Mutagenetix > Incidental Mutation

Incidental Mutation 'R3850:Or5aq1b'

275854

Institutional Source

Beutler Lab

Gene Symbol

Or5aq1b

Ensembl Gene

ENSMUSG00000075163

Gene Name

olfactory receptor family 5 subfamily AQ member 1B

Synonyms

GA_x6K02T2Q125-48565383-48564445, Olfr1107, MOR172-2

MMRRC Submission

040898-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R3850 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86901459-86902567 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86902310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 56 (H56L)

Ref Sequence

ENSEMBL: ENSMUSP00000150135 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099865] [ENSMUST00000214049]

AlphaFold

A2AVB8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099865
AA Change: H56L

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097450
Gene: ENSMUSG00000075163
AA Change: H56L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.9e-53	PFAM
Pfam:7tm_1	41	290	1.9e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214049
AA Change: H56L

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (59/59)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	T	4: 53,061,481 (GRCm39)		probably benign	Het
Abcc5	A	T	16: 20,190,906 (GRCm39)	S815T	probably benign	Het
Adamts17	T	A	7: 66,490,215 (GRCm39)	L99Q	possibly damaging	Het
Adamtsl1	A	T	4: 86,336,783 (GRCm39)	Q1564L	probably damaging	Het
Als2cl	A	G	9: 110,718,377 (GRCm39)		probably benign	Het
Antxrl	C	A	14: 33,789,338 (GRCm39)	H309Q	probably benign	Het
Ap1g2	T	C	14: 55,342,363 (GRCm39)	M165V	probably benign	Het
Cacna2d3	A	G	14: 29,069,077 (GRCm39)		probably null	Het
Cdh16	T	C	8: 105,344,473 (GRCm39)	D22G	possibly damaging	Het
Cdh17	A	G	4: 11,785,201 (GRCm39)	D331G	probably damaging	Het
Csmd1	C	G	8: 16,129,936 (GRCm39)	V1729L	probably benign	Het
Cul5	T	G	9: 53,529,286 (GRCm39)	M800L	probably benign	Het
Cwf19l1	T	C	19: 44,119,937 (GRCm39)	Y68C	probably benign	Het
Dst	C	T	1: 34,228,355 (GRCm39)	Q1658*	probably null	Het
Dst	C	T	1: 34,251,400 (GRCm39)	S4165F	probably damaging	Het
Fan1	T	C	7: 64,022,119 (GRCm39)	Y378C	probably damaging	Het
Fat4	T	A	3: 39,061,410 (GRCm39)	V4331D	probably benign	Het
Fbxl8	T	C	8: 105,993,781 (GRCm39)	S46P	probably benign	Het
Golgb1	C	A	16: 36,719,095 (GRCm39)	Q334K	probably benign	Het
Hoxc10	T	C	15: 102,875,879 (GRCm39)	V196A	probably benign	Het
Hsf4	T	C	8: 105,997,469 (GRCm39)	F101L	probably damaging	Het
Hydin	T	C	8: 111,290,561 (GRCm39)	I3340T	probably damaging	Het
Igfbpl1	C	T	4: 45,826,426 (GRCm39)	R123H	probably benign	Het
Mov10l1	A	T	15: 88,889,898 (GRCm39)		probably null	Het
Mrc2	T	C	11: 105,183,729 (GRCm39)		probably null	Het
Muc5b	G	A	7: 141,416,375 (GRCm39)	C3107Y	possibly damaging	Het
Naip2	A	T	13: 100,315,940 (GRCm39)	L280Q	probably damaging	Het
Naip2	G	C	13: 100,315,941 (GRCm39)	L280V	probably damaging	Het
Nek1	T	A	8: 61,525,349 (GRCm39)	F596I	probably damaging	Het
Nfasc	T	C	1: 132,559,471 (GRCm39)	T214A	probably damaging	Het
Or4a72	T	C	2: 89,405,378 (GRCm39)	R231G	probably damaging	Het
Or7d10	A	T	9: 19,832,105 (GRCm39)	Y200F	probably damaging	Het
Pcdhga10	C	T	18: 37,882,074 (GRCm39)	P612S	probably damaging	Het
Picalm	A	G	7: 89,840,912 (GRCm39)	N456S	probably damaging	Het
Pigo	A	G	4: 43,025,084 (GRCm39)	F5S	probably benign	Het
Pikfyve	T	C	1: 65,270,004 (GRCm39)	F563S	probably damaging	Het
Plod2	A	G	9: 92,424,598 (GRCm39)	E29G	probably benign	Het
Pm20d2	A	G	4: 33,174,414 (GRCm39)	V403A	probably damaging	Het
Proz	A	G	8: 13,123,533 (GRCm39)	E268G	probably benign	Het
Rb1cc1	T	A	1: 6,320,337 (GRCm39)	V1252D	probably benign	Het
Rimbp3	A	T	16: 17,028,163 (GRCm39)	H529L	probably benign	Het
Rmdn3	A	T	2: 118,986,903 (GRCm39)	H41Q	possibly damaging	Het
Rnf17	T	C	14: 56,749,753 (GRCm39)	V1433A	probably damaging	Het
Ror1	A	G	4: 100,299,357 (GRCm39)	Y910C	possibly damaging	Het
Scn2a	C	T	2: 65,512,375 (GRCm39)	L171F	probably benign	Het
Sh3pxd2b	A	G	11: 32,361,505 (GRCm39)	E239G	probably damaging	Het
Smim33	G	A	18: 35,861,767 (GRCm39)	V84I	probably benign	Het
Snx27	G	T	3: 94,427,542 (GRCm39)	T311K	probably benign	Het
Sspo	T	A	6: 48,469,424 (GRCm39)	L4459Q	probably damaging	Het
Syne2	T	C	12: 76,095,396 (GRCm39)	L5241P	probably damaging	Het
Tas2r110	T	A	6: 132,845,638 (GRCm39)	I223N	probably damaging	Het
Tead2	T	A	7: 44,881,752 (GRCm39)		probably null	Het
Thap12	G	T	7: 98,365,870 (GRCm39)	K679N	probably damaging	Het
Vmn2r65	T	A	7: 84,595,859 (GRCm39)	H275L	probably benign	Het
Wfs1	C	A	5: 37,125,968 (GRCm39)	V308L	probably benign	Het
Zfp229	C	A	17: 21,964,843 (GRCm39)	H358N	probably damaging	Het
Zfp687	T	C	3: 94,915,225 (GRCm39)	D1092G	probably damaging	Het

