Mutagenetix > Incidental Mutation

Incidental Mutation 'R8276:Or11h23'

637992

Institutional Source

Beutler Lab

Gene Symbol

Or11h23

Ensembl Gene

ENSMUSG00000060084

Gene Name

olfactory receptor family 11 subfamily G member 23

Synonyms

GA_x6K02T2PMLR-6454789-6455712, Olfr748, MOR106-9P

MMRRC Submission

067699-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R8276 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50947789-50948712 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50948287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 167 (S167T)

Ref Sequence

ENSEMBL: ENSMUSP00000073251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073561]

AlphaFold

E9Q9Z0

Predicted Effect

probably benign
Transcript: ENSMUST00000073561
AA Change: S167T

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000073251
Gene: ENSMUSG00000060084
AA Change: S167T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.6e-52	PFAM
Pfam:7tm_1	41	290	2.8e-24	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

98% (44/45)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,385,885 (GRCm39)	R27W	probably damaging	Het
Acbd5	A	G	2: 22,959,563 (GRCm39)	D39G	probably benign	Het
Amdhd2	C	G	17: 24,382,574 (GRCm39)	R22P	probably damaging	Het
Ankmy1	T	C	1: 92,814,531 (GRCm39)	I325M	probably benign	Het
Cyld	A	G	8: 89,461,556 (GRCm39)	I664M	probably benign	Het
Dnajc10	T	C	2: 80,179,614 (GRCm39)	M716T	probably benign	Het
Dock10	T	A	1: 80,505,998 (GRCm39)	T1743S	probably benign	Het
Dop1a	T	C	9: 86,399,092 (GRCm39)	S947P	probably benign	Het
Ep300	C	G	15: 81,534,229 (GRCm39)	N2095K	possibly damaging	Het
Evi2a	T	A	11: 79,418,316 (GRCm39)	N98I	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Far2	G	T	6: 148,075,399 (GRCm39)	V420L	probably benign	Het
Gng5	A	G	3: 146,206,258 (GRCm39)		probably benign	Het
Heatr5b	G	A	17: 79,098,968 (GRCm39)	R1311*	probably null	Het
Hhipl2	A	T	1: 183,217,328 (GRCm39)	K478M	possibly damaging	Het
Hs3st1	A	T	5: 39,772,146 (GRCm39)	Y166N	probably damaging	Het
Jcad	T	A	18: 4,674,318 (GRCm39)	S693R	probably damaging	Het
Kcnmb3	A	G	3: 32,536,572 (GRCm39)	L52P	probably damaging	Het
Mib1	T	C	18: 10,751,880 (GRCm39)	I254T	possibly damaging	Het
Myo18b	T	C	5: 112,943,273 (GRCm39)	K1644R	possibly damaging	Het
Nherf2	G	T	17: 24,861,234 (GRCm39)	Y175*	probably null	Het
Nlrp2	G	A	7: 5,320,494 (GRCm39)	T881M	probably benign	Het
Or52h9	A	T	7: 104,202,522 (GRCm39)	Y132F	probably damaging	Het
Pkd1l3	A	C	8: 110,397,353 (GRCm39)	*2152C	probably null	Het
Polr2a	G	A	11: 69,638,882 (GRCm39)	R51C	probably damaging	Het
Ptpru	C	T	4: 131,506,484 (GRCm39)	G1026D	probably damaging	Het
Rbm46	A	G	3: 82,771,895 (GRCm39)	V240A	probably damaging	Het
Rrm1	G	A	7: 102,110,059 (GRCm39)		probably null	Het
Ryr3	T	C	2: 112,470,962 (GRCm39)	D4637G	probably damaging	Het
Selenos	G	A	7: 65,729,552 (GRCm39)		probably benign	Het
Serpina1e	G	T	12: 103,913,428 (GRCm39)	T364K	probably damaging	Het
Shroom3	A	T	5: 93,088,339 (GRCm39)	Q363L	probably damaging	Het
Slc9b1	A	C	3: 135,077,658 (GRCm39)	E139D	possibly damaging	Het
Tjp1	A	T	7: 64,993,544 (GRCm39)		probably benign	Het
Tmcc3	A	T	10: 94,418,170 (GRCm39)	T344S	probably damaging	Het
Tnrc6b	T	A	15: 80,764,918 (GRCm39)	S807T	probably benign	Het
Trav7-6	A	T	14: 53,954,695 (GRCm39)	H95L	probably benign	Het
Trmu	T	A	15: 85,766,932 (GRCm39)	V47D	possibly damaging	Het
Uba6	C	A	5: 86,290,509 (GRCm39)		probably benign	Het
Unc79	A	G	12: 102,968,122 (GRCm39)	D116G	possibly damaging	Het
Vmn2r93	G	A	17: 18,525,649 (GRCm39)		probably null	Het
Zfp541	A	T	7: 15,813,009 (GRCm39)	H554L	possibly damaging	Het
Zfp618	A	G	4: 63,051,193 (GRCm39)	H658R	probably damaging	Het
Zmym1	A	T	4: 126,948,051 (GRCm39)	Y107N	probably damaging	Het

