Mutagenetix > Incidental Mutation

Incidental Mutation 'R1812:Or5w13'

202442

Institutional Source

Beutler Lab

Gene Symbol

Or5w13

Ensembl Gene

ENSMUSG00000075151

Gene Name

olfactory receptor family 5 subfamily W member 13

Synonyms

Olfr1136, MOR177-3, GA_x6K02T2Q125-49193051-49192119

MMRRC Submission

039840-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.189) question?

Stock #

R1812 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87523225-87524291 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87523447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 260 (F260L)

Ref Sequence

ENSEMBL: ENSMUSP00000076681 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077471] [ENSMUST00000099852]

AlphaFold

Q0VBI4

Predicted Effect

probably benign
Transcript: ENSMUST00000077471
AA Change: F260L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000076681
Gene: ENSMUSG00000075151
AA Change: F260L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	6e-48	PFAM
Pfam:7tm_1	40	289	2e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099852
AA Change: F260L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000097438
Gene: ENSMUSG00000068815
AA Change: F260L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	2e-41	PFAM
Pfam:7tm_1	41	290	4.3e-14	PFAM

Coding Region Coverage

1x: 97.3%
3x: 96.3%
10x: 93.2%
20x: 85.7%

Validation Efficiency

100% (1/1)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	G	A	9: 57,164,740 (GRCm39)	Q545*	probably null	Het
Aadacl2	T	C	3: 59,932,498 (GRCm39)	C338R	probably damaging	Het
Abcb4	G	A	5: 8,978,578 (GRCm39)		probably null	Het
Adam17	T	C	12: 21,411,768 (GRCm39)	D41G	probably damaging	Het
Angptl7	T	A	4: 148,582,540 (GRCm39)	I119F	probably damaging	Het
Arid1b	T	A	17: 5,387,304 (GRCm39)	S1586T	probably benign	Het
Arid4b	C	T	13: 14,370,014 (GRCm39)	A1170V	probably damaging	Het
Atad5	A	G	11: 80,023,873 (GRCm39)	T1659A	probably damaging	Het
Bub1b	T	G	2: 118,462,902 (GRCm39)	D754E	probably benign	Het
Cdkn1a	T	C	17: 29,317,539 (GRCm39)	V53A	probably benign	Het
Chsy1	T	G	7: 65,821,565 (GRCm39)	V600G	probably benign	Het
Cntrl	G	A	2: 35,039,481 (GRCm39)	V561M	probably damaging	Het
Col6a5	A	G	9: 105,805,253 (GRCm39)	C1218R	unknown	Het
Crhr1	T	C	11: 104,059,973 (GRCm39)	L140P	probably damaging	Het
Cyb5b	CAGAG	CAG	8: 107,897,020 (GRCm39)		probably null	Het
Cyp3a59	A	T	5: 146,039,621 (GRCm39)	Q298L	probably damaging	Het
Dctn1	A	G	6: 83,169,500 (GRCm39)	E638G	possibly damaging	Het
Ddx41	A	G	13: 55,683,767 (GRCm39)	I88T	probably benign	Het
Dennd11	A	G	6: 40,386,365 (GRCm39)	I288T	probably benign	Het
Diaph1	G	T	18: 38,024,071 (GRCm39)	P589Q	unknown	Het
Dip2b	C	A	15: 100,096,819 (GRCm39)		probably null	Het
Dscaml1	G	A	9: 45,662,584 (GRCm39)		probably null	Het
Dync1h1	C	T	12: 110,629,334 (GRCm39)	A4246V	possibly damaging	Het
Epb41l1	T	C	2: 156,338,431 (GRCm39)	I158T	probably damaging	Het
