Incidental Mutation 'R9179:Pstpip2'
ID 696920
Institutional Source Beutler Lab
Gene Symbol Pstpip2
Ensembl Gene ENSMUSG00000025429
Gene Name proline-serine-threonine phosphatase-interacting protein 2
Synonyms cmo
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9179 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 77882250-77971462 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77961155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 246 (D246G)
Ref Sequence ENSEMBL: ENSMUSP00000110389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114741]
AlphaFold Q99M15
Predicted Effect possibly damaging
Transcript: ENSMUST00000114741
AA Change: D246G

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110389
Gene: ENSMUSG00000025429
AA Change: D246G

DomainStartEndE-ValueType
FCH 13 98 7.62e-16 SMART
Meta Mutation Damage Score 0.7862 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (54/55)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik T A 6: 124,333,882 (GRCm39) M33L probably benign Het
2310003L06Rik A G 5: 88,119,890 (GRCm39) T216A probably benign Het
9330161L09Rik A C 12: 103,373,837 (GRCm39) C12G unknown Het
Ahdc1 T A 4: 132,788,929 (GRCm39) F57I possibly damaging Het
Amotl1 C A 9: 14,461,787 (GRCm39) A809S possibly damaging Het
Ankfn1 C T 11: 89,414,011 (GRCm39) M121I probably benign Het
Aspm A G 1: 139,404,453 (GRCm39) D1261G probably damaging Het
Axl T C 7: 25,469,658 (GRCm39) T502A probably damaging Het
Catsperd G A 17: 56,968,252 (GRCm39) D546N probably benign Het
Ccdc102a A G 8: 95,639,748 (GRCm39) V182A possibly damaging Het
Cdh23 C T 10: 60,153,664 (GRCm39) A2309T probably benign Het
Cfap69 A T 5: 5,676,064 (GRCm39) N210K probably benign Het
Cnot1 A G 8: 96,500,054 (GRCm39) S147P probably benign Het
Cntnap5c T C 17: 58,600,912 (GRCm39) S752P probably benign Het
Cyp3a41a A T 5: 145,642,654 (GRCm39) M235K probably benign Het
Cyp4f15 A G 17: 32,919,185 (GRCm39) D336G possibly damaging Het
Dagla A G 19: 10,228,525 (GRCm39) I631T possibly damaging Het
Dph6 C T 2: 114,353,591 (GRCm39) C199Y probably damaging Het
Ermard T A 17: 15,273,495 (GRCm39) L360Q probably damaging Het
F830045P16Rik T C 2: 129,314,708 (GRCm39) T190A probably benign Het
Fgfr3 G T 5: 33,887,316 (GRCm39) V212L possibly damaging Het
Flnb C A 14: 7,887,541 (GRCm38) C450* probably null Het
Gls T C 1: 52,239,015 (GRCm39) Y362C probably damaging Het
Gngt1 A G 6: 3,994,246 (GRCm39) D8G possibly damaging Het
Gns T C 10: 121,216,080 (GRCm39) F276L Het
Grin2d A G 7: 45,506,176 (GRCm39) S572P probably damaging Het
Impa2 C T 18: 67,422,473 (GRCm39) probably benign Het
Itgal A T 7: 126,905,883 (GRCm39) D355V probably benign Het
Kdm6b A T 11: 69,297,521 (GRCm39) probably null Het
Klk1b1 T A 7: 43,618,715 (GRCm39) C31S probably damaging Het
Ldb3 A T 14: 34,277,312 (GRCm39) V354E probably benign Het
Mettl21c T A 1: 44,049,142 (GRCm39) Y135F probably benign Het
Mocs1 A G 17: 49,740,303 (GRCm39) T77A probably damaging Het
Ndufs1 T C 1: 63,209,274 (GRCm39) N30D probably benign Het
Or1j11 T C 2: 36,312,126 (GRCm39) S239P probably damaging Het
Or4a71 T A 2: 89,358,494 (GRCm39) K87* probably null Het
Otog C A 7: 45,937,885 (GRCm39) P1865T possibly damaging Het
Pabpc1l T C 2: 163,873,140 (GRCm39) S137P probably damaging Het
Pilrb1 C A 5: 137,855,657 (GRCm39) W78L probably damaging Het
Plekha6 A G 1: 133,214,085 (GRCm39) Y832C possibly damaging Het
Ppan C A 9: 20,803,199 (GRCm39) Q424K probably benign Het
Ppp1r12a T A 10: 108,087,782 (GRCm39) N544K probably damaging Het
Pramel16 T C 4: 143,676,294 (GRCm39) E270G probably benign Het
Rasef G A 4: 73,662,356 (GRCm39) T198I probably damaging Het
Rbm12 T C 2: 155,938,463 (GRCm39) H603R probably benign Het
Rims1 T C 1: 22,482,490 (GRCm39) R179G probably damaging Het
Scel T C 14: 103,811,836 (GRCm39) L288P possibly damaging Het
Sel1l A T 12: 91,778,726 (GRCm39) D696E probably benign Het
Slc4a8 A G 15: 100,689,482 (GRCm39) K416R possibly damaging Het
Tmem132b A T 5: 125,700,115 (GRCm39) M218L probably benign Het
Tnrc6a T C 7: 122,791,881 (GRCm39) S1800P probably benign Het
Tpcn1 A C 5: 120,680,015 (GRCm39) L576R probably damaging Het
Vmn2r34 T G 7: 7,675,723 (GRCm39) Q555P possibly damaging Het
Vwa8 C T 14: 79,335,801 (GRCm39) T1419I probably benign Het
Xrn2 T C 2: 146,855,081 (GRCm39) Y14H probably benign Het
Zfp1007 A G 5: 109,823,708 (GRCm39) C581R probably damaging Het
Zfyve28 A T 5: 34,382,376 (GRCm39) D241E probably benign Het
Other mutations in Pstpip2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
X0065:Pstpip2 UTSW 18 77,967,061 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- ATCTGCACAGTTAGCTATTATGGG -3'
(R):5'- GACCAGGCATTGTCACACAG -3'

Sequencing Primer
(F):5'- CACCCCTCAGTATAGGTTAAGTTTG -3'
(R):5'- ATTGTCACACAGGCGGTAGC -3'
Posted On 2022-02-07