Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00971:Postn'

27154

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Postn

Ensembl Gene

ENSMUSG00000027750

Gene Name

periostin, osteoblast specific factor

Synonyms

peri, A630052E07Rik, OSF-2, Osf2, Periostin

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00971

Quality Score

Status

Chromosome

Chromosomal Location

54361109-54391037 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54369276 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 192 (N192S)

Ref Sequence

ENSEMBL: ENSMUSP00000112735 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073012] [ENSMUST00000081564] [ENSMUST00000107985] [ENSMUST00000117373]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073012
AA Change: N192S

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000072773
Gene: ENSMUSG00000027750
AA Change: N192S

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
FAS1	135	235	7.81e-30	SMART
FAS1	272	370	2.31e-32	SMART
FAS1	406	497	2.43e-17	SMART
FAS1	534	633	2.5e-28	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081564
AA Change: N192S

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080276
Gene: ENSMUSG00000027750
AA Change: N192S

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
FAS1	135	235	7.81e-30	SMART
FAS1	272	370	2.31e-32	SMART
FAS1	406	497	2.43e-17	SMART
FAS1	534	633	2.5e-28	SMART
low complexity region	669	680	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107985
AA Change: N192S

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103619
Gene: ENSMUSG00000027750
AA Change: N192S

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
FAS1	135	235	7.81e-30	SMART
FAS1	272	370	2.31e-32	SMART
FAS1	406	497	2.43e-17	SMART
FAS1	534	633	2.5e-28	SMART
low complexity region	669	680	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117373
AA Change: N192S

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112735
Gene: ENSMUSG00000027750
AA Change: N192S

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
FAS1	135	235	7.81e-30	SMART
FAS1	272	370	2.31e-32	SMART
FAS1	406	497	2.43e-17	SMART
FAS1	534	633	2.5e-28	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a secreted extracellular matrix protein that functions in tissue development and regeneration, including wound healing and ventricular remodeling following myocardial infarction. The encoded protein binds to integrins to support adhesion and migration of epithelial cells. This protein plays a role in cancer stem cell maintenance and metastasis. Mice lacking this gene exhibit cardiac valve disease, and skeletal and dental defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mice display abnormalities of the enamel, periodontal ligament, ameloblasts, and incisors. For one allele changing the hardness of the food alters the severity of the abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	C	T	14: 35,810,213	C135Y	possibly damaging	Het
Afdn	T	A	17: 13,852,313		probably benign	Het
Akap10	A	G	11: 61,904,796	V347A	possibly damaging	Het
Ankrd11	A	G	8: 122,895,353	S587P	probably damaging	Het
Ces1g	T	C	8: 93,303,032	Y524C	probably damaging	Het
Cubn	T	C	2: 13,278,408	N3573S	possibly damaging	Het
Cyp1a1	G	T	9: 57,700,707	C206F	probably damaging	Het
Fam166b	A	G	4: 43,428,377	L51P	probably damaging	Het
Fbxo30	T	C	10: 11,290,298	Y255H	probably benign	Het
Ggnbp2	T	C	11: 84,840,404	I295V	possibly damaging	Het
Gm8979	G	A	7: 106,081,801		noncoding transcript	Het
Gpatch8	A	G	11: 102,479,917	Y932H	unknown	Het
Heatr6	C	T	11: 83,759,309	P197L	probably damaging	Het
Helb	T	C	10: 120,094,263	D737G	possibly damaging	Het
Helz	A	T	11: 107,663,653	I1226F	possibly damaging	Het
Ipo11	A	T	13: 106,856,769	I749N	probably damaging	Het
Ipo13	T	C	4: 117,914,367	E2G	possibly damaging	Het
Jam3	A	C	9: 27,101,892	D127E	probably damaging	Het
Kif16b	G	T	2: 142,711,744	Q1045K	probably benign	Het
Kin	T	C	2: 10,090,348	W121R	possibly damaging	Het
Man1b1	T	G	2: 25,343,325	S237A	possibly damaging	Het
Mmel1	C	T	4: 154,887,832		probably benign	Het
Morn4	T	C	19: 42,076,120	N143S	possibly damaging	Het
Nlrp4b	A	G	7: 10,714,955	T362A	possibly damaging	Het
Ntpcr	C	T	8: 125,747,762	T153M	probably damaging	Het
Olfr62	T	A	4: 118,666,278	F254I	probably damaging	Het
Pdzd2	A	G	15: 12,374,718	L1777P	probably benign	Het
Prkar1a	A	T	11: 109,661,051	Y122F	probably benign	Het
Serpinb7	A	G	1: 107,428,246		probably benign	Het
Setd3	A	T	12: 108,160,237	I121N	probably damaging	Het
Slamf7	T	A	1: 171,639,242	I132L	probably benign	Het
Syt4	T	C	18: 31,447,174		probably benign	Het
Tesc	G	A	5: 118,056,439		probably null	Het
Tsc1	C	A	2: 28,670,940	S270*	probably null	Het
Wap	C	A	11: 6,636,808	C97F	probably damaging	Het
Zfp451	A	G	1: 33,783,153	S155P	probably benign	Het
Zfp469	A	G	8: 122,269,733		probably benign	Het
Zfp51	C	T	17: 21,463,582	T153M	probably benign	Het
Zfp579	A	G	7: 4,993,391	I507T	probably damaging	Het

