Mutagenetix > Incidental Mutations

Incidental Mutation 'R1698:Olfr1278'

192379

Institutional Source

Beutler Lab

Gene Symbol

Olfr1278

Ensembl Gene

ENSMUSG00000068647

Gene Name

olfactory receptor 1278

Synonyms

GA_x6K02T2Q125-72343713-72344654, MOR245-11

MMRRC Submission

039731-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R1698 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111290136-111298886 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 111292560 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 97 (C97*)

Ref Sequence

ENSEMBL: ENSMUSP00000150587 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090330] [ENSMUST00000213516] [ENSMUST00000213727] [ENSMUST00000214669] [ENSMUST00000215210] [ENSMUST00000216229]

AlphaFold

Q8VF39

Predicted Effect

probably null
Transcript: ENSMUST00000090330
AA Change: C97*

SMART Domains

Protein: ENSMUSP00000087802
Gene: ENSMUSG00000068647
AA Change: C97*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	306	2.3e-43	PFAM
Pfam:7TM_GPCR_Srsx	35	281	5.3e-6	PFAM
Pfam:7tm_1	41	288	1.1e-23	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000213516
AA Change: C97*

Predicted Effect

probably null
Transcript: ENSMUST00000213727
AA Change: C97*

Predicted Effect

probably null
Transcript: ENSMUST00000214669
AA Change: C97*

Predicted Effect

probably null
Transcript: ENSMUST00000215210
AA Change: C97*

Predicted Effect

probably null
Transcript: ENSMUST00000216229
AA Change: C97*

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	C	6: 121,645,158	E340A	possibly damaging	Het
Abca13	A	G	11: 9,314,507	D2963G	probably benign	Het
Actn3	T	C	19: 4,862,207	D783G	possibly damaging	Het
Adamtsl2	A	G	2: 27,103,127	E723G	possibly damaging	Het
Agrn	G	T	4: 156,166,558	Q1931K	probably benign	Het
Ankrd27	G	A	7: 35,614,521	A426T	probably benign	Het
Atg9b	C	A	5: 24,388,188	G406C	probably damaging	Het
BC005561	C	T	5: 104,520,510	A966V	probably benign	Het
C1ra	A	T	6: 124,522,766	Q637L	probably benign	Het
Cdhr2	A	T	13: 54,719,581	M438L	probably benign	Het
Cep350	T	C	1: 155,953,358	I267V	possibly damaging	Het
Chrna5	A	G	9: 55,004,642	Y138C	probably damaging	Het
Chst3	T	A	10: 60,185,703	M441L	probably benign	Het
Cmya5	G	A	13: 93,063,519	P3434S	probably benign	Het
Cog2	T	A	8: 124,525,683	L42Q	probably damaging	Het
Cpq	A	T	15: 33,250,126	I210F	probably benign	Het
Crnn	C	A	3: 93,148,458	Q184K	probably damaging	Het
Csnka2ip	A	T	16: 64,478,059	Y647*	probably null	Het
D5Ertd579e	C	T	5: 36,604,530	R1331H	probably benign	Het
Dennd5a	C	T	7: 109,917,380		probably null	Het
Dync1h1	A	G	12: 110,626,992	Q1231R	possibly damaging	Het
Erbin	T	A	13: 103,833,731	I1126F	possibly damaging	Het
Fastkd1	T	C	2: 69,702,469	D518G	probably benign	Het
Gcc1	A	G	6: 28,421,111	L69P	possibly damaging	Het
Gkn1	T	C	6: 87,347,169	Y119C	probably damaging	Het
Gmpr	T	G	13: 45,517,044	W81G	probably benign	Het
Gyg	T	A	3: 20,138,051	I236F	probably benign	Het
Hcrtr2	T	C	9: 76,246,453	Y219C	probably damaging	Het
Hmcn1	G	A	1: 150,565,369	Q5379*	probably null	Het
Kank1	T	C	19: 25,411,317	C785R	probably benign	Het
Lrp1b	A	T	2: 40,851,806	C3036*	probably null	Het
Mdga2	T	C	12: 66,689,335	D373G	probably damaging	Het
Mgat2	A	T	12: 69,185,719	I356F	probably benign	Het
Miga2	A	G	2: 30,377,997	D346G	probably damaging	Het
Mprip	T	A	11: 59,760,258	L1596Q	possibly damaging	Het
Mroh2b	G	A	15: 4,914,140	R386Q	probably benign	Het
Mst1r	T	A	9: 107,919,980	S1349R	probably benign	Het
Mtmr3	C	T	11: 4,492,825	R403H	possibly damaging	Het
Mycbpap	G	A	11: 94,508,143	Q460*	probably null	Het
Myo9a	T	C	9: 59,868,181	V1025A	probably benign	Het
Ncapd2	C	T	6: 125,168,590	E1365K	probably null	Het
Nkiras2	C	A	11: 100,625,163	D105E	probably damaging	Het
Nolc1	T	G	19: 46,081,431		probably null	Het
Nos1	T	C	5: 117,867,232	F6L	probably benign	Het
Olfr1112	G	T	2: 87,191,737	V17L	probably benign	Het
Olfr1369-ps1	C	T	13: 21,116,565	T291I	probably benign	Het
Olfr218	A	T	1: 173,203,371	N5I	probably damaging	Het
Olfr325	T	C	11: 58,581,251	Y136H	probably damaging	Het
Olfr910	T	A	9: 38,539,256	Y120*	probably null	Het
Pfkm	A	G	15: 98,128,318	E598G	possibly damaging	Het
Phf2	A	T	13: 48,807,630	D861E	unknown	Het
Polr2a	A	G	11: 69,739,877		probably null	Het
Popdc2	G	A	16: 38,369,491	V167M	probably damaging	Het
Ptpn22	T	C	3: 103,885,798	S422P	probably benign	Het
Rasa2	T	C	9: 96,568,375	K490R	possibly damaging	Het
Rbfox3	T	A	11: 118,495,221	D286V	probably damaging	Het
Rdh13	A	G	7: 4,427,791	W223R	probably damaging	Het
Riok3	T	C	18: 12,128,929	S7P	probably benign	Het
Rnaseh2b	A	G	14: 62,353,632	E144G	probably benign	Het
Rnf20	C	T	4: 49,651,498	Q655*	probably null	Het
Rpap2	T	C	5: 107,603,550	Y8H	probably damaging	Het
Slc5a10	T	C	11: 61,709,602	Y181C	probably benign	Het
Snd1	G	T	6: 28,888,253	G896*	probably null	Het
Spast	C	T	17: 74,356,160	Q158*	probably null	Het
Tas2r104	G	A	6: 131,685,584	S54F	probably damaging	Het
Tcaf2	C	T	6: 42,628,017	W611*	probably null	Het
Timp4	G	A	6: 115,250,403		probably null	Het
Tmem45a	G	A	16: 56,823,570	S72L	probably benign	Het
Tnrc18	T	C	5: 142,788,703	T124A	possibly damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Ttn	T	C	2: 76,942,915	D2381G	probably damaging	Het
Uevld	T	C	7: 46,955,624	T41A	possibly damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Unc5d	T	C	8: 28,696,478	E527G	probably damaging	Het
Vmn2r125	C	T	4: 156,351,038	T237I	probably benign	Het
Vmn2r63	A	C	7: 42,933,614	I59S	probably benign	Het
Vps72	G	A	3: 95,118,695	S106N	probably benign	Het
Zan	A	C	5: 137,409,669		probably benign	Het
Zbtb38	T	C	9: 96,685,462	K1190E	probably benign	Het
Zc3h6	T	C	2: 129,017,358	V1103A	probably benign	Het
Zfp407	G	A	18: 84,562,157	T277I	probably damaging	Het
Zfp804b	A	G	5: 6,769,509	S1149P	probably damaging	Het

