Mutagenetix > Incidental Mutation

Incidental Mutation 'R2225:Or2l5'

239698

Institutional Source

Beutler Lab

Gene Symbol

Or2l5

Ensembl Gene

ENSMUSG00000045341

Gene Name

olfactory receptor family 2 subfamily L member 5

Synonyms

MOR272-1, GA_x54KRFPKG5P-15963726-15962788, Olfr167

MMRRC Submission

040226-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

R2225 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19333446-19334384 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19333996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 130 (H130R)

Ref Sequence

ENSEMBL: ENSMUSP00000150102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054606] [ENSMUST00000214315]

AlphaFold

Q8VGJ5

Predicted Effect

probably benign
Transcript: ENSMUST00000054606
AA Change: H130R

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000055344
Gene: ENSMUSG00000045341
AA Change: H130R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	306	4.8e-46	PFAM
Pfam:7TM_GPCR_Srsx	33	295	1.2e-6	PFAM
Pfam:7tm_1	40	289	1.8e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214315
AA Change: H130R

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217566

Meta Mutation Damage Score

0.1493

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (56/56)

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
Abtb1	A	C	6: 88,813,349 (GRCm39)	L439R	probably damaging	Het
Adcy10	A	G	1: 165,345,829 (GRCm39)	T293A	probably damaging	Het
Aen	C	A	7: 78,552,199 (GRCm39)	T15K	probably benign	Het
Aggf1	A	G	13: 95,507,354 (GRCm39)	S144P	probably damaging	Het
Akap9	A	T	5: 4,127,271 (GRCm39)	R3706S	probably damaging	Het
Btd	A	G	14: 31,389,017 (GRCm39)	D246G	probably benign	Het
Ccdc33	A	G	9: 57,989,305 (GRCm39)	S123P	probably damaging	Het
Cep152	T	C	2: 125,423,704 (GRCm39)	E899G	probably damaging	Het
Cpsf6	A	T	10: 117,198,941 (GRCm39)		probably benign	Het
Crybg3	A	G	16: 59,375,041 (GRCm39)	I2071T	probably damaging	Het
Cwc22	T	A	2: 77,738,495 (GRCm39)		probably benign	Het
Ddah2	T	A	17: 35,279,187 (GRCm39)	I16N	probably damaging	Het
Dld	T	G	12: 31,391,448 (GRCm39)	M123L	probably benign	Het
Eif5b	A	T	1: 38,058,304 (GRCm39)	K202I	unknown	Het
Gm6430	T	C	1: 96,953,441 (GRCm39)		noncoding transcript	Het
Hdac9	C	T	12: 34,457,801 (GRCm39)	V251I	probably benign	Het
Hoxa10	T	C	6: 52,209,616 (GRCm39)	E52G	probably damaging	Het
Hspa4	C	T	11: 53,177,760 (GRCm39)	V117M	probably benign	Het
Htra4	T	C	8: 25,515,736 (GRCm39)	D434G	probably benign	Het
Itgb3	A	G	11: 104,556,336 (GRCm39)	M726V	probably benign	Het
Itih1	A	G	14: 30,651,534 (GRCm39)	V886A	possibly damaging	Het
Kdm1b	TCATTGTCC	TCATTGTCCATTGTCC	13: 47,217,564 (GRCm39)		probably null	Het
Kpna1	G	A	16: 35,851,591 (GRCm39)	A392T	probably damaging	Het
Limk1	G	T	5: 134,690,410 (GRCm39)		probably null	Het
Lonrf1	T	C	8: 36,703,252 (GRCm39)	D308G	probably damaging	Het
Muc4	A	T	16: 32,576,265 (GRCm39)		probably benign	Het
Muc4	G	A	16: 32,587,316 (GRCm39)	C2719Y	possibly damaging	Het
Mvb12b	G	A	2: 33,730,211 (GRCm39)	T60I	possibly damaging	Het
Myh2	C	T	11: 67,084,555 (GRCm39)	T1698M	probably benign	Het
Naalad2	A	T	9: 18,287,829 (GRCm39)	V267E	possibly damaging	Het
Nkpd1	A	T	7: 19,253,745 (GRCm39)	Y37F	probably benign	Het
Or10d5	T	C	9: 39,861,833 (GRCm39)	K78R	possibly damaging	Het
Or8g33	T	C	9: 39,337,915 (GRCm39)	I151V	probably benign	Het
Plekhg2	G	A	7: 28,059,760 (GRCm39)	P1190S	probably benign	Het
Reck	A	G	4: 43,922,837 (GRCm39)	T371A	probably benign	Het
Rnf185	T	C	11: 3,382,445 (GRCm39)	D44G	probably damaging	Het
Rpgrip1l	T	C	8: 91,948,095 (GRCm39)	E1196G	probably benign	Het
Rundc1	A	G	11: 101,322,170 (GRCm39)		probably benign	Het
Sf3b3	T	C	8: 111,541,205 (GRCm39)	Y970C	probably damaging	Het
Sfxn1	A	G	13: 54,239,536 (GRCm39)	T20A	possibly damaging	Het
Shprh	T	C	10: 11,037,979 (GRCm39)		probably benign	Het
Spata31d1a	T	A	13: 59,851,529 (GRCm39)	I200L	probably benign	Het
Srsf6	G	A	2: 162,773,619 (GRCm39)	S10N	probably damaging	Het
Tbxa2r	A	G	10: 81,168,983 (GRCm39)	Y224C	probably benign	Het
Tlr5	A	G	1: 182,799,941 (GRCm39)		probably benign	Het
Tmem270	A	G	5: 134,935,492 (GRCm39)	L21P	probably damaging	Het
Tmtc2	T	C	10: 105,206,218 (GRCm39)	E359G	probably benign	Het
Tnn	A	T	1: 159,975,035 (GRCm39)	C131S	probably damaging	Het
Tnnt2	A	G	1: 135,771,529 (GRCm39)		probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tph1	A	G	7: 46,314,598 (GRCm39)		probably null	Het
Wiz	C	T	17: 32,575,899 (GRCm39)	V836M	probably damaging	Het
Zfp451	T	A	1: 33,809,988 (GRCm39)		probably benign	Het
Zfp738	A	G	13: 67,818,431 (GRCm39)	F520S	probably damaging	Het

