Mutagenetix > Incidental Mutation

Incidental Mutation 'R4666:Or5ac23'

351976

Institutional Source

Beutler Lab

Gene Symbol

Or5ac23

Ensembl Gene

ENSMUSG00000094422

Gene Name

olfactory receptor family 5 subfamily AC member 23

Synonyms

Olfr205, MOR182-11P, GA_x54KRFPKG5P-55543875-55542958

MMRRC Submission

041924-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R4666 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59148953-59149870 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59149573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 100 (Y100H)

Ref Sequence

ENSEMBL: ENSMUSP00000149415 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074125] [ENSMUST00000213910]

AlphaFold

Q7TS37

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074125
AA Change: Y100H

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000073762
Gene: ENSMUSG00000094422
AA Change: Y100H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	305	1.6e-49	PFAM
Pfam:7TM_GPCR_Srsx	34	302	1.6e-7	PFAM
Pfam:7tm_1	40	289	7.8e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213910
AA Change: Y100H

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	G	A	17: 37,289,794 (GRCm39)	S12L	probably benign	Het
Abce1	A	G	8: 80,414,115 (GRCm39)	V532A	probably damaging	Het
Adamts12	T	A	15: 11,311,578 (GRCm39)	N1278K	probably benign	Het
Adipor1	T	A	1: 134,352,643 (GRCm39)	I138N	probably damaging	Het
Aox1	C	T	1: 58,343,756 (GRCm39)	Q480*	probably null	Het
Arhgef38	C	T	3: 132,846,533 (GRCm39)		probably null	Het
Atmin	A	G	8: 117,684,698 (GRCm39)	D786G	probably damaging	Het
Bltp3a	G	T	17: 28,112,477 (GRCm39)	W1222L	possibly damaging	Het
Capn1	A	T	19: 6,061,045 (GRCm39)	N253K	probably benign	Het
Cdh8	T	C	8: 99,751,534 (GRCm39)	T728A	possibly damaging	Het
Celsr1	A	G	15: 85,914,695 (GRCm39)	S1093P	probably damaging	Het
Cep135	C	A	5: 76,764,701 (GRCm39)	P560T	probably benign	Het
Chfr	C	T	5: 110,292,733 (GRCm39)	Q167*	probably null	Het
Chrna4	A	G	2: 180,679,286 (GRCm39)	S54P	probably damaging	Het
Cntln	A	G	4: 84,889,453 (GRCm39)	N312S	probably benign	Het
Cntn6	A	G	6: 104,705,245 (GRCm39)	E154G	probably benign	Het
Col6a6	T	A	9: 105,644,541 (GRCm39)	Y1249F	possibly damaging	Het
Cpsf2	T	C	12: 101,949,466 (GRCm39)	S61P	probably damaging	Het
Cpvl	C	T	6: 53,908,918 (GRCm39)	E282K	probably benign	Het
Cryba2	C	T	1: 74,929,207 (GRCm39)	D179N	probably benign	Het
Daglb	A	T	5: 143,489,104 (GRCm39)	R654W	probably damaging	Het
Dennd3	A	G	15: 73,442,709 (GRCm39)	D1244G	probably damaging	Het
Dhx57	T	C	17: 80,582,390 (GRCm39)	E405G	probably damaging	Het
Dnah10	T	C	5: 124,905,536 (GRCm39)	M4060T	possibly damaging	Het
Dph1	A	G	11: 75,072,156 (GRCm39)	S238P	probably damaging	Het
Duox1	C	T	2: 122,149,956 (GRCm39)	P116S	probably benign	Het
Ebf1	A	G	11: 44,882,384 (GRCm39)	N447D	probably damaging	Het
Epg5	A	G	18: 78,056,079 (GRCm39)	N1751S	probably benign	Het
Exoc6	A	G	19: 37,558,953 (GRCm39)	D75G	probably damaging	Het
Extl2	T	A	3: 115,817,856 (GRCm39)	I70N	probably damaging	Het
Fanca	T	C	8: 123,995,711 (GRCm39)	T1364A	probably damaging	Het
Fbln7	T	A	2: 128,736,830 (GRCm39)		probably null	Het
Foxa3	G	T	7: 18,748,297 (GRCm39)	C275*	probably null	Het
Foxred1	C	T	9: 35,122,151 (GRCm39)		probably benign	Het
Galr2	A	G	11: 116,174,455 (GRCm39)	T362A	probably benign	Het
Garem2	C	A	5: 30,319,665 (GRCm39)	R376S	probably damaging	Het
Garre1	T	C	7: 33,984,198 (GRCm39)	M142V	probably damaging	Het
Gatc	T	A	5: 115,473,606 (GRCm39)	N111I	probably benign	Het
Gjb4	C	A	4: 127,245,571 (GRCm39)	K123N	probably damaging	Het
Gm9894	T	C	13: 67,913,213 (GRCm39)		noncoding transcript	Het
Gtdc1	T	C	2: 44,481,937 (GRCm39)	N301S	probably benign	Het
