Mutagenetix > Incidental Mutation

Incidental Mutation 'R7762:Olfr348'

597910

Institutional Source

Beutler Lab

Gene Symbol

Olfr348

Ensembl Gene

ENSMUSG00000049315

Gene Name

olfactory receptor 348

Synonyms

GA_x6K02T2NLDC-33481050-33481991, MOR136-8

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R7762 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36784276-36789998 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36787010 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 162 (I162F)

Ref Sequence

ENSEMBL: ENSMUSP00000151006 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056865] [ENSMUST00000213498] [ENSMUST00000214909] [ENSMUST00000215199] [ENSMUST00000216753] [ENSMUST00000217041]

AlphaFold

Q8VGK3

Predicted Effect

probably benign
Transcript: ENSMUST00000056865
AA Change: I162F

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000054037
Gene: ENSMUSG00000049315
AA Change: I162F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	309	1.3e-56	PFAM
Pfam:7TM_GPCR_Srsx	36	306	3e-6	PFAM
Pfam:7tm_1	42	291	2.7e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213498
AA Change: I162F

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000214909
AA Change: I162F

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000215199
AA Change: I162F

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000216753

Predicted Effect

probably benign
Transcript: ENSMUST00000217041

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (79/79)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	G	A	6: 48,932,686	V622I	probably benign	Het
9130011E15Rik	A	G	19: 45,940,443		probably null	Het
Acod1	T	G	14: 103,051,340	D95E	probably damaging	Het
Agpat4	A	G	17: 12,210,322	T154A	possibly damaging	Het
Ahnak2	A	T	12: 112,775,680	S653T	probably benign	Het
Aox2	C	T	1: 58,349,104	P1124S	probably damaging	Het
Atp4a	T	C	7: 30,720,036	I637T	probably damaging	Het
Atxn7	T	A	14: 14,100,467	C718S	probably damaging	Het
Btbd2	T	A	10: 80,643,556	I516F	probably damaging	Het
Card6	A	G	15: 5,105,338	S128P	probably benign	Het
Cat	T	C	2: 103,456,858	K476E	probably benign	Het
Ccr9	A	T	9: 123,779,957	T235S	probably benign	Het
Cep55	T	G	19: 38,069,069		probably null	Het
Clec2e	A	G	6: 129,095,128	F96S	possibly damaging	Het
Clk2	G	A	3: 89,167,191	V53I	probably benign	Het
Clnk	T	C	5: 38,768,141	M106V	probably benign	Het
Col6a5	T	C	9: 105,931,324	I842V	unknown	Het
Csf1r	A	T	18: 61,110,500	N196I	probably benign	Het
D5Ertd579e	A	T	5: 36,613,381	N116K		Het
Dnaja4	A	G	9: 54,709,210	I166V	probably benign	Het
Dqx1	A	G	6: 83,061,032	E467G	probably damaging	Het
Dync2h1	T	C	9: 7,129,719	T1760A	probably benign	Het
Eea1	T	C	10: 96,028,439	V940A	probably benign	Het
Egr1	T	A	18: 34,863,545	V460E	probably damaging	Het
Eral1	A	G	11: 78,074,533	I352T	possibly damaging	Het
F2	T	C	2: 91,628,696	H476R	possibly damaging	Het
Fam83b	A	G	9: 76,492,432	V463A	possibly damaging	Het
Fat1	T	C	8: 45,023,322	S1802P	probably damaging	Het
Fat1	T	A	8: 45,037,337	L3762H	probably damaging	Het
Fibp	A	T	19: 5,464,174	N296Y	probably benign	Het
Figla	A	G	6: 86,017,326	M28V	probably benign	Het
Foxd3	C	A	4: 99,657,125	Y167*	probably null	Het
Gm17019	T	A	5: 15,030,992	H145L	probably benign	Het
Gm340	T	C	19: 41,583,667	L287S	probably benign	Het
Gm48552	C	T	10: 81,390,435	P18L	probably damaging	Het
Gm9573	G	A	17: 35,622,085	T403I	unknown	Het
H2-Q6	A	G	17: 35,428,101	N283S	probably benign	Het
Hrh2	T	A	13: 54,214,039	C11*	probably null	Het
Hrnr	G	T	3: 93,332,199	G3248V	unknown	Het
Iapp	C	A	6: 142,303,396	N58K	possibly damaging	Het
Itga5	T	C	15: 103,349,757	N837S	probably benign	Het
Klhl35	C	A	7: 99,468,440	H64N	probably benign	Het
Lrba	T	A	3: 86,532,201	V2015E	probably damaging	Het
Mdn1	T	C	4: 32,734,421	I3276T	probably benign	Het
Mlh3	G	T	12: 85,268,284	T376K	possibly damaging	Het
Nbea	A	T	3: 55,649,705	H2550Q	probably damaging	Het
Nid1	G	A	13: 13,489,045	G763D	probably damaging	Het
Ntf5	C	A	7: 45,415,819	A125E	probably damaging	Het
Obsl1	A	T	1: 75,503,523	C460S	probably benign	Het
Olfr1272	T	A	2: 90,296,631	K77*	probably null	Het
Olfr130	G	A	17: 38,067,675	C168Y	probably damaging	Het
Olfr1380	T	A	11: 49,564,761	I280N	possibly damaging	Het
Olfr1496	A	T	19: 13,781,286	R223W	probably damaging	Het
Olfr820	A	G	10: 130,017,181		probably benign	Het
Olfr933	G	A	9: 38,976,194	V173I	probably benign	Het
Orai3	G	A	7: 127,773,571	G130S	unknown	Het
Pcdhb12	T	G	18: 37,435,924	V41G	probably damaging	Het
Plec	A	T	15: 76,183,623	L1194Q	unknown	Het
Pml	C	A	9: 58,220,173	C763F	probably damaging	Het
Prdm15	T	A	16: 97,818,273	I318F	probably benign	Het
Rcbtb2	C	A	14: 73,178,466	T473N	probably benign	Het
Sbno1	T	A	5: 124,374,666	I1347F	probably benign	Het
Secisbp2l	C	T	2: 125,768,193	D269N	probably damaging	Het
Serpina9	A	T	12: 104,001,316	F273L	probably damaging	Het
Sgms2	T	A	3: 131,323,249	Y319F	probably benign	Het
Sgo2b	A	T	8: 63,926,497	H1100Q	probably benign	Het
Sh3bp5l	A	T	11: 58,345,928		probably null	Het
Shh	T	G	5: 28,466,666	K33T	probably benign	Het
Slc5a9	A	G	4: 111,890,174	Y339H	probably damaging	Het
Spice1	T	A	16: 44,370,501		probably null	Het
Tbx2	A	G	11: 85,835,901	E257G	probably damaging	Het
Tenm2	G	A	11: 36,023,306	T2468I	possibly damaging	Het
Tmeff2	A	T	1: 50,979,416	N186Y	probably benign	Het
Tmem132c	T	C	5: 127,554,696	V673A	possibly damaging	Het
Trappc11	G	T	8: 47,522,376	T269K	probably damaging	Het
Trpc6	T	C	9: 8,653,149	F652S	possibly damaging	Het
Trpv1	G	T	11: 73,254,222	K711N	probably benign	Het
Vcan	G	T	13: 89,692,937	P1496Q	probably damaging	Het
Vmn1r192	G	T	13: 22,187,675	A125E	probably damaging	Het
Vti1b	A	T	12: 79,164,946		probably null	Het
Vwa3b	A	C	1: 37,124,045	D583A	probably damaging	Het
Zfp638	T	C	6: 83,976,272	S1120P	probably damaging	Het
Zfyve26	A	T	12: 79,268,635	F1356I	probably benign	Het

