Mutagenetix > Incidental Mutation

Incidental Mutation 'R0543:Or5w17'

50030

Institutional Source

Beutler Lab

Gene Symbol

Or5w17

Ensembl Gene

ENSMUSG00000075148

Gene Name

olfactory receptor family 5 subfamily W member 17, pseudogene 1

Synonyms

Olfr1141, GA_x6K02T2Q125-49257818-49256883, MOR177-10

MMRRC Submission

038735-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R0543 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87583400-87584335 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 87583994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 114 (L114F)

Ref Sequence

ENSEMBL: ENSMUSP00000097433 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099846]

AlphaFold

Q8VFQ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000099846
AA Change: L114F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097433
Gene: ENSMUSG00000075148
AA Change: L114F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	2.8e-28	PFAM
Pfam:7tm_1	41	290	1.5e-6	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

99% (69/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox5	T	A	6: 116,431,278 (GRCm39)		probably null	Het
Apol9b	A	G	15: 77,619,840 (GRCm39)	N212S	probably damaging	Het
Ash1l	T	A	3: 88,971,085 (GRCm39)		probably null	Het
Bltp1	G	A	3: 37,050,607 (GRCm39)	S2981N	probably benign	Het
Ccdc180	A	T	4: 45,900,041 (GRCm39)	K200*	probably null	Het
Ccser2	A	T	14: 36,662,149 (GRCm39)	M345K	probably benign	Het
Cdcp2	A	T	4: 106,954,873 (GRCm39)		probably null	Het
Clca3a1	T	C	3: 144,454,155 (GRCm39)		probably benign	Het
Cntn3	G	A	6: 102,246,051 (GRCm39)		probably benign	Het
Col28a1	T	A	6: 8,075,326 (GRCm39)		probably benign	Het
Dock2	A	G	11: 34,244,325 (GRCm39)	F1035S	probably damaging	Het
Dsg1a	A	T	18: 20,473,920 (GRCm39)	S998C	probably damaging	Het
Ecrg4	C	A	1: 43,781,449 (GRCm39)	N110K	possibly damaging	Het
Enox1	T	C	14: 77,744,399 (GRCm39)		probably benign	Het
Fgfr3	A	G	5: 33,887,054 (GRCm39)	M1V	probably null	Het
Fuca2	T	A	10: 13,378,870 (GRCm39)	Y5N	probably damaging	Het
Git2	G	T	5: 114,883,592 (GRCm39)	H42Q	probably damaging	Het
Gm7964	G	A	7: 83,405,602 (GRCm39)		noncoding transcript	Het
Hars2	G	A	18: 36,922,477 (GRCm39)	E337K	probably damaging	Het
Hells	A	G	19: 38,956,194 (GRCm39)	R797G	probably benign	Het
Hnf1a	G	A	5: 115,088,803 (GRCm39)	S571L	probably benign	Het
Hoxa5	T	C	6: 52,181,320 (GRCm39)	Y4C	probably damaging	Het
Inpp4a	G	A	1: 37,408,573 (GRCm39)		probably benign	Het
Ints6	T	C	14: 62,934,060 (GRCm39)	I816V	probably damaging	Het
Itpr1	T	C	6: 108,492,709 (GRCm39)		probably benign	Het
Itprid2	T	A	2: 79,474,850 (GRCm39)	S270T	possibly damaging	Het
Kcnt2	C	A	1: 140,537,352 (GRCm39)	P1037T	probably damaging	Het
Lyg2	T	A	1: 37,950,188 (GRCm39)	M47L	possibly damaging	Het
Macf1	G	T	4: 123,270,171 (GRCm39)	A4648D	probably damaging	Het
Mcf2l	T	C	8: 13,046,728 (GRCm39)		probably null	Het
Mcm9	C	T	10: 53,417,694 (GRCm39)	R3H	probably damaging	Het
Met	T	A	6: 17,491,969 (GRCm39)	Y244N	probably damaging	Het
Mettl14	A	T	3: 123,168,411 (GRCm39)	C210S	possibly damaging	Het
Mrgpra4	T	C	7: 47,631,058 (GRCm39)	Y181C	probably benign	Het
Mtch2	T	C	2: 90,680,026 (GRCm39)	V86A	possibly damaging	Het
Mttp	A	T	3: 137,817,457 (GRCm39)	I446N	possibly damaging	Het
Muc4	T	A	16: 32,577,120 (GRCm39)	S2207T	unknown	Het
Muc5b	A	G	7: 141,405,522 (GRCm39)	T944A	unknown	Het
Myo15a	A	T	11: 60,369,877 (GRCm39)	H879L	probably benign	Het
Nherf4	A	C	9: 44,160,231 (GRCm39)	H324Q	probably damaging	Het
Nkiras2	G	A	11: 100,515,018 (GRCm39)		probably benign	Het
Nostrin	T	G	2: 69,019,475 (GRCm39)	*507E	probably null	Het
Nup205	T	C	6: 35,175,904 (GRCm39)	V589A	probably benign	Het
Or12j3	A	G	7: 139,953,307 (GRCm39)	I72T	probably benign	Het
Or5b21	G	T	19: 12,839,252 (GRCm39)	V38F	probably benign	Het
Oxct2b	T	A	4: 123,010,782 (GRCm39)	M234K	possibly damaging	Het
Pcdha1	A	T	18: 37,318,121 (GRCm39)	I945F	probably damaging	Het
Pik3ca	G	A	3: 32,504,410 (GRCm39)		probably null	Het
Pkhd1l1	A	G	15: 44,386,887 (GRCm39)		probably null	Het
Plscr1	A	T	9: 92,140,099 (GRCm39)		probably null	Het
Prkn	G	A	17: 11,286,066 (GRCm39)	D20N	probably damaging	Het
Psd	T	C	19: 46,307,956 (GRCm39)	E684G	possibly damaging	Het
Rab11fip3	T	C	17: 26,213,199 (GRCm39)	E870G	probably damaging	Het
Rpl22l1	C	A	3: 28,861,423 (GRCm39)	Y103*	probably null	Het
Semp2l2b	T	C	10: 21,942,823 (GRCm39)	S386G	possibly damaging	Het
Slc38a4	A	T	15: 96,914,720 (GRCm39)	N44K	possibly damaging	Het
Slco6c1	T	A	1: 97,055,623 (GRCm39)	I93F	probably damaging	Het
Strip1	G	A	3: 107,534,091 (GRCm39)	T181M	possibly damaging	Het
Stxbp5l	G	A	16: 37,028,458 (GRCm39)	A535V	probably damaging	Het
Tg	A	T	15: 66,601,446 (GRCm39)	Q152L	probably benign	Het
Thada	T	C	17: 84,730,591 (GRCm39)	T1036A	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tns1	T	A	1: 73,991,856 (GRCm39)	T941S	probably benign	Het
Tppp3	T	C	8: 106,194,840 (GRCm39)	D97G	probably benign	Het
Trp53bp1	C	A	2: 121,082,349 (GRCm39)	A317S	probably null	Het
Trpm7	T	C	2: 126,690,449 (GRCm39)	I210V	probably damaging	Het
Ubr1	A	G	2: 120,711,574 (GRCm39)	L1440P	probably damaging	Het
Utp18	A	T	11: 93,766,661 (GRCm39)	Y317N	probably damaging	Het
Zdhhc5	T	A	2: 84,522,824 (GRCm39)		probably benign	Het
Zfp719	A	G	7: 43,238,677 (GRCm39)		probably null	Het

