Mutagenetix > Incidental Mutation

Incidental Mutation 'R1355:Or5b112'

156308

Institutional Source

Beutler Lab

Gene Symbol

Or5b112

Ensembl Gene

ENSMUSG00000096485

Gene Name

olfactory receptor family 5 subfamily B member 112

Synonyms

GA_x6K02T2RE5P-3672907-3673839, Olfr1466, MOR202-12

MMRRC Submission

039420-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R1355 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13319124-13321692 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 13319882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 253 (Y253*)

Ref Sequence

ENSEMBL: ENSMUSP00000147188 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075868] [ENSMUST00000207124]

AlphaFold

Q8VFW4

Predicted Effect

probably null
Transcript: ENSMUST00000075868
AA Change: Y253*

SMART Domains

Protein: ENSMUSP00000075265
Gene: ENSMUSG00000096485
AA Change: Y253*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	310	4.1e-49	PFAM
Pfam:7TM_GPCR_Srsx	36	306	1.9e-6	PFAM
Pfam:7tm_1	42	291	7e-19	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000207124
AA Change: Y253*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.4%

Validation Efficiency

100% (57/57)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Ankrd52	A	G	10: 128,224,565 (GRCm39)	D781G	possibly damaging	Het
Arhgef5	T	A	6: 43,260,846 (GRCm39)	F1424I	probably damaging	Het
Atp10b	G	A	11: 43,042,482 (GRCm39)	W14*	probably null	Het
B4galnt4	T	C	7: 140,645,308 (GRCm39)	V259A	probably damaging	Het
Ccdc141	A	T	2: 76,860,945 (GRCm39)	I944N	probably damaging	Het
Ccdc146	A	T	5: 21,526,240 (GRCm39)	D224E	probably damaging	Het
Ccne1	A	G	7: 37,805,747 (GRCm39)	I43T	possibly damaging	Het
Cd226	T	A	18: 89,265,147 (GRCm39)	S29T	probably benign	Het
Cebpz	G	T	17: 79,242,753 (GRCm39)	D300E	probably benign	Het
Cryzl1	A	G	16: 91,489,546 (GRCm39)	V266A	possibly damaging	Het
Cyp2c68	A	G	19: 39,729,400 (GRCm39)	L29P	probably damaging	Het
Dennd3	A	C	15: 73,412,703 (GRCm39)		probably benign	Het
Dpy19l4	C	T	4: 11,303,371 (GRCm39)	W183*	probably null	Het
Eml6	T	G	11: 29,783,085 (GRCm39)	S599R	probably benign	Het
Erc1	A	T	6: 119,720,381 (GRCm39)	L440*	probably null	Het
Frem3	A	G	8: 81,417,331 (GRCm39)	Y2012C	probably damaging	Het
Garin5a	A	G	7: 44,146,115 (GRCm39)	K2E	possibly damaging	Het
Gm10288	A	T	3: 146,544,748 (GRCm39)		noncoding transcript	Het
Gm1110	T	A	9: 26,795,057 (GRCm39)	K476N	probably benign	Het
Gm11937	A	T	11: 99,500,733 (GRCm39)	S95T	possibly damaging	Het
H2bc13	T	A	13: 21,900,027 (GRCm39)	Q96L	probably damaging	Het
Hs6st1	T	A	1: 36,142,657 (GRCm39)	H197Q	probably damaging	Het
Ism1	A	T	2: 139,573,994 (GRCm39)	I115F	possibly damaging	Het
Itgb8	C	T	12: 119,134,738 (GRCm39)	G443E	probably benign	Het
Kalrn	T	A	16: 33,795,954 (GRCm39)	I1274F	possibly damaging	Het
Lrrcc1	G	T	3: 14,613,174 (GRCm39)	V299L	probably benign	Het
Mettl5	A	T	2: 69,711,764 (GRCm39)		probably null	Het
Mtcl3	A	T	10: 29,023,318 (GRCm39)	T222S	probably benign	Het
Nlrp2	G	T	7: 5,330,490 (GRCm39)	N635K	possibly damaging	Het
Or4c3d	G	A	2: 89,881,957 (GRCm39)	T237I	probably benign	Het
Or5ac16	A	G	16: 59,022,043 (GRCm39)	S249P	probably damaging	Het
Or8g18	G	C	9: 39,149,547 (GRCm39)	P58A	probably benign	Het
Plxna1	A	G	6: 89,297,748 (GRCm39)		probably benign	Het
Ppp4r1	A	T	17: 66,147,982 (GRCm39)	E924D	probably benign	Het
Prdm2	C	T	4: 142,858,533 (GRCm39)	V1586I	probably benign	Het
Pros1	A	G	16: 62,739,921 (GRCm39)	K457E	probably benign	Het
Rer1	T	A	4: 155,160,081 (GRCm39)	M156L	probably benign	Het
Rgs16	A	T	1: 153,619,414 (GRCm39)	K140M	probably damaging	Het
Rgsl1	A	G	1: 153,683,507 (GRCm39)	M1T	probably null	Het
Setdb2	T	A	14: 59,654,890 (GRCm39)	K333N	probably damaging	Het
Sgo2a	A	G	1: 58,057,124 (GRCm39)	T1103A	possibly damaging	Het
Sik3	C	T	9: 46,107,170 (GRCm39)		probably benign	Het
Slc44a3	C	A	3: 121,325,320 (GRCm39)	G47V	probably damaging	Het
Snrpd1	G	A	18: 10,627,818 (GRCm39)	G103D	probably benign	Het
Sspo	T	A	6: 48,425,560 (GRCm39)	S60R	probably benign	Het
Susd1	C	T	4: 59,424,114 (GRCm39)	C37Y	possibly damaging	Het
Tiam1	A	T	16: 89,695,109 (GRCm39)	I116N	probably benign	Het
Ttc3	A	G	16: 94,219,496 (GRCm39)	S492G	possibly damaging	Het
Uckl1	G	T	2: 181,215,169 (GRCm39)	T213K	probably damaging	Het
Usp38	T	C	8: 81,711,662 (GRCm39)	E791G	possibly damaging	Het
Vps13b	C	T	15: 35,422,600 (GRCm39)	R187C	probably damaging	Het
Vwa3a	A	G	7: 120,383,334 (GRCm39)	Y645C	probably damaging	Het
Wasf3	T	C	5: 146,407,018 (GRCm39)		probably benign	Het

