Mutagenetix > Incidental Mutation

Incidental Mutation 'R5932:Pstpip1'

461937

Institutional Source

Beutler Lab

Gene Symbol

Pstpip1

Ensembl Gene

ENSMUSG00000032322

Gene Name

proline-serine-threonine phosphatase-interacting protein 1

Synonyms

CD2BP1, def-2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R5932 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55997246-56036172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56033214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 249 (Y249N)

Ref Sequence

ENSEMBL: ENSMUSP00000055823 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059206]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000059206
AA Change: Y249N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000055823
Gene: ENSMUSG00000032322
AA Change: Y249N

Domain	Start	End	E-Value	Type
FCH	12	98	7.03e-29	SMART
Blast:SH3	226	248	1e-7	BLAST
low complexity region	318	337	N/A	INTRINSIC
SH3	361	415	8.24e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132800

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135103

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138646

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144638

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147360

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoskeletal protein that is highly expressed in hemopoietic tissues. This protein functions via its interaction with several different proteins involved in cytoskeletal organization and inflammatory processes. It binds to the cytoplasmic tail of CD2, an effector of T cell activation and adhesion, downregulating CD2-triggered adhesion. It binds PEST-type protein tyrosine phosphatases (PTP) and directs them to c-Abl kinase to mediate c-Abl dephosphorylation, thereby, regulating c-Abl activity. It also interacts with pyrin, which is found in association with the cytoskeleton in myeloid/monocytic cells and modulates immunoregulatory functions. Mutations in this gene are associated with PAPA (pyogenic sterile arthritis, pyoderma gangrenosum, and acne) syndrome. It is hypothesized that the disease-causing mutations compromise physiologic signaling necessary for the maintenance of a proper inflammatory response. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defects in immune cells with T cell hyperresponsive to antigen receptor stimulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	A	19: 31,870,518 (GRCm39)	S7T	possibly damaging	Het
Aatk	C	T	11: 119,912,359 (GRCm39)	G29S	probably damaging	Het
Akap1	A	G	11: 88,722,585 (GRCm39)	L890P	probably damaging	Het
Akap13	T	A	7: 75,259,932 (GRCm39)	M49K	probably damaging	Het
Ankrd17	A	T	5: 90,413,295 (GRCm39)	N1206K	probably damaging	Het
Bbs7	G	A	3: 36,636,847 (GRCm39)	T480I	probably benign	Het
Bbs9	A	G	9: 22,723,627 (GRCm39)	E769G	probably damaging	Het
Bpgm	T	A	6: 34,464,860 (GRCm39)	S192R	probably damaging	Het
Brinp1	C	A	4: 68,711,178 (GRCm39)	K343N	probably benign	Het
Cabyr	T	G	18: 12,887,407 (GRCm39)	V185G	probably damaging	Het
Cadm1	C	A	9: 47,710,749 (GRCm39)	D217E	probably damaging	Het
Camk1g	T	A	1: 193,036,347 (GRCm39)	E171V	probably benign	Het
Casz1	T	A	4: 149,023,570 (GRCm39)	M825K	possibly damaging	Het
Ccdc27	A	G	4: 154,111,231 (GRCm39)	V627A	probably benign	Het
Ccdc40	T	G	11: 119,141,838 (GRCm39)	I808R	probably damaging	Het
Cdh23	G	A	10: 60,228,763 (GRCm39)	R1140C	probably damaging	Het
Celsr1	A	G	15: 85,916,905 (GRCm39)	V356A	probably damaging	Het
Cep126	T	A	9: 8,103,509 (GRCm39)	D167V	probably damaging	Het
Chmp4b	C	T	2: 154,533,201 (GRCm39)	T147I	probably benign	Het
Clstn3	A	T	6: 124,415,291 (GRCm39)	M728K	probably benign	Het
Col7a1	A	T	9: 108,809,279 (GRCm39)	E2618V	unknown	Het
Cplane1	T	A	15: 8,274,079 (GRCm39)		probably null	Het
Crls1	T	A	2: 132,706,087 (GRCm39)	Y170*	probably null	Het
Dennd2b	G	A	7: 109,169,223 (GRCm39)	T24M	probably damaging	Het
Epas1	T	G	17: 87,135,074 (GRCm39)	I569S	possibly damaging	Het
Fhl3	T	C	4: 124,599,520 (GRCm39)	Y32H	probably damaging	Het
Fibp	G	A	19: 5,514,453 (GRCm39)	G333D	probably benign	Het
Frmd4a	C	T	2: 4,534,650 (GRCm39)	T156I	probably damaging	Het
Gcn1	T	C	5: 115,730,435 (GRCm39)	L873P	possibly damaging	Het
Gpr141b	C	A	13: 19,913,646 (GRCm39)		noncoding transcript	Het
Hectd3	G	A	4: 116,859,470 (GRCm39)	R698H	possibly damaging	Het
Il17a	T	C	1: 20,803,977 (GRCm39)	V124A	probably damaging	Het
Kif14	A	T	1: 136,444,128 (GRCm39)	E1373D	probably benign	Het
Klra4	C	T	6: 130,030,016 (GRCm39)	V190M	possibly damaging	Het
Kmt2a	T	C	9: 44,731,944 (GRCm39)		probably benign	Het
L3mbtl1	GGCCG	GG	2: 162,809,256 (GRCm39)		probably benign	Het
Lamb2	T	C	9: 108,357,810 (GRCm39)	I111T	probably damaging	Het
Lrch3	A	T	16: 32,796,106 (GRCm39)	D204V	probably damaging	Het
Mansc1	C	A	6: 134,587,478 (GRCm39)	R233L	possibly damaging	Het
Mkrn3	A	G	7: 62,068,655 (GRCm39)	C379R	probably damaging	Het
Ncoa3	T	A	2: 165,912,045 (GRCm39)		probably null	Het
Neu3	A	T	7: 99,462,525 (GRCm39)	C399*	probably null	Het
Or10ad1	T	G	15: 98,105,296 (GRCm39)	*323S	probably null	Het
Or52e8	G	A	7: 104,624,862 (GRCm39)	T114M	probably damaging	Het
Pcare	T	C	17: 72,058,748 (GRCm39)	R310G	probably damaging	Het
Pde5a	T	C	3: 122,634,693 (GRCm39)	F713L	probably benign	Het
Pdk1	T	A	2: 71,713,760 (GRCm39)		probably null	Het
Plin4	A	G	17: 56,413,356 (GRCm39)	V423A	possibly damaging	Het
Ptprf	A	T	4: 118,068,964 (GRCm39)	C1673S	probably benign	Het
Pum1	A	G	4: 130,457,677 (GRCm39)	T230A	probably benign	Het
Qsox1	A	T	1: 155,665,079 (GRCm39)	D287E	probably benign	Het
Rad51ap2	A	G	12: 11,508,387 (GRCm39)	N770D	probably damaging	Het
Rtp3	T	A	9: 110,815,760 (GRCm39)	I202F	probably benign	Het
Slc26a4	C	T	12: 31,585,248 (GRCm39)		probably null	Het
Spmip7	A	G	11: 11,438,513 (GRCm39)		probably benign	Het
Sptbn1	C	G	11: 30,086,136 (GRCm39)	V1191L	probably damaging	Het
Tead2	T	C	7: 44,882,323 (GRCm39)	Y121H	probably benign	Het
Thsd7b	T	C	1: 129,358,575 (GRCm39)	L3P	probably benign	Het
Trim24	T	C	6: 37,934,010 (GRCm39)	I651T	probably damaging	Het
Usp2	A	G	9: 44,003,630 (GRCm39)	I481V	probably benign	Het
Vps13d	C	A	4: 144,771,611 (GRCm39)	V4056F	possibly damaging	Het
Yeats2	A	G	16: 20,011,913 (GRCm39)	E496G	probably benign	Het
Zap70	A	G	1: 36,820,227 (GRCm39)	K503E	probably damaging	Het
Zbtb46	A	G	2: 181,053,713 (GRCm39)	L333P	probably benign	Het
Zfc3h1	A	T	10: 115,236,815 (GRCm39)	T430S	probably benign	Het
Zfp618	C	T	4: 63,036,803 (GRCm39)	R368*	probably null	Het

