Mutagenetix > Incidental Mutations

Incidental Mutation 'R2471:Olfr1369-ps1'

253112

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

040403-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.292) question?

Stock #

R2471 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21111483-21119095 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21116429 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 246 (T246S)

Ref Sequence

ENSEMBL: ENSMUSP00000151041 (fasta)

Gene Model

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

AlphaFold

A0A140T8K7

Predicted Effect

probably damaging
Transcript: ENSMUST00000079050
AA Change: T246S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000078059
Gene: ENSMUSG00000060404
AA Change: T246S

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 damaging
Transcript: ENSMUST00000213326
AA Change: T246S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000213922
AA Change: T246S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215207
AA Change: T246S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215941
AA Change: T246S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	T	9: 55,980,863	M390K	probably benign	Het
Bicra	A	G	7: 15,972,332	S1395P	probably benign	Het
Cacnb2	G	A	2: 14,984,314	D402N	probably damaging	Het
Csmd1	T	A	8: 16,211,762	D907V	probably damaging	Het
Cstl1	T	A	2: 148,751,121	Y65*	probably null	Het
Dnajc1	T	C	2: 18,219,816	I213V	possibly damaging	Het
Emcn	C	T	3: 137,404,011	T138M	probably damaging	Het
F3	G	T	3: 121,725,040	W51L	probably damaging	Het
Far2	A	G	6: 148,138,694	Y41C	probably damaging	Het
Flrt1	A	T	19: 7,096,491	D230E	probably damaging	Het
Gimap7	G	A	6: 48,724,052	V191M	probably damaging	Het
Gm19402	A	T	10: 77,690,520		probably benign	Het
Ipo5	A	C	14: 120,922,162	K134T	probably benign	Het
Kcnf1	T	C	12: 17,175,530	E230G	probably damaging	Het
Mad1l1	T	C	5: 140,261,552	E340G	probably benign	Het
Map4k5	T	C	12: 69,856,846	I62V	probably benign	Het
March7	A	G	2: 60,236,900	K588R	possibly damaging	Het
Mctp2	T	A	7: 72,161,161	K52*	probably null	Het
Nr1h4	A	T	10: 89,473,894	F310L	probably damaging	Het
Ofcc1	G	A	13: 40,097,025	S605F	probably damaging	Het
Olfr1447	G	A	19: 12,901,315	T155I	probably benign	Het
Olfr209	A	T	16: 59,361,581	S212R	possibly damaging	Het
Pcdh20	T	G	14: 88,467,236	E876A	probably benign	Het
Plce1	C	T	19: 38,779,926	A2215V	probably damaging	Het
Ptprg	T	C	14: 12,210,327	Y128H	probably damaging	Het
Sigirr	A	G	7: 141,092,597	L204S	probably damaging	Het
Slc2a12	A	T	10: 22,664,807	Y187F	probably damaging	Het
Slc31a2	A	T	4: 62,296,075	R86W	probably null	Het
Smc1b	T	C	15: 85,092,017	K830E	probably damaging	Het
Ssrp1	A	G	2: 85,042,298	N427D	possibly damaging	Het
Taar9	A	T	10: 24,109,391	F48L	probably benign	Het
Taok2	T	C	7: 126,875,100	E319G	probably damaging	Het
Try10	T	C	6: 41,356,746	S142P	probably damaging	Het
Tsc22d1	A	G	14: 76,418,204	T626A	probably benign	Het
Zfp101	T	C	17: 33,380,976	E602G	possibly 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
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'- GCCATGGTCAGGATAGCTTGTG -3'
(R):5'- CTCCTTATTTTGGCAAATCTGTGG -3'

Sequencing Primer
(F):5'- CAGGATAGCTTGTGTGGACACC -3'
(R):5'- GGCAAATCTGTGGTAAAACATCATG -3'

Posted On

2014-12-04