Other mutations in Or5b112

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02442:Or5b112	APN	19	13,319,484 (GRCm39)	missense	probably benign	0.13
IGL02568:Or5b112	APN	19	13,319,583 (GRCm39)	missense	probably benign	0.08
IGL03073:Or5b112	APN	19	13,319,386 (GRCm39)	missense	probably benign	0.00
R0943:Or5b112	UTSW	19	13,319,157 (GRCm39)	missense	probably benign	0.00
R1301:Or5b112	UTSW	19	13,319,211 (GRCm39)	missense	probably benign	0.05
R1524:Or5b112	UTSW	19	13,319,486 (GRCm39)	nonsense	probably null
R1568:Or5b112	UTSW	19	13,319,539 (GRCm39)	missense	probably benign	0.14
R1993:Or5b112	UTSW	19	13,319,178 (GRCm39)	missense	possibly damaging	0.65
R2031:Or5b112	UTSW	19	13,319,770 (GRCm39)	missense	probably benign	0.18
R3693:Or5b112	UTSW	19	13,319,893 (GRCm39)	missense	possibly damaging	0.73
R3694:Or5b112	UTSW	19	13,319,893 (GRCm39)	missense	possibly damaging	0.73
R3853:Or5b112	UTSW	19	13,319,862 (GRCm39)	missense	possibly damaging	0.55
R5313:Or5b112	UTSW	19	13,319,429 (GRCm39)	missense	probably benign	0.07
R5467:Or5b112	UTSW	19	13,319,521 (GRCm39)	missense	probably damaging	1.00
R6060:Or5b112	UTSW	19	13,319,497 (GRCm39)	missense	probably benign	0.08
R7125:Or5b112	UTSW	19	13,319,103 (GRCm39)	critical splice acceptor site	probably null
R7591:Or5b112	UTSW	19	13,319,619 (GRCm39)	missense	probably benign	0.28
R9072:Or5b112	UTSW	19	13,319,238 (GRCm39)	missense	possibly damaging	0.80
R9073:Or5b112	UTSW	19	13,319,238 (GRCm39)	missense	possibly damaging	0.80
R9523:Or5b112	UTSW	19	13,319,848 (GRCm39)	missense	probably damaging	0.99
Z1177:Or5b112	UTSW	19	13,319,619 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- TGCCAGCAATCATGGCTCTCTC -3'
(R):5'- TGTTCCTTCATGTCCAGGCCAAAATG -3'

Sequencing Primer
(F):5'- GGCTCTCTCTTGCTCTGATAGAC -3'
(R):5'- GTCCAGGCCAAAATGATATTCATAGG -3'

Posted On

2014-02-11