Mutagenetix > Incidental Mutations

Incidental Mutation 'R2212:Olfr1396'

239466

Institutional Source

Beutler Lab

Gene Symbol

Olfr1396

Ensembl Gene

ENSMUSG00000047511

Gene Name

olfactory receptor 1396

Synonyms

GA_x6K02T2QP88-6321048-6321995, MOR276-2

MMRRC Submission

040214-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R2212 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49109982-49114874 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 49113216 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 170 (C170Y)

Ref Sequence

ENSEMBL: ENSMUSP00000150961 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056759] [ENSMUST00000060398] [ENSMUST00000102785] [ENSMUST00000109201] [ENSMUST00000179282] [ENSMUST00000203007] [ENSMUST00000203149] [ENSMUST00000203810] [ENSMUST00000215553]

Predicted Effect

probably benign
Transcript: ENSMUST00000056759

SMART Domains

Protein: ENSMUSP00000058544
Gene: ENSMUSG00000040328

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	4	227	5.7e-7	PFAM
Pfam:7tm_1	10	259	1.5e-33	PFAM
Pfam:7tm_4	108	252	1.7e-46	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000060398
AA Change: C170Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056876
Gene: ENSMUSG00000047511
AA Change: C170Y

Domain	Start	End	E-Value	Type
Pfam:7tm_4	40	319	3.2e-46	PFAM
Pfam:7tm_1	53	302	7.3e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102785

SMART Domains

Protein: ENSMUSP00000099846
Gene: ENSMUSG00000040328

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	4	227	5.7e-7	PFAM
Pfam:7tm_1	10	259	1.5e-33	PFAM
Pfam:7tm_4	108	252	1.7e-46	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109201
AA Change: C170Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104824
Gene: ENSMUSG00000047511
AA Change: C170Y

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	36	252	1e-5	PFAM
Pfam:7tm_1	42	291	4e-35	PFAM
Pfam:7tm_4	140	284	5.3e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179282

SMART Domains

Protein: ENSMUSP00000136647
Gene: ENSMUSG00000040328

Domain	Start	End	E-Value	Type
Pfam:7tm_4	1	276	3.6e-51	PFAM
Pfam:7TM_GPCR_Srsx	4	227	5.7e-7	PFAM
Pfam:7tm_1	10	259	3.8e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000203007
AA Change: C170Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145057
Gene: ENSMUSG00000047511
AA Change: C170Y

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	308	9.6e-47	PFAM
Pfam:7TM_GPCR_Srsx	36	252	1e-5	PFAM
Pfam:7tm_1	42	291	3.1e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203149

SMART Domains

Protein: ENSMUSP00000145429
Gene: ENSMUSG00000040328

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	2.6e-51	PFAM
Pfam:7TM_GPCR_Srsx	36	253	3.8e-7	PFAM
Pfam:7tm_1	42	291	2.5e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203412

