Mutagenetix > Incidental Mutation

Incidental Mutation 'R7057:Olfr390'

548000

Institutional Source

Beutler Lab

Gene Symbol

Olfr390

Ensembl Gene

ENSMUSG00000069818

Gene Name

olfactory receptor 390

Synonyms

MOR135-26, GA_x6K02T2P1NL-3938806-3939741

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R7057 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73782964-73790446 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 73787148 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 70 (D70A)

Ref Sequence

ENSEMBL: ENSMUSP00000148992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092919] [ENSMUST00000120081] [ENSMUST00000206815] [ENSMUST00000215161]

AlphaFold

Q8VEZ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092919
AA Change: D70A

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090598
Gene: ENSMUSG00000069818
AA Change: D70A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.1e-61	PFAM
Pfam:7TM_GPCR_Srsx	35	305	7.2e-9	PFAM
Pfam:7tm_1	41	290	6.8e-28	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120081
AA Change: D70A

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113472
Gene: ENSMUSG00000069818
AA Change: D70A

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	35	305	7.2e-9	PFAM
Pfam:7tm_1	41	290	1.4e-36	PFAM
Pfam:7tm_4	139	283	5.6e-45	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206815
AA Change: D70A

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215161
AA Change: D70A

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	T	A	6: 40,968,247	V220D	probably benign	Het
Ankrd1	T	C	19: 36,118,233	E113G	possibly damaging	Het
Aqp12	T	C	1: 93,011,996	L249P	probably damaging	Het
Atg4a-ps	A	G	3: 103,645,980	F15S	possibly damaging	Het
Bub1	T	A	2: 127,829,527	M46L	probably benign	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
C2cd4d	A	G	3: 94,363,493	H22R	probably benign	Het
Ccdc157	A	G	11: 4,144,586	V480A	probably benign	Het
Cdc42ep3	G	A	17: 79,335,523		probably benign	Het
Cela1	T	A	15: 100,682,893	T161S	possibly damaging	Het
Chtf18	G	T	17: 25,721,126	A697E	possibly damaging	Het
Cr2	T	C	1: 195,151,610	D957G	possibly damaging	Het
Cyp2c40	A	G	19: 39,807,619	V60A	probably damaging	Het
Dazl	CCATGATGGCGGC	CC	17: 50,293,406		probably null	Het
Dock2	A	T	11: 34,227,684	L1824Q	probably benign	Het
Dock2	T	C	11: 34,695,217	Y546C	probably benign	Het
Fam208a	A	T	14: 27,461,651	N689I	probably damaging	Het
Focad	G	A	4: 88,274,105	C557Y	unknown	Het
Ftmt	T	A	18: 52,332,108	N165K	probably benign	Het
Gen1	A	C	12: 11,242,418	S457A	probably benign	Het
Gja1	T	G	10: 56,388,033	S163A	probably benign	Het
Gm8267	T	C	14: 44,722,024	I194M	probably damaging	Het
Golga3	T	A	5: 110,188,663	S389R	probably damaging	Het
Gpc5	C	A	14: 115,133,242	Q87K	possibly damaging	Het
Hmcn2	G	A	2: 31,422,649	A3420T	probably damaging	Het
Htt	A	G	5: 34,821,723	S817G	probably null	Het
Hus1b	C	T	13: 30,947,550	C42Y	possibly damaging	Het
Iars2	A	G	1: 185,289,367	F913L	probably benign	Het
Kcna4	A	G	2: 107,295,320	E133G	probably damaging	Het
Klhl36	T	C	8: 119,876,797	L597P	probably benign	Het
Ltv1	T	C	10: 13,180,902	E299G	possibly damaging	Het
Mmp12	A	G	9: 7,357,840	Y348C	probably damaging	Het
Mmp12	G	A	9: 7,369,173	V270I	probably benign	Het
Mmp2	A	G	8: 92,831,705	D134G	probably damaging	Het
Mrpl15	A	T	1: 4,776,642	M237K	probably benign	Het
Ms4a6b	G	T	19: 11,526,889	V177F	possibly damaging	Het
Muc16	A	G	9: 18,646,079	S2973P	unknown	Het
Olfr1219	A	C	2: 89,074,464	I209S	possibly damaging	Het
Olfr1445	A	T	19: 12,884,642	I254F	probably damaging	Het
Olfr1477	G	T	19: 13,502,879	D179Y	probably damaging	Het
Olfr912	A	T	9: 38,581,754	H159L	probably damaging	Het
Pikfyve	T	A	1: 65,247,205	I1201K	probably benign	Het
Plekhn1	T	G	4: 156,233,917	M83L	probably damaging	Het
Pnlip	G	T	19: 58,676,263	D212Y	probably damaging	Het
Pomt2	T	C	12: 87,127,378	N417S	probably damaging	Het
Pxylp1	T	A	9: 96,825,050	M360L	probably benign	Het
Rbak	G	A	5: 143,173,927	T457I	possibly damaging	Het
Runx2	A	T	17: 44,814,537	W31R	probably null	Het
Sec16a	T	A	2: 26,425,265	I1795F	probably damaging	Het
Sik2	A	T	9: 50,998,561	I64N	probably damaging	Het
Slc26a8	T	C	17: 28,638,397	E924G	possibly damaging	Het
Slc30a2	G	A	4: 134,347,415	R161Q	probably damaging	Het
Slc45a4	C	A	15: 73,587,638	D174Y	probably damaging	Het
Slc6a6	A	C	6: 91,741,267	E354A	probably damaging	Het
Slc8a1	A	T	17: 81,649,095	S171R	probably damaging	Het
Srgap1	T	C	10: 121,804,953	I669M	probably benign	Het
Stk39	C	A	2: 68,410,127	A87S	possibly damaging	Het
Tbx18	C	A	9: 87,705,264	S600I	possibly damaging	Het
Tesc	A	C	5: 118,054,960	K114Q	probably damaging	Het
Tll1	T	C	8: 64,101,881	D256G	probably damaging	Het
Tmem35b	T	A	4: 127,127,886	I45K	probably benign	Het
Tnks	T	C	8: 34,840,014	D1127G	probably damaging	Het
Trpm8	A	T	1: 88,362,080	D920V	probably null	Het
U2af1	A	T	17: 31,648,857	D79E	probably benign	Het
Zfp704	T	C	3: 9,470,917	D331G	probably damaging	Het
Znrf3	G	T	11: 5,282,442	P261Q	probably benign	Het
Zscan4b	A	T	7: 10,901,709	C202*	probably null	Het

