Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4651001:Or5b111'

556711

Institutional Source

Beutler Lab

Gene Symbol

Or5b111

Ensembl Gene

ENSMUSG00000062199

Gene Name

olfactory receptor family 5 subfamily B member 111

Synonyms

MOR202-28, GA_x6K02T2RE5P-3645346-3644423, Olfr1465

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

PIT4651001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13290724-13291647 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13291556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 31 (I31T)

Ref Sequence

ENSEMBL: ENSMUSP00000146645 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080142] [ENSMUST00000207340]

AlphaFold

Q7TQR2

Predicted Effect

probably benign
Transcript: ENSMUST00000080142
AA Change: I31T

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000079039
Gene: ENSMUSG00000062199
AA Change: I31T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	7.4e-47	PFAM
Pfam:7tm_1	39	288	3.7e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207340
AA Change: I31T

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 93.1%
3x: 90.7%
10x: 84.4%
20x: 70.4%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,408,014 (GRCm39)	I428L	probably benign	Het
Aass	T	C	6: 23,118,750 (GRCm39)	I131V	probably benign	Het
Alcam	T	A	16: 52,115,550 (GRCm39)	K189N	probably benign	Het
Ankrd50	C	A	3: 38,509,959 (GRCm39)	E803*	probably null	Het
Ankrd53	A	G	6: 83,742,715 (GRCm39)	D236G	probably damaging	Het
Bard1	A	G	1: 71,114,087 (GRCm39)	V298A	probably benign	Het
Cacna1d	C	T	14: 29,900,602 (GRCm39)	G361D	probably damaging	Het
Camkk1	A	G	11: 72,916,647 (GRCm39)	S82G	probably benign	Het
Ccr4	A	T	9: 114,321,261 (GRCm39)	V268E	probably benign	Het
Cdh6	G	A	15: 13,044,805 (GRCm39)	S439L	possibly damaging	Het
Ces1e	G	T	8: 93,941,711 (GRCm39)	A254E	probably benign	Het
Cfap46	T	C	7: 139,225,467 (GRCm39)	T1078A		Het
Cyp46a1	A	G	12: 108,319,367 (GRCm39)	D288G	probably benign	Het
Dnah6	T	C	6: 73,037,243 (GRCm39)	N3333S	probably benign	Het
Dzip3	A	G	16: 48,765,241 (GRCm39)	V491A	probably benign	Het
Egr1	G	T	18: 34,996,240 (GRCm39)	E341*	probably null	Het
Enpp1	G	A	10: 24,529,848 (GRCm39)	P597S	probably benign	Het
Ercc3	A	T	18: 32,373,365 (GRCm39)		probably benign	Het
Fbn1	T	C	2: 125,205,909 (GRCm39)		probably null	Het
Fbxw11	T	C	11: 32,661,999 (GRCm39)		probably null	Het
Fhip1a	C	T	3: 85,590,948 (GRCm39)	A389T	probably damaging	Het
Gbf1	A	G	19: 46,151,982 (GRCm39)	N5S	probably benign	Het
Gbp4	T	A	5: 105,266,289 (GRCm39)	H584L	probably benign	Het
Gcgr	G	T	11: 120,428,968 (GRCm39)	C402F	probably damaging	Het
Grm7	T	A	6: 110,623,050 (GRCm39)	N74K	probably benign	Het
H1f9	A	G	11: 94,859,142 (GRCm39)	S146G	probably benign	Het
Hoxa10	T	G	6: 52,211,877 (GRCm39)	N13T	possibly damaging	Het
Ice1	A	T	13: 70,772,040 (GRCm39)		probably null	Het
Il22	C	A	10: 118,041,495 (GRCm39)	N69K	probably damaging	Het
Il9r	A	T	11: 32,141,798 (GRCm39)	H319Q	probably benign	Het
Itgax	A	G	7: 127,748,282 (GRCm39)	T1104A	probably benign	Het
Jag1	C	T	2: 136,943,617 (GRCm39)	G193D	probably damaging	Het
Krt13	T	A	11: 100,010,862 (GRCm39)	D164V	probably damaging	Het
Lepr	T	C	4: 101,649,194 (GRCm39)	M865T	probably damaging	Het
Lmf2	G	A	15: 89,236,272 (GRCm39)	H576Y	possibly damaging	Het
Lrrc8c	C	T	5: 105,756,189 (GRCm39)	H655Y	probably benign	Het
Mapk6	A	T	9: 75,304,869 (GRCm39)	S183T	possibly damaging	Het
Mcrs1	A	T	15: 99,144,832 (GRCm39)	Y261N	probably damaging	Het
Mon1b	G	A	8: 114,365,254 (GRCm39)	G194D	probably benign	Het
Myo18b	C	T	5: 112,982,301 (GRCm39)	R1144Q	probably benign	Het
Myo9b	T	A	8: 71,795,456 (GRCm39)	H808Q	possibly damaging	Het
Ngdn	T	C	14: 55,253,657 (GRCm39)	I15T	probably benign	Het
Nhsl1	T	G	10: 18,284,183 (GRCm39)	S41R	probably damaging	Het
Numa1	A	T	7: 101,663,141 (GRCm39)	K2089M	probably damaging	Het
Obi1	T	A	14: 104,743,692 (GRCm39)	D129V	probably damaging	Het
Obscn	A	G	11: 58,932,507 (GRCm39)	L4900P	probably damaging	Het
Olfm4	T	A	14: 80,258,925 (GRCm39)	L391Q	probably benign	Het
Or10g9b	A	T	9: 39,917,526 (GRCm39)	C240S	probably damaging	Het
Or2ag1	A	G	7: 106,472,730 (GRCm39)	C241R	probably damaging	Het
Or5b106	T	A	19: 13,123,991 (GRCm39)	I11F	probably benign	Het
Or5m9	T	C	2: 85,876,862 (GRCm39)	L12P	probably damaging	Het
Parn	T	A	16: 13,449,431 (GRCm39)	N302Y	probably benign	Het
Pi4k2b	T	G	5: 52,905,812 (GRCm39)	S118A	possibly damaging	Het
Piwil4	C	T	9: 14,620,195 (GRCm39)	V704I	possibly damaging	Het
Pm20d2	G	A	4: 33,181,715 (GRCm39)	T296M	probably damaging	Het
Pmpcb	C	T	5: 21,951,048 (GRCm39)	A270V	probably benign	Het
Pnpt1	T	C	11: 29,106,945 (GRCm39)		probably null	Het
Prkn	T	A	17: 11,286,130 (GRCm39)	L41Q	probably damaging	Het
Rc3h1	C	A	1: 160,791,110 (GRCm39)	N931K	probably benign	Het
Rlf	A	G	4: 121,007,510 (GRCm39)	V600A	probably damaging	Het
Rpl27rt	A	T	18: 34,870,892 (GRCm39)	Q142L	unknown	Het
Sall1	T	G	8: 89,757,731 (GRCm39)	Q791P	probably damaging	Het
Sema3c	T	A	5: 17,899,731 (GRCm39)	Y408N	probably benign	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Tmem181a	A	T	17: 6,351,170 (GRCm39)	M319L	probably benign	Het
Trim24	T	C	6: 37,877,667 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,719,278 (GRCm39)	T7234S	unknown	Het
Unc13c	T	A	9: 73,391,021 (GRCm39)	M2076L	possibly damaging	Het
Uroc1	C	T	6: 90,340,095 (GRCm39)	R667*	probably null	Het
Uvrag	A	G	7: 98,555,727 (GRCm39)	F456L	probably benign	Het
Vmn1r215	T	C	13: 23,260,530 (GRCm39)	V190A	probably damaging	Het
Vmn2r50	T	A	7: 9,771,659 (GRCm39)	T681S	probably benign	Het
Vmn2r65	T	A	7: 84,595,461 (GRCm39)	T408S	probably benign	Het
Vps33b	A	G	7: 79,939,755 (GRCm39)	D502G	probably damaging	Het

