Mutagenetix > Incidental Mutation

Incidental Mutation 'R9326:Or5aq1'

706496

Institutional Source

Beutler Lab

Gene Symbol

Or5aq1

Ensembl Gene

ENSMUSG00000075159

Gene Name

olfactory receptor family 5 subfamily AQ member 1

Synonyms

MOR172-4, Olfr1110, GA_x6K02T2Q125-48621299-48620361

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R9326 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86965725-86970577 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86966647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 6 (H6R)

Ref Sequence

ENSEMBL: ENSMUSP00000149495 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099861] [ENSMUST00000152758]

AlphaFold

Q8VG38

Predicted Effect

probably benign
Transcript: ENSMUST00000099861
AA Change: H6R

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097447
Gene: ENSMUSG00000075159
AA Change: H6R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	3.1e-53	PFAM
Pfam:7tm_1	41	290	1.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152758
AA Change: H6R

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	T	10: 28,849,882 (GRCm39)	Y230*	probably null	Het
Adamts14	A	G	10: 61,036,238 (GRCm39)	S1015P	probably benign	Het
Adamts8	A	G	9: 30,854,886 (GRCm39)	T252A	probably benign	Het
Adamtsl1	T	A	4: 86,150,804 (GRCm39)	S149T	possibly damaging	Het
Afp	A	G	5: 90,652,205 (GRCm39)	K399E	probably damaging	Het
Atp8b1	T	A	18: 64,706,344 (GRCm39)	S222C	probably damaging	Het
Ccdc88c	C	A	12: 100,995,109 (GRCm39)		probably benign	Het
Cfap276	C	T	3: 108,451,931 (GRCm39)	R159W	probably damaging	Het
Cip2a	G	A	16: 48,834,235 (GRCm39)		probably null	Het
Cluh	A	G	11: 74,554,902 (GRCm39)	K780R	probably benign	Het
Cope	C	A	8: 70,755,516 (GRCm39)	F20L	possibly damaging	Het
Cps1	G	T	1: 67,248,795 (GRCm39)	R1174L	probably damaging	Het
Csmd1	G	A	8: 16,049,803 (GRCm39)	T2271I	probably benign	Het
Ctbp2	A	G	7: 132,616,359 (GRCm39)	I192T	probably benign	Het
Dcun1d4	A	G	5: 73,680,018 (GRCm39)	T106A	probably benign	Het
Ddb2	A	T	2: 91,047,559 (GRCm39)	M240K	probably benign	Het
Ddx20	A	T	3: 105,591,735 (GRCm39)	V145D	probably damaging	Het
Ddx31	A	G	2: 28,749,008 (GRCm39)	D268G	probably damaging	Het
Drc7	A	G	8: 95,801,886 (GRCm39)	I716V	probably benign	Het
Epb41l4a	G	T	18: 33,961,261 (GRCm39)	Y424*	probably null	Het
Exog	A	G	9: 119,291,554 (GRCm39)	N277S	probably damaging	Het
Fzd7	T	C	1: 59,522,837 (GRCm39)	L240P	possibly damaging	Het
Gpr87	T	C	3: 59,086,609 (GRCm39)	T299A	probably damaging	Het
Hecw2	A	G	1: 54,079,369 (GRCm39)	Y95H	probably damaging	Het
Idh1	T	C	1: 65,205,416 (GRCm39)	Y183C	probably damaging	Het
Ighv14-4	T	A	12: 114,140,469 (GRCm39)	I7F	possibly damaging	Het
Il1rap	A	T	16: 26,495,641 (GRCm39)	I83F	probably damaging	Het
Jag1	A	G	2: 136,931,745 (GRCm39)	S609P	probably benign	Het
Klhl33	T	C	14: 51,134,615 (GRCm39)	E9G	possibly damaging	Het
Lama2	A	G	10: 26,906,193 (GRCm39)	F2421L	probably benign	Het
Lmod2	A	T	6: 24,597,999 (GRCm39)	I40F	probably damaging	Het
Lsm5	A	T	6: 56,681,616 (GRCm39)	L13Q	possibly damaging	Het
Man2c1	G	T	9: 57,042,904 (GRCm39)	C258F	probably damaging	Het
Mgst1	T	C	6: 138,120,023 (GRCm39)	S28P	probably benign	Het
Msh3	A	T	13: 92,400,307 (GRCm39)	V744E	probably benign	Het
Mtx2	C	T	2: 74,656,287 (GRCm39)		probably benign	Het
N4bp3	C	T	11: 51,535,313 (GRCm39)	R292H	probably benign	Het
Neto2	A	T	8: 86,369,063 (GRCm39)	W354R	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Nutm1	A	T	2: 112,078,692 (GRCm39)	S1074R	possibly damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or10ag56	T	A	2: 87,139,730 (GRCm39)	M219K	probably benign	Het
Or7g29	A	T	9: 19,286,346 (GRCm39)	M277K	probably damaging	Het
Or8s8	T	C	15: 98,354,935 (GRCm39)	V248A	probably damaging	Het
Pi4kb	T	A	3: 94,900,506 (GRCm39)		probably null	Het
Rgsl1	C	T	1: 153,679,768 (GRCm39)	D103N	probably benign	Het
Rrbp1	G	A	2: 143,806,744 (GRCm39)	T958M	probably damaging	Het
S100a13	G	T	3: 90,423,170 (GRCm39)	D54Y	unknown	Het
Setd2	T	C	9: 110,378,671 (GRCm39)	C829R	probably benign	Het
Snd1	A	T	6: 28,795,842 (GRCm39)	R562*	probably null	Het
Snx27	A	T	3: 94,409,369 (GRCm39)	Y526N	probably damaging	Het
Stab2	A	G	10: 86,791,010 (GRCm39)	L483P	probably damaging	Het
Sybu	A	G	15: 44,537,019 (GRCm39)	S436P	probably damaging	Het
Thy1	A	G	9: 43,957,983 (GRCm39)	D37G	probably damaging	Het
Tmed8	A	T	12: 87,221,395 (GRCm39)	I126N	probably damaging	Het
Tmem161b	T	A	13: 84,440,602 (GRCm39)	L340*	probably null	Het
Tpr	C	T	1: 150,301,407 (GRCm39)	A1331V	possibly damaging	Het
Tprg1	G	A	16: 25,136,107 (GRCm39)	E33K	probably benign	Het
Vps26b	T	C	9: 26,930,627 (GRCm39)	N123D	probably damaging	Het
Wdr7	G	A	18: 63,872,260 (GRCm39)	S398N	probably benign	Het
Zbtb48	T	C	4: 152,111,509 (GRCm39)	D2G	probably damaging	Het
Zfp975	G	A	7: 42,311,837 (GRCm39)	R259*	probably null	Het
Zfp986	T	A	4: 145,626,451 (GRCm39)	H370Q	probably damaging	Het

