Mutagenetix > Incidental Mutation

Incidental Mutation 'R3106:Or5w13'

263035

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

040580-MU

Accession Numbers

Essential gene?

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

Stock #

R3106 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87523225-87524291 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87523849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 126 (I126V)

Ref Sequence

ENSEMBL: ENSMUSP00000076681 (fasta)

Gene Model

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

AlphaFold

Q0VBI4

Predicted Effect

probably damaging
Transcript: ENSMUST00000077471
AA Change: I126V

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076681
Gene: ENSMUSG00000075151
AA Change: I126V

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 damaging
Transcript: ENSMUST00000099852
AA Change: I126V

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097438
Gene: ENSMUSG00000068815
AA Change: I126V

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

Meta Mutation Damage Score

0.2621

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (53/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 119,995,856 (GRCm39)	E1331V	possibly damaging	Het
Adam22	A	G	5: 8,167,583 (GRCm39)		probably null	Het
Adamts17	T	A	7: 66,774,820 (GRCm39)	S980T	probably damaging	Het
Adarb1	C	A	10: 77,157,591 (GRCm39)	K285N	probably damaging	Het
Atp5f1c	A	G	2: 10,068,276 (GRCm39)	S160P	probably benign	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 127,960,946 (GRCm39)		probably null	Het
Btf3	T	G	13: 98,447,496 (GRCm39)	E145D	probably benign	Het
Ccdc184	G	T	15: 98,066,482 (GRCm39)	A96S	probably damaging	Het
Ccdc191	T	C	16: 43,751,573 (GRCm39)	F301S	probably damaging	Het
Ceacam5	T	C	7: 17,481,248 (GRCm39)	Y332H	probably benign	Het
Clip2	T	C	5: 134,551,918 (GRCm39)	K68R	probably benign	Het
Cntln	C	T	4: 84,875,406 (GRCm39)	T280M	possibly damaging	Het
Col6a3	T	C	1: 90,744,024 (GRCm39)	R515G	probably damaging	Het
Ctnnal1	G	A	4: 56,813,246 (GRCm39)	L662F	probably benign	Het
Dennd3	C	A	15: 73,436,973 (GRCm39)	S118*	probably null	Het
Dgkg	T	A	16: 22,394,091 (GRCm39)	T321S	probably damaging	Het
Dzip1l	A	T	9: 99,524,625 (GRCm39)	K249*	probably null	Het
Dzip1l	A	G	9: 99,529,174 (GRCm39)	E301G	probably benign	Het
Emc10	G	A	7: 44,142,616 (GRCm39)	R109W	probably damaging	Het
Ezh1	A	C	11: 101,086,468 (GRCm39)	C575W	probably damaging	Het
Fam187b	A	G	7: 30,676,665 (GRCm39)	D58G	probably benign	Het
Galnt4	T	C	10: 98,945,243 (GRCm39)	Y323H	probably benign	Het
Grm1	A	G	10: 10,955,601 (GRCm39)	S228P	probably benign	Het
H1f2	G	T	13: 23,922,883 (GRCm39)	A18S	unknown	Het
Hnf4g	T	G	3: 3,717,916 (GRCm39)	S388R	probably benign	Het
Il1rap	A	G	16: 26,541,502 (GRCm39)	E581G	probably benign	Het
Lemd2	C	A	17: 27,420,644 (GRCm39)	L256F	probably damaging	Het
Mnd1	C	A	3: 84,041,416 (GRCm39)	C62F	probably benign	Het
Nphs1	C	A	7: 30,166,965 (GRCm39)	S724*	probably null	Het
Or4g17	A	G	2: 111,209,840 (GRCm39)	N165S	probably benign	Het
Osgep	T	C	14: 51,154,286 (GRCm39)	T225A	probably benign	Het
Pan3	T	C	5: 147,476,189 (GRCm39)		probably benign	Het
Pld3	A	G	7: 27,235,212 (GRCm39)		probably null	Het
Plekha7	C	T	7: 115,763,639 (GRCm39)	R321K	probably benign	Het
Plekhg5	C	T	4: 152,196,635 (GRCm39)	T694M	probably damaging	Het
Pramel31	T	C	4: 144,088,246 (GRCm39)	V14A	probably benign	Het
Ptpn20	A	G	14: 33,334,253 (GRCm39)	I44V	probably benign	Het
Ptprj	T	A	2: 90,270,975 (GRCm39)	H1251L	probably damaging	Het
Sbspon	T	C	1: 15,962,806 (GRCm39)	E24G	probably benign	Het
Sfmbt1	G	A	14: 30,539,753 (GRCm39)	C847Y	probably damaging	Het
Sparcl1	T	C	5: 104,241,203 (GRCm39)	T74A	probably benign	Het
Sppl2b	A	G	10: 80,703,325 (GRCm39)	E529G	probably benign	Het
Stradb	C	A	1: 59,031,450 (GRCm39)	H212Q	possibly damaging	Het
Tkfc	G	T	19: 10,574,357 (GRCm39)	C198*	probably null	Het
Tm4sf4	C	T	3: 57,345,043 (GRCm39)	R150C	possibly damaging	Het
Tmem212	T	C	3: 27,939,019 (GRCm39)	S156G	probably damaging	Het
Tmem51	T	C	4: 141,765,035 (GRCm39)	N8D	probably damaging	Het
Tmigd1	A	G	11: 76,801,124 (GRCm39)	T204A	possibly damaging	Het
Trp53bp1	A	G	2: 121,067,133 (GRCm39)	L531S	probably damaging	Het
Tsga10	G	A	1: 37,840,872 (GRCm39)	L445F	probably damaging	Het
Urb1	C	T	16: 90,592,331 (GRCm39)	V310I	probably damaging	Het
Vmn2r129	T	A	4: 156,685,730 (GRCm39)		noncoding transcript	Het
Wdr19	T	C	5: 65,359,966 (GRCm39)	S24P	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
R1812:Or5w13	UTSW	2	87,523,447 (GRCm39)	missense	probably benign	0.01
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
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'- AAGAACTCCTGAGATGGTGC -3'
(R):5'- TGGATCCCCAGCTTCACATAC -3'

Sequencing Primer
(F):5'- GAGATGGTGCTTAGTTCAATGAAACC -3'
(R):5'- CCAGCTTCACATACCAATGTATTTC -3'

Posted On

2015-02-05