Mutagenetix > Incidental Mutation

Incidental Mutation 'R2165:Olfr347'

235397

Institutional Source

Beutler Lab

Gene Symbol

Olfr347

Ensembl Gene

ENSMUSG00000111863

Gene Name

olfactory receptor 347

Synonyms

GA_x6K02T2NLDC-33428755-33429693, MOR136-9

MMRRC Submission

040168-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R2165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36731902-36737640 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36734701 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 127 (C127S)

Ref Sequence

ENSEMBL: ENSMUSP00000151158 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078761] [ENSMUST00000216882]

AlphaFold

Q8VGK2

Predicted Effect

probably damaging
Transcript: ENSMUST00000078761
AA Change: C127S

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000077819
Gene: ENSMUSG00000111863
AA Change: C127S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	4.2e-58	PFAM
Pfam:7TM_GPCR_Srsx	35	305	1.3e-5	PFAM
Pfam:7tm_1	41	290	1.9e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216882
AA Change: C127S

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Meta Mutation Damage Score

0.4373

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

99% (71/72)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 122,112,399	T806A	possibly damaging	Het
Adgre1	T	G	17: 57,419,338	L403R	probably damaging	Het
AF067061	A	T	13: 120,264,097	Q99L	probably damaging	Het
Alox12	A	T	11: 70,242,572		probably null	Het
Ankib1	A	T	5: 3,713,210	D506E	possibly damaging	Het
Ascc3	T	G	10: 50,721,839	Y1268D	probably damaging	Het
Bik	A	G	15: 83,541,423	M42V	probably benign	Het
Bola1	A	T	3: 96,197,201	S26T	probably benign	Het
Bub1	T	C	2: 127,801,281	I1048V	probably benign	Het
Cad	A	G	5: 31,062,220	N621S	probably damaging	Het
Camkv	C	A	9: 107,945,600	N69K	possibly damaging	Het
Ccdc110	T	C	8: 45,942,839	M589T	probably benign	Het
Ccdc154	T	A	17: 25,170,890	V498E	probably damaging	Het
Ccr1l1	A	G	9: 123,977,654	L252P	probably damaging	Het
Cdh1	T	C	8: 106,664,321	C690R	probably damaging	Het
Cfap157	T	G	2: 32,778,163		probably null	Het
Cux2	A	G	5: 121,887,477	S43P	possibly damaging	Het
Cyb5rl	C	T	4: 107,068,683	P21S	probably damaging	Het
Cyp51	T	G	5: 4,086,594	Q400P	probably damaging	Het
Dnah7b	T	C	1: 46,097,992		probably benign	Het
Ephb4	A	G	5: 137,354,426	I90M	probably benign	Het
Fam13c	A	G	10: 70,542,693	N269S	probably damaging	Het
Fam83c	T	A	2: 155,831,524	Y248F	possibly damaging	Het
Fat2	A	G	11: 55,303,716	F1166L	probably benign	Het
Fem1a	A	G	17: 56,257,686	N260D	probably benign	Het
Fnbp4	T	A	2: 90,767,399		probably null	Het
Fut9	T	A	4: 25,619,733	*360Y	probably null	Het
Fut9	T	A	4: 25,619,734	*360L	probably null	Het
Gm11639	G	A	11: 104,751,862	V1104I	possibly damaging	Het
Gm3727	T	A	14: 7,264,625	Q10L	probably damaging	Het
Gpat2	G	A	2: 127,428,291	V75M	probably damaging	Het
Haspin	A	C	11: 73,136,630	N544K	probably damaging	Het
Havcr1	A	G	11: 46,778,552	N286S	probably benign	Het
Lrp6	A	C	6: 134,459,283	C1307G	probably damaging	Het
Lrrc2	A	C	9: 110,979,577	H294P	possibly damaging	Het
Mon2	A	C	10: 123,042,364		probably null	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Mrgprb1	T	C	7: 48,447,322	I281V	probably benign	Het
Muc4	A	G	16: 32,750,476	E118G	probably damaging	Het
Nefh	T	C	11: 4,943,872	D394G	probably damaging	Het
Neurl4	A	G	11: 69,903,221	T168A	probably benign	Het
Olfr642	T	C	7: 104,049,638	T239A	probably benign	Het
Olfr982	A	G	9: 40,074,915	N207D	possibly damaging	Het
Olfr987	A	T	2: 85,331,102	N265K	probably benign	Het
Oxsr1	A	C	9: 119,294,432	M92R	probably damaging	Het
Pde8a	T	C	7: 81,295,768		probably null	Het
Pex5l	T	A	3: 32,953,132		probably null	Het
Pik3r4	T	A	9: 105,672,785	M1025K	probably benign	Het
Plch1	C	T	3: 63,698,482	E1325K	probably benign	Het
Plin2	A	T	4: 86,668,432	V54E	probably damaging	Het
Pqlc3	G	A	12: 16,989,839	L192F	probably damaging	Het
Prss47	A	T	13: 65,045,073	I298N	probably damaging	Het
Prune2	A	G	19: 17,120,182	R1017G	probably benign	Het
Psg19	T	A	7: 18,796,986	Y81F	possibly damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rrnad1	A	T	3: 87,927,053		probably null	Het
Serpinb1a	T	C	13: 32,850,414		probably benign	Het
Sh3pxd2a	A	T	19: 47,278,355	V265E	probably damaging	Het
Slc22a17	A	T	14: 54,908,825	Y337*	probably null	Het
Slc25a27	A	G	17: 43,657,772	V138A	probably benign	Het
Slc4a2	A	G	5: 24,431,316	Y220C	probably damaging	Het
Stab1	A	T	14: 31,168,435	S20T	probably benign	Het
Thsd1	G	T	8: 22,238,522		probably benign	Het
Tmem204	G	A	17: 25,080,592		probably benign	Het
Tom1l1	A	G	11: 90,649,895		probably benign	Het
Toporsl	T	A	4: 52,612,072	F655Y	possibly damaging	Het
Vmn2r98	A	G	17: 19,081,291	K852E	unknown	Het
Wdpcp	T	G	11: 21,691,884	L174R	probably damaging	Het
Zbbx	G	A	3: 75,112,107	P99S	probably damaging	Het
Zfhx4	C	T	3: 5,403,358	P2859S	probably benign	Het
Zfp600	A	T	4: 146,196,918	R719*	probably null	Het
Zfp697	C	A	3: 98,428,014	A365E	unknown	Het
Zfp957	A	C	14: 79,213,613	S249A	probably benign	Het