Other mutations in Or11h23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01368:Or11h23	APN	14	50,948,450 (GRCm39)	missense	possibly damaging	0.95
IGL02965:Or11h23	APN	14	50,948,653 (GRCm39)	missense	probably damaging	1.00
R0576:Or11h23	UTSW	14	50,948,661 (GRCm39)	missense	probably damaging	0.98
R1184:Or11h23	UTSW	14	50,948,071 (GRCm39)	missense	probably benign	0.01
R2129:Or11h23	UTSW	14	50,948,093 (GRCm39)	missense	probably damaging	0.99
R2895:Or11h23	UTSW	14	50,947,973 (GRCm39)	missense	probably damaging	0.99
R2896:Or11h23	UTSW	14	50,947,973 (GRCm39)	missense	probably damaging	0.99
R4017:Or11h23	UTSW	14	50,948,333 (GRCm39)	missense	probably benign	0.03
R5053:Or11h23	UTSW	14	50,947,968 (GRCm39)	nonsense	probably null
R5057:Or11h23	UTSW	14	50,948,669 (GRCm39)	missense	probably damaging	1.00
R5113:Or11h23	UTSW	14	50,948,371 (GRCm39)	missense	probably benign	0.00
R5294:Or11h23	UTSW	14	50,948,236 (GRCm39)	missense	probably benign	0.01
R5294:Or11h23	UTSW	14	50,947,900 (GRCm39)	missense	possibly damaging	0.95
R5499:Or11h23	UTSW	14	50,948,324 (GRCm39)	missense	probably damaging	1.00
R5582:Or11h23	UTSW	14	50,948,425 (GRCm39)	missense	probably damaging	1.00
R5727:Or11h23	UTSW	14	50,947,817 (GRCm39)	missense	possibly damaging	0.74
R6797:Or11h23	UTSW	14	50,948,563 (GRCm39)	missense	probably damaging	1.00
R7685:Or11h23	UTSW	14	50,948,215 (GRCm39)	missense	possibly damaging	0.95
R7717:Or11h23	UTSW	14	50,948,219 (GRCm39)	missense	probably damaging	1.00
R7778:Or11h23	UTSW	14	50,947,928 (GRCm39)	missense	possibly damaging	0.60
R8839:Or11h23	UTSW	14	50,947,957 (GRCm39)	missense	possibly damaging	0.73
R9322:Or11h23	UTSW	14	50,948,507 (GRCm39)	missense	probably damaging	1.00
R9358:Or11h23	UTSW	14	50,947,802 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGCACAACTGAATGCTTCTTC -3'
(R):5'- CAGGTTGAGAAGGCCTTTTGTC -3'

Sequencing Primer
(F):5'- ACAACTGAATGCTTCTTCCTCTGTG -3'
(R):5'- TGTCGTCCATCTGAAGAAGAAACCTG -3'

Posted On

2020-07-28