Mutagenetix > Incidental Mutation

Incidental Mutation 'R7442:Olfr102'

577052

Institutional Source

Beutler Lab

Gene Symbol

Olfr102

Ensembl Gene

ENSMUSG00000091531

Gene Name

olfactory receptor 102

Synonyms

MOR250-4, GA_x6K02T2PSCP-1775063-1774137

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R7442 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37311795-37317054 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37313925 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 153 (H153L)

Ref Sequence

ENSEMBL: ENSMUSP00000149168 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169373] [ENSMUST00000217590]

AlphaFold

B2RT33

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169373
AA Change: H153L

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126737
Gene: ENSMUSG00000091531
AA Change: H153L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	2.6e-52	PFAM
Pfam:7tm_1	39	289	8.3e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217590
AA Change: H153L

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (76/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	G	8: 79,220,290	I109T	probably damaging	Het
A430033K04Rik	T	C	5: 138,647,247	S465P	possibly damaging	Het
Acap3	T	C	4: 155,905,621	F753L	probably damaging	Het
Adam9	A	T	8: 24,967,207	V635E	probably damaging	Het
Adgre4	T	A	17: 55,852,340	V675E	probably benign	Het
Anapc4	T	C	5: 52,857,201	Y469H	probably benign	Het
Ankdd1b	T	G	13: 96,424,760	K325N	possibly damaging	Het
Aox1	T	C	1: 58,082,013	V881A	probably damaging	Het
Arhgap5	A	G	12: 52,516,956	T237A	probably benign	Het
Asah1	T	C	8: 41,343,565	D331G	possibly damaging	Het
Atp5a1	G	A	18: 77,779,120	R231H	probably benign	Het
Bod1l	G	A	5: 41,807,179	P2694L	probably damaging	Het
Bst1	T	C	5: 43,821,742	S143P	probably benign	Het
Cacna1b	A	C	2: 24,607,501	S2132A	probably benign	Het
Caps2	G	T	10: 112,208,354	R486L	probably damaging	Het
Cd68	T	C	11: 69,665,928	T18A	probably benign	Het
Cdk8	T	C	5: 146,292,769		probably null	Het
Col18a1	A	T	10: 77,096,238	I127N	unknown	Het
Dsc3	T	C	18: 19,981,156	D347G	probably damaging	Het
Dusp27	T	C	1: 166,101,015	K343E	probably benign	Het
Dyrk2	T	C	10: 118,859,881	S491G	probably damaging	Het
Edem1	T	A	6: 108,851,305	Y530*	probably null	Het
Enc1	A	T	13: 97,246,740	H586L	probably benign	Het
Ephb6	T	G	6: 41,618,047		probably null	Het
Etv5	G	T	16: 22,436,059	Q48K	probably damaging	Het
Exoc3l	A	G	8: 105,292,926	W404R	probably damaging	Het
Fbn1	C	A	2: 125,403,212	A252S	possibly damaging	Het
Foxe3	A	G	4: 114,925,293	S241P	unknown	Het
Gm49380	T	A	9: 44,112,412	M180L	probably benign	Het
Gm8251	A	G	1: 44,058,708	S1077P	possibly damaging	Het
Hoxd1	A	T	2: 74,763,559	D153V	probably damaging	Het
Ifi207	C	T	1: 173,727,431	S895N	probably benign	Het
Igf1r	G	A	7: 68,173,278	V385M	probably damaging	Het
Ints9	C	T	14: 64,995,064	Q191*	probably null	Het
Ktn1	A	G	14: 47,714,640	E979G	probably benign	Het
Lama3	G	A	18: 12,472,181		probably null	Het
Lrtm2	C	T	6: 119,317,431	M246I	probably damaging	Het
Mdm1	T	C	10: 118,146,685	V75A	probably benign	Het
Mia3	T	C	1: 183,358,876	E165G	probably benign	Het
Mrps21	T	C	3: 95,862,816	E67G	probably damaging	Het
Mybpc1	A	C	10: 88,526,293	I995S	probably damaging	Het
Mylk2	T	G	2: 152,911,426		probably benign	Het
Myo16	G	A	8: 10,272,537	C11Y	probably damaging	Het
Nudt18	A	C	14: 70,579,358	D134A	probably benign	Het
Obox1	G	T	7: 15,555,566	K93N	probably benign	Het
Olfr1019	A	T	2: 85,841,752	V13D	probably benign	Het
Olfr457	A	T	6: 42,471,500	M226K	probably benign	Het
Olfr684	T	C	7: 105,157,082	Y200C	probably damaging	Het
Pkd2l1	T	C	19: 44,157,229	H185R	probably benign	Het
Ptpn18	A	G	1: 34,462,750	T48A	probably benign	Het
Ptprd	A	T	4: 76,059,821	Y583*	probably null	Het
Ptprk	G	A	10: 28,574,819	G992D	probably damaging	Het
Setdb2	A	G	14: 59,419,251	F206L	probably damaging	Het
Slain1	A	G	14: 103,685,714	D247G	probably damaging	Het
Slc10a2	A	T	8: 5,089,086	V286E	possibly damaging	Het
Slc44a2	C	T	9: 21,345,523	T367I	probably damaging	Het
Slco4a1	T	C	2: 180,474,126	V685A	probably benign	Het
Srp54c	T	A	12: 55,255,562	Y333N	probably damaging	Het
Srrm2	T	C	17: 23,820,117	S1912P	unknown	Het
St7l	A	G	3: 104,889,329	T253A	possibly damaging	Het
Sun3	T	G	11: 9,031,445	Y53S	possibly damaging	Het
Tktl2	A	G	8: 66,512,909	N373S	possibly damaging	Het
Tmco3	T	A	8: 13,320,781	S648R	probably damaging	Het
Tmem178	T	A	17: 80,944,756	V23D	probably damaging	Het
Tmem229a	C	A	6: 24,955,690	G22W	probably damaging	Het
Top3a	C	T	11: 60,753,918	S320N	possibly damaging	Het
Treml1	C	A	17: 48,366,691	D243E	probably damaging	Het
Trim42	C	T	9: 97,362,945	V601M	probably damaging	Het
Ttn	A	G	2: 76,743,006	S25848P	probably damaging	Het
Vmn1r86	A	T	7: 13,102,056	F298I	possibly damaging	Het
Vmn2r96	T	C	17: 18,573,400	F2S	probably benign	Het
Xpc	A	G	6: 91,504,649	L230P	probably damaging	Het
Xpo4	A	G	14: 57,630,223	V189A	probably benign	Het
Zfhx3	A	G	8: 108,792,836	T197A	probably damaging	Het
Zswim1	A	G	2: 164,825,790	K321E	probably damaging	Het