Fat1	A	G	8: 45,489,840 (GRCm39)	Y3584C	probably damaging	Het
Fxyd5	T	A	7: 30,737,355 (GRCm39)		probably null	Het
Gapvd1	T	A	2: 34,615,076 (GRCm39)	K336*	probably null	Het
Gm9637	G	A	14: 19,402,395 (GRCm38)		noncoding transcript	Het
Gpr65	C	T	12: 98,242,001 (GRCm39)	T218M	probably damaging	Het
Gsdma3	T	C	11: 98,523,219 (GRCm39)	V203A	probably damaging	Het
Helb	T	A	10: 119,925,471 (GRCm39)	K969*	probably null	Het
Hipk2	G	A	6: 38,675,098 (GRCm39)	A1188V	probably benign	Het
Itpk1	T	A	12: 102,540,317 (GRCm39)	E255D	probably benign	Het
Kif21a	T	C	15: 90,855,969 (GRCm39)	D596G	possibly damaging	Het
Kif5a	A	T	10: 127,077,879 (GRCm39)	I405N	probably benign	Het
Klk1b11	T	A	7: 43,427,179 (GRCm39)		probably null	Het
Luzp1	T	A	4: 136,269,642 (GRCm39)	L622M	probably benign	Het
Macf1	T	A	4: 123,325,817 (GRCm39)	I5227F	probably damaging	Het
Mapk10	A	C	5: 103,061,128 (GRCm39)	S470A	probably damaging	Het
Morc2a	C	T	11: 3,635,831 (GRCm39)	T897I	probably damaging	Het
Nmbr	A	G	10: 14,636,283 (GRCm39)		probably null	Het
Nosip	T	A	7: 44,725,998 (GRCm39)	M214K	probably damaging	Het
Or13c7d	G	T	4: 43,770,230 (GRCm39)	Y260*	probably null	Het
Or52m2	A	T	7: 102,263,577 (GRCm39)	N206K	possibly damaging	Het
Or52r1	T	C	7: 102,537,285 (GRCm39)	Y25C	probably benign	Het
Pik3c2a	A	T	7: 116,016,899 (GRCm39)	V286E	probably damaging	Het
Ppfia4	T	A	1: 134,252,311 (GRCm39)	I388F	probably benign	Het
Ppm1f	A	G	16: 16,735,651 (GRCm39)	H289R	probably damaging	Het
Ptprz1	T	A	6: 22,959,711 (GRCm39)	D69E	probably benign	Het
Rad54b	A	T	4: 11,612,770 (GRCm39)	T801S	probably damaging	Het
Ramp1	A	T	1: 91,124,579 (GRCm39)	N47Y	probably damaging	Het
Rnf32	T	A	5: 29,411,258 (GRCm39)	H181Q	possibly damaging	Het
Rpa2	T	C	4: 132,495,996 (GRCm39)	F6L	probably benign	Het
Ryr2	C	A	13: 11,575,472 (GRCm39)	R4842L	probably damaging	Het
Scn11a	G	T	9: 119,609,931 (GRCm39)	C972*	probably null	Het
Setd2	C	T	9: 110,379,170 (GRCm39)	T995I	probably damaging	Het
Slc39a7	A	G	17: 34,247,789 (GRCm39)	L471P	probably damaging	Het
Slc6a21	C	G	7: 44,932,371 (GRCm39)	S350R	probably damaging	Het
Slx4ip	A	G	2: 136,910,115 (GRCm39)	N300S	probably benign	Het
Spef2	G	A	15: 9,679,435 (GRCm39)	P634L	probably damaging	Het
Stk32b	G	A	5: 37,624,102 (GRCm39)	A215V	probably damaging	Het
Svil	A	T	18: 5,097,545 (GRCm39)	Y1676F	probably damaging	Het
Tanc1	G	A	2: 59,622,023 (GRCm39)	V381M	probably damaging	Het
Tanc2	T	C	11: 105,777,212 (GRCm39)	F797L	probably benign	Het
Tas2r120	T	G	6: 132,634,564 (GRCm39)	C215W	probably benign	Het
Tenm4	G	A	7: 96,545,147 (GRCm39)	D2388N	probably damaging	Het
Thsd4	C	T	9: 59,964,220 (GRCm39)	S64N	probably damaging	Het
Thsd7b	C	T	1: 129,686,347 (GRCm39)	R630C	probably damaging	Het
Top3a	A	G	11: 60,650,188 (GRCm39)	I145T	probably damaging	Het
Vmn2r78	A	G	7: 86,569,995 (GRCm39)	D171G	probably benign	Het
Vmn2r82	A	G	10: 79,215,046 (GRCm39)	E343G	probably benign	Het
Wdr70	T	C	15: 8,108,663 (GRCm39)	D161G	probably benign	Het