Other mutations in Olfr347

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02190:Olfr347	APN	2	36734579	missense	probably benign	0.03
IGL02417:Olfr347	APN	2	36734344	missense	probably benign	0.13
IGL02488:Olfr347	APN	2	36734350	missense	probably benign	0.36
IGL02878:Olfr347	APN	2	36734477	missense	probably damaging	1.00
IGL03354:Olfr347	APN	2	36734512	missense	possibly damaging	0.87
IGL03354:Olfr347	APN	2	36734513	missense	possibly damaging	0.89
PIT4403001:Olfr347	UTSW	2	36734918	missense	probably damaging	0.99
R0091:Olfr347	UTSW	2	36734905	missense	probably damaging	1.00
R0107:Olfr347	UTSW	2	36734718	nonsense	probably null
R0457:Olfr347	UTSW	2	36734533	missense	probably benign	0.18
R0563:Olfr347	UTSW	2	36735001	nonsense	probably null
R1205:Olfr347	UTSW	2	36734755	missense	probably benign	0.16
R1599:Olfr347	UTSW	2	36734989	missense	probably benign	0.01
R1668:Olfr347	UTSW	2	36735192	nonsense	probably null
R1845:Olfr347	UTSW	2	36734842	missense	probably damaging	0.99
R1856:Olfr347	UTSW	2	36734345	missense	probably benign
R4399:Olfr347	UTSW	2	36735230	missense	probably benign	0.00
R4657:Olfr347	UTSW	2	36734403	nonsense	probably null
R4684:Olfr347	UTSW	2	36734674	missense	probably damaging	1.00
R4767:Olfr347	UTSW	2	36734323	start codon destroyed	probably benign	0.02
R4988:Olfr347	UTSW	2	36734984	missense	possibly damaging	0.94
R5058:Olfr347	UTSW	2	36734999	missense	possibly damaging	0.52
R5103:Olfr347	UTSW	2	36734668	missense	probably benign	0.23
R5140:Olfr347	UTSW	2	36734498	missense	possibly damaging	0.59
R5587:Olfr347	UTSW	2	36734621	missense	probably damaging	1.00
R5591:Olfr347	UTSW	2	36735232	missense	probably benign
R6738:Olfr347	UTSW	2	36734432	missense	probably benign	0.26
R7097:Olfr347	UTSW	2	36734424	missense	probably benign	0.02
R7122:Olfr347	UTSW	2	36734424	missense	probably benign	0.02
R7330:Olfr347	UTSW	2	36735045	nonsense	probably null
R7485:Olfr347	UTSW	2	36734638	missense	probably benign	0.01
R7792:Olfr347	UTSW	2	36734330	missense	probably benign	0.01
R7812:Olfr347	UTSW	2	36734725	missense	probably benign
R8303:Olfr347	UTSW	2	36734455	missense	probably damaging	1.00
R8824:Olfr347	UTSW	2	36735191	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCATCAGGCTGGACTCTCAC -3'
(R):5'- GCTTCAGCAAGGTAGACAGG -3'

Sequencing Primer
(F):5'- AGTCACTTGGCTTTCACAGAC -3'
(R):5'- TTCAGCAAGGTAGACAGGTCACAG -3'

Posted On

2014-10-01