Mutagenetix > Incidental Mutation

Incidental Mutation 'R5361:Pstpip2'

422845

Institutional Source

Beutler Lab

Gene Symbol

Pstpip2

Ensembl Gene

ENSMUSG00000025429

Gene Name

proline-serine-threonine phosphatase-interacting protein 2

Synonyms

cmo

MMRRC Submission

042940-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5361 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77882250-77971462 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77958078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 150 (D150G)

Ref Sequence

ENSEMBL: ENSMUSP00000110389 (fasta)

Gene Model

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

AlphaFold

Q99M15

Predicted Effect

probably damaging
Transcript: ENSMUST00000114741
AA Change: D150G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110389
Gene: ENSMUSG00000025429
AA Change: D150G

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	A	9: 57,164,468 (GRCm39)	K635N	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ahnak	T	A	19: 8,992,705 (GRCm39)	M4663K	possibly damaging	Het
C4b	T	A	17: 34,960,212 (GRCm39)	T280S	probably benign	Het
Ccdc166	A	G	15: 75,852,869 (GRCm39)	V366A	probably benign	Het
Cdh23	A	G	10: 60,493,044 (GRCm39)		probably null	Het
Col7a1	A	G	9: 108,792,292 (GRCm39)	T1281A	unknown	Het
Cul9	TTCCTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCCTC	17: 46,811,775 (GRCm39)		probably benign	Het
Dbndd1	T	A	8: 124,233,484 (GRCm39)	D127V	probably damaging	Het
Ddx20	T	A	3: 105,590,825 (GRCm39)	E197V	probably damaging	Het
Dennd10	A	G	19: 60,814,324 (GRCm39)	M96V	probably benign	Het
Dnm3	A	G	1: 161,838,471 (GRCm39)	S826P	probably damaging	Het
Dnmt3a	T	C	12: 3,945,643 (GRCm39)	V24A	probably benign	Het
Dop1b	C	A	16: 93,567,392 (GRCm39)	A1273E	probably damaging	Het
Dsg1c	T	C	18: 20,416,703 (GRCm39)	V868A	possibly damaging	Het
Dtx4	A	G	19: 12,462,626 (GRCm39)		probably null	Het
Elovl4	A	G	9: 83,672,154 (GRCm39)	L55P	possibly damaging	Het
Fbxo40	T	A	16: 36,789,914 (GRCm39)	T399S	possibly damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Gm14399	T	C	2: 174,973,371 (GRCm39)	E96G	probably damaging	Het
Gm14496	T	G	2: 181,642,147 (GRCm39)	V606G	probably benign	Het
Gpr156	A	G	16: 37,826,087 (GRCm39)	E768G	probably damaging	Het
Grm5	A	T	7: 87,723,704 (GRCm39)	T665S	probably damaging	Het
Hsdl2	A	G	4: 59,592,301 (GRCm39)		probably benign	Het
Htt	T	C	5: 35,064,928 (GRCm39)	V3047A	possibly damaging	Het
Igkv3-2	A	T	6: 70,676,011 (GRCm39)	T107S	probably benign	Het
Insyn2b	G	A	11: 34,352,788 (GRCm39)	E277K	probably damaging	Het
Itih2	T	A	2: 10,101,272 (GRCm39)	T899S	probably benign	Het
Lhcgr	T	A	17: 89,050,281 (GRCm39)	Y415F	probably damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Med4	C	A	14: 73,747,553 (GRCm39)	S18*	probably null	Het
Nefl	T	C	14: 68,322,088 (GRCm39)	V226A	probably damaging	Het
Nploc4	T	A	11: 120,275,389 (GRCm39)	N516Y	probably damaging	Het
Or1o4	A	G	17: 37,590,501 (GRCm39)	V270A	probably benign	Het
Or6c66	A	T	10: 129,461,601 (GRCm39)	F110I	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdha3	T	G	18: 37,079,752 (GRCm39)	L165V	possibly damaging	Het
Pcdhb12	T	A	18: 37,570,099 (GRCm39)	V415D	probably damaging	Het
Pcdhga10	T	C	18: 37,880,503 (GRCm39)	I88T	probably damaging	Het
Pigyl	T	A	9: 22,069,292 (GRCm39)	M1K	probably null	Het
Prr27	T	C	5: 87,991,203 (GRCm39)	S272P	probably damaging	Het
Prss3	C	T	6: 41,350,780 (GRCm39)	D237N	probably benign	Het
Robo4	T	A	9: 37,324,674 (GRCm39)	D909E	probably benign	Het
Serpinb3c	A	T	1: 107,204,661 (GRCm39)	Y28*	probably null	Het
Slc26a3	T	C	12: 31,500,980 (GRCm39)		probably null	Het
Slc6a1	A	T	6: 114,279,493 (GRCm39)	I91F	probably benign	Het
Smcr8	T	G	11: 60,669,118 (GRCm39)	Y89D	probably damaging	Het
Sspo	T	A	6: 48,443,247 (GRCm39)	M1898K	probably benign	Het
Tbl1xr1	T	A	3: 22,246,233 (GRCm39)	I251K	probably damaging	Het
Thbs4	C	T	13: 92,913,501 (GRCm39)	D140N	probably benign	Het
Tmbim6	G	A	15: 99,303,633 (GRCm39)	A108T	probably benign	Het
Trim10	T	G	17: 37,186,328 (GRCm39)	L301R	probably benign	Het
Trpm7	A	T	2: 126,671,161 (GRCm39)	I607N	possibly damaging	Het
Vmn2r9	T	A	5: 108,995,929 (GRCm39)	I240F	probably damaging	Het
Xpot	T	A	10: 121,436,765 (GRCm39)	I873F	possibly damaging	Het
Zfhx4	G	A	3: 5,464,267 (GRCm39)	S1475N	probably damaging	Het
Zfp712	A	G	13: 67,189,079 (GRCm39)	S483P	possibly damaging	Het
Zswim7	A	T	11: 62,158,373 (GRCm39)	H122Q	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
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'- CTCTGAGAGCCTGATCTACAGC -3'
(R):5'- TTTCACTGTGCAGCCCAGTC -3'

Sequencing Primer
(F):5'- CACCAATCAGAGCTCGGTTG -3'
(R):5'- CTCATGCCCTTCTGAGAACTAGAATG -3'

Posted On

2016-08-04