Mutagenetix > Incidental Mutations

Incidental Mutation 'R3110:Olfr1338'

263813

Institutional Source

Beutler Lab

Gene Symbol

Olfr1338

Ensembl Gene

ENSMUSG00000095218

Gene Name

olfactory receptor 1338

Synonyms

MOR259-9, GA_x6K02T2QD9B-18795136-18796077, MOR259-4P, MOR259-4P, Olfr1524-ps1

MMRRC Submission

040584-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.728) question?

Stock #

R3110 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118751975-118758737 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118754224 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 105 (F105I)

Ref Sequence

ENSEMBL: ENSMUSP00000092427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084315] [ENSMUST00000214922] [ENSMUST00000216559]

AlphaFold

A0A1L1SSB4

Predicted Effect

probably damaging
Transcript: ENSMUST00000084315
AA Change: F105I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092427
Gene: ENSMUSG00000095218
AA Change: F105I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	3.3e-55	PFAM
Pfam:7TM_GPCR_Srsx	36	306	1e-8	PFAM
Pfam:7tm_1	42	291	1.8e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214922
AA Change: F107I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216559
AA Change: F107I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (51/52)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	G	2: 111,228,054	L131F	probably damaging	Het
Abca6	T	A	11: 110,178,829	K1554*	probably null	Het
Acads	T	C	5: 115,117,698	H26R	probably benign	Het
Acer1	G	A	17: 56,958,406	T141I	probably damaging	Het
Adam15	C	G	3: 89,347,457	V99L	probably benign	Het
Ankrd13b	A	G	11: 77,477,505	V97A	possibly damaging	Het
Anpep	T	C	7: 79,841,972	T94A	probably benign	Het
Atp1a3	T	C	7: 24,994,694	N345S	probably damaging	Het
Btn1a1	T	A	13: 23,461,551	N216I	possibly damaging	Het
Cacna1s	G	A	1: 136,075,093	W62*	probably null	Het
Ccdc141	C	T	2: 77,039,486	V892I	probably benign	Het
Ccdc180	T	A	4: 45,900,470	I278K	possibly damaging	Het
Cdc7	T	G	5: 106,974,698		probably null	Het
Cpb1	C	T	3: 20,265,357	V188M	probably damaging	Het
Dock5	A	G	14: 67,857,922	I101T	possibly damaging	Het
Dqx1	T	C	6: 83,058,972	V95A	probably damaging	Het
Dvl1	T	A	4: 155,853,666	D90E	probably damaging	Het
Ebf1	T	A	11: 44,643,398		probably benign	Het
Fam135b	T	C	15: 71,464,030	I438M	probably benign	Het
Fam57a	A	G	11: 76,202,231	D33G	probably benign	Het
Fpr1	A	T	17: 17,876,635	M364K	probably benign	Het
Gm14139	C	G	2: 150,192,221	P185R	probably damaging	Het
Gm7030	T	C	17: 36,129,146	Y32C	probably damaging	Het
Gm9932	A	T	5: 100,198,935		unknown	Het
Gpat4	G	A	8: 23,180,155	P286L	probably damaging	Het
Gpx7	C	A	4: 108,403,273	V109F	probably damaging	Het
Grhl2	T	C	15: 37,336,347		probably null	Het
Grn	A	G	11: 102,433,243	T53A	probably benign	Het
Hist1h1e	T	C	13: 23,621,846		probably benign	Het
Hmgxb3	T	C	18: 61,147,382	N683S	probably damaging	Het
Iigp1	T	C	18: 60,390,911	I367T	probably benign	Het
Itfg2	T	C	6: 128,411,669	E285G	probably damaging	Het
Itgav	T	A	2: 83,792,571	C662*	probably null	Het
Jarid2	T	A	13: 44,906,276	N661K	probably damaging	Het
Jmjd1c	T	A	10: 67,240,084		probably benign	Het
Lipe	T	C	7: 25,398,423	T32A	probably benign	Het
Lrrk2	A	G	15: 91,814,695	Y2475C	probably benign	Het
Mcc	T	C	18: 44,449,263	D607G	probably damaging	Het
Mip	T	A	10: 128,226,006	L42*	probably null	Het
Mlc1	A	T	15: 88,965,996	D192E	probably benign	Het
Muc2	T	C	7: 141,745,488		probably benign	Het
Mybl1	T	C	1: 9,681,870	D260G	probably damaging	Het
Ncln	C	T	10: 81,487,685	V51I	probably benign	Het
Nlrp9a	T	C	7: 26,557,872	V305A	probably benign	Het
Nodal	G	A	10: 61,424,497	R309Q	possibly damaging	Het
Olfr294	T	C	7: 86,615,676	Y323C	probably benign	Het
Olfr536	A	G	7: 140,503,919	I180T	probably damaging	Het
Olr1	T	C	6: 129,499,918	N128S	possibly damaging	Het
Orc1	T	A	4: 108,604,560	C585S	probably benign	Het
Pcmtd2	A	T	2: 181,855,129	I300F	probably damaging	Het
Phactr3	T	A	2: 178,279,017	L180Q	possibly damaging	Het
Pigo	T	C	4: 43,021,083	T612A	probably benign	Het
Plch1	T	A	3: 63,709,531	D766V	probably damaging	Het
Plekhh3	T	C	11: 101,164,147		probably benign	Het
Ppp1r12b	T	A	1: 134,872,832	T547S	probably damaging	Het
Prkcb	T	A	7: 122,516,856	M186K	probably damaging	Het
Prpf3	A	T	3: 95,849,800		probably benign	Het
Psg23	T	C	7: 18,610,444	D362G	possibly damaging	Het
Reg3a	T	C	6: 78,381,131	L15P	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Scrib	A	T	15: 76,069,374	I5N	probably damaging	Het
Speg	C	T	1: 75,422,682	Q2005*	probably null	Het
Sppl3	A	T	5: 115,074,864	S51C	possibly damaging	Het
Sspo	A	G	6: 48,457,600	T1009A	probably damaging	Het
Syce1l	A	G	8: 113,654,947	Q164R	probably benign	Het
Sympk	T	C	7: 19,034,484	V126A	possibly damaging	Het
Tas2r110	T	A	6: 132,868,024	I6K	unknown	Het
Tas2r120	A	T	6: 132,657,768	H271L	probably damaging	Het
Tnn	T	A	1: 160,116,286	T986S	possibly damaging	Het
Trim5	T	C	7: 104,279,638	H32R	probably damaging	Het
Ttc13	A	G	8: 124,683,834	I360T	possibly damaging	Het
Uaca	A	G	9: 60,871,499	E1054G	probably damaging	Het
Usp16	T	A	16: 87,471,848		probably null	Het
Wee1	T	A	7: 110,130,836	S382R	probably damaging	Het
Wnt11	T	C	7: 98,846,564	S92P	probably damaging	Het
Zfp786	A	G	6: 47,820,226	C593R	probably damaging	Het
Zfp879	T	G	11: 50,833,162	I283L	possibly damaging	Het

