Mutagenetix > Incidental Mutation

Incidental Mutation 'R2072:Olfr1260'

227197

Institutional Source

Beutler Lab

Gene Symbol

Olfr1260

Ensembl Gene

ENSMUSG00000042894

Gene Name

olfactory receptor 1260

Synonyms

GA_x6K02T2Q125-51409740-51410672, MOR232-2

MMRRC Submission

040077-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R2072 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89974340-89981586 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 89978213 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 145 (T145K)

Ref Sequence

ENSEMBL: ENSMUSP00000151110 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061830] [ENSMUST00000111512] [ENSMUST00000144710] [ENSMUST00000214630] [ENSMUST00000216678]

AlphaFold

Q8VGN9

Predicted Effect

probably benign
Transcript: ENSMUST00000061830
AA Change: T145K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000053523
Gene: ENSMUSG00000042894
AA Change: T145K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	2.7e-45	PFAM
Pfam:7tm_1	39	285	1.7e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111512
AA Change: T145K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000107137
Gene: ENSMUSG00000042894
AA Change: T145K

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	285	7.4e-27	PFAM
Pfam:7tm_4	137	278	2.4e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141685

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144613

Predicted Effect

probably benign
Transcript: ENSMUST00000144710
AA Change: T145K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000119512
Gene: ENSMUSG00000042894
AA Change: T145K

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	121	4.2e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213162

Predicted Effect

probably benign
Transcript: ENSMUST00000214630
AA Change: T145K

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000216678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216744

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	C	5: 63,898,737	R272P	possibly damaging	Het
9130011E15Rik	A	T	19: 45,965,381	I188K	probably damaging	Het
Ablim3	A	T	18: 61,857,088	D83E	possibly damaging	Het
Aco1	G	A	4: 40,183,605	G508S	probably damaging	Het
Adamts13	C	A	2: 27,005,425	T1176N	probably benign	Het
Adgre5	T	C	8: 83,727,804	T357A	probably benign	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Ankrd33	T	C	15: 101,119,636	V310A	probably benign	Het
Bnipl	C	T	3: 95,244,211	G232E	probably damaging	Het
Btbd17	A	T	11: 114,791,952		probably null	Het
Cacna1s	G	A	1: 136,079,504	V173I	probably benign	Het
Ccdc122	T	C	14: 77,068,951		probably null	Het
Ces1a	T	A	8: 93,048,075	N12Y	probably benign	Het
Chrdl1	T	C	X: 143,303,418	I231V	probably benign	Het
Ciita	C	T	16: 10,518,353	T958I	probably benign	Het
Cnot1	G	T	8: 95,739,833	T1592K	possibly damaging	Het
Dcaf15	T	C	8: 84,101,741	D240G	probably damaging	Het
Ddx58	A	T	4: 40,224,069		probably null	Het
Dlgap1	C	T	17: 70,662,770	R524C	probably damaging	Het
Dmd	G	C	X: 84,312,483	A2257P	probably benign	Het
Dsg1c	A	G	18: 20,275,252	M453V	probably benign	Het
Ednrb	G	T	14: 103,817,099	N432K	probably benign	Het
Fcgbp	G	A	7: 28,120,389	G2514S	probably damaging	Het
Fez1	A	G	9: 36,867,945	K306R	probably benign	Het
Fmo4	A	G	1: 162,809,887	V12A	probably benign	Het
Fpgt	T	C	3: 155,087,874	Y172C	probably damaging	Het
Fsip2	T	A	2: 83,008,815	F6976I	possibly damaging	Het
Galnt12	C	T	4: 47,108,477	R205*	probably null	Het
Grik5	A	T	7: 25,015,313	M752K	possibly damaging	Het
Herc2	A	G	7: 56,226,964	N4516S	probably damaging	Het
Ifrd2	A	T	9: 107,592,545	D439V	probably damaging	Het
Igsf3	A	G	3: 101,439,515	T609A	probably benign	Het
Kif5a	T	C	10: 127,245,369	D232G	probably damaging	Het
Lgi2	A	G	5: 52,538,505	S371P	probably damaging	Het
March3	A	T	18: 56,811,853	V56E	possibly damaging	Het
Mib2	T	C	4: 155,659,701	D168G	probably damaging	Het
Nhs	T	A	X: 161,842,721	H544L	probably damaging	Het
Nlrp2	A	G	7: 5,325,006	S683P	probably damaging	Het
Olfr1454	A	T	19: 13,063,680	M90L	probably benign	Het
Olfr527	T	C	7: 140,336,653	S264P	possibly damaging	Het
Onecut3	T	G	10: 80,495,014	L3V	unknown	Het
Otogl	C	T	10: 107,781,043	C1791Y	probably damaging	Het
Paip1	T	C	13: 119,430,262	V128A	possibly damaging	Het
Pcnx2	A	T	8: 125,761,742	C1688S	possibly damaging	Het
Pdzd2	A	G	15: 12,385,819	L955P	probably damaging	Het
Phlpp2	T	C	8: 109,928,492	S605P	possibly damaging	Het
Pkhd1l1	G	T	15: 44,558,639	A3102S	probably damaging	Het
Plxnb2	G	T	15: 89,158,451	R1545S	probably damaging	Het
Ppp4c	T	C	7: 126,787,348		probably null	Het
Prune1	C	T	3: 95,255,408	R318Q	probably benign	Het
Psg27	A	G	7: 18,565,009	L129P	probably benign	Het
Psg27	T	C	7: 18,560,417	D355G	probably damaging	Het
Psmc6	A	G	14: 45,329,866	K7E	possibly damaging	Het
Reln	A	T	5: 21,919,177	V2777E	probably damaging	Het
Scn11a	G	T	9: 119,811,208	A207E	possibly damaging	Het
Slc5a5	C	T	8: 70,892,439	G75R	possibly damaging	Het
Smarcd2	A	T	11: 106,265,307	L42*	probably null	Het
Smg1	T	C	7: 118,163,166		probably benign	Het
Smurf2	T	A	11: 106,841,769	Q335L	probably benign	Het
Sspo	A	T	6: 48,473,517	H2580L	probably benign	Het
Stk3	T	C	15: 34,959,049	M256V	possibly damaging	Het
Syt1	A	G	10: 108,583,972	I276T	probably damaging	Het
Syt10	C	T	15: 89,790,776	D456N	probably damaging	Het
Taar9	A	T	10: 24,108,979	C186S	probably damaging	Het
Tnrc6b	C	T	15: 80,882,965	P977L	possibly damaging	Het
Trp53bp2	A	G	1: 182,458,867	T1091A	probably benign	Het
Ttn	G	T	2: 76,937,776	T2947N	probably damaging	Het
Ube2q1	T	C	3: 89,779,571		probably null	Het
Ube3c	A	G	5: 29,635,640	E671G	probably benign	Het
Upf3a	A	G	8: 13,785,850	K56R	possibly damaging	Het
Vmn2r15	A	T	5: 109,286,753	M695K	possibly damaging	Het
Vmn2r3	A	T	3: 64,275,072	M402K	possibly damaging	Het
Zfp354b	T	A	11: 50,922,452	R549*	probably null	Het
Zfp37	A	T	4: 62,191,708	M411K	probably damaging	Het
Zfp747	T	A	7: 127,373,970	T343S	possibly damaging	Het
Zfp853	T	A	5: 143,289,382	Q161L	unknown	Het

