Mutagenetix > Incidental Mutations

Incidental Mutation 'R0960:Olfr1369-ps1'

81838

Institutional Source

Beutler Lab

Gene Symbol

Olfr1369-ps1

Ensembl Gene

ENSMUSG00000060404

Gene Name

olfactory receptor 1369, pseudogene 1

Synonyms

GA_x6K02T2QHY8-12126170-12125935, MOR256-31

MMRRC Submission

039089-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.397) question?

Stock #

R0960 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21111483-21119095 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 21116265 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 191 (D191A)

Ref Sequence

ENSEMBL: ENSMUSP00000151041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079050] [ENSMUST00000213326] [ENSMUST00000213922] [ENSMUST00000215207] [ENSMUST00000215941]

AlphaFold

A0A140T8K7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079050
AA Change: D191A

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078059
Gene: ENSMUSG00000060404
AA Change: D191A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	6.2e-47	PFAM
Pfam:7tm_1	41	290	1.1e-30	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213326
AA Change: D191A

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213922
AA Change: D191A

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215207
AA Change: D191A

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215941
AA Change: D191A

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009A15Rik	T	C	19: 8,890,428	V256A	probably benign	Het
4930433I11Rik	A	T	7: 40,993,056	T141S	probably benign	Het
4930474N05Rik	C	A	14: 36,096,410	H122N	probably benign	Het
Aamp	T	C	1: 74,281,145	T341A	possibly damaging	Het
Adam26a	A	T	8: 43,568,763	H563Q	probably damaging	Het
Ankrd13a	G	A	5: 114,786,807	E118K	probably benign	Het
Asic5	A	G	3: 82,006,540	I174V	probably benign	Het
Atad2b	G	A	12: 5,006,593		probably benign	Het
Bub1b	A	G	2: 118,606,680	I120V	probably benign	Het
Casp8	T	C	1: 58,829,013		probably null	Het
Cdk5rap2	A	G	4: 70,243,508	Y254H	probably benign	Het
Clasp1	T	C	1: 118,552,026	I996T	probably benign	Het
Cntn6	A	G	6: 104,774,480	I294V	probably benign	Het
Flnc	A	G	6: 29,441,512	D431G	probably damaging	Het
Gm4884	T	A	7: 41,042,808	M67K	possibly damaging	Het
Hmx3	T	C	7: 131,543,314	Y118H	probably benign	Het
Hsf2bp	C	T	17: 32,007,769	R204H	probably damaging	Het
Il12b	G	T	11: 44,408,488	C128F	probably damaging	Het
Ints6	T	C	14: 62,709,566	M317V	probably benign	Het
Iqca	C	A	1: 90,142,731	G133V	probably null	Het
Kcnh2	C	T	5: 24,322,672	R894H	probably damaging	Het
Kif27	T	C	13: 58,323,967	E769G	probably damaging	Het
Kif28	G	A	1: 179,695,805	Q987*	probably null	Het
Klhdc3	T	C	17: 46,676,518	H330R	possibly damaging	Het
Leo1	G	A	9: 75,445,240	E22K	probably benign	Het
Lpcat2	C	T	8: 92,869,710	T125M	probably benign	Het
Map1a	A	G	2: 121,301,643	Y742C	probably benign	Het
Mllt6	C	T	11: 97,664,946		probably benign	Het
Mpp2	A	G	11: 102,061,585	V354A	possibly damaging	Het
Mroh2a	C	A	1: 88,242,420	A685D	possibly damaging	Het
Myo10	A	G	15: 25,801,189	E1488G	probably damaging	Het
Neb	A	G	2: 52,212,983	V4461A	probably benign	Het
Nudcd1	G	T	15: 44,427,651		probably benign	Het
Olfr1129	T	C	2: 87,575,935	Y284H	probably benign	Het
Pde1a	G	A	2: 79,865,034		probably benign	Het
Sdha	A	T	13: 74,323,184		probably benign	Het
Selenoo	T	G	15: 89,096,754	I432S	probably benign	Het
Sh3gl2	A	T	4: 85,377,480	I140F	probably damaging	Het
Svopl	G	T	6: 38,017,057	Y346*	probably null	Het
Tbc1d17	C	T	7: 44,848,428		probably benign	Het
Tlr3	A	C	8: 45,397,415	I815S	probably damaging	Het
Tmem25	T	A	9: 44,795,512		probably null	Het
Tpd52	A	T	3: 8,943,590		probably null	Het
Tspoap1	A	T	11: 87,770,595		probably benign	Het
Txndc11	A	T	16: 11,091,589	D364E	probably benign	Het
Unc5cl	G	T	17: 48,459,596		probably benign	Het
Vmn1r13	A	G	6: 57,210,011	M52V	probably benign	Het
Zap70	T	C	1: 36,779,173	Y314H	probably damaging	Het

Other mutations in Olfr1369-ps1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01689:Olfr1369-ps1	APN	13	21116073	missense	probably damaging	0.97
R0631:Olfr1369-ps1	UTSW	13	21115908	missense	probably damaging	1.00
R1499:Olfr1369-ps1	UTSW	13	21116133	missense	probably benign	0.32
R1549:Olfr1369-ps1	UTSW	13	21116118	missense	probably benign	0.01
R1698:Olfr1369-ps1	UTSW	13	21116565	missense	probably benign	0.11
R1711:Olfr1369-ps1	UTSW	13	21116306	missense	probably benign	0.01
R2404:Olfr1369-ps1	UTSW	13	21115842	missense	probably damaging	1.00
R2471:Olfr1369-ps1	UTSW	13	21116429	missense	probably damaging	1.00
R3844:Olfr1369-ps1	UTSW	13	21116063	missense	possibly damaging	0.91
R3977:Olfr1369-ps1	UTSW	13	21115861	missense	probably benign	0.03
R3979:Olfr1369-ps1	UTSW	13	21115861	missense	probably benign	0.03
R4804:Olfr1369-ps1	UTSW	13	21116005	nonsense	probably null
R4914:Olfr1369-ps1	UTSW	13	21116397	missense	probably benign	0.12
R5210:Olfr1369-ps1	UTSW	13	21116052	missense	probably damaging	0.99
R5359:Olfr1369-ps1	UTSW	13	21116267	missense	probably damaging	1.00
R5700:Olfr1369-ps1	UTSW	13	21116001	missense	probably damaging	1.00
R6218:Olfr1369-ps1	UTSW	13	21116231	missense	probably damaging	1.00
R6767:Olfr1369-ps1	UTSW	13	21116057	missense	probably benign	0.02
R7396:Olfr1369-ps1	UTSW	13	21116307	missense	probably benign	0.02
R7476:Olfr1369-ps1	UTSW	13	21116021	missense	probably benign	0.04
R7612:Olfr1369-ps1	UTSW	13	21116047	missense	probably damaging	0.99
R8257:Olfr1369-ps1	UTSW	13	21116373	missense	probably benign	0.11
R9388:Olfr1369-ps1	UTSW	13	21116604	missense	probably damaging	0.96
V8831:Olfr1369-ps1	UTSW	13	21116003	missense	possibly damaging	0.93
Z1176:Olfr1369-ps1	UTSW	13	21116601	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATTGAGTGTCTGCTCCTAGCTGTC -3'
(R):5'- AGGAACTTGCCCTGGTCCTTAGAG -3'

Sequencing Primer
(F):5'- CACAGCTATTTGTAAGCCCTTG -3'
(R):5'- GGTCCTTAGAGGCCCTGTTAC -3'

Posted On

2013-11-08