Other mutations in Olfr102

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00901:Olfr102	APN	17	37313707	missense	possibly damaging	0.90
IGL01947:Olfr102	APN	17	37313665	missense	probably damaging	1.00
IGL02164:Olfr102	APN	17	37313687	missense	probably benign	0.01
IGL02465:Olfr102	APN	17	37313911	missense	probably damaging	0.99
IGL03095:Olfr102	APN	17	37313773	missense	probably benign	0.01
R0712:Olfr102	UTSW	17	37314084	missense	probably damaging	0.96
R1572:Olfr102	UTSW	17	37313480	missense	probably benign
R1749:Olfr102	UTSW	17	37314061	missense	probably benign	0.05
R3083:Olfr102	UTSW	17	37314195	missense	probably damaging	1.00
R4022:Olfr102	UTSW	17	37314274	missense	probably benign
R5203:Olfr102	UTSW	17	37314201	missense	probably damaging	1.00
R5367:Olfr102	UTSW	17	37314256	missense	probably damaging	1.00
R5387:Olfr102	UTSW	17	37314292	missense	probably benign	0.22
R5488:Olfr102	UTSW	17	37313668	missense	probably damaging	1.00
R6804:Olfr102	UTSW	17	37314130	missense	probably damaging	1.00
R7473:Olfr102	UTSW	17	37313631	missense	probably benign	0.03
R8110:Olfr102	UTSW	17	37313713	missense	probably benign	0.00
R8887:Olfr102	UTSW	17	37313751	missense	probably damaging	1.00
R9400:Olfr102	UTSW	17	37313663	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCATGCTGCAAGAACGAGTC -3'
(R):5'- TGGGATGCATAACTCAGCTCC -3'

Sequencing Primer
(F):5'- TCTTGAGGAAAAGATAGGTGATGATG -3'
(R):5'- GGGATGCATAACTCAGCTCCATTTC -3'

Posted On

2019-10-07