Other mutations in Olfr1278

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01109:Olfr1278	APN	2	111292519	missense	probably benign	0.11
IGL02301:Olfr1278	APN	2	111292697	missense	probably benign	0.03
IGL02480:Olfr1278	APN	2	111292513	missense	possibly damaging	0.66
IGL03056:Olfr1278	APN	2	111293172	missense	possibly damaging	0.90
IGL03327:Olfr1278	APN	2	111292462	missense	probably damaging	1.00
R0284:Olfr1278	UTSW	2	111292586	missense	probably benign	0.34
R1614:Olfr1278	UTSW	2	111293066	missense	probably damaging	0.97
R1733:Olfr1278	UTSW	2	111292865	missense	probably damaging	0.98
R2265:Olfr1278	UTSW	2	111293179	missense	probably benign	0.01
R4857:Olfr1278	UTSW	2	111293143	missense	possibly damaging	0.95
R5061:Olfr1278	UTSW	2	111292487	missense	probably damaging	1.00
R5208:Olfr1278	UTSW	2	111292601	missense	probably damaging	1.00
R5940:Olfr1278	UTSW	2	111292384	missense	possibly damaging	0.80
R6355:Olfr1278	UTSW	2	111292885	missense	probably benign	0.05
R6820:Olfr1278	UTSW	2	111293110	missense	probably damaging	1.00
R8204:Olfr1278	UTSW	2	111293140	missense	probably damaging	1.00
R8858:Olfr1278	UTSW	2	111293158	missense	probably benign	0.02
R8991:Olfr1278	UTSW	2	111293003	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATCGTGCTGGGCAATACCCTTG -3'
(R):5'- GGGCCTTGGACAAATCACCTGATG -3'

Sequencing Primer
(F):5'- GGCAATACCCTTGTTGTGTTTAC -3'
(R):5'- CATGGAAATAAACCCACTGTTGG -3'

Posted On

2014-05-14