Mutagenetix > Incidental Mutation

Incidental Mutation 'R5700:Olfr1369-ps1'

450861

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

043328-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.322) question?

Stock #

R5700 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21111483-21119095 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21116001 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 103 (V103E)

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: V103E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000078059
Gene: ENSMUSG00000060404
AA Change: V103E

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: V103E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000213922
AA Change: V103E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215207
AA Change: V103E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215941
AA Change: V103E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,798,194	Q155L	probably benign	Het
Acadvl	A	C	11: 70,013,203	Y242D	probably damaging	Het
Armc8	A	G	9: 99,496,149		probably null	Het
Barx2	A	T	9: 31,858,765	F156I	probably damaging	Het
Best1	T	C	19: 9,997,199		probably benign	Het
Btbd8	T	C	5: 107,503,648	S136P	possibly damaging	Het
Btla	T	A	16: 45,250,573	Y298*	probably null	Het
Casr	T	A	16: 36,509,617	I452F	probably damaging	Het
Ccser1	C	A	6: 61,311,276	P141H	probably benign	Het
Cr2	A	G	1: 195,159,757	V296A	probably damaging	Het
Csl	T	A	10: 99,759,015	I63F	probably damaging	Het
Dbt	G	A	3: 116,520,303	V40M	probably damaging	Het
Fam53b	A	T	7: 132,760,020	L93Q	probably damaging	Het
Fdps	T	C	3: 89,095,649	I105V	probably damaging	Het
Gm4884	A	G	7: 41,043,219	D204G	probably benign	Het
Gm5592	A	G	7: 41,158,579		probably benign	Het
Gm7367	A	T	7: 60,155,762		noncoding transcript	Het
Grid2	T	A	6: 64,094,432	V413D	possibly damaging	Het
Hgf	C	T	5: 16,610,124	P471L	probably damaging	Het
Hoxc9	T	C	15: 102,981,881	Y77H	possibly damaging	Het
Hs6st3	C	T	14: 119,138,787	R125*	probably null	Het
Kdm4b	T	C	17: 56,351,700	I15T	possibly damaging	Het
Klhl1	T	C	14: 96,518,040	N93S	probably benign	Het
Klhl6	G	A	16: 19,957,218	Q197*	probably null	Het
Medag	T	C	5: 149,422,217	V7A	probably benign	Het
Mptx2	G	A	1: 173,274,847	L92F	probably benign	Het
Nckap5	C	T	1: 125,976,925		probably null	Het
Obscn	T	C	11: 59,133,194	K550R	probably benign	Het
Olfr193	T	A	16: 59,109,993	I206F	probably damaging	Het
Olfr716	A	G	7: 107,147,541	N75S	probably benign	Het
Olfr8	T	C	10: 78,955,484	I93T	probably damaging	Het
Parp6	T	C	9: 59,624,727	S101P	probably damaging	Het
Plcd3	T	C	11: 103,073,763	N594S	probably benign	Het
Plscr5	A	T	9: 92,205,511	K178*	probably null	Het
Ppp2r1b	T	C	9: 50,878,157	Y443H	probably damaging	Het
Pqlc2	C	T	4: 139,300,254	S259N	probably damaging	Het
Prnd	G	A	2: 131,953,343	V128I	probably benign	Het
Rftn1	G	T	17: 50,002,669	P156Q	probably damaging	Het
Scmh1	T	C	4: 120,516,946	V445A	probably benign	Het
Serpinb6c	A	T	13: 33,899,308	M41K	probably damaging	Het
Spns1	A	G	7: 126,372,469	V303A	possibly damaging	Het
Ston1	T	A	17: 88,644,339	S639R	probably damaging	Het
Thbs4	T	C	13: 92,776,953	D153G	probably benign	Het
Timm44	T	C	8: 4,274,171	Y36C	probably damaging	Het
Trim34b	G	T	7: 104,336,411	V418F	probably damaging	Het
Vmn1r72	C	T	7: 11,670,423	V33M	probably damaging	Het
Zcchc7	T	C	4: 44,931,084	V412A	probably benign	Het
Zfand1	T	A	3: 10,341,019	N210I	probably damaging	Het
Zfhx3	A	G	8: 108,933,867	H1251R	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
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
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'- GCTTGGATTCTCTGACCACC -3'
(R):5'- TCGAGGCAAATTCACAGTGAG -3'

Sequencing Primer
(F):5'- GTGGGTAACACTGCTATAATTCTTGC -3'
(R):5'- GTGTGCATAATATTACAGAGTTGGCC -3'

Posted On

2017-01-03