Mutagenetix > Incidental Mutation

Incidental Mutation 'R8799:Or5w13'

671419

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.220) question?

Stock #

R8799 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87523225-87524291 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 87524057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 56 (H56Q)

Ref Sequence

ENSEMBL: ENSMUSP00000076681 (fasta)

Gene Model

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

AlphaFold

Q0VBI4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077471
AA Change: H56Q

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000076681
Gene: ENSMUSG00000075151
AA Change: H56Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (57/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	T	A	11: 83,331,578 (GRCm39)	C134S	probably damaging	Het
Acox3	T	G	5: 35,747,052 (GRCm39)	F156L	probably damaging	Het
Adprhl1	T	C	8: 13,272,474 (GRCm39)	E1428G	probably benign	Het
Arhgap40	A	T	2: 158,354,758 (GRCm39)	M15L	probably benign	Het
Bahcc1	C	A	11: 120,177,173 (GRCm39)	F2020L	probably damaging	Het
BC024063	A	T	10: 81,945,352 (GRCm39)	H324L	probably benign	Het
Ccdc40	C	A	11: 119,155,292 (GRCm39)	S1177R	probably benign	Het
Ccne2	A	T	4: 11,201,355 (GRCm39)	R294S	probably benign	Het
Cib1	A	C	7: 79,882,291 (GRCm39)	S6R	probably damaging	Het
Csnk2a1	A	G	2: 152,099,886 (GRCm39)	E114G	probably damaging	Het
Cxxc1	A	G	18: 74,354,128 (GRCm39)		probably benign	Het
Decr2	A	C	17: 26,307,911 (GRCm39)	I47M	possibly damaging	Het
Dmxl2	A	G	9: 54,327,027 (GRCm39)		probably null	Het
Dse	G	A	10: 34,060,149 (GRCm39)		probably benign	Het
Eml6	A	G	11: 29,708,981 (GRCm39)	V1480A	probably benign	Het
Erap1	A	G	13: 74,805,755 (GRCm39)	I165M	probably benign	Het
Fan1	G	T	7: 64,016,406 (GRCm39)	Q573K	probably damaging	Het
Fndc3a	G	A	14: 72,793,955 (GRCm39)	T906I	probably benign	Het
Gm21915	A	C	9: 40,582,006 (GRCm39)	H33P	possibly damaging	Het
Idh1	CA	CAA	1: 65,204,347 (GRCm39)		probably null	Het
Lama3	G	T	18: 12,624,000 (GRCm39)	Q1384H	probably damaging	Het
Lrrc34	C	T	3: 30,678,979 (GRCm39)	E373K	probably benign	Het
Ly75	A	G	2: 60,178,785 (GRCm39)	F677L	probably damaging	Het
Megf11	A	G	9: 64,588,673 (GRCm39)	D493G	probably benign	Het
Mta3	A	T	17: 84,096,369 (GRCm39)	I348F	possibly damaging	Het
Myo1d	A	T	11: 80,575,205 (GRCm39)	F170L	probably damaging	Het
Nfkbia	A	G	12: 55,539,083 (GRCm39)		probably benign	Het
Nfx1	A	T	4: 41,023,727 (GRCm39)	E1045D	probably damaging	Het
Npffr2	T	G	5: 89,731,177 (GRCm39)	V369G	probably benign	Het
Or14c44	T	C	7: 86,061,854 (GRCm39)	C95R	probably damaging	Het
Or4d5	A	T	9: 40,011,985 (GRCm39)	M267K	possibly damaging	Het
Or4f59	A	T	2: 111,872,528 (GRCm39)	I283N	probably damaging	Het
Or5t18	A	T	2: 86,636,575 (GRCm39)	M256K	probably damaging	Het
Otoa	G	A	7: 120,691,894 (GRCm39)	E41K	possibly damaging	Het
Podxl	A	G	6: 31,501,400 (GRCm39)	V385A	probably damaging	Het
Ppp4r4	C	T	12: 103,567,623 (GRCm39)	T673M	possibly damaging	Het
Rbm20	G	T	19: 53,821,120 (GRCm39)	C525F	probably damaging	Het
Rnf17	A	T	14: 56,737,886 (GRCm39)	E1222D	probably damaging	Het
Ros1	G	A	10: 51,922,143 (GRCm39)	A2331V	probably benign	Het
Rrs1	T	A	1: 9,615,819 (GRCm39)	I24N	probably damaging	Het
Sec11a	A	G	7: 80,584,850 (GRCm39)	V29A	possibly damaging	Het
Shisa3	T	A	5: 67,768,749 (GRCm39)	Y216*	probably null	Het
Slc22a2	A	T	17: 12,831,425 (GRCm39)	Y405F	probably benign	Het
Slc2a12	A	T	10: 22,568,105 (GRCm39)	M511L	possibly damaging	Het
Slc38a9	T	A	13: 112,840,136 (GRCm39)	H338Q	probably damaging	Het
Slco1c1	T	G	6: 141,505,531 (GRCm39)	S486A	probably benign	Het
Slit2	T	C	5: 48,461,524 (GRCm39)	S1524P	possibly damaging	Het
Spata31d1c	T	C	13: 65,184,140 (GRCm39)	S561P	possibly damaging	Het
Stac3	T	A	10: 127,340,781 (GRCm39)	M182K	probably damaging	Het
Stt3b	T	C	9: 115,077,685 (GRCm39)	E689G	probably damaging	Het
Suclg1	A	G	6: 73,248,091 (GRCm39)	K271E	probably benign	Het
Tas1r1	A	G	4: 152,116,708 (GRCm39)	Y309H	probably benign	Het
Tbc1d5	TGC	TGCCGC	17: 51,106,969 (GRCm39)		probably benign	Het
Tbc1d5	TG	TGCGG	17: 51,106,978 (GRCm39)		probably benign	Het
Tbc1d5	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	17: 51,106,962 (GRCm39)		probably benign	Het
Tbc1d5	TGC	TGCGGC	17: 51,106,963 (GRCm39)		probably benign	Het
Tmem101	A	G	11: 102,044,336 (GRCm39)	F184L	probably benign	Het
Zfp474	A	G	18: 52,772,166 (GRCm39)	Q273R	probably benign	Het
Zfyve28	A	G	5: 34,390,670 (GRCm39)	L197P	probably damaging	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
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
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'- GGCCTTGTATCTATCAAAGGCC -3'
(R):5'- TCAAACCCTAAGAGACCTTTGTC -3'

Sequencing Primer
(F):5'- TTGTATCTATCAAAGGCCATCACCG -3'
(R):5'- TTTAGATCATGAACAGAGAAGAATGG -3'

Posted On

2021-04-30