Mutagenetix > Incidental Mutation

Incidental Mutation 'R1565:Olfr1342'

175184

Institutional Source

Beutler Lab

Gene Symbol

Olfr1342

Ensembl Gene

ENSMUSG00000043383

Gene Name

olfactory receptor 1342

Synonyms

GA_x6K02T2QD9B-18856980-18857927, MOR258-3

MMRRC Submission

039604-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R1565 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118687486-118692756 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118690192 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 87 (N87Y)

Ref Sequence

ENSEMBL: ENSMUSP00000149966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060562] [ENSMUST00000216226]

AlphaFold

Q8VFY3

Predicted Effect

probably damaging
Transcript: ENSMUST00000060562
AA Change: N87Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000053925
Gene: ENSMUSG00000043383
AA Change: N87Y

Domain	Start	End	E-Value	Type
low complexity region	10	24	N/A	INTRINSIC
Pfam:7tm_4	34	311	1.5e-55	PFAM
Pfam:7TM_GPCR_Srsx	38	243	1.6e-5	PFAM
Pfam:7tm_1	44	293	4.2e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216226
AA Change: N87Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.0%

Validation Efficiency

96% (82/85)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	G	A	11: 58,880,501 (GRCm38)	G270S	probably benign	Het
Abtb1	T	C	6: 88,836,554 (GRCm38)	T401A	probably benign	Het
Adamts14	A	T	10: 61,270,897 (GRCm38)	M148K	probably damaging	Het
Adcy5	A	G	16: 35,268,957 (GRCm38)	E508G	probably damaging	Het
Ankfy1	T	A	11: 72,757,318 (GRCm38)	L875H	probably damaging	Het
Cacng3	A	T	7: 122,768,401 (GRCm38)	D168V	probably damaging	Het
Clpb	G	A	7: 101,785,461 (GRCm38)	R488Q	probably benign	Het
Cpxm2	A	T	7: 132,062,145 (GRCm38)	Y350N	probably damaging	Het
D130040H23Rik	T	A	8: 69,303,160 (GRCm38)	*406R	probably null	Het
Dnah10	T	A	5: 124,829,614 (GRCm38)	D4236E	probably damaging	Het
Dpf3	T	A	12: 83,370,617 (GRCm38)	Y27F	probably damaging	Het
Esp4	T	C	17: 40,602,595 (GRCm38)	*118Q	probably null	Het
Fam222b	T	C	11: 78,154,662 (GRCm38)	S222P	possibly damaging	Het
Flnc	T	C	6: 29,455,171 (GRCm38)	V1933A	probably damaging	Het
Gem	T	C	4: 11,713,709 (GRCm38)	F282L	possibly damaging	Het
Gli2	T	C	1: 118,841,930 (GRCm38)	T631A	possibly damaging	Het
Gm13088	G	A	4: 143,655,617 (GRCm38)	Q170*	probably null	Het
Gpld1	T	A	13: 24,956,068 (GRCm38)	V116E	probably damaging	Het
Gpr176	A	G	2: 118,280,214 (GRCm38)	M188T	probably benign	Het
Grk5	T	C	19: 61,089,972 (GRCm38)	V489A	probably damaging	Het
H2-Ke6	C	T	17: 34,027,495 (GRCm38)	V105I	possibly damaging	Het
Hpdl	T	C	4: 116,820,883 (GRCm38)	N127S	probably damaging	Het
Id4	G	T	13: 48,262,294 (GRCm38)	V151L	possibly damaging	Het
Kcnh8	G	T	17: 52,956,881 (GRCm38)	G802V	probably benign	Het
Lamc1	C	A	1: 153,242,743 (GRCm38)	S894I	probably benign	Het
Larp1b	A	G	3: 40,972,384 (GRCm38)	N184S	probably damaging	Het
Lhx1	A	T	11: 84,519,821 (GRCm38)	S226T	probably benign	Het
