Mutagenetix > Incidental Mutation

Incidental Mutation 'R5800:Or5b118'

447375

Institutional Source

Beutler Lab

Gene Symbol

Or5b118

Ensembl Gene

ENSMUSG00000096273

Gene Name

olfactory receptor family 5 subfamily B member 118

Synonyms

Olfr1474, MOR202-26P, GA_x6K02T2RE5P-3803583-3804527, MOR202-42

MMRRC Submission

043389-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R5800 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13448336-13449280 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13449260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 309 (S309P)

Ref Sequence

ENSEMBL: ENSMUSP00000151810 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096202] [ENSMUST00000207529] [ENSMUST00000220113]

AlphaFold

Q7TQQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000096202
AA Change: S309P

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000093916
Gene: ENSMUSG00000096273
AA Change: S309P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1.6e-52	PFAM
Pfam:7TM_GPCR_Srsx	33	303	1e-7	PFAM
Pfam:7tm_1	39	288	8.7e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207529

Predicted Effect

probably benign
Transcript: ENSMUST00000220113
AA Change: S309P

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

96% (50/52)

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

none

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,360,591 (GRCm39)	V540D	possibly damaging	Het
Adamts8	A	T	9: 30,865,778 (GRCm39)	D442V	probably damaging	Het
B3galt9	T	C	2: 34,728,654 (GRCm39)	F151S	possibly damaging	Het
Bltp1	A	G	3: 37,106,592 (GRCm39)	D4974G	probably damaging	Het
Casp4	G	A	9: 5,308,915 (GRCm39)		probably null	Het
Cfap45	T	A	1: 172,366,167 (GRCm39)	V30E	probably damaging	Het
Col6a4	A	G	9: 105,957,474 (GRCm39)	F117L	probably damaging	Het
Dnah7c	A	T	1: 46,686,175 (GRCm39)	T1810S	probably benign	Het
Drosha	C	T	15: 12,865,153 (GRCm39)	T627M	probably damaging	Het
Drosha	C	A	15: 12,902,733 (GRCm39)	A1001D	probably damaging	Het
Efhc1	G	A	1: 21,049,005 (GRCm39)	V473I	probably benign	Het
Ephx2	T	C	14: 66,344,751 (GRCm39)	K191R	probably benign	Het
Ero1b	T	A	13: 12,617,190 (GRCm39)		probably null	Het
Esyt2	A	T	12: 116,333,808 (GRCm39)	D837V	possibly damaging	Het
Fip1l1	T	A	5: 74,706,742 (GRCm39)	D126E	possibly damaging	Het
Fyttd1	C	T	16: 32,711,658 (GRCm39)	R86C	probably damaging	Het
Gm12888	T	A	4: 121,176,625 (GRCm39)	T59S	probably damaging	Het
Gm7353	A	T	7: 3,160,168 (GRCm39)		noncoding transcript	Het
Gpr153	C	T	4: 152,364,534 (GRCm39)	Q197*	probably null	Het
Grep1	G	A	17: 23,936,966 (GRCm39)	P72S	probably damaging	Het
H2-T23	G	T	17: 36,342,496 (GRCm39)		probably benign	Het
Ighv1-16	T	A	12: 114,629,531 (GRCm39)	R85S	probably benign	Het
Ipcef1	T	A	10: 6,840,569 (GRCm39)	D376V	probably damaging	Het
Kdm1a	T	A	4: 136,300,381 (GRCm39)		probably null	Het
Klk1b27	A	T	7: 43,705,088 (GRCm39)	Q85L	probably benign	Het
Krt39	A	T	11: 99,411,971 (GRCm39)	D38E	probably benign	Het
L1td1	T	C	4: 98,621,999 (GRCm39)	L187P	possibly damaging	Het
Lrrc8b	C	T	5: 105,629,208 (GRCm39)	S518L	probably benign	Het
Lyg1	C	T	1: 37,986,034 (GRCm39)	D176N	probably damaging	Het
Mctp1	A	G	13: 76,836,678 (GRCm39)	N82D	probably damaging	Het
Muc6	T	C	7: 141,226,690 (GRCm39)		probably benign	Het
Nynrin	T	C	14: 56,108,088 (GRCm39)	L1065P	probably damaging	Het
Pcdh7	T	A	5: 57,879,567 (GRCm39)	S1041T	probably damaging	Het
Pkd1l1	T	A	11: 8,811,302 (GRCm39)	M1518L	probably benign	Het
Prl8a6	G	T	13: 27,619,453 (GRCm39)	Q90K	probably benign	Het
Ptcd1	T	A	5: 145,096,475 (GRCm39)	D206V	probably damaging	Het
Rap1gap	C	A	4: 137,447,688 (GRCm39)	D478E	probably benign	Het
Scn5a	A	G	9: 119,330,732 (GRCm39)	Y1269H	probably damaging	Het
Sdc2	A	T	15: 33,028,290 (GRCm39)	H136L	probably benign	Het
Senp6	A	T	9: 80,033,715 (GRCm39)	I120F	probably damaging	Het
Shisa5	G	A	9: 108,885,162 (GRCm39)		probably null	Het
Slc19a1	A	G	10: 76,878,103 (GRCm39)	S213G	probably null	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261 (GRCm39)		probably benign	Het
Tbc1d20	T	A	2: 152,150,245 (GRCm39)		probably null	Het
Tll2	T	C	19: 41,093,373 (GRCm39)	H481R	probably benign	Het
Tmc7	A	G	7: 118,138,663 (GRCm39)	V692A	probably benign	Het
Tmem234	T	C	4: 129,500,924 (GRCm39)		probably null	Het
Vmn1r237	C	G	17: 21,535,069 (GRCm39)	T264S	probably benign	Het
Vmn2r98	A	T	17: 19,286,260 (GRCm39)	T253S	probably benign	Het
Zfyve27	T	C	19: 42,171,102 (GRCm39)	Y191H	probably damaging	Het

