Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00264:Pstpip2'

3285

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pstpip2

Ensembl Gene

ENSMUSG00000025429

Gene Name

proline-serine-threonine phosphatase-interacting protein 2

Synonyms

cmo

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00264

Quality Score

Status

Chromosome

Chromosomal Location

77882250-77971462 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 77959259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114741]

AlphaFold

Q99M15

Predicted Effect

probably benign
Transcript: ENSMUST00000114741

SMART Domains

Protein: ENSMUSP00000110389
Gene: ENSMUSG00000025429

Domain	Start	End	E-Value	Type
FCH	13	98	7.62e-16	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutant animals develop osteomyelitis (bone inflammation). Tail kinks are observed starting at 6-8 weeks of age and chronic inflammation of the extremities and ears is subsequently seen. Extramedullary hematopoiesis in the spleen is observed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3	T	G	1: 125,324,966 (GRCm39)	I319L	probably benign	Het
Akap7	C	T	10: 25,047,138 (GRCm39)	D20N	probably benign	Het
Ambra1	T	A	2: 91,741,934 (GRCm39)	S1070T	probably benign	Het
Arhgef9	T	C	X: 94,125,237 (GRCm39)		probably null	Het
Ascc3	T	G	10: 50,590,531 (GRCm39)	V1083G	probably damaging	Het
Asns	T	A	6: 7,680,179 (GRCm39)	E312D	probably damaging	Het
Bpifc	A	C	10: 85,796,392 (GRCm39)	V472G	possibly damaging	Het
Ccdc71	T	A	9: 108,340,237 (GRCm39)	S17T	probably damaging	Het
Cebpzos	T	C	17: 79,225,777 (GRCm39)		probably benign	Het
Cfi	T	C	3: 129,666,744 (GRCm39)	I489T	probably damaging	Het
Chrm2	T	A	6: 36,500,326 (GRCm39)	F61Y	probably damaging	Het
Cpxm1	T	C	2: 130,237,863 (GRCm39)	Y149C	probably damaging	Het
Dnah6	A	G	6: 73,172,720 (GRCm39)	I246T	probably benign	Het
Ereg	C	A	5: 91,222,638 (GRCm39)	S7Y	probably benign	Het
Ghsr	T	A	3: 27,429,022 (GRCm39)	L349Q	possibly damaging	Het
Gm10754	A	G	10: 97,518,274 (GRCm39)		probably benign	Het
Gm8237	A	T	14: 5,864,475 (GRCm38)	L29H	probably benign	Het
Hexim2	A	G	11: 103,029,281 (GRCm39)	E111G	probably damaging	Het
Itga1	A	T	13: 115,128,899 (GRCm39)	N586K	possibly damaging	Het
Kat6b	A	G	14: 21,718,627 (GRCm39)	D1102G	probably benign	Het
Kif27	A	T	13: 58,485,418 (GRCm39)	M514K	probably benign	Het
Matn2	T	C	15: 34,428,616 (GRCm39)	I660T	probably damaging	Het
Mki67	C	A	7: 135,309,549 (GRCm39)	G301*	probably null	Het
Or13a25	T	A	7: 140,247,854 (GRCm39)	I211N	probably benign	Het
Or1l4b	T	C	2: 37,037,079 (GRCm39)	F285S	probably damaging	Het
Or5b121	A	C	19: 13,507,214 (GRCm39)	Y103S	probably damaging	Het
Or5b99	A	G	19: 12,976,683 (GRCm39)	Y111C	probably damaging	Het
Pcdhb8	A	T	18: 37,488,526 (GRCm39)	H68L	probably benign	Het
Pkhd1l1	T	C	15: 44,354,425 (GRCm39)	V272A	possibly damaging	Het
Rdh14	G	T	12: 10,441,134 (GRCm39)	G99W	probably damaging	Het
Rmc1	T	C	18: 12,312,276 (GRCm39)	V172A	probably benign	Het
Sra1	A	T	18: 36,801,792 (GRCm39)	S99R	probably benign	Het
Tbrg1	G	T	9: 37,562,337 (GRCm39)	N280K	probably benign	Het
Ugt8a	A	G	3: 125,708,285 (GRCm39)		probably null	Het
Usp40	A	T	1: 87,931,960 (GRCm39)		probably benign	Het
Vmn1r45	T	A	6: 89,910,646 (GRCm39)	Y108F	probably damaging	Het
Zfp521	A	G	18: 13,979,559 (GRCm39)	Y285H	probably benign	Het

Other mutations in Pstpip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Pstpip2	APN	18	77,961,994 (GRCm39)	missense	probably benign	0.00
IGL01373:Pstpip2	APN	18	77,922,916 (GRCm39)	nonsense	probably null
IGL01866:Pstpip2	APN	18	77,965,325 (GRCm39)	missense	probably benign	0.00
IGL02948:Pstpip2	APN	18	77,942,507 (GRCm39)	missense	probably benign	0.00
R1853:Pstpip2	UTSW	18	77,959,499 (GRCm39)	missense	probably damaging	1.00
R1854:Pstpip2	UTSW	18	77,959,499 (GRCm39)	missense	probably damaging	1.00
R1916:Pstpip2	UTSW	18	77,922,892 (GRCm39)	missense	probably damaging	0.99
R2402:Pstpip2	UTSW	18	77,942,564 (GRCm39)	missense	possibly damaging	0.82
R2927:Pstpip2	UTSW	18	77,949,589 (GRCm39)	missense	probably damaging	0.99
R3103:Pstpip2	UTSW	18	77,959,477 (GRCm39)	missense	probably damaging	0.99
R4276:Pstpip2	UTSW	18	77,949,556 (GRCm39)	missense	probably benign
R4881:Pstpip2	UTSW	18	77,962,032 (GRCm39)	nonsense	probably null
R5222:Pstpip2	UTSW	18	77,962,032 (GRCm39)	nonsense	probably null
R5361:Pstpip2	UTSW	18	77,958,078 (GRCm39)	missense	probably damaging	0.99
R6397:Pstpip2	UTSW	18	77,961,079 (GRCm39)	missense	probably benign	0.10
R7538:Pstpip2	UTSW	18	77,959,305 (GRCm39)	missense	probably damaging	1.00
R7854:Pstpip2	UTSW	18	77,962,004 (GRCm39)	missense	probably benign
R7885:Pstpip2	UTSW	18	77,882,422 (GRCm39)	missense	probably benign
R7982:Pstpip2	UTSW	18	77,967,073 (GRCm39)	missense	probably benign	0.06
R8755:Pstpip2	UTSW	18	77,961,133 (GRCm39)	missense	probably damaging	1.00
R8865:Pstpip2	UTSW	18	77,934,108 (GRCm39)	missense	possibly damaging	0.95
R9179:Pstpip2	UTSW	18	77,961,155 (GRCm39)	missense	possibly damaging	0.48
X0065:Pstpip2	UTSW	18	77,967,061 (GRCm39)	missense	probably benign	0.05

Posted On

2012-04-20