Other mutations in Or5b111

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01296:Or5b111	APN	19	13,291,490 (GRCm39)	missense	probably damaging	1.00
IGL01548:Or5b111	APN	19	13,291,350 (GRCm39)	missense	possibly damaging	0.95
IGL02548:Or5b111	APN	19	13,291,302 (GRCm39)	missense	probably damaging	0.98
IGL02663:Or5b111	APN	19	13,290,743 (GRCm39)	missense	probably benign	0.01
BB010:Or5b111	UTSW	19	13,291,569 (GRCm39)	missense	probably benign
BB020:Or5b111	UTSW	19	13,291,569 (GRCm39)	missense	probably benign
R0563:Or5b111	UTSW	19	13,291,112 (GRCm39)	missense	probably benign	0.28
R1803:Or5b111	UTSW	19	13,291,535 (GRCm39)	missense	possibly damaging	0.90
R2146:Or5b111	UTSW	19	13,291,485 (GRCm39)	missense	probably benign	0.23
R4674:Or5b111	UTSW	19	13,291,178 (GRCm39)	missense	probably benign	0.17
R4697:Or5b111	UTSW	19	13,291,081 (GRCm39)	missense	probably benign	0.39
R4825:Or5b111	UTSW	19	13,291,684 (GRCm39)	splice site	probably null
R4884:Or5b111	UTSW	19	13,291,034 (GRCm39)	missense	probably benign	0.28
R5647:Or5b111	UTSW	19	13,291,553 (GRCm39)	missense	probably damaging	1.00
R6401:Or5b111	UTSW	19	13,290,878 (GRCm39)	missense	probably damaging	1.00
R6913:Or5b111	UTSW	19	13,290,998 (GRCm39)	missense	probably benign	0.01
R6996:Or5b111	UTSW	19	13,291,036 (GRCm39)	missense	probably benign	0.15
R7933:Or5b111	UTSW	19	13,291,569 (GRCm39)	missense	probably benign
R8946:Or5b111	UTSW	19	13,291,502 (GRCm39)	missense	probably damaging	0.97
R8966:Or5b111	UTSW	19	13,291,196 (GRCm39)	missense	probably damaging	1.00
R9641:Or5b111	UTSW	19	13,291,100 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CACCCATTATAGGATATGACCTTGTC -3'
(R):5'- TTGCTCAACCAAGTCATATGTTTGC -3'

Sequencing Primer
(F):5'- AGGATATGACCTTGTCTCCTTTTAG -3'
(R):5'- TGTAACAGTGATGGAGAACA -3'

Posted On

2019-06-07