Mutagenetix > Incidental Mutation

Incidental Mutation 'R7885:Pstpip2'

609038

Institutional Source

Beutler Lab

Gene Symbol

Pstpip2

Ensembl Gene

ENSMUSG00000025429

Gene Name

proline-serine-threonine phosphatase-interacting protein 2

Synonyms

cmo

MMRRC Submission

045937-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7885 (G1)

Quality Score

191.009

Status

Not validated

Chromosome

Chromosomal Location

77882250-77971462 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 77882422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 2 (T2K)

Ref Sequence

ENSEMBL: ENSMUSP00000110389 (fasta)

Gene Model

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

AlphaFold

Q99M15

Predicted Effect

probably benign
Transcript: ENSMUST00000114741
AA Change: T2K

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

SMART Domains

Protein: ENSMUSP00000110389
Gene: ENSMUSG00000025429
AA Change: T2K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	G	10: 77,131,542 (GRCm39)	V649A	possibly damaging	Het
Arglu1	C	T	8: 8,717,337 (GRCm39)	R244H	possibly damaging	Het
Asic5	A	T	3: 81,913,812 (GRCm39)	Y204F	probably benign	Het
Asz1	A	G	6: 18,104,876 (GRCm39)	F76S	probably damaging	Het
Bin1	G	A	18: 32,552,896 (GRCm39)	A174T	probably damaging	Het
Bnipl	A	C	3: 95,157,551 (GRCm39)	S23A	probably benign	Het
Cd19	T	C	7: 126,011,303 (GRCm39)	T294A	probably benign	Het
Cdon	G	A	9: 35,367,818 (GRCm39)	V238I	probably benign	Het
Chd3	A	T	11: 69,247,451 (GRCm39)	D957E	probably benign	Het
Crhbp	T	C	13: 95,568,515 (GRCm39)	Q307R	probably damaging	Het
Cst3	A	G	2: 148,714,741 (GRCm39)	M112T	probably benign	Het
Dgkb	A	G	12: 38,189,425 (GRCm39)	E276G	probably damaging	Het
Exoc4	T	A	6: 33,735,001 (GRCm39)	N539K	probably benign	Het
Gm3099	A	G	14: 15,345,429 (GRCm39)	E85G	probably benign	Het
Gpatch2	A	G	1: 186,957,698 (GRCm39)		probably null	Het
Hs3st5	T	A	10: 36,704,776 (GRCm39)	Y26*	probably null	Het
Hspg2	A	T	4: 137,244,148 (GRCm39)	D802V	probably damaging	Het
Ifih1	A	G	2: 62,431,813 (GRCm39)	V846A	possibly damaging	Het
Lama4	T	A	10: 38,964,840 (GRCm39)	S1402T	probably benign	Het
Lrmda	A	G	14: 22,648,388 (GRCm39)	T73A	unknown	Het
Lrrc1	A	T	9: 77,349,471 (GRCm39)	V365E	probably damaging	Het
Lrrc37a	T	A	11: 103,393,868 (GRCm39)	Q519L	probably benign	Het
Mlc1	G	T	15: 88,862,107 (GRCm39)	D36E	probably benign	Het
Mrc2	A	T	11: 105,223,092 (GRCm39)	D445V	probably damaging	Het
Muc16	A	G	9: 18,550,760 (GRCm39)	S5178P	probably benign	Het
Nbea	A	G	3: 55,573,110 (GRCm39)	I2491T	probably damaging	Het
Ncoa1	A	G	12: 4,389,044 (GRCm39)	I77T	probably damaging	Het
Npepps	G	T	11: 97,109,474 (GRCm39)	H701N	probably damaging	Het
Or4n4b	T	G	14: 50,536,041 (GRCm39)	T242P	probably damaging	Het
Or7g22	A	T	9: 19,048,831 (GRCm39)	I181F	possibly damaging	Het
Pclo	T	TTCTAG	5: 14,764,209 (GRCm39)		probably null	Het
Pclo	GTCTAT	GTCTATTCTAT	5: 14,764,204 (GRCm39)		probably null	Het
Pclo	TCTAT	TCTATACTAT	5: 14,764,205 (GRCm39)		probably null	Het
Pi4kb	T	C	3: 94,906,387 (GRCm39)	Y645H	probably damaging	Het
Pik3r5	C	T	11: 68,383,528 (GRCm39)	A449V	possibly damaging	Het
Plat	A	G	8: 23,261,736 (GRCm39)	T45A	probably benign	Het
Platr25	T	C	13: 62,848,676 (GRCm39)	K62R	possibly damaging	Het
Ppp5c	A	G	7: 16,740,111 (GRCm39)	V410A	possibly damaging	Het
Prdm2	C	T	4: 142,861,140 (GRCm39)	A717T	probably benign	Het
Ptpn12	A	C	5: 21,203,523 (GRCm39)	S418R	possibly damaging	Het
Rint1	A	G	5: 24,010,642 (GRCm39)	S255G	probably benign	Het
Rmc1	T	C	18: 12,322,371 (GRCm39)	L608P	probably damaging	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Stab2	T	C	10: 86,714,776 (GRCm39)	H1581R	probably benign	Het
Stau2	T	C	1: 16,530,577 (GRCm39)	Y114C	unknown	Het
Ticam1	T	C	17: 56,578,067 (GRCm39)	T343A	probably benign	Het
Tmem131l	T	C	3: 83,817,724 (GRCm39)	K1259E	possibly damaging	Het
Vmn2r103	T	A	17: 20,013,385 (GRCm39)	F169I	probably benign	Het
Vps33a	T	C	5: 123,673,312 (GRCm39)	K425E	possibly damaging	Het
Vwa8	T	C	14: 79,258,089 (GRCm39)	M746T	probably benign	Het
Zc3hav1	A	G	6: 38,313,598 (GRCm39)	I149T	possibly damaging	Het
Zfp708	A	T	13: 67,222,193 (GRCm39)	D62E	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
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
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
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'- AAGGACCGGTTCTCTCAGTC -3'
(R):5'- GGTTTTCAAGCGTGAGAACG -3'

Sequencing Primer
(F):5'- GACCGGTTCTCTCAGTCGTTCAG -3'
(R):5'- TGAGAACGCCGGGTGAC -3'

Posted On

2019-12-20