Mutagenetix > Incidental Mutation

Incidental Mutation 'R0501:Olfr1338'

47104

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

038696-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.579) question?

Stock #

R0501 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118751975-118758737 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 118753830 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 238 (C238F)

Ref Sequence

ENSEMBL: ENSMUSP00000149843 (fasta)

Gene Model

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

AlphaFold

A0A1L1SSB4

Predicted Effect

probably benign
Transcript: ENSMUST00000084315
AA Change: C236F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000092427
Gene: ENSMUSG00000095218
AA Change: C236F

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 benign
Transcript: ENSMUST00000214922
AA Change: C238F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000216559
AA Change: C238F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.2%

Validation Efficiency

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 72,455,372	S415P	probably benign	Het
Adam19	C	T	11: 46,123,130	P316S	probably damaging	Het
Adamts2	A	G	11: 50,668,145	D229G	probably benign	Het
Adcy10	C	T	1: 165,510,390	P191L	probably damaging	Het
Adgrv1	T	C	13: 81,559,150	Y1379C	probably damaging	Het
Akap9	T	C	5: 3,970,685	L1132P	probably damaging	Het
Aoah	A	G	13: 21,005,073	T489A	probably benign	Het
Apc2	T	C	10: 80,315,124	L1975P	probably damaging	Het
Bpifa5	A	T	2: 154,163,696	D66V	probably benign	Het
C230029F24Rik	T	C	1: 49,335,470		noncoding transcript	Het
Cacna1h	A	T	17: 25,388,667	V892E	probably damaging	Het
Car4	G	A	11: 84,963,442	V72I	probably benign	Het
Chst3	A	G	10: 60,186,227	L266P	probably damaging	Het
Ckap2l	G	A	2: 129,285,491	R256W	possibly damaging	Het
Cntn4	A	T	6: 106,618,335	D471V	probably damaging	Het
Cntrob	G	A	11: 69,322,868	S32F	probably damaging	Het
Cpne7	T	A	8: 123,126,255	N200K	possibly damaging	Het
Creb3l3	C	A	10: 81,086,582	M271I	probably benign	Het
Csmd1	T	A	8: 17,027,323	Q106L	probably damaging	Het
D7Ertd443e	G	A	7: 134,294,972	T563I	probably damaging	Het
Dmac1	T	G	4: 75,278,176	N26H	unknown	Het
Dopey2	T	C	16: 93,752,862	F230L	probably benign	Het
Dpp6	T	A	5: 27,725,606	I812N	probably damaging	Het
Fabp12	T	C	3: 10,250,143	D48G	probably benign	Het
Fbn1	G	A	2: 125,301,749	T2820M	probably benign	Het
Fcho1	C	T	8: 71,712,560	A418T	probably benign	Het
Fcho2	A	T	13: 98,764,515	S277R	possibly damaging	Het
Fmo2	A	G	1: 162,876,928	S470P	probably benign	Het
Gm17541	T	G	12: 4,689,730		probably benign	Het
Gm4353	A	T	7: 116,083,471	Y292N	probably benign	Het
Igkv4-71	A	T	6: 69,243,306	I69N	probably damaging	Het
Insrr	G	T	3: 87,810,684	A871S	probably benign	Het
Irs2	C	T	8: 11,006,396	V679M	probably damaging	Het
Itpr3	T	A	17: 27,107,289	H1344Q	probably benign	Het
Kcnma1	T	C	14: 23,311,716	M1074V	possibly damaging	Het