Other mutations in Olfr348

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01388:Olfr348	APN	2	36787355	missense	probably benign	0.03
IGL01943:Olfr348	APN	2	36787083	missense	probably benign	0.13
IGL02030:Olfr348	APN	2	36787398	missense	probably damaging	1.00
IGL02338:Olfr348	APN	2	36786545	nonsense	probably null
IGL02349:Olfr348	APN	2	36787046	missense	possibly damaging	0.95
IGL02695:Olfr348	APN	2	36787320	missense	possibly damaging	0.72
IGL03004:Olfr348	APN	2	36787182	missense	probably damaging	1.00
IGL03007:Olfr348	APN	2	36786800	missense	probably damaging	0.99
IGL03024:Olfr348	APN	2	36786846	missense	possibly damaging	0.55
R0360:Olfr348	UTSW	2	36787440	missense	probably benign	0.03
R0388:Olfr348	UTSW	2	36786862	missense	probably benign	0.43
R0614:Olfr348	UTSW	2	36786693	missense	probably damaging	1.00
R1498:Olfr348	UTSW	2	36787346	missense	probably damaging	1.00
R1562:Olfr348	UTSW	2	36786684	missense	probably damaging	1.00
R2882:Olfr348	UTSW	2	36787190	missense	probably damaging	1.00
R3731:Olfr348	UTSW	2	36786566	missense	possibly damaging	0.53
R4513:Olfr348	UTSW	2	36786770	missense	probably benign	0.05
R4899:Olfr348	UTSW	2	36786798	missense	probably benign	0.04
R5005:Olfr348	UTSW	2	36787358	missense	probably benign
R5035:Olfr348	UTSW	2	36786891	missense	probably damaging	1.00
R5490:Olfr348	UTSW	2	36787181	missense	probably damaging	1.00
R6361:Olfr348	UTSW	2	36786780	missense	probably damaging	1.00
R8109:Olfr348	UTSW	2	36786606	missense	probably benign	0.00
R8223:Olfr348	UTSW	2	36787397	missense
R8826:Olfr348	UTSW	2	36786843	nonsense	probably null
R8906:Olfr348	UTSW	2	36786609	missense	probably benign	0.01
R9138:Olfr348	UTSW	2	36786690	missense	probably benign	0.00
R9147:Olfr348	UTSW	2	36786926	missense	probably benign	0.01
R9148:Olfr348	UTSW	2	36786926	missense	probably benign	0.01
R9267:Olfr348	UTSW	2	36786518	unclassified	probably benign
R9306:Olfr348	UTSW	2	36787395	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCATCTCATATGCCGGGTG -3'
(R):5'- TGGCTCCAATGCGTCCATATG -3'

Sequencing Primer
(F):5'- CGGGTGCATTTCCCAGGTG -3'
(R):5'- TGCGTCCATATGAAACCAGAATG -3'

Posted On

2019-11-26