Other mutations in Or5w17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Or5w17	APN	2	87,584,278 (GRCm39)	missense	probably benign	0.00
IGL01412:Or5w17	APN	2	87,583,461 (GRCm39)	missense	probably damaging	1.00
IGL01533:Or5w17	APN	2	87,583,412 (GRCm39)	missense	probably benign	0.01
IGL02455:Or5w17	APN	2	87,583,927 (GRCm39)	missense	possibly damaging	0.95
IGL02698:Or5w17	APN	2	87,584,188 (GRCm39)	nonsense	probably null
PIT4480001:Or5w17	UTSW	2	87,584,127 (GRCm39)	missense	possibly damaging	0.95
R1542:Or5w17	UTSW	2	87,583,662 (GRCm39)	missense	probably damaging	0.99
R1750:Or5w17	UTSW	2	87,583,530 (GRCm39)	missense	probably damaging	0.97
R1844:Or5w17	UTSW	2	87,584,334 (GRCm39)	start codon destroyed	probably null	1.00
R2248:Or5w17	UTSW	2	87,584,287 (GRCm39)	missense	probably null	0.05
R4064:Or5w17	UTSW	2	87,584,133 (GRCm39)	missense	probably damaging	1.00
R5193:Or5w17	UTSW	2	87,583,448 (GRCm39)	missense	possibly damaging	0.59
R5861:Or5w17	UTSW	2	87,583,922 (GRCm39)	missense	probably benign	0.01
R6146:Or5w17	UTSW	2	87,583,602 (GRCm39)	missense	probably damaging	1.00
R6197:Or5w17	UTSW	2	87,583,696 (GRCm39)	missense	probably benign	0.15
R6481:Or5w17	UTSW	2	87,583,812 (GRCm39)	missense	probably damaging	1.00
R6857:Or5w17	UTSW	2	87,583,831 (GRCm39)	missense	probably damaging	1.00
R6904:Or5w17	UTSW	2	87,584,223 (GRCm39)	missense	probably benign	0.00
R6962:Or5w17	UTSW	2	87,584,071 (GRCm39)	missense	probably benign
R7014:Or5w17	UTSW	2	87,584,215 (GRCm39)	missense	probably benign	0.00
R8229:Or5w17	UTSW	2	87,583,408 (GRCm39)	missense	probably benign	0.00
R8723:Or5w17	UTSW	2	87,583,501 (GRCm39)	missense	possibly damaging	0.69
R8883:Or5w17	UTSW	2	87,583,838 (GRCm39)	missense	probably damaging	1.00
R9129:Or5w17	UTSW	2	87,584,048 (GRCm39)	missense	probably benign	0.00
R9587:Or5w17	UTSW	2	87,584,184 (GRCm39)	missense	possibly damaging	0.79
R9665:Or5w17	UTSW	2	87,583,671 (GRCm39)	missense	probably damaging	0.97
T0722:Or5w17	UTSW	2	87,583,467 (GRCm39)	missense	probably damaging	1.00
Z1177:Or5w17	UTSW	2	87,583,534 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TCCCTTGGCAGAATGGATTTTCAAGAC -3'
(R):5'- ACAGCTCCAAACACCAATGTACTTCTTT -3'

Sequencing Primer
(F):5'- GACAAGGACTTCTGAAATAGTGCTC -3'
(R):5'- CAAACACCAATGTACTTCTTTCTCAG -3'

Posted On

2013-06-12