Predicted Effect

probably benign
Transcript: ENSMUST00000203810

SMART Domains

Protein: ENSMUSP00000144951
Gene: ENSMUSG00000040328

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	2.6e-51	PFAM
Pfam:7TM_GPCR_Srsx	36	253	3.8e-7	PFAM
Pfam:7tm_1	42	291	2.5e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215553
AA Change: C170Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,470,920	Y6C	probably damaging	Het
3425401B19Rik	T	A	14: 32,661,602	Q802L	probably benign	Het
Adarb2	T	C	13: 8,752,618	F643S	probably damaging	Het
Angptl4	A	G	17: 33,775,418	I401T	probably damaging	Het
Ap2a2	T	A	7: 141,598,776	N105K	probably benign	Het
Atp8b4	C	A	2: 126,375,757	W613L	probably damaging	Het
Coq10a	A	G	10: 128,365,129	V93A	possibly damaging	Het
Cyp4f39	A	T	17: 32,487,063	E376V	possibly damaging	Het
Deup1	A	T	9: 15,599,843	D213E	probably benign	Het
Ehmt2	A	G	17: 34,899,365	S39G	probably benign	Het
Eya1	T	A	1: 14,274,209		probably null	Het
Fam92a	A	G	4: 12,171,696		probably null	Het
Fcna	G	C	2: 25,627,493	P49A	probably damaging	Het
Flnb	AAGGAG	AAG	14: 7,881,652		probably benign	Het
Fscn2	G	T	11: 120,361,591		probably benign	Het
Gckr	T	A	5: 31,300,867		probably null	Het
Golgb1	A	G	16: 36,887,347	K68E	probably damaging	Het
H2-M11	G	A	17: 36,548,930	V272M	probably damaging	Het
Hace1	T	A	10: 45,648,675	D234E	possibly damaging	Het
Il18r1	A	T	1: 40,491,067	D318V	probably damaging	Het
Il4i1	T	C	7: 44,836,658	L22P	probably damaging	Het
Kcnq3	A	T	15: 66,020,293	F411Y	probably benign	Het
Kcnt2	A	G	1: 140,530,800	Y775C	probably damaging	Het
Krt84	A	C	15: 101,532,538	V73G	probably benign	Het
Lcp2	A	C	11: 34,070,995	D117A	probably benign	Het
Lemd1	C	A	1: 132,228,286	T22K	probably benign	Het
Mdm4	T	C	1: 132,994,522	D294G	probably damaging	Het
Mep1a	G	A	17: 43,477,263	A634V	probably benign	Het
Myh15	A	G	16: 49,138,732	D989G	probably benign	Het
Myo1g	G	T	11: 6,517,870	H188Q	possibly damaging	Het
Nsmaf	C	A	4: 6,396,732	L918F	probably damaging	Het
Olfr561	T	C	7: 102,774,755	L77P	possibly damaging	Het
Olfr635	T	C	7: 103,979,402	L76P	probably damaging	Het
Olfr963	T	A	9: 39,669,228	M57K	probably damaging	Het
Pfkfb2	A	T	1: 130,707,532	N97K	probably damaging	Het
Phlda1	A	T	10: 111,507,168	E255V	probably damaging	Het
Pla2g4f	T	C	2: 120,303,106	S579G	probably benign	Het
Plcz1	C	T	6: 140,002,081	R525Q	probably damaging	Het
Ppargc1b	G	A	18: 61,311,220	Q291*	probably null	Het
Ppef2	T	G	5: 92,228,722	S649R	probably damaging	Het
Ppp1r3b	A	G	8: 35,384,225	T73A	possibly damaging	Het
Prss43	G	C	9: 110,829,464	Q277H	probably damaging	Het
Rusc2	T	G	4: 43,415,935	S414A	probably damaging	Het
Serpina3j	G	A	12: 104,314,726	D53N	probably damaging	Het
Sez6l	A	G	5: 112,475,361	L108P	possibly damaging	Het
Slc1a7	A	G	4: 108,010,994	E497G	probably benign	Het
Spag8	T	A	4: 43,651,606	S423C	probably damaging	Het
Spata13	A	G	14: 60,706,723	T522A	probably benign	Het
Spryd3	A	G	15: 102,130,276		probably null	Het
Sry	T	A	Y: 2,663,339	N107I	probably damaging	Het
St6galnac1	A	G	11: 116,765,856	W486R	probably damaging	Het
Syt1	G	T	10: 108,504,414	P348T	possibly damaging	Het
Taok2	T	C	7: 126,870,858	I933V	possibly damaging	Het
Tex9	C	A	9: 72,477,758	Q265H	possibly damaging	Het
Tmem63a	G	A	1: 180,963,114	D446N	possibly damaging	Het
Trim59	T	C	3: 69,037,543	T155A	probably benign	Het
Trim69	T	C	2: 122,178,644	V395A	probably benign	Het
Tusc1	C	A	4: 93,334,936	R162L	probably damaging	Het
Ubash3a	A	T	17: 31,218,034	Q208H	probably damaging	Het
Ubn2	A	G	6: 38,498,739	T1211A	probably benign	Het
Vmn2r110	A	T	17: 20,573,947		probably null	Het
Vrk3	C	T	7: 44,775,442	T427M	probably benign	Het
Zfyve28	C	T	5: 34,199,684	M723I	probably benign	Het
Zmynd8	A	T	2: 165,815,451	M533K	probably damaging	Het

Other mutations in Olfr1396

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Olfr1396	APN	11	49112853	missense	probably damaging	1.00
IGL01514:Olfr1396	APN	11	49113576	missense	probably damaging	1.00
IGL03188:Olfr1396	APN	11	49113709	missense	probably damaging	1.00
R0314:Olfr1396	UTSW	11	49113692	missense	possibly damaging	0.54
R1242:Olfr1396	UTSW	11	49112901	missense	possibly damaging	0.95
R1625:Olfr1396	UTSW	11	49113244	missense	probably benign	0.01
R4290:Olfr1396	UTSW	11	49113427	missense	probably benign	0.00
R4291:Olfr1396	UTSW	11	49113427	missense	probably benign	0.00
R4292:Olfr1396	UTSW	11	49113427	missense	probably benign	0.00
R4294:Olfr1396	UTSW	11	49113427	missense	probably benign	0.00
R4295:Olfr1396	UTSW	11	49113427	missense	probably benign	0.00
R4351:Olfr1396	UTSW	11	49113703	missense	probably damaging	0.99
R4817:Olfr1396	UTSW	11	49113621	missense	probably damaging	1.00
R4859:Olfr1396	UTSW	11	49113166	missense	probably damaging	1.00
R5245:Olfr1396	UTSW	11	49113289	missense	probably benign	0.12
R5350:Olfr1396	UTSW	11	49113052	missense	probably benign	0.00
R6625:Olfr1396	UTSW	11	49113069	missense	probably damaging	1.00
R7529:Olfr1396	UTSW	11	49112859	missense	probably damaging	1.00
X0024:Olfr1396	UTSW	11	49113311	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- GTGCATATGGAGTACGGTTCC -3'
(R):5'- TTGTGGCATACAAATTGGCC -3'

Sequencing Primer
(F):5'- CATATGGAGTACGGTTCCTAGGATGC -3'
(R):5'- GGCATACAAATTGGCCTCTTTG -3'

Posted On

2014-10-15