Mutagenetix > Incidental Mutation

Incidental Mutation 'R4276:Pstpip2'

322726

Institutional Source

Beutler Lab

Gene Symbol

Pstpip2

Ensembl Gene

ENSMUSG00000025429

Gene Name

proline-serine-threonine phosphatase-interacting protein 2

Synonyms

cmo

MMRRC Submission

041647-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4276 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77882250-77971462 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77949556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 122 (I122V)

Ref Sequence

ENSEMBL: ENSMUSP00000110389 (fasta)

Gene Model

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

AlphaFold

Q99M15

Predicted Effect

probably benign
Transcript: ENSMUST00000114741
AA Change: I122V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110389
Gene: ENSMUSG00000025429
AA Change: I122V

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

Meta Mutation Damage Score

0.0711

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (46/47)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	C	A	9: 26,889,745 (GRCm39)	Q316H	probably null	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Brix1	T	C	15: 10,481,833 (GRCm39)	D101G	possibly damaging	Het
Cfap36	A	G	11: 29,180,584 (GRCm39)		probably null	Het
Chrnb3	A	G	8: 27,883,779 (GRCm39)	N172S	probably damaging	Het
Csnk1e	T	C	15: 79,313,967 (GRCm39)	N37S	probably damaging	Het
Ern1	T	C	11: 106,298,007 (GRCm39)	I705V	probably benign	Het
Gimap8	T	C	6: 48,636,017 (GRCm39)	M594T	probably benign	Het
Gm6578	G	A	6: 12,100,187 (GRCm39)		noncoding transcript	Het
Gpc6	A	G	14: 117,673,328 (GRCm39)	D195G	probably damaging	Het
Gpcpd1	T	C	2: 132,382,207 (GRCm39)	K412E	probably damaging	Het
Insm1	C	A	2: 146,064,888 (GRCm39)	H235N	probably benign	Het
Jmjd8	A	G	17: 26,048,787 (GRCm39)		probably benign	Het
Kbtbd8	T	C	6: 95,103,914 (GRCm39)	V521A	probably damaging	Het
Kcna5	T	C	6: 126,510,329 (GRCm39)	T600A	probably damaging	Het
Kctd6	G	C	14: 8,222,806 (GRCm38)	R216P	probably damaging	Het
Lbx1	C	A	19: 45,223,528 (GRCm39)	V47L	probably benign	Het
Mefv	A	T	16: 3,533,433 (GRCm39)	N279K	probably benign	Het
Mroh1	T	G	15: 76,278,051 (GRCm39)	V24G	probably damaging	Het
Nt5c1b	A	G	12: 10,424,886 (GRCm39)	E142G	probably damaging	Het
Or4f4b	G	T	2: 111,313,849 (GRCm39)	V25L	probably damaging	Het
Or8u3-ps	G	A	2: 85,952,623 (GRCm39)	A119T	probably damaging	Het
Padi2	A	G	4: 140,663,859 (GRCm39)	E404G	possibly damaging	Het
Pitpnb	A	G	5: 111,519,258 (GRCm39)		probably null	Het
Plxna4	T	C	6: 32,177,883 (GRCm39)	N1006S	probably benign	Het
Proc	A	G	18: 32,268,967 (GRCm39)	V6A	probably benign	Het
Prrc2c	T	A	1: 162,501,160 (GRCm39)	K1214N	probably damaging	Het
Pus10	A	G	11: 23,656,895 (GRCm39)	E207G	probably damaging	Het
Rabl2	G	A	15: 89,468,391 (GRCm39)		probably benign	Het
Rbp3	G	A	14: 33,680,607 (GRCm39)	V1070I	probably benign	Het
Rtl6	T	A	15: 84,441,397 (GRCm39)		probably benign	Het
Scn7a	T	G	2: 66,514,407 (GRCm39)	K1122N	probably damaging	Het
Spag16	A	G	1: 69,912,640 (GRCm39)		probably benign	Het
Spata13	C	T	14: 60,993,745 (GRCm39)	R396C	probably damaging	Het
Stmn4	A	T	14: 66,593,166 (GRCm39)		probably benign	Het
Syp	G	T	X: 7,504,931 (GRCm39)		probably benign	Het
Tmem260	C	T	14: 48,715,093 (GRCm39)	T249M	probably damaging	Het
Tnrc6b	A	G	15: 80,786,172 (GRCm39)	I1239V	probably benign	Het
Ubr3	C	T	2: 69,768,731 (GRCm39)	Q510*	probably null	Het
Vegfa	A	G	17: 46,342,392 (GRCm39)	V142A	probably benign	Het
Vmn2r93	T	C	17: 18,525,092 (GRCm39)	I250T	possibly damaging	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
IGL00264:Pstpip2	APN	18	77,959,259 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CCGAGTCACAGTCATTAGGCTG -3'
(R):5'- AAGGAGAGCCAAGTGTTTCCC -3'

Sequencing Primer
(F):5'- CACAGTCATTAGGCTGTGAGC -3'
(R):5'- GGAGAGCCAAGTGTTTCCCTTAAC -3'

Posted On

2015-06-20