Lmo7	A	T	14: 101,887,521 (GRCm38)	Q472L	probably damaging	Het
Mog	G	C	17: 37,017,582 (GRCm38)	N152K	possibly damaging	Het
Mttp	A	G	3: 138,116,405 (GRCm38)		probably null	Het
Mycbp2	A	G	14: 103,252,509 (GRCm38)	V953A	possibly damaging	Het
Myo3a	A	T	2: 22,340,280 (GRCm38)	Y509F	probably damaging	Het
Myo9b	A	G	8: 71,315,192 (GRCm38)	N303S	possibly damaging	Het
Nek3	T	C	8: 22,132,201 (GRCm38)		probably null	Het
Nlrc4	A	T	17: 74,441,931 (GRCm38)	D771E	probably benign	Het
Nup160	A	T	2: 90,722,061 (GRCm38)	N1127I	possibly damaging	Het
Oas1h	A	T	5: 120,862,600 (GRCm38)	N91I	probably damaging	Het
Olfr1225	A	T	2: 89,170,627 (GRCm38)	V195D	probably benign	Het
Olfr1226	G	T	2: 89,193,883 (GRCm38)	S50R	probably damaging	Het
Parp4	T	C	14: 56,589,872 (GRCm38)		probably benign	Het
Pi4ka	G	A	16: 17,281,900 (GRCm38)	C96Y	probably null	Het
Pira2	A	T	7: 3,844,549 (GRCm38)	F47Y	probably damaging	Het
Pkhd1	C	A	1: 20,347,457 (GRCm38)	G2490V	probably damaging	Het
Plekhg1	C	T	10: 3,940,526 (GRCm38)	T394I	probably damaging	Het
Psmd1	T	C	1: 86,091,997 (GRCm38)		probably benign	Het
Rab3ip	A	T	10: 116,939,223 (GRCm38)	C77S	probably benign	Het
Reln	A	T	5: 21,925,213 (GRCm38)	M2700K	probably benign	Het
Rfx1	A	G	8: 84,073,946 (GRCm38)	T59A	probably benign	Het
Ric8b	G	T	10: 84,980,099 (GRCm38)	V405L	probably benign	Het
Rufy3	G	T	5: 88,640,632 (GRCm38)	A479S	probably damaging	Het
Sardh	A	T	2: 27,242,719 (GRCm38)	Y166N	probably damaging	Het
Slamf6	T	G	1: 171,934,408 (GRCm38)	V132G	possibly damaging	Het
Slc12a3	T	G	8: 94,345,877 (GRCm38)	H674Q	possibly damaging	Het
Sned1	G	A	1: 93,281,654 (GRCm38)	V830M	possibly damaging	Het
Srsf9	A	G	5: 115,327,370 (GRCm38)	N21S	possibly damaging	Het
Stkld1	A	T	2: 26,950,090 (GRCm38)	T391S	probably benign	Het
Sumf2	C	A	5: 129,859,914 (GRCm38)	N230K	probably damaging	Het
Tbc1d22a	T	C	15: 86,235,569 (GRCm38)	V22A	possibly damaging	Het
Thsd7b	T	A	1: 129,596,041 (GRCm38)	S194T	possibly damaging	Het
Tmem27	A	G	X: 164,118,234 (GRCm38)	D184G	possibly damaging	Het
Tnn	T	A	1: 160,097,265 (GRCm38)	Y1173F	probably damaging	Het
Top2a	A	G	11: 99,001,054 (GRCm38)	F1122L	probably damaging	Het
Trappc9	G	A	15: 73,025,967 (GRCm38)	R377W	probably damaging	Het
Trim39	G	A	17: 36,268,854 (GRCm38)	R70W	probably damaging	Het
Ttn	G	A	2: 76,794,261 (GRCm38)	T15289I	probably damaging	Het
Ugt2b38	A	T	5: 87,411,914 (GRCm38)	V373E	probably damaging	Het
Usp54	A	G	14: 20,607,159 (GRCm38)	S24P	probably damaging	Het
Vmn2r27	C	T	6: 124,231,634 (GRCm38)	G51S	probably benign	Het
Xylt2	C	T	11: 94,667,594 (GRCm38)	A579T	probably benign	Het
Zbtb21	A	G	16: 97,952,427 (GRCm38)	S247P	probably benign	Het
Zc3h7b	C	T	15: 81,777,088 (GRCm38)	P376L	probably benign	Het
Zfp251	C	T	15: 76,853,039 (GRCm38)	R613K	possibly damaging	Het
Zfp251	T	A	15: 76,853,038 (GRCm38)	R613S	probably damaging	Het
Zfp91	T	C	19: 12,779,075 (GRCm38)	D135G	probably benign	Het