Other mutations in Olfr1338

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01092:Olfr1338	APN	4	118753762	missense	possibly damaging	0.78
IGL02726:Olfr1338	APN	4	118753764	missense	probably benign	0.00
IGL02928:Olfr1338	APN	4	118754500	missense	probably damaging	1.00
IGL03102:Olfr1338	APN	4	118753934	missense	probably benign	0.00
R0062:Olfr1338	UTSW	4	118753903	missense	probably benign	0.00
R0062:Olfr1338	UTSW	4	118753903	missense	probably benign	0.00
R0299:Olfr1338	UTSW	4	118754535	start codon destroyed	probably null	0.82
R0501:Olfr1338	UTSW	4	118753830	missense	probably benign	0.00
R1301:Olfr1338	UTSW	4	118753619	missense	probably benign
R1719:Olfr1338	UTSW	4	118753600	missense	possibly damaging	0.78
R2327:Olfr1338	UTSW	4	118754134	missense	probably benign	0.13
R3112:Olfr1338	UTSW	4	118754224	missense	probably damaging	0.99
R4582:Olfr1338	UTSW	4	118753893	missense	probably damaging	1.00
R4615:Olfr1338	UTSW	4	118754137	missense	probably benign	0.34
R5640:Olfr1338	UTSW	4	118753789	missense	probably benign	0.07
R6513:Olfr1338	UTSW	4	118754027	nonsense	probably null
R6889:Olfr1338	UTSW	4	118754307	missense	probably damaging	0.99
R7157:Olfr1338	UTSW	4	118754418	missense	possibly damaging	0.93
R7168:Olfr1338	UTSW	4	118753851	missense	probably damaging	0.98
R7378:Olfr1338	UTSW	4	118754175	missense	possibly damaging	0.74
R7451:Olfr1338	UTSW	4	118753687	missense	probably benign	0.03
R7770:Olfr1338	UTSW	4	118754057	missense	probably benign	0.04
R7847:Olfr1338	UTSW	4	118754368	missense	possibly damaging	0.79
R8839:Olfr1338	UTSW	4	118754214	missense	probably damaging	0.99
R8942:Olfr1338	UTSW	4	118754397	missense	possibly damaging	0.94
R9274:Olfr1338	UTSW	4	118753686	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGAAATAGTGGTCAACCCTTTTGG -3'
(R):5'- TCATCATGCTGGTCTGCCTG -3'

Sequencing Primer
(F):5'- CCACAATATGGCAGACTCATGGTG -3'
(R):5'- TGGTCTGCCTGGACACACAG -3'

Posted On

2015-02-05