Other mutations in Olfr390

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Olfr390	APN	11	73787580	missense	probably damaging	1.00
IGL01621:Olfr390	APN	11	73787277	missense	probably damaging	0.99
IGL01630:Olfr390	APN	11	73787861	missense	probably benign	0.14
IGL01866:Olfr390	APN	11	73787828	missense	probably benign	0.28
IGL02577:Olfr390	APN	11	73787046	missense	probably damaging	1.00
IGL02617:Olfr390	APN	11	73787734	missense	probably benign	0.01
IGL03017:Olfr390	APN	11	73787518	missense	probably benign	0.01
IGL03215:Olfr390	APN	11	73787385	missense	probably damaging	1.00
IGL03342:Olfr390	APN	11	73787483	missense	probably benign	0.03
IGL03098:Olfr390	UTSW	11	73787703	missense	probably benign	0.29
R0115:Olfr390	UTSW	11	73787315	missense	possibly damaging	0.45
R0217:Olfr390	UTSW	11	73787388	missense	possibly damaging	0.90
R1971:Olfr390	UTSW	11	73787790	missense	probably damaging	1.00
R2033:Olfr390	UTSW	11	73787438	missense	probably benign	0.15
R2058:Olfr390	UTSW	11	73787274	missense	probably benign	0.00
R3051:Olfr390	UTSW	11	73787234	missense	probably benign	0.01
R3622:Olfr390	UTSW	11	73787741	missense	probably benign	0.00
R3913:Olfr390	UTSW	11	73787696	missense	probably damaging	1.00
R4545:Olfr390	UTSW	11	73787166	missense	probably damaging	1.00
R4656:Olfr390	UTSW	11	73787511	missense	probably damaging	1.00
R5120:Olfr390	UTSW	11	73786964	missense	probably benign	0.01
R5635:Olfr390	UTSW	11	73787634	missense	probably benign	0.26
R6020:Olfr390	UTSW	11	73787552	missense	probably benign	0.03
R6151:Olfr390	UTSW	11	73787695	nonsense	probably null
R6885:Olfr390	UTSW	11	73787100	missense	possibly damaging	0.94
R6984:Olfr390	UTSW	11	73787777	missense	possibly damaging	0.91
R7120:Olfr390	UTSW	11	73787114	missense	probably damaging	0.98
R7704:Olfr390	UTSW	11	73787790	missense	probably damaging	1.00
R8323:Olfr390	UTSW	11	73786940	start codon destroyed	probably damaging	1.00
R9100:Olfr390	UTSW	11	73787861	missense	probably benign	0.14
R9258:Olfr390	UTSW	11	73787455	missense	probably benign	0.28
R9384:Olfr390	UTSW	11	73786970	missense	probably benign
R9421:Olfr390	UTSW	11	73787101	missense	probably benign	0.23
R9450:Olfr390	UTSW	11	73787275	missense	possibly damaging	0.56
R9698:Olfr390	UTSW	11	73787616	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACATTACAGGAAGATCATGCCTG -3'
(R):5'- AAGCAGATGGCCACATAGCG -3'

Sequencing Primer
(F):5'- TTACAGGAAGATCATGCCTGGAAAC -3'
(R):5'- CACATAGCGGTCATAGGCCATG -3'

Posted On

2019-05-13