Kif1a	G	A	1: 93,056,245	R602W	probably damaging	Het
Kif21b	A	T	1: 136,163,099	D1215V	probably benign	Het
Maats1	C	G	16: 38,335,635	M75I	probably damaging	Het
Mapk13	G	A	17: 28,776,353	V183M	probably damaging	Het
Mbp	C	T	18: 82,575,197	S100F	probably damaging	Het
Mcm6	A	G	1: 128,355,636	I44T	probably benign	Het
Ncor1	T	A	11: 62,373,322	D418V	possibly damaging	Het
Nid2	T	A	14: 19,789,668		probably null	Het
Nolc1	T	C	19: 46,078,920	V80A	probably damaging	Het
Olfr1024	A	G	2: 85,905,004	F17L	probably damaging	Het
Olfr1121	A	T	2: 87,371,552	R7W	probably damaging	Het
Olfr1162	A	T	2: 88,050,471	I51N	probably damaging	Het
Olfr1240	T	C	2: 89,439,716	T188A	probably benign	Het
Olfr1508	T	A	14: 52,463,926	M1L	possibly damaging	Het
Olfr3	A	T	2: 36,812,480	L204*	probably null	Het
Olfr70	A	C	4: 43,697,079	C31W	probably damaging	Het
Olfr700	G	A	7: 106,805,811	S217F	probably damaging	Het
Olfr705	A	T	7: 106,714,603	M26K	probably benign	Het
Olfr713	A	T	7: 107,036,232	T26S	probably benign	Het
Olfr855	T	A	9: 19,584,618	I27N	probably damaging	Het
Pcgf3	T	A	5: 108,475,112	C38S	probably damaging	Het
Pdia4	A	T	6: 47,801,002	V352E	probably damaging	Het
Pik3c2a	C	A	7: 116,354,055	V1202L	probably damaging	Het
Rbm15	G	T	3: 107,332,530	A184E	possibly damaging	Het
Rsph3a	T	A	17: 7,979,120	L442*	probably null	Het
Scg2	G	C	1: 79,435,603	L468V	probably damaging	Het
Sdk1	A	T	5: 141,937,718	I365L	probably benign	Het
Setdb1	A	G	3: 95,338,829	V595A	probably benign	Het
Slc22a22	T	A	15: 57,249,650	T398S	probably benign	Het
Stk11	C	A	10: 80,126,285	P217Q	probably damaging	Het
Tes	G	A	6: 17,097,558	D222N	probably benign	Het
Tmem132e	T	A	11: 82,435,068	I206N	possibly damaging	Het
Tmem214	G	T	5: 30,872,532	R251L	probably damaging	Het
Tmem253	T	A	14: 52,018,579	I105N	probably damaging	Het
Toe1	A	G	4: 116,807,485	V12A	probably benign	Het
Top1	C	A	2: 160,714,159	H513N	probably damaging	Het
Tph1	G	T	7: 46,649,988	Y376*	probably null	Het
Trim45	T	A	3: 100,923,219	L103Q	probably damaging	Het
Ttc37	A	C	13: 76,147,806	M1063L	probably benign	Het
Ttn	T	A	2: 76,944,174		probably null	Het
Twnk	T	C	19: 45,007,746	V206A	probably damaging	Het
Ube2z	A	G	11: 96,050,288	S343P	probably damaging	Het
Vmn2r8	T	C	5: 108,803,183	D132G	probably benign	Het
Wdr20rt	A	T	12: 65,225,807	T15S	probably benign	Het
Wdr59	C	T	8: 111,458,947	R841Q	possibly damaging	Het
Wdtc1	A	G	4: 133,308,840	F130L	possibly damaging	Het
Wnk1	C	T	6: 119,962,803	R43Q	probably damaging	Het
Ythdf3	T	C	3: 16,205,072	L461P	probably damaging	Het
Zcchc2	T	G	1: 106,016,091	F462C	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
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
R3110:Olfr1338	UTSW	4	118754224	missense	probably damaging	0.99
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'- TGGTTCACCAGTCCATCCTACCAAG -3'
(R):5'- GAAGGTCCTTCAGTGCGTAGTCTG -3'

Sequencing Primer
(F):5'- GAGAAATGCCCTCTTAATGTCC -3'
(R):5'- TGGCTTGCATGGATACCCAC -3'

Posted On

2013-06-12