Other mutations in Olfr1342

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01823:Olfr1342	APN	4	118,689,721 (GRCm38)	missense	probably damaging	1.00
IGL02391:Olfr1342	APN	4	118,690,341 (GRCm38)	missense	probably damaging	1.00
R0648:Olfr1342	UTSW	4	118,690,072 (GRCm38)	missense	probably benign
R1675:Olfr1342	UTSW	4	118,689,948 (GRCm38)	missense	probably benign	0.00
R1823:Olfr1342	UTSW	4	118,690,192 (GRCm38)	missense	probably damaging	1.00
R2343:Olfr1342	UTSW	4	118,690,187 (GRCm38)	missense	probably benign	0.30
R4618:Olfr1342	UTSW	4	118,689,470 (GRCm38)	utr 3 prime	probably benign
R4941:Olfr1342	UTSW	4	118,689,892 (GRCm38)	missense	possibly damaging	0.76
R5408:Olfr1342	UTSW	4	118,690,444 (GRCm38)	missense	probably benign	0.00
R5587:Olfr1342	UTSW	4	118,689,870 (GRCm38)	missense	probably damaging	1.00
R5895:Olfr1342	UTSW	4	118,690,117 (GRCm38)	missense	probably damaging	0.97
R6023:Olfr1342	UTSW	4	118,690,074 (GRCm38)	missense	probably damaging	1.00
R6307:Olfr1342	UTSW	4	118,689,948 (GRCm38)	missense	probably benign	0.00
R6324:Olfr1342	UTSW	4	118,690,531 (GRCm38)	start gained	probably benign
R6890:Olfr1342	UTSW	4	118,689,531 (GRCm38)	missense	possibly damaging	0.72
R7218:Olfr1342	UTSW	4	118,690,018 (GRCm38)	missense	probably benign
R7408:Olfr1342	UTSW	4	118,689,662 (GRCm38)	missense	probably damaging	0.98
R7555:Olfr1342	UTSW	4	118,689,642 (GRCm38)	missense	possibly damaging	0.94
R7749:Olfr1342	UTSW	4	118,690,228 (GRCm38)	missense	probably damaging	1.00
R8098:Olfr1342	UTSW	4	118,690,209 (GRCm38)	missense	possibly damaging	0.88
R8493:Olfr1342	UTSW	4	118,690,032 (GRCm38)	missense	probably benign	0.01
R9445:Olfr1342	UTSW	4	118,690,219 (GRCm38)	missense	probably damaging	0.98
R9500:Olfr1342	UTSW	4	118,689,733 (GRCm38)	missense	possibly damaging	0.91
Z1176:Olfr1342	UTSW	4	118,690,272 (GRCm38)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- ATGGACCAGCAGACTGTGACCATC -3'
(R):5'- CATGCAGACCCTTAGGAAGGACAAC -3'

Sequencing Primer
(F):5'- GCAGACTGTGACCATCTTGATAC -3'
(R):5'- CGAATCCCAGGTCAGAGTG -3'

Posted On

2014-04-24