Other mutations in Or2l5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01535:Or2l5	APN	16	19,334,228 (GRCm39)	missense	probably benign	0.01
IGL02115:Or2l5	APN	16	19,333,853 (GRCm39)	missense	probably damaging	1.00
IGL02562:Or2l5	APN	16	19,333,714 (GRCm39)	missense	possibly damaging	0.74
BB008:Or2l5	UTSW	16	19,334,258 (GRCm39)	missense	possibly damaging	0.94
BB018:Or2l5	UTSW	16	19,334,258 (GRCm39)	missense	possibly damaging	0.94
R0366:Or2l5	UTSW	16	19,333,598 (GRCm39)	missense	probably benign	0.13
R0673:Or2l5	UTSW	16	19,334,146 (GRCm39)	missense	probably damaging	1.00
R1187:Or2l5	UTSW	16	19,333,796 (GRCm39)	missense	probably benign	0.01
R1237:Or2l5	UTSW	16	19,334,375 (GRCm39)	missense	probably benign	0.01
R1975:Or2l5	UTSW	16	19,333,586 (GRCm39)	missense	probably damaging	0.99
R1977:Or2l5	UTSW	16	19,333,586 (GRCm39)	missense	probably damaging	0.99
R1997:Or2l5	UTSW	16	19,333,792 (GRCm39)	missense	probably damaging	1.00
R2226:Or2l5	UTSW	16	19,333,996 (GRCm39)	missense	probably benign	0.05
R4078:Or2l5	UTSW	16	19,333,982 (GRCm39)	missense	possibly damaging	0.76
R5019:Or2l5	UTSW	16	19,334,285 (GRCm39)	missense	probably damaging	0.99
R5071:Or2l5	UTSW	16	19,333,777 (GRCm39)	missense	probably benign	0.00
R5278:Or2l5	UTSW	16	19,334,128 (GRCm39)	nonsense	probably null
R5415:Or2l5	UTSW	16	19,333,996 (GRCm39)	missense	possibly damaging	0.94
R5744:Or2l5	UTSW	16	19,334,086 (GRCm39)	missense	probably benign	0.00
R5991:Or2l5	UTSW	16	19,333,507 (GRCm39)	missense	probably damaging	0.99
R6151:Or2l5	UTSW	16	19,334,281 (GRCm39)	missense	probably damaging	1.00
R6540:Or2l5	UTSW	16	19,333,571 (GRCm39)	missense	probably benign
R7014:Or2l5	UTSW	16	19,334,206 (GRCm39)	missense	probably benign	0.20
R7145:Or2l5	UTSW	16	19,333,649 (GRCm39)	missense	probably damaging	0.99
R7535:Or2l5	UTSW	16	19,333,544 (GRCm39)	missense	probably damaging	1.00
R7677:Or2l5	UTSW	16	19,333,678 (GRCm39)	missense	probably benign	0.42
R7715:Or2l5	UTSW	16	19,333,480 (GRCm39)	missense	probably benign	0.00
R7931:Or2l5	UTSW	16	19,334,258 (GRCm39)	missense	possibly damaging	0.94
R8137:Or2l5	UTSW	16	19,333,846 (GRCm39)	missense	possibly damaging	0.89
R8671:Or2l5	UTSW	16	19,333,804 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- CAAGCCAGAGTCAACATGGC -3'
(R):5'- TGGTAACCTGTCCATGATCCTC -3'

Sequencing Primer
(F):5'- TCAACATGGCAGGGACATC -3'
(R):5'- CCTGGATTCACATCTCCACAC -3'

Posted On

2014-10-15