Mutagenetix > Incidental Mutations

Incidental Mutation 'R5435:Olfr992'

428245

Institutional Source

Beutler Lab

Gene Symbol

Olfr992

Ensembl Gene

ENSMUSG00000075221

Gene Name

olfactory receptor 992

Synonyms

MOR203-1, GA_x6K02T2Q125-46877170-46876241

MMRRC Submission

043000-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R5435 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85398824-85409469 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85400470 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 21 (N21I)

Ref Sequence

ENSEMBL: ENSMUSP00000149132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099927] [ENSMUST00000213749] [ENSMUST00000214895] [ENSMUST00000215617]

Predicted Effect

probably benign
Transcript: ENSMUST00000099927
AA Change: N21I

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000097511
Gene: ENSMUSG00000075221
AA Change: N21I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	3.3e-51	PFAM
Pfam:7TM_GPCR_Srsx	35	285	3.3e-6	PFAM
Pfam:7tm_1	41	290	7.1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213749
AA Change: N21I

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000214895
AA Change: N21I

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000215617
AA Change: N21I

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215967

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (74/74)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,741,250		probably benign	Het
3425401B19Rik	A	G	14: 32,661,456	F851L	probably benign	Het
Abca17	C	T	17: 24,267,614	V1480I	possibly damaging	Het
Acsbg1	G	T	9: 54,615,869	Y491*	probably null	Het
Acsf3	T	A	8: 122,780,281	N104K	probably damaging	Het
Adam23	T	C	1: 63,546,453	Y400H	possibly damaging	Het
Adgra3	G	A	5: 49,990,126	T524M	probably damaging	Het
Aff1	G	A	5: 103,754,332		probably benign	Het
Anxa9	T	C	3: 95,297,250	Y321C	probably damaging	Het
Ap1g1	T	A	8: 109,838,920	Y329N	probably damaging	Het
Aph1c	A	T	9: 66,834,501	I33N	possibly damaging	Het
B3galnt2	A	G	13: 13,996,990	E491G	probably benign	Het
Bdh1	C	T	16: 31,456,657	R235C	probably damaging	Het
Ccar2	A	G	14: 70,139,327	L856P	probably damaging	Het
Ccdc107	A	T	4: 43,493,519	D30V	probably damaging	Het
Ccdc116	G	T	16: 17,142,762	H64N	probably benign	Het
Ccl12	T	C	11: 82,103,175	I86T	possibly damaging	Het
Col2a1	T	C	15: 98,000,510		probably benign	Het
Col4a4	T	A	1: 82,454,007	I1519F	unknown	Het
Ddx19b	T	C	8: 111,008,826	Q416R	possibly damaging	Het
Dnah6	T	A	6: 73,060,138	M3374L	probably benign	Het
Dnajc6	A	T	4: 101,606,610	I119F	probably damaging	Het
Ensa	C	A	3: 95,622,458		probably benign	Het
Fbxo4	C	T	15: 3,965,792	V357I	possibly damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Foxf1	G	A	8: 121,084,492	G32S	probably damaging	Het
Gls2	G	A	10: 128,195,126		probably benign	Het
Gm13599	T	A	2: 67,396,152		noncoding transcript	Het
Gmnn	A	G	13: 24,752,101	S197P	probably benign	Het
Guf1	A	T	5: 69,563,169	H324L	probably benign	Het
H2-Q6	A	G	17: 35,425,685	D150G	probably damaging	Het
Herc3	T	A	6: 58,855,806	L152Q	probably damaging	Het
Hnrnpul2	T	G	19: 8,820,318	S13A	probably benign	Het
Ighv5-4	A	G	12: 113,597,663	F46L	probably benign	Het
Kank1	T	G	19: 25,411,143	S727A	probably benign	Het
Kcnma1	A	T	14: 23,528,404	Y201*	probably null	Het
Lyst	A	T	13: 13,777,064	H3750L	possibly damaging	Het
Mettl25	A	G	10: 105,779,586		probably null	Het
Mpdz	A	G	4: 81,283,487		probably benign	Het
Myh9	C	T	15: 77,769,609	V1280I	probably benign	Het
Neto1	A	T	18: 86,398,263	T32S	probably benign	Het
Nol7	C	A	13: 43,401,372	H187Q	possibly damaging	Het
Pcdha8	A	G	18: 36,993,599	D378G	probably damaging	Het
Peak1	A	G	9: 56,206,486	S694P	probably damaging	Het
Pih1d1	T	A	7: 45,156,272		probably null	Het
Pik3c2g	T	G	6: 139,715,855		probably null	Het
Prkar2a	A	G	9: 108,740,483	R247G	probably damaging	Het
Psg26	A	G	7: 18,478,473	I319T	possibly damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rasa3	T	C	8: 13,631,811	E46G	possibly damaging	Het
Rbbp5	T	A	1: 132,494,275	H304Q	probably damaging	Het
Scn1a	T	A	2: 66,273,534	E1783V	probably damaging	Het
Stag1	A	G	9: 100,953,550	N151S	probably benign	Het
Tbc1d32	C	A	10: 56,040,150	A1191S	probably damaging	Het
Tchh	C	A	3: 93,443,672	R140S	possibly damaging	Het
Trank1	A	G	9: 111,391,890	Y2565C	probably benign	Het
Ttn	A	T	2: 76,914,358	V5449D	probably damaging	Het
Tubgcp2	G	A	7: 139,996,072	P893S	possibly damaging	Het
Wdfy4	A	G	14: 33,020,311	F2325S	probably damaging	Het
Wdr35	A	G	12: 8,989,951	D352G	probably benign	Het
Wee1	TCCCC	TCCC	7: 110,124,569		probably null	Het
Ypel3	A	G	7: 126,775,788		probably benign	Het
Zan	T	A	5: 137,403,762	T4023S	unknown	Het
Zfp735	T	A	11: 73,712,113	C628S	possibly damaging	Het

