Mutagenetix > Incidental Mutation

Incidental Mutation 'R3977:Olfr1369-ps1'

311086

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

040940-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.235) question?

Stock #

R3977 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21111483-21119095 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21115861 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 56 (H56Q)

Ref Sequence

ENSEMBL: ENSMUSP00000151041 (fasta)

Gene Model

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

AlphaFold

A0A140T8K7

Predicted Effect

probably benign
Transcript: ENSMUST00000079050
AA Change: H56Q

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000078059
Gene: ENSMUSG00000060404
AA Change: H56Q

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

probably benign
Transcript: ENSMUST00000213326
AA Change: H56Q

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000213922
AA Change: H56Q

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000215207
AA Change: H56Q

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000215941
AA Change: H56Q

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.7%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	C	T	11: 105,981,838	P942L	possibly damaging	Het
Adam28	A	G	14: 68,610,994	V671A	probably benign	Het
Arfgef1	A	G	1: 10,209,634	V236A	probably benign	Het
B020004C17Rik	G	T	14: 57,017,188	M156I	possibly damaging	Het
Bicral	T	A	17: 46,830,991	M1L	unknown	Het
Brpf3	A	G	17: 28,807,042	E363G	possibly damaging	Het
Ccdc96	T	C	5: 36,485,166	L172P	possibly damaging	Het
Cln3	G	A	7: 126,580,136		probably benign	Het
Dnah7c	T	C	1: 46,628,911	I1526T	possibly damaging	Het
Fmo3	T	G	1: 162,958,578	E281A	probably damaging	Het
Frem2	A	G	3: 53,652,070	I1672T	probably benign	Het
Gbp2b	A	G	3: 142,603,709	I194V	probably benign	Het
Gprc6a	C	A	10: 51,621,101	V449L	probably benign	Het
Hk1	A	G	10: 62,290,319	V396A	probably benign	Het
Hoxc13	T	C	15: 102,921,240	V18A	possibly damaging	Het
Hr	A	G	14: 70,563,584	T699A	probably benign	Het
Il19	A	T	1: 130,936,033	C74S	probably damaging	Het
Krt2	T	C	15: 101,811,127	T703A	unknown	Het
Lrig2	A	T	3: 104,457,844	V664E	probably damaging	Het
Lrrc37a	T	C	11: 103,457,604	K2755R	unknown	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Mbtd1	A	G	11: 93,905,175	N13D	probably benign	Het
Mfsd4b5	T	C	10: 39,974,708		probably benign	Het
Nras	A	G	3: 103,060,225	I46V	probably benign	Het
Oasl1	C	T	5: 114,932,898	T274I	probably damaging	Het
Ogfod2	C	A	5: 124,113,209		probably null	Het
Olfr1264	C	A	2: 90,021,745	G107V	probably damaging	Het
Olfr1419	C	A	19: 11,870,505	R237L	possibly damaging	Het
Olfr1420	T	A	19: 11,896,516	F165Y	probably damaging	Het
Olfr774	C	T	10: 129,238,508	R120C	probably damaging	Het
Olfr96	T	C	17: 37,225,158	V11A	probably benign	Het
Pkmyt1	A	G	17: 23,735,331	M362V	probably benign	Het
Ppfia2	A	G	10: 106,830,629	T399A	possibly damaging	Het
Ppp1r12b	A	G	1: 134,765,975	S983P	probably benign	Het
Ptpn22	A	G	3: 103,873,641		probably benign	Het
Raph1	A	T	1: 60,498,523	D491E	probably benign	Het
Rc3h1	A	G	1: 160,959,399		probably null	Het
Rtn4	T	C	11: 29,693,819	L5P	probably benign	Het
Sdccag3	T	A	2: 26,384,793	N364I	probably damaging	Het
Slc23a4	C	T	6: 34,953,788	V400I	probably benign	Het
Slco1a5	A	G	6: 142,258,972		probably benign	Het
Smpd1	T	C	7: 105,555,901	F329S	probably benign	Het
Sycp2l	A	G	13: 41,141,964	I334M	probably damaging	Het
Tas2r103	A	G	6: 133,036,317	L262P	probably benign	Het
Ten1	G	A	11: 116,216,945		probably null	Het
Tfap2d	C	G	1: 19,104,494	S57C	possibly damaging	Het
Tnr	A	G	1: 159,892,023	M957V	probably benign	Het
Trbv13-3	A	G	6: 41,130,145		probably benign	Het
Trp53rkb	C	T	2: 166,795,526	A134V	possibly damaging	Het
Trp63	A	G	16: 25,820,740		probably benign	Het
Vmn2r112	T	A	17: 22,603,115	V258E	probably damaging	Het
Vmn2r74	T	C	7: 85,958,137	Y126C	probably benign	Het
Vmn2r96	T	A	17: 18,597,679	I698N	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
R0960:Olfr1369-ps1	UTSW	13	21116265	missense	possibly damaging	0.94
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
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
R9697:Olfr1369-ps1	UTSW	13	21115722	missense	probably benign	0.21
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'- TGAAAGACTATGGACCCAAGC -3'
(R):5'- GCAAGGGCTTACAAATAGCTG -3'

Sequencing Primer
(F):5'- GGACCCAAGCAATTACAGTACTTTG -3'
(R):5'- GGCTTACAAATAGCTGTGAAACGATC -3'

Posted On

2015-04-29