Other mutations in Or5aq1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01447:Or5aq1	APN	2	86,966,343 (GRCm39)	nonsense	probably null
IGL01723:Or5aq1	APN	2	86,965,822 (GRCm39)	missense	probably benign	0.01
IGL01887:Or5aq1	APN	2	86,965,885 (GRCm39)	missense	possibly damaging	0.89
IGL01903:Or5aq1	APN	2	86,965,723 (GRCm39)	splice site	probably null
IGL02214:Or5aq1	APN	2	86,965,849 (GRCm39)	missense	probably damaging	1.00
R0990:Or5aq1	UTSW	2	86,966,086 (GRCm39)	missense	possibly damaging	0.69
R1933:Or5aq1	UTSW	2	86,966,188 (GRCm39)	missense	probably damaging	1.00
R2226:Or5aq1	UTSW	2	86,966,590 (GRCm39)	missense	possibly damaging	0.87
R3770:Or5aq1	UTSW	2	86,966,158 (GRCm39)	missense	probably damaging	1.00
R4459:Or5aq1	UTSW	2	86,966,005 (GRCm39)	missense	probably benign	0.00
R4461:Or5aq1	UTSW	2	86,966,005 (GRCm39)	missense	probably benign	0.00
R4780:Or5aq1	UTSW	2	86,966,221 (GRCm39)	missense	probably damaging	0.99
R5105:Or5aq1	UTSW	2	86,966,554 (GRCm39)	missense	probably benign	0.01
R5995:Or5aq1	UTSW	2	86,966,200 (GRCm39)	missense	probably damaging	1.00
R8177:Or5aq1	UTSW	2	86,966,294 (GRCm39)	missense	possibly damaging	0.92
R9745:Or5aq1	UTSW	2	86,965,783 (GRCm39)	missense	probably damaging	1.00
Z1177:Or5aq1	UTSW	2	86,966,641 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGAGCAGCATCTTTGGAGC -3'
(R):5'- GAACACAAATTGACTATGGCTGAG -3'

Sequencing Primer
(F):5'- CAGCATCTTTGGAGCAATGATAG -3'
(R):5'- ACAAATTGACTATGGCTGAGGTTGC -3'

Posted On

2022-04-18