Gtf2ird1	T	A	5: 134,412,756 (GRCm39)	E55V	probably damaging	Het
Gtsf1	T	C	15: 103,329,632 (GRCm39)	I96V	probably benign	Het
Homer1	T	A	13: 93,538,667 (GRCm39)	I170N	probably damaging	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Hoxb9	A	G	11: 96,165,657 (GRCm39)	K242R	possibly damaging	Het
Ifna14	T	C	4: 88,489,573 (GRCm39)	R155G	probably benign	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,024,045 (GRCm39)		probably benign	Het
Lsm11	A	G	11: 45,824,640 (GRCm39)	S296P	probably damaging	Het
Macrod2	T	C	2: 142,059,519 (GRCm39)	L265P	probably damaging	Het
Mcu	G	A	10: 59,292,521 (GRCm39)	L53F	probably damaging	Het
Mpv17l2	A	G	8: 71,213,061 (GRCm39)	V104A	possibly damaging	Het
Myh10	G	A	11: 68,692,556 (GRCm39)		probably null	Het
Nemf	T	C	12: 69,359,054 (GRCm39)	E1031G	probably damaging	Het
Nhsl1	G	A	10: 18,407,153 (GRCm39)	S1395N	probably damaging	Het
Niban3	G	T	8: 72,056,469 (GRCm39)	E390*	probably null	Het
Nlrp2	T	A	7: 5,322,188 (GRCm39)	I82F	probably benign	Het
Nlrp4e	T	A	7: 23,036,205 (GRCm39)	L686*	probably null	Het
Nudt12os	T	A	17: 59,331,546 (GRCm39)		noncoding transcript	Het
Or10ag57	T	A	2: 87,218,220 (GRCm39)	I57K	probably damaging	Het
Or10j5	G	A	1: 172,785,157 (GRCm39)	S265N	probably benign	Het
Or2h1b	A	T	17: 37,462,270 (GRCm39)	S44T	possibly damaging	Het
Or5k16	T	C	16: 58,736,947 (GRCm39)	D19G	probably benign	Het
Or8g27	T	A	9: 39,129,142 (GRCm39)	M163K	probably damaging	Het
Pde7a	T	C	3: 19,314,420 (GRCm39)	T59A	probably damaging	Het
Pde7b	A	C	10: 20,314,496 (GRCm39)	D203E	probably damaging	Het
Phkg2	T	A	7: 127,177,156 (GRCm39)	I94N	possibly damaging	Het
Pik3r2	G	A	8: 71,221,503 (GRCm39)	T667I	possibly damaging	Het
Pitx3	T	A	19: 46,125,540 (GRCm39)	H68L	possibly damaging	Het
Prcd	A	G	11: 116,558,990 (GRCm39)		probably benign	Het
Prune2	C	T	19: 17,097,552 (GRCm39)	R1019*	probably null	Het
Psap	A	G	10: 60,136,324 (GRCm39)	D486G	probably benign	Het
Purb	A	T	11: 6,425,615 (GRCm39)	V91E	probably damaging	Het
Recql	C	A	6: 142,322,567 (GRCm39)	V112F	probably damaging	Het
Rptor	A	T	11: 119,634,708 (GRCm39)	I175F	probably damaging	Het
Sbf1	C	T	15: 89,179,449 (GRCm39)	V1385M	probably damaging	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Slc35f6	T	C	5: 30,812,957 (GRCm39)	L37P	probably damaging	Het
Slc6a3	T	A	13: 73,686,700 (GRCm39)	N22K	possibly damaging	Het
Sorl1	A	T	9: 41,915,347 (GRCm39)	M1294K	probably damaging	Het
Sp6	C	A	11: 96,912,701 (GRCm39)	A138E	probably benign	Het
Spag8	G	T	4: 43,653,408 (GRCm39)		probably benign	Het
Spmip4	G	T	6: 50,572,808 (GRCm39)	T35K	possibly damaging	Het
Spon1	T	A	7: 113,628,204 (GRCm39)	M320K	probably benign	Het
Tceanc2	A	T	4: 107,022,757 (GRCm39)	S77T	probably damaging	Het
Thsd7a	T	A	6: 12,337,313 (GRCm39)	T1235S	possibly damaging	Het
Thsd7a	T	A	6: 12,504,012 (GRCm39)	I381F	possibly damaging	Het
Tmc4	T	C	7: 3,674,270 (GRCm39)		probably null	Het
Tmprss11d	T	C	5: 86,457,260 (GRCm39)	D133G	probably damaging	Het
Trav13n-3	T	A	14: 53,574,953 (GRCm39)	V65D	probably damaging	Het
Trpm1	G	T	7: 63,852,782 (GRCm39)	L65F	probably damaging	Het
Tyk2	C	T	9: 21,025,503 (GRCm39)	A741T	probably damaging	Het
Ube2v1	T	A	2: 167,452,297 (GRCm39)	Y102F	probably damaging	Het
Uckl1	A	T	2: 181,216,661 (GRCm39)	S95T	possibly damaging	Het
Vcan	C	A	13: 89,828,053 (GRCm39)	W2171L	probably damaging	Het
Vinac1	T	C	2: 128,880,150 (GRCm39)	H592R	probably benign	Het
Vmn1r64	T	C	7: 5,887,357 (GRCm39)	N62S	probably damaging	Het
Vmn2r67	T	C	7: 84,799,831 (GRCm39)	D469G	probably benign	Het
Vps13b	A	G	15: 35,640,690 (GRCm39)	S1352G	probably benign	Het
Zbtb38	C	T	9: 96,570,436 (GRCm39)	R216H	probably damaging	Het