Other mutations in Pstpip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03103:Pstpip1	APN	9	56,021,592 (GRCm39)	missense	possibly damaging	0.65
R0108:Pstpip1	UTSW	9	56,035,050 (GRCm39)	missense	probably benign	0.00
R0344:Pstpip1	UTSW	9	56,033,929 (GRCm39)	missense	probably benign
R1269:Pstpip1	UTSW	9	56,021,590 (GRCm39)	missense	probably damaging	1.00
R1743:Pstpip1	UTSW	9	56,033,214 (GRCm39)	missense	probably damaging	1.00
R4648:Pstpip1	UTSW	9	56,032,502 (GRCm39)	missense	probably damaging	1.00
R4778:Pstpip1	UTSW	9	56,035,904 (GRCm39)	missense	possibly damaging	0.95
R7107:Pstpip1	UTSW	9	56,035,934 (GRCm39)	missense	probably damaging	1.00
R8066:Pstpip1	UTSW	9	56,033,913 (GRCm39)	missense	probably benign	0.01
R8076:Pstpip1	UTSW	9	56,035,064 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCCCAGCTTTACCAAGATAG -3'
(R):5'- TCCAGTAGGGAAGTGTGAACC -3'

Sequencing Primer
(F):5'- AGCTTTACCAAGATAGCAGGTC -3'
(R):5'- GAAGTGTGAACCACCCGAGC -3'

Posted On

2017-02-28