Other mutations in Or5b118

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03256:Or5b118	APN	19	13,448,631 (GRCm39)	missense	probably damaging	0.99
D605:Or5b118	UTSW	19	13,448,521 (GRCm39)	nonsense	probably null
R0173:Or5b118	UTSW	19	13,449,065 (GRCm39)	missense	probably benign	0.02
R1102:Or5b118	UTSW	19	13,448,771 (GRCm39)	missense	probably damaging	0.97
R1515:Or5b118	UTSW	19	13,449,044 (GRCm39)	missense	probably damaging	0.97
R1780:Or5b118	UTSW	19	13,448,726 (GRCm39)	missense	probably benign	0.14
R2061:Or5b118	UTSW	19	13,448,605 (GRCm39)	missense	probably damaging	0.98
R4016:Or5b118	UTSW	19	13,448,561 (GRCm39)	missense	possibly damaging	0.95
R4485:Or5b118	UTSW	19	13,448,919 (GRCm39)	missense	probably benign	0.08
R5119:Or5b118	UTSW	19	13,448,910 (GRCm39)	missense	probably benign	0.00
R5150:Or5b118	UTSW	19	13,448,794 (GRCm39)	missense	probably benign	0.01
R5156:Or5b118	UTSW	19	13,449,037 (GRCm39)	missense	probably damaging	1.00
R5699:Or5b118	UTSW	19	13,448,336 (GRCm39)	start codon destroyed	probably null	0.78
R5840:Or5b118	UTSW	19	13,449,242 (GRCm39)	missense	probably benign	0.01
R5953:Or5b118	UTSW	19	13,448,732 (GRCm39)	missense	possibly damaging	0.92
R5997:Or5b118	UTSW	19	13,448,870 (GRCm39)	missense	probably benign	0.12
R6233:Or5b118	UTSW	19	13,449,104 (GRCm39)	missense	probably damaging	1.00
R6488:Or5b118	UTSW	19	13,448,981 (GRCm39)	missense	probably damaging	1.00
R6847:Or5b118	UTSW	19	13,448,402 (GRCm39)	missense	probably benign	0.03
R6964:Or5b118	UTSW	19	13,448,725 (GRCm39)	nonsense	probably null
R7214:Or5b118	UTSW	19	13,448,337 (GRCm39)	start codon destroyed	probably null	1.00
R8001:Or5b118	UTSW	19	13,448,786 (GRCm39)	missense	probably benign	0.03
R8035:Or5b118	UTSW	19	13,449,263 (GRCm39)	missense	probably benign
R8129:Or5b118	UTSW	19	13,448,508 (GRCm39)	missense	probably damaging	1.00
R9018:Or5b118	UTSW	19	13,448,721 (GRCm39)	missense	possibly damaging	0.60
R9061:Or5b118	UTSW	19	13,448,523 (GRCm39)	missense	probably damaging	0.98
R9065:Or5b118	UTSW	19	13,448,670 (GRCm39)	missense	probably damaging	0.97
R9373:Or5b118	UTSW	19	13,449,216 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAGGCCTTCTCTACCTGTG -3'
(R):5'- TGCTTGGGAATTTTGAGCTCTATAATC -3'

Sequencing Primer
(F):5'- GTGCATCTCATCTCATCACTGTG -3'
(R):5'- CATGGCAAAATATACACCAATTTCAC -3'

Posted On

2016-12-15