Mutagenetix > Incidental Mutation

Incidental Mutation 'R7312:Or5w20'

567643

Institutional Source

Beutler Lab

Gene Symbol

Or5w20

Ensembl Gene

ENSMUSG00000048197

Gene Name

olfactory receptor family 5 subfamily W member 20

Synonyms

Olfr1153, MOR177-7, GA_x6K02T2Q125-49395950-49396882

MMRRC Submission

045410-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.231) question?

Stock #

R7312 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87726521-87727477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 87726755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 71 (C71G)

Ref Sequence

ENSEMBL: ENSMUSP00000150945 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052300] [ENSMUST00000215017] [ENSMUST00000215862] [ENSMUST00000217436]

AlphaFold

A2AVC0

Predicted Effect

probably benign
Transcript: ENSMUST00000052300
AA Change: C79G

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000057839
Gene: ENSMUSG00000048197
AA Change: C79G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	38	315	4.9e-45	PFAM
Pfam:7tm_1	48	297	5.9e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215017

Predicted Effect

probably benign
Transcript: ENSMUST00000215862

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217436
AA Change: C71G

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)

Meta Mutation Damage Score

0.4896

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (60/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	T	C	3: 89,969,021 (GRCm39)	S215P	probably benign	Het
Ano2	C	T	6: 126,016,460 (GRCm39)	Q998*	probably null	Het
Atg9a	A	T	1: 75,164,736 (GRCm39)	V76E	probably damaging	Het
Cacna1c	T	C	6: 119,034,172 (GRCm39)	I118M		Het
Cacna1g	T	A	11: 94,323,383 (GRCm39)	I1274F	probably damaging	Het
Cd300lg	C	T	11: 101,937,767 (GRCm39)	A199V	probably benign	Het
Cfap61	C	T	2: 145,887,390 (GRCm39)	R612*	probably null	Het
Cpeb4	A	T	11: 31,881,417 (GRCm39)	Y692F	probably damaging	Het
Dcun1d1	A	G	3: 35,951,940 (GRCm39)		probably null	Het
Dennd2d	T	A	3: 106,398,579 (GRCm39)	M188K	probably benign	Het
Dmgdh	A	G	13: 93,845,354 (GRCm39)		probably null	Het
Efl1	T	A	7: 82,330,652 (GRCm39)	M275K	probably benign	Het
Erp29	G	T	5: 121,583,392 (GRCm39)	A178D	probably benign	Het
Fbn1	T	C	2: 125,308,594 (GRCm39)	N156S	possibly damaging	Het
Frrs1	C	T	3: 116,675,426 (GRCm39)	T118I	probably damaging	Het
Frrs1l	A	G	4: 56,968,230 (GRCm39)	W181R	probably benign	Het
Gprc5b	C	A	7: 118,583,482 (GRCm39)	W129L	probably damaging	Het
Hoxc9	A	G	15: 102,890,593 (GRCm39)	H170R	probably benign	Het
Il12rb2	C	T	6: 67,333,617 (GRCm39)	D221N	probably benign	Het
Lmo1	T	C	7: 108,742,819 (GRCm39)	N28S	probably benign	Het
Lrrfip2	T	A	9: 111,006,525 (GRCm39)		probably null	Het
Macf1	A	T	4: 123,400,130 (GRCm39)	F722I	probably damaging	Het
Mical1	T	C	10: 41,355,772 (GRCm39)		probably null	Het
Mtcl3	A	G	10: 29,073,240 (GRCm39)	Y844C	probably damaging	Het
Mtmr11	C	T	3: 96,071,855 (GRCm39)	T223M	possibly damaging	Het
Mup21	A	G	4: 62,068,468 (GRCm39)	V66A	probably benign	Het
Nav2	C	A	7: 49,111,672 (GRCm39)	A726D	possibly damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nudt21	A	T	8: 94,746,227 (GRCm39)	V157D	probably benign	Het
Numa1	T	C	7: 101,639,806 (GRCm39)	I52T	possibly damaging	Het
Obscn	T	C	11: 58,946,442 (GRCm39)	D4421G	probably benign	Het
Oog3	T	C	4: 143,886,801 (GRCm39)	I106M	probably benign	Het
Or10g9	A	T	9: 39,912,106 (GRCm39)	V139E	probably benign	Het
Or2g25	T	C	17: 37,970,403 (GRCm39)	T274A	possibly damaging	Het
Or2z9	T	C	8: 72,853,793 (GRCm39)	L63P	probably damaging	Het
Or51f1	T	A	7: 102,505,706 (GRCm39)	Y261F	probably damaging	Het
Orai2	T	A	5: 136,179,437 (GRCm39)	I199F	probably damaging	Het
P2rx5	C	A	11: 73,055,692 (GRCm39)	L50M	probably damaging	Het
Pdia2	T	C	17: 26,416,634 (GRCm39)	E215G	possibly damaging	Het
Pds5a	A	T	5: 65,823,570 (GRCm39)	S74T	possibly damaging	Het
Phlpp2	A	G	8: 110,666,785 (GRCm39)	S1105G	probably damaging	Het
Pi4kb	T	A	3: 94,891,888 (GRCm39)	D189E	probably benign	Het
Pigw	G	A	11: 84,768,585 (GRCm39)	T248M	probably damaging	Het
Pnlip	T	A	19: 58,670,134 (GRCm39)	V458D	probably damaging	Het
Ppm1l	G	A	3: 69,225,044 (GRCm39)	V49I	probably benign	Het
Prl3b1	T	A	13: 27,426,473 (GRCm39)	M1K	probably null	Het
Rad1	T	A	15: 10,493,367 (GRCm39)	C265S	probably benign	Het
Rnaset2b	C	T	17: 7,265,427 (GRCm39)	S237F	probably benign	Het
Rtl1	C	T	12: 109,561,672 (GRCm39)	A56T	unknown	Het
S1pr2	T	C	9: 20,879,238 (GRCm39)	I197V	probably benign	Het
Smyd4	A	G	11: 75,281,082 (GRCm39)	Q185R	probably benign	Het
Sox5	T	A	6: 144,100,759 (GRCm39)	T77S	probably benign	Het
Sox7	A	G	14: 64,185,291 (GRCm39)	Y109C	probably damaging	Het
Styxl2	C	T	1: 165,954,676 (GRCm39)	V25I	probably damaging	Het
Tln1	G	A	4: 43,545,922 (GRCm39)	R898C	probably damaging	Het
Tmprss11b	T	A	5: 86,812,173 (GRCm39)	E158V	probably damaging	Het
Tnpo3	C	A	6: 29,562,875 (GRCm39)	R614L	possibly damaging	Het
Vmn2r100	T	A	17: 19,742,296 (GRCm39)	D223E	probably benign	Het
Zc3h12d	A	T	10: 7,743,345 (GRCm39)	M372L	probably benign	Het
Zfp28	G	T	7: 6,386,593 (GRCm39)		probably benign	Het
Zfp963	A	T	8: 70,195,759 (GRCm39)	H231Q	probably damaging	Het
Zscan4b	A	G	7: 10,634,867 (GRCm39)	S459P	probably benign	Het