Other mutations in Or5w13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01809:Or5w13	APN	2	87,524,089 (GRCm39)	missense	possibly damaging	0.73
IGL02190:Or5w13	APN	2	87,523,407 (GRCm39)	missense	probably benign	0.21
IGL02902:Or5w13	APN	2	87,523,344 (GRCm39)	missense	probably damaging	1.00
PIT4508001:Or5w13	UTSW	2	87,524,059 (GRCm39)	missense	probably damaging	1.00
R0153:Or5w13	UTSW	2	87,523,948 (GRCm39)	missense	probably benign	0.05
R0665:Or5w13	UTSW	2	87,524,152 (GRCm39)	missense	probably benign	0.00
R1462:Or5w13	UTSW	2	87,523,720 (GRCm39)	missense	probably damaging	1.00
R1462:Or5w13	UTSW	2	87,523,720 (GRCm39)	missense	probably damaging	1.00
R1518:Or5w13	UTSW	2	87,523,872 (GRCm39)	missense	probably damaging	1.00
R1993:Or5w13	UTSW	2	87,523,777 (GRCm39)	missense	probably benign	0.07
R2098:Or5w13	UTSW	2	87,524,073 (GRCm39)	missense	probably benign	0.25
R3106:Or5w13	UTSW	2	87,523,849 (GRCm39)	missense	probably damaging	0.98
R4622:Or5w13	UTSW	2	87,523,987 (GRCm39)	nonsense	probably null
R4694:Or5w13	UTSW	2	87,524,104 (GRCm39)	missense	probably benign	0.03
R5079:Or5w13	UTSW	2	87,523,552 (GRCm39)	missense	probably damaging	0.99
R5474:Or5w13	UTSW	2	87,523,401 (GRCm39)	missense	probably damaging	1.00
R6432:Or5w13	UTSW	2	87,523,872 (GRCm39)	missense	probably damaging	1.00
R6667:Or5w13	UTSW	2	87,523,914 (GRCm39)	missense	probably benign	0.00
R7519:Or5w13	UTSW	2	87,523,753 (GRCm39)	missense	probably benign	0.01
R7652:Or5w13	UTSW	2	87,523,704 (GRCm39)	missense	probably damaging	1.00
R7657:Or5w13	UTSW	2	87,523,336 (GRCm39)	missense	probably damaging	0.99
R8230:Or5w13	UTSW	2	87,523,705 (GRCm39)	missense	probably damaging	1.00
R8439:Or5w13	UTSW	2	87,524,088 (GRCm39)	missense	probably damaging	1.00
R8799:Or5w13	UTSW	2	87,524,057 (GRCm39)	missense	possibly damaging	0.73
R9448:Or5w13	UTSW	2	87,523,824 (GRCm39)	missense	probably damaging	0.98
R9657:Or5w13	UTSW	2	87,524,121 (GRCm39)	missense	probably damaging	1.00
Z1176:Or5w13	UTSW	2	87,523,495 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATGATATTGACTCATGGGAATGC -3'
(R):5'- TGGTTTCATTGAACTAAGCACC -3'

Sequencing Primer
(F):5'- TTGACTCATGGGAATGCTGGAATAC -3'
(R):5'- AAGCACCATCTCAGGAGTTCTTG -3'

Posted On

2014-06-23