Other mutations in Or5ac23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02475:Or5ac23	APN	16	59,149,088 (GRCm39)	missense	probably benign	0.21
IGL03236:Or5ac23	APN	16	59,149,200 (GRCm39)	missense	probably damaging	0.97
R0054:Or5ac23	UTSW	16	59,149,428 (GRCm39)	missense	possibly damaging	0.57
R0054:Or5ac23	UTSW	16	59,149,428 (GRCm39)	missense	possibly damaging	0.57
R0167:Or5ac23	UTSW	16	59,149,337 (GRCm39)	nonsense	probably null
R0178:Or5ac23	UTSW	16	59,149,783 (GRCm39)	missense	probably damaging	1.00
R0371:Or5ac23	UTSW	16	59,149,585 (GRCm39)	missense	possibly damaging	0.60
R0577:Or5ac23	UTSW	16	59,149,061 (GRCm39)	missense	probably benign	0.01
R0597:Or5ac23	UTSW	16	59,149,123 (GRCm39)	missense	probably damaging	1.00
R0967:Or5ac23	UTSW	16	59,149,546 (GRCm39)	missense	possibly damaging	0.66
R1670:Or5ac23	UTSW	16	59,149,607 (GRCm39)	missense	probably benign	0.03
R1702:Or5ac23	UTSW	16	59,149,504 (GRCm39)	missense	probably benign	0.12
R1995:Or5ac23	UTSW	16	59,149,654 (GRCm39)	missense	probably damaging	1.00
R2239:Or5ac23	UTSW	16	59,149,738 (GRCm39)	missense	probably damaging	0.99
R4063:Or5ac23	UTSW	16	59,149,243 (GRCm39)	missense	probably benign	0.05
R4400:Or5ac23	UTSW	16	59,148,961 (GRCm39)	missense	probably benign
R4795:Or5ac23	UTSW	16	59,149,213 (GRCm39)	missense	probably benign	0.09
R5327:Or5ac23	UTSW	16	59,149,461 (GRCm39)	missense	probably benign	0.01
R5471:Or5ac23	UTSW	16	59,148,994 (GRCm39)	missense	probably damaging	1.00
R5770:Or5ac23	UTSW	16	59,149,514 (GRCm39)	nonsense	probably null
R6195:Or5ac23	UTSW	16	59,149,785 (GRCm39)	missense	possibly damaging	0.81
R6702:Or5ac23	UTSW	16	59,148,961 (GRCm39)	missense	probably benign
R7686:Or5ac23	UTSW	16	59,149,379 (GRCm39)	missense	probably damaging	1.00
R7908:Or5ac23	UTSW	16	59,149,606 (GRCm39)	missense	possibly damaging	0.48
R7911:Or5ac23	UTSW	16	59,149,606 (GRCm39)	missense	possibly damaging	0.48
R7912:Or5ac23	UTSW	16	59,149,606 (GRCm39)	missense	possibly damaging	0.48
R7913:Or5ac23	UTSW	16	59,149,606 (GRCm39)	missense	possibly damaging	0.48
R7998:Or5ac23	UTSW	16	59,149,633 (GRCm39)	missense	probably benign	0.09
R8772:Or5ac23	UTSW	16	59,149,051 (GRCm39)	missense	probably damaging	1.00
R9563:Or5ac23	UTSW	16	59,149,765 (GRCm39)	missense	probably benign	0.00
X0026:Or5ac23	UTSW	16	59,149,713 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- GTGTAGAGTGGCAAGATTTCACAG -3'
(R):5'- GCTTGATCTTTCTCATCTGGAAGG -3'

Sequencing Primer
(F):5'- GGCAAGATTTCACAGTAGAAATGATC -3'
(R):5'- TGGAAGGACCCTCATCTTCAC -3'

Posted On

2015-10-08