Other mutations in Or5w20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01075:Or5w20	APN	2	87,727,265 (GRCm39)	missense	probably benign	0.00
IGL02024:Or5w20	APN	2	87,727,243 (GRCm39)	missense	possibly damaging	0.81
IGL02219:Or5w20	APN	2	87,727,317 (GRCm39)	missense	possibly damaging	0.93
IGL02693:Or5w20	APN	2	87,726,877 (GRCm39)	missense	probably damaging	1.00
R0121:Or5w20	UTSW	2	87,727,434 (GRCm39)	missense	possibly damaging	0.93
R0315:Or5w20	UTSW	2	87,727,410 (GRCm39)	missense	probably damaging	1.00
R0446:Or5w20	UTSW	2	87,727,199 (GRCm39)	missense	possibly damaging	0.51
R0472:Or5w20	UTSW	2	87,726,837 (GRCm39)	missense	possibly damaging	0.47
R0720:Or5w20	UTSW	2	87,727,013 (GRCm39)	missense	probably benign	0.31
R1579:Or5w20	UTSW	2	87,727,286 (GRCm39)	missense	probably benign	0.05
R1968:Or5w20	UTSW	2	87,727,383 (GRCm39)	missense	probably damaging	1.00
R3909:Or5w20	UTSW	2	87,727,293 (GRCm39)	splice site	probably null
R4936:Or5w20	UTSW	2	87,727,157 (GRCm39)	missense	probably benign	0.06
R5520:Or5w20	UTSW	2	87,726,753 (GRCm39)	unclassified	probably benign
R5585:Or5w20	UTSW	2	87,727,019 (GRCm39)	missense	possibly damaging	0.54
R6176:Or5w20	UTSW	2	87,727,280 (GRCm39)	missense	probably benign	0.18
R6272:Or5w20	UTSW	2	87,727,001 (GRCm39)	missense	probably benign	0.00
R6451:Or5w20	UTSW	2	87,726,935 (GRCm39)	missense	probably damaging	1.00
R7350:Or5w20	UTSW	2	87,726,753 (GRCm39)	unclassified	probably benign
R8060:Or5w20	UTSW	2	87,727,317 (GRCm39)	missense	probably damaging	1.00
R8752:Or5w20	UTSW	2	87,726,591 (GRCm39)	missense	possibly damaging	0.66
R9474:Or5w20	UTSW	2	87,726,693 (GRCm39)	missense	probably benign	0.00
R9710:Or5w20	UTSW	2	87,726,902 (GRCm39)	missense	probably damaging	1.00
Z1088:Or5w20	UTSW	2	87,726,977 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GGTTGGAAACTGTTCAGCCAC -3'
(R):5'- CATATCTACCGCATACATCAAGGG -3'

Sequencing Primer
(F):5'- GGAAACTGTTCAGCCACTGAGTTTC -3'
(R):5'- CGCATACATCAAGGGGTTGCTG -3'

Posted On

2019-06-26