Mutagenetix > Incidental Mutation

Incidental Mutation 'R8110:Or5w11'

630788

Institutional Source

Beutler Lab

Gene Symbol

Or5w11

Ensembl Gene

ENSMUSG00000068819

Gene Name

olfactory receptor family 5 subfamily W member 11

Synonyms

GA_x6K02T2Q125-49133664-49134593, MOR177-4, Olfr1131

MMRRC Submission

067539-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R8110 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87458809-87459738 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87458951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 48 (I48T)

Ref Sequence

ENSEMBL: ENSMUSP00000150754 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090712] [ENSMUST00000213302] [ENSMUST00000216082] [ENSMUST00000216756]

AlphaFold

Q7TR45

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090712
AA Change: I48T

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000088214
Gene: ENSMUSG00000068819
AA Change: I48T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	5.2e-47	PFAM
Pfam:7tm_1	40	289	1.7e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213302
AA Change: I48T

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000216082

Predicted Effect

probably benign
Transcript: ENSMUST00000216756

Meta Mutation Damage Score

0.3324

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 93.1%

Validation Efficiency

99% (73/74)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd45	T	C	1: 160,978,889 (GRCm39)		probably null	Het
Appl1	C	A	14: 26,649,751 (GRCm39)	G592*	probably null	Het
Arfgef2	T	A	2: 166,720,464 (GRCm39)	M1501K	probably benign	Het
Calcrl	C	T	2: 84,169,683 (GRCm39)	A333T	probably damaging	Het
Cd200r3	T	A	16: 44,771,835 (GRCm39)	I33N	probably benign	Het
Ceacam15	A	G	7: 16,407,334 (GRCm39)	L61P	probably benign	Het
Cfap69	T	A	5: 5,632,515 (GRCm39)	H827L	possibly damaging	Het
Csmd3	T	A	15: 47,507,666 (GRCm39)	E2780V	probably damaging	Het
Cyp2u1	G	A	3: 131,087,303 (GRCm39)	T426I	probably damaging	Het
Eefsec	A	C	6: 88,353,312 (GRCm39)	I119S	probably damaging	Het
Fem1b	T	C	9: 62,703,550 (GRCm39)	N570S	probably damaging	Het
Fmo9	A	G	1: 166,491,095 (GRCm39)	M461T	probably benign	Het
Fryl	A	G	5: 73,290,620 (GRCm39)	Y95H	probably benign	Het
Fsip2	T	C	2: 82,789,017 (GRCm39)	I346T	probably benign	Het
Fto	T	C	8: 92,211,818 (GRCm39)	F381S	probably damaging	Het
Gabbr1	G	C	17: 37,359,475 (GRCm39)	S150T	probably benign	Het
Galnt9	G	T	5: 110,763,339 (GRCm39)	W448L	probably damaging	Het
Gcnt2	G	T	13: 41,071,198 (GRCm39)		probably benign	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Hectd4	A	G	5: 121,471,012 (GRCm39)	Y2633C	possibly damaging	Het
Hsd11b2	A	G	8: 106,249,266 (GRCm39)	I214V	probably damaging	Het
Hspa12a	T	A	19: 58,809,445 (GRCm39)	E217V	possibly damaging	Het
Itih2	A	G	2: 10,101,948 (GRCm39)	F845L	probably damaging	Het
Kcnn3	T	A	3: 89,568,540 (GRCm39)	L606H	probably damaging	Het
Krt6b	G	A	15: 101,588,577 (GRCm39)	R28C	probably damaging	Het
Lama2	T	A	10: 26,866,866 (GRCm39)	D2876V	probably damaging	Het
Lmbrd2	T	C	15: 9,175,279 (GRCm39)	S397P	probably damaging	Het
Lmf2	C	T	15: 89,236,561 (GRCm39)		probably null	Het
Lrp2	A	G	2: 69,336,797 (GRCm39)	I1325T	probably benign	Het
Ltbp2	A	T	12: 84,850,676 (GRCm39)	C879*	probably null	Het
Map3k1	A	G	13: 111,891,847 (GRCm39)	V1136A	probably damaging	Het
Mettl3	G	T	14: 52,537,709 (GRCm39)	H84N	probably benign	Het
Mia2	A	G	12: 59,155,873 (GRCm39)		probably null	Het
Mlip	G	T	9: 77,146,861 (GRCm39)	T92K	probably damaging	Het
Nalcn	T	A	14: 123,702,113 (GRCm39)	Y466F	probably benign	Het
Nav2	T	A	7: 49,201,698 (GRCm39)	L235*	probably null	Het
Nbn	T	C	4: 15,981,588 (GRCm39)	V560A	probably benign	Het
Ncln	A	T	10: 81,328,987 (GRCm39)	Y144N	possibly damaging	Het
Nfe2l2	A	C	2: 75,509,765 (GRCm39)	D18E	probably benign	Het
Or10aa3	G	A	1: 173,878,091 (GRCm39)	A51T	probably benign	Het
Or12d2	A	G	17: 37,624,604 (GRCm39)	F224L	probably benign	Het
Or1ak2	T	C	2: 36,827,721 (GRCm39)	C197R	possibly damaging	Het
Otop3	A	T	11: 115,230,221 (GRCm39)	M33L	probably benign	Het
Pate7	T	C	9: 35,689,329 (GRCm39)	*84W	probably null	Het
Pdzd2	G	A	15: 12,373,592 (GRCm39)	S2181L	probably benign	Het
Phf14	T	C	6: 11,953,422 (GRCm39)	I387T	possibly damaging	Het
Prb1c	C	T	6: 132,338,531 (GRCm39)	G229D	unknown	Het
Prdm9	T	A	17: 15,774,960 (GRCm39)	N318Y	probably damaging	Het
Proca1	A	G	11: 78,095,737 (GRCm39)	D123G	probably damaging	Het
Prune2	G	A	19: 17,098,083 (GRCm39)	G1196S	probably benign	Het
Psd3	T	A	8: 68,573,708 (GRCm39)	S158C	probably damaging	Het
Rps18	A	G	17: 34,174,110 (GRCm39)	V15A	probably benign	Het
Sanbr	G	T	11: 23,526,764 (GRCm39)	T696N	probably benign	Het
Sharpin	C	A	15: 76,231,965 (GRCm39)	R271L	possibly damaging	Het
Smad5	C	A	13: 56,871,701 (GRCm39)	Q99K	probably damaging	Het
Sox5	T	C	6: 144,062,200 (GRCm39)	M151V	possibly damaging	Het
Sphkap	A	T	1: 83,256,492 (GRCm39)	F419Y	possibly damaging	Het
Tbx20	T	A	9: 24,636,821 (GRCm39)	Y422F	probably damaging	Het
Tcirg1	A	C	19: 3,949,099 (GRCm39)	F397V	probably damaging	Het
Tex36	G	A	7: 133,197,012 (GRCm39)	S35F	possibly damaging	Het
Tsen54	G	T	11: 115,705,760 (GRCm39)	A26S	unknown	Het
Usp50	T	A	2: 126,622,250 (GRCm39)		probably null	Het
Vmn2r5	A	T	3: 64,398,709 (GRCm39)	F757I	probably benign	Het
Zbbx	T	C	3: 75,062,749 (GRCm39)	T3A	possibly damaging	Het
Zfp28	T	A	7: 6,392,828 (GRCm39)	M168K	probably benign	Het
Zfp568	G	T	7: 29,722,551 (GRCm39)	G499W	probably damaging	Het
Zfp7	C	G	15: 76,775,131 (GRCm39)	P391R	possibly damaging	Het