Other mutations in Olfr1260

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Olfr1260	APN	2	89978539	missense	possibly damaging	0.69
IGL01657:Olfr1260	APN	2	89977877	missense	probably damaging	1.00
IGL01942:Olfr1260	APN	2	89977978	missense	probably benign	0.03
IGL02139:Olfr1260	APN	2	89978429	missense	possibly damaging	0.80
IGL02926:Olfr1260	APN	2	89978162	missense	probably damaging	1.00
IGL03110:Olfr1260	APN	2	89978149	missense	probably damaging	1.00
IGL03368:Olfr1260	APN	2	89977789	missense	probably benign
R0046:Olfr1260	UTSW	2	89978507	missense	probably damaging	1.00
R0046:Olfr1260	UTSW	2	89978507	missense	probably damaging	1.00
R0087:Olfr1260	UTSW	2	89978131	missense	probably damaging	1.00
R0599:Olfr1260	UTSW	2	89978201	missense	probably benign	0.01
R1208:Olfr1260	UTSW	2	89978492	missense	probably damaging	0.99
R1208:Olfr1260	UTSW	2	89978492	missense	probably damaging	0.99
R1424:Olfr1260	UTSW	2	89978071	nonsense	probably null
R1503:Olfr1260	UTSW	2	89978528	missense	probably damaging	0.99
R1708:Olfr1260	UTSW	2	89978038	missense	probably benign	0.00
R1863:Olfr1260	UTSW	2	89978410	missense	probably benign	0.02
R1866:Olfr1260	UTSW	2	89978327	missense	probably damaging	1.00
R2219:Olfr1260	UTSW	2	89977912	missense	possibly damaging	0.62
R4606:Olfr1260	UTSW	2	89978006	missense	possibly damaging	0.79
R4674:Olfr1260	UTSW	2	89977906	missense	possibly damaging	0.52
R4825:Olfr1260	UTSW	2	89978153	missense	probably damaging	1.00
R5822:Olfr1260	UTSW	2	89978443	missense	probably damaging	1.00
R6487:Olfr1260	UTSW	2	89977838	missense	probably benign	0.31
R6706:Olfr1260	UTSW	2	89978585	missense	probably damaging	0.96
R7961:Olfr1260	UTSW	2	89977787	missense	probably benign
R8812:Olfr1260	UTSW	2	89978371	missense	possibly damaging	0.94
R9504:Olfr1260	UTSW	2	89978153	missense	probably damaging	1.00
R9618:Olfr1260	UTSW	2	89977999	missense	probably benign	0.00
X0050:Olfr1260	UTSW	2	89978016	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TAGATGGCTGCTGCTCTTCC -3'
(R):5'- CTGTTGGCAGCAACAAAGAGTC -3'

Sequencing Primer
(F):5'- TGGCCCCCAAAATGATATTTGAC -3'
(R):5'- CCAAAGATGTGGTTGTCAGTGCAG -3'

Posted On

2014-09-17