip6	T	C	13: 100,316,136	D139G	probably damaging	Het
Nat6	G	A	9: 107,583,017	R37H	possibly damaging	Het
Olfr1370	A	T	13: 21,072,425	L292*	probably null	Het
Olfr229	A	T	9: 39,909,841	I13F	possibly damaging	Het
Olfr982	A	T	9: 40,074,309	M5L	probably benign	Het
Pcdhb3	A	G	18: 37,301,317	D112G	probably benign	Het
Pdpr	C	A	8: 111,134,734	P787T	probably damaging	Het
Pgm3	C	T	9: 86,569,233	V123I	probably benign	Het
Pms1	A	C	1: 53,192,098		probably null	Het
Prl2b1	A	G	13: 27,388,566	S14P	possibly damaging	Het
Prune2	T	A	19: 17,199,878	W212R	probably damaging	Het
Rabgef1	A	G	5: 130,213,021	E422G	probably benign	Het
Ralyl	A	G	3: 14,143,412	E204G	probably damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,651,666		probably benign	Het
Rbpms2	TGCCGCCGCC	TGCCGCCGCCGCC	9: 65,651,680		probably benign	Het
Rit1	C	G	3: 88,729,170	T127S	probably damaging	Het
Slc16a7	C	T	10: 125,231,198	V191M	probably damaging	Het
Slc34a2	A	T	5: 53,058,436	H63L	probably benign	Het
Smpd4	G	A	16: 17,642,302		probably null	Het
Sp3	A	G	2: 72,938,176	S748P	possibly damaging	Het
Spata31d1b	G	A	13: 59,715,857	C273Y	probably benign	Het
Spata31d1b	G	A	13: 59,717,465	R809K	probably benign	Het
Tmco5	A	T	2: 116,880,879	E90V	probably damaging	Het
Tnxb	A	T	17: 34,678,910	D844V	probably damaging	Het
Tpi1	T	C	6: 124,814,152	T41A	probably benign	Het
Ttn	T	C	2: 76,727,192	I29853V	probably damaging	Het
Vmn2r26	C	T	6: 124,024,771	T5I	probably benign	Het
Wdr95	A	G	5: 149,599,366	D663G	probably benign	Het
Zbtb39	T	C	10: 127,742,700	F381S	probably damaging	Het
Zfp523	T	A	17: 28,194,993	I34N	probably damaging	Het
Zfp646	T	A	7: 127,879,739	Y363N	probably damaging	Het
Zfp712	A	C	13: 67,042,047	C139G	probably damaging	Het
Zfp958	A	G	8: 4,628,590	H205R	probably damaging	Het
Zfp974	G	A	7: 27,910,356	P648L	possibly damaging	Het

Other mutations in Olfr1252

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01481:Olfr1252	APN	2	89721526	missense	probably damaging	1.00
PIT4151001:Olfr1252	UTSW	2	89721893	missense	probably benign	0.42
R1866:Olfr1252	UTSW	2	89721206	missense	probably benign	0.00
R3835:Olfr1252	UTSW	2	89721455	missense	possibly damaging	0.75
R4577:Olfr1252	UTSW	2	89722043	missense	possibly damaging	0.80
R4675:Olfr1252	UTSW	2	89721494	missense	probably benign
R4799:Olfr1252	UTSW	2	89721362	missense	probably benign	0.24
R4845:Olfr1252	UTSW	2	89721776	missense	probably benign	0.05
R5076:Olfr1252	UTSW	2	89721401	missense	probably damaging	1.00
R5160:Olfr1252	UTSW	2	89721419	missense	probably damaging	0.99
R5384:Olfr1252	UTSW	2	89721305	missense	possibly damaging	0.94
R5418:Olfr1252	UTSW	2	89721999	missense	probably benign
R5763:Olfr1252	UTSW	2	89722028	missense	probably benign	0.00
R6997:Olfr1252	UTSW	2	89721925	missense	possibly damaging	0.71
R7013:Olfr1252	UTSW	2	89721386	missense	probably benign	0.20
R7500:Olfr1252	UTSW	2	89721937	missense	possibly damaging	0.90
R7608:Olfr1252	UTSW	2	89721298	missense	probably benign	0.42
R7671:Olfr1252	UTSW	2	89721259	missense	probably damaging	1.00
R7781:Olfr1252	UTSW	2	89721535	missense	probably benign	0.38
R7841:Olfr1252	UTSW	2	89721965	missense	probably benign	0.06
R7999:Olfr1252	UTSW	2	89722000	missense	probably benign	0.06
R8147:Olfr1252	UTSW	2	89721842	missense	probably damaging	1.00
R8882:Olfr1252	UTSW	2	89721396	nonsense	probably null
X0064:Olfr1252	UTSW	2	89721356	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGACATTGCTCCATTATTGCCAAC -3'
(R):5'- CTACTGCCATCTTGCCCAAG -3'

Sequencing Primer
(F):5'- GCTCCATTATTGCCAACTACAGTGAG -3'
(R):5'- GCCCAAGTTGCTTACAGATTTAC -3'

Posted On

2014-06-23