Incidental Mutation 'R0834:Ssh2'
ID 77745
Institutional Source Beutler Lab
Gene Symbol Ssh2
Ensembl Gene ENSMUSG00000037926
Gene Name slingshot protein phosphatase 2
Synonyms SSH-2
MMRRC Submission 039013-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R0834 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 77107113-77351046 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77328459 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 336 (Y336H)
Ref Sequence ENSEMBL: ENSMUSP00000042625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037912] [ENSMUST00000181283]
AlphaFold Q5SW75
Predicted Effect possibly damaging
Transcript: ENSMUST00000037912
AA Change: Y336H

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000042625
Gene: ENSMUSG00000037926
AA Change: Y336H

DomainStartEndE-ValueType
low complexity region 9 18 N/A INTRINSIC
Pfam:DEK_C 251 302 3.1e-13 PFAM
DSPc 307 445 2.2e-41 SMART
low complexity region 459 469 N/A INTRINSIC
low complexity region 871 882 N/A INTRINSIC
low complexity region 1002 1014 N/A INTRINSIC
low complexity region 1370 1385 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000181283
AA Change: Y342H

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000137933
Gene: ENSMUSG00000037926
AA Change: Y342H

DomainStartEndE-ValueType
Pfam:DEK_C 256 309 1.7e-18 PFAM
DSPc 313 451 2.2e-41 SMART
low complexity region 465 475 N/A INTRINSIC
low complexity region 877 888 N/A INTRINSIC
low complexity region 1008 1020 N/A INTRINSIC
low complexity region 1376 1391 N/A INTRINSIC
Meta Mutation Damage Score 0.3143 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.7%
Validation Efficiency 100% (86/86)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein tyrosine phosphatase that plays a key role in the regulation of actin filaments. The encoded protein dephosphorylates and activates cofilin, which promotes actin filament depolymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 A T 6: 86,063,899 (GRCm39) E66V probably damaging Het
Aldh1a3 T C 7: 66,062,658 (GRCm39) I156V probably benign Het
Ang4 T A 14: 52,001,725 (GRCm39) K74N probably benign Het
Arcn1 A T 9: 44,670,172 (GRCm39) probably benign Het
Arhgef33 T A 17: 80,655,026 (GRCm39) probably benign Het
Atn1 A G 6: 124,720,188 (GRCm39) probably benign Het
Bmal2 A G 6: 146,724,185 (GRCm39) H359R probably damaging Het
Bmerb1 T C 16: 13,911,795 (GRCm39) L47P probably damaging Het
Brip1 T C 11: 86,083,653 (GRCm39) T123A probably benign Het
Camkv A G 9: 107,823,045 (GRCm39) Y95C probably damaging Het
Cdk12 T A 11: 98,095,211 (GRCm39) S340T probably benign Het
Ckap2l G A 2: 129,138,224 (GRCm39) probably benign Het
Clmn A T 12: 104,738,085 (GRCm39) L1042Q probably damaging Het
Clmn G T 12: 104,738,086 (GRCm39) L1042M probably damaging Het
Cluh T C 11: 74,554,631 (GRCm39) V737A probably benign Het
Cpne8 A G 15: 90,424,462 (GRCm39) V309A probably benign Het
Cpxm2 T A 7: 131,756,342 (GRCm39) probably benign Het
Csmd3 A T 15: 47,747,073 (GRCm39) probably benign Het
Ctr9 T A 7: 110,650,159 (GRCm39) S818T probably benign Het
Cyp26a1 C T 19: 37,688,405 (GRCm39) A309V probably damaging Het
Dbndd2 C T 2: 164,332,122 (GRCm39) T115I possibly damaging Het
Dhcr7 A G 7: 143,394,964 (GRCm39) N157S probably benign Het
Dlx2 C A 2: 71,375,859 (GRCm39) V155F probably damaging Het
Duox1 A T 2: 122,176,982 (GRCm39) I1470F probably damaging Het
Esrrb A T 12: 86,517,071 (GRCm39) I68F probably benign Het
Fhod3 T A 18: 25,248,862 (GRCm39) L1347* probably null Het
Fip1l1 T C 5: 74,755,721 (GRCm39) probably benign Het
Frem3 A G 8: 81,413,637 (GRCm39) Y1966C probably damaging Het
Gatd3a T C 10: 77,998,539 (GRCm39) D229G probably damaging Het
Ggt5 C T 10: 75,440,604 (GRCm39) R242C possibly damaging Het
Gm14496 G A 2: 181,637,480 (GRCm39) V185I probably benign Het
Gnptab T C 10: 88,265,814 (GRCm39) V409A probably damaging Het