Other mutations in Or5w11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01388:Or5w11	APN	2	87,458,973 (GRCm39)	missense	probably benign	0.03
IGL02186:Or5w11	APN	2	87,459,715 (GRCm39)	missense	probably benign	0.00
R0266:Or5w11	UTSW	2	87,459,626 (GRCm39)	missense	possibly damaging	0.79
R0849:Or5w11	UTSW	2	87,459,626 (GRCm39)	missense	possibly damaging	0.79
R1607:Or5w11	UTSW	2	87,459,321 (GRCm39)	missense	probably benign	0.14
R2077:Or5w11	UTSW	2	87,459,173 (GRCm39)	missense	probably damaging	1.00
R2105:Or5w11	UTSW	2	87,459,283 (GRCm39)	missense	probably benign	0.20
R2322:Or5w11	UTSW	2	87,459,118 (GRCm39)	missense	possibly damaging	0.86
R3434:Or5w11	UTSW	2	87,459,418 (GRCm39)	missense	probably benign	0.02
R4357:Or5w11	UTSW	2	87,458,810 (GRCm39)	start codon destroyed	probably null	1.00
R5139:Or5w11	UTSW	2	87,459,000 (GRCm39)	missense	probably benign	0.03
R5333:Or5w11	UTSW	2	87,459,458 (GRCm39)	missense	probably damaging	0.97
R5719:Or5w11	UTSW	2	87,459,475 (GRCm39)	splice site	probably null
R6449:Or5w11	UTSW	2	87,459,493 (GRCm39)	missense	possibly damaging	0.63
R7640:Or5w11	UTSW	2	87,459,436 (GRCm39)	missense	probably benign	0.01
R7941:Or5w11	UTSW	2	87,459,248 (GRCm39)	missense	probably benign	0.06
R8393:Or5w11	UTSW	2	87,459,197 (GRCm39)	missense	probably damaging	0.97
R8877:Or5w11	UTSW	2	87,459,212 (GRCm39)	missense	probably damaging	1.00
R9250:Or5w11	UTSW	2	87,459,278 (GRCm39)	missense	probably benign	0.02
R9290:Or5w11	UTSW	2	87,459,209 (GRCm39)	missense	probably benign	0.00
R9313:Or5w11	UTSW	2	87,459,076 (GRCm39)	missense	probably benign	0.03
R9666:Or5w11	UTSW	2	87,459,152 (GRCm39)	missense	possibly damaging	0.78
X0027:Or5w11	UTSW	2	87,459,647 (GRCm39)	missense	possibly damaging	0.96
Z1176:Or5w11	UTSW	2	87,459,659 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAGAAATAAACTGTGTTCTACCTC -3'
(R):5'- CTATCAAAGGCCATGACTGCC -3'

Sequencing Primer
(F):5'- GGGAGTTACCAATAACCCAG -3'
(R):5'- GCAGCACACACTCAGAATCTG -3'

Posted On

2020-06-30