Other mutations in Olfr992

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01613:Olfr992	APN	2	85400171	missense	probably damaging	1.00
IGL02538:Olfr992	APN	2	85400303	missense	probably damaging	1.00
IGL02550:Olfr992	APN	2	85399822	missense	probably damaging	0.99
R0128:Olfr992	UTSW	2	85399961	missense	probably damaging	0.99
R0130:Olfr992	UTSW	2	85399961	missense	probably damaging	0.99
R0345:Olfr992	UTSW	2	85400341	missense	possibly damaging	0.60
R0413:Olfr992	UTSW	2	85399675	missense	probably damaging	1.00
R0535:Olfr992	UTSW	2	85400095	missense	possibly damaging	0.71
R1243:Olfr992	UTSW	2	85400273	missense	probably benign
R1255:Olfr992	UTSW	2	85400303	missense	probably damaging	1.00
R1293:Olfr992	UTSW	2	85400353	splice site	probably null
R1840:Olfr992	UTSW	2	85400168	missense	probably benign	0.42
R1847:Olfr992	UTSW	2	85400441	missense	probably damaging	0.99
R2300:Olfr992	UTSW	2	85400132	missense	probably benign
R4574:Olfr992	UTSW	2	85400026	missense	probably damaging	1.00
R4872:Olfr992	UTSW	2	85400428	missense	probably damaging	1.00
R6846:Olfr992	UTSW	2	85400517	missense	probably damaging	1.00
R7075:Olfr992	UTSW	2	85400200	missense	probably damaging	1.00
R7253:Olfr992	UTSW	2	85399639	missense	probably benign	0.00
R7454:Olfr992	UTSW	2	85399611	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAAATTTTGCAGTGTCCTGGG -3'
(R):5'- CATCTGTACACATATGCCCAATTTCAC -3'

Sequencing Primer
(F):5'- TCCTGGGAGTGATGGCAGAG -3'
(R):5'- TGCCCAATTTCACATAAATGTACAC -3'

Posted On

2016-09-01