Other mutations in Or5aq1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00905:Or5aq1b	APN	2	86,901,563 (GRCm39)	missense	probably benign	0.00
IGL01521:Or5aq1b	APN	2	86,902,077 (GRCm39)	missense	probably benign	0.11
IGL03350:Or5aq1b	APN	2	86,901,904 (GRCm39)	missense	probably damaging	1.00
PIT4791001:Or5aq1b	UTSW	2	86,902,046 (GRCm39)	missense	possibly damaging	0.94
R0801:Or5aq1b	UTSW	2	86,902,407 (GRCm39)	nonsense	probably null
R1383:Or5aq1b	UTSW	2	86,902,136 (GRCm39)	missense	probably damaging	1.00
R1577:Or5aq1b	UTSW	2	86,901,741 (GRCm39)	missense	probably benign	0.15
R1762:Or5aq1b	UTSW	2	86,902,265 (GRCm39)	missense	probably damaging	1.00
R2027:Or5aq1b	UTSW	2	86,901,897 (GRCm39)	missense	possibly damaging	0.85
R5345:Or5aq1b	UTSW	2	86,901,836 (GRCm39)	missense	possibly damaging	0.61
R5409:Or5aq1b	UTSW	2	86,902,214 (GRCm39)	missense	possibly damaging	0.64
R5451:Or5aq1b	UTSW	2	86,902,341 (GRCm39)	missense	probably damaging	1.00
R5735:Or5aq1b	UTSW	2	86,901,756 (GRCm39)	missense	probably damaging	1.00
R6091:Or5aq1b	UTSW	2	86,901,705 (GRCm39)	missense	probably benign	0.03
R6869:Or5aq1b	UTSW	2	86,902,017 (GRCm39)	missense	probably benign	0.11
R7080:Or5aq1b	UTSW	2	86,902,083 (GRCm39)	missense	probably damaging	1.00
R8130:Or5aq1b	UTSW	2	86,901,570 (GRCm39)	missense	probably benign	0.09
R8147:Or5aq1b	UTSW	2	86,902,017 (GRCm39)	missense	probably benign	0.11
R9087:Or5aq1b	UTSW	2	86,902,299 (GRCm39)	missense	probably damaging	1.00
R9619:Or5aq1b	UTSW	2	86,902,140 (GRCm39)	missense	possibly damaging	0.94
Z1177:Or5aq1b	UTSW	2	86,902,457 (GRCm39)	missense	probably damaging	1.00
Z1177:Or5aq1b	UTSW	2	86,902,109 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- ATTGCCACATAACGGTCATAAGC -3'
(R):5'- TCATGATAACAAGGAGCTGTAGAC -3'

Sequencing Primer
(F):5'- CGGTCATAAGCCATCATAGACAG -3'
(R):5'- TGATAACAAGGAGCTGTAGACTATTG -3'

Posted On

2015-04-06