Other mutations in Postn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Postn	APN	3	54373728	missense	probably damaging	1.00
IGL00567:Postn	APN	3	54384523	missense	probably benign
IGL00742:Postn	APN	3	54372894	missense	possibly damaging	0.81
IGL01105:Postn	APN	3	54362710	missense	probably damaging	1.00
IGL01460:Postn	APN	3	54375158	unclassified	probably benign
IGL01609:Postn	APN	3	54369228	missense	probably damaging	0.99
IGL01878:Postn	APN	3	54383480	splice site	probably null
IGL01885:Postn	APN	3	54376034	unclassified	probably benign
IGL02040:Postn	APN	3	54362689	missense	probably benign
IGL02431:Postn	APN	3	54375096	missense	probably damaging	0.99
IGL02578:Postn	APN	3	54377204	missense	possibly damaging	0.93
IGL02943:Postn	APN	3	54377608	critical splice donor site	probably null
IGL03307:Postn	APN	3	54375127	missense	probably benign	0.32
sticklike	UTSW	3	54372106	missense	probably damaging	1.00
R0117:Postn	UTSW	3	54383481	splice site	probably benign
R0270:Postn	UTSW	3	54384550	missense	probably damaging	0.98
R0410:Postn	UTSW	3	54385277	missense	possibly damaging	0.93
R0548:Postn	UTSW	3	54367576	nonsense	probably null
R0734:Postn	UTSW	3	54362715	missense	probably damaging	1.00
R1648:Postn	UTSW	3	54376101	missense	probably damaging	1.00
R1796:Postn	UTSW	3	54373756	missense	probably damaging	1.00
R1823:Postn	UTSW	3	54385287	critical splice donor site	probably null
R1938:Postn	UTSW	3	54377612	splice site	probably null
R2311:Postn	UTSW	3	54385223	missense	probably damaging	0.98
R2566:Postn	UTSW	3	54376953	missense	probably damaging	0.97
R2938:Postn	UTSW	3	54370310	missense	probably damaging	1.00
R4105:Postn	UTSW	3	54376041	missense	probably damaging	1.00
R4394:Postn	UTSW	3	54370955	missense	probably damaging	1.00
R4620:Postn	UTSW	3	54376993	missense	probably damaging	1.00
R4628:Postn	UTSW	3	54372157	missense	probably damaging	1.00
R4697:Postn	UTSW	3	54375071	missense	probably damaging	1.00
R4709:Postn	UTSW	3	54384610	intron	probably benign
R4952:Postn	UTSW	3	54390315	utr 3 prime	probably benign
R5303:Postn	UTSW	3	54377597	missense	probably damaging	1.00
R5704:Postn	UTSW	3	54372106	missense	probably damaging	1.00
R5902:Postn	UTSW	3	54372089	missense	probably benign	0.03
R5914:Postn	UTSW	3	54373800	nonsense	probably null
R6032:Postn	UTSW	3	54376716	missense	possibly damaging	0.53
R6032:Postn	UTSW	3	54376716	missense	possibly damaging	0.53
R6101:Postn	UTSW	3	54372220	splice site	probably null
R6105:Postn	UTSW	3	54372220	splice site	probably null
R6334:Postn	UTSW	3	54385282	missense	probably benign
R7131:Postn	UTSW	3	54362635	missense	probably damaging	1.00
R7322:Postn	UTSW	3	54370280	missense	probably damaging	1.00
R7430:Postn	UTSW	3	54370202	missense	probably damaging	1.00
R7497:Postn	UTSW	3	54362670	missense	probably damaging	1.00
RF018:Postn	UTSW	3	54384492	missense	probably damaging	0.96
X0004:Postn	UTSW	3	54362694	missense	probably damaging	1.00
X0022:Postn	UTSW	3	54370840	missense	probably benign	0.03
Z1088:Postn	UTSW	3	54375127	missense	probably benign	0.32

Posted On

2013-04-17