Gramd1a A G 7: 30,837,589 (GRCm39) F390S possibly damaging Het
Helz2 A G 2: 180,872,570 (GRCm39) S2477P probably damaging Het
Hsd17b3 T C 13: 64,236,936 (GRCm39) K3E probably benign Het
Ift172 T C 5: 31,414,715 (GRCm39) H1395R probably benign Het
Jam2 T A 16: 84,609,855 (GRCm39) C180S probably damaging Het
Kalrn A C 16: 33,870,289 (GRCm39) S160A possibly damaging Het
Kcnk3 T C 5: 30,779,979 (GRCm39) I343T probably damaging Het
Kif13a T C 13: 46,967,712 (GRCm39) E334G probably damaging Het
Klhl41 A G 2: 69,508,491 (GRCm39) K482E possibly damaging Het
Lig3 A G 11: 82,689,113 (GRCm39) E794G probably damaging Het
Myh13 T C 11: 67,240,436 (GRCm39) M780T possibly damaging Het
Ndst2 A G 14: 20,779,761 (GRCm39) Y160H probably damaging Het
Ndufb10 T C 17: 24,941,648 (GRCm39) M90V probably damaging Het
Obscn T C 11: 59,024,104 (GRCm39) K522R probably benign Het
Olfml2b T C 1: 170,475,413 (GRCm39) S113P probably benign Het
Or14a257 T A 7: 86,138,698 (GRCm39) E20D probably benign Het
Or4a78 A G 2: 89,497,423 (GRCm39) I269T probably benign Het
Or4d10b T A 19: 12,036,979 (GRCm39) M46L probably benign Het
Or51v14 T C 7: 103,261,444 (GRCm39) T39A probably benign Het
Or6k2 T A 1: 173,986,930 (GRCm39) M197K possibly damaging Het
Parg T C 14: 31,936,511 (GRCm39) probably benign Het
Pde7a C T 3: 19,284,482 (GRCm39) C367Y probably damaging Het
Pigr T A 1: 130,772,281 (GRCm39) C166* probably null Het
Pip4k2c A T 10: 127,036,704 (GRCm39) probably benign Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Prkd2 A T 7: 16,599,602 (GRCm39) probably benign Het
Ptprt G T 2: 161,654,059 (GRCm39) probably null Het
Rapgef5 C T 12: 117,610,741 (GRCm39) probably benign Het
Retreg1 T C 15: 25,971,756 (GRCm39) L356P probably benign Het
Rigi T A 4: 40,239,596 (GRCm39) E34V possibly damaging Het
Rnf43 A G 11: 87,622,077 (GRCm39) T393A probably benign Het
Samd3 T C 10: 26,147,725 (GRCm39) S467P probably benign Het
Scarf1 C A 11: 75,405,229 (GRCm39) C89* probably null Het
Sdk1 T C 5: 141,227,779 (GRCm39) L59S probably benign Het
Sgca C T 11: 94,861,512 (GRCm39) W244* probably null Het
Sh3d21 T C 4: 126,045,065 (GRCm39) K538R probably benign Het
Smyd4 T A 11: 75,281,958 (GRCm39) L477Q possibly damaging Het
Sra1 A G 18: 36,801,829 (GRCm39) M87T probably benign Het
Steap1 T C 5: 5,790,357 (GRCm39) Y197C probably damaging Het
Strn3 A G 12: 51,673,879 (GRCm39) probably benign Het
Tgm3 A G 2: 129,868,677 (GRCm39) T205A probably benign Het
Tll2 G A 19: 41,101,512 (GRCm39) T374I probably damaging Het
Tmem63b C A 17: 45,971,870 (GRCm39) D782Y possibly damaging Het
Trim10 G A 17: 37,183,283 (GRCm39) S193N probably benign Het
Ttf1 A T 2: 28,963,962 (GRCm39) K613* probably null Het
Tube1 T A 10: 39,010,168 (GRCm39) probably null Het
Uimc1 T A 13: 55,224,222 (GRCm39) probably null Het
Wwp2 G T 8: 108,283,428 (GRCm39) probably benign Het
Zfp101 C T 17: 33,601,418 (GRCm39) V113I probably benign Het
Zfp292 T C 4: 34,809,114 (GRCm39) D1310G probably benign Het
Zfp575 A T 7: 24,285,245 (GRCm39) L132H probably damaging Het
Zmym2 T C 14: 57,194,420 (GRCm39) F1226S probably damaging Het
Zswim6 A C 13: 107,862,989 (GRCm39) noncoding transcript Het
Other mutations in Ssh2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00811:Ssh2 APN 11 77,332,752 (GRCm39) missense probably damaging 1.00
IGL01141:Ssh2 APN 11 77,340,552 (GRCm39) missense probably damaging 1.00
IGL01520:Ssh2 APN 11 77,340,732 (GRCm39) missense probably damaging 1.00
IGL01803:Ssh2 APN 11 77,316,156 (GRCm39) missense probably damaging 0.99
IGL01989:Ssh2 APN 11 77,344,511 (GRCm39) missense possibly damaging 0.79
IGL02322:Ssh2 APN 11 77,307,239 (GRCm39) critical splice acceptor site probably null
IGL02466:Ssh2 APN 11 77,307,233 (GRCm39) splice site probably benign
IGL02683:Ssh2 APN 11 77,289,082 (GRCm39) missense probably damaging 0.99
IGL02706:Ssh2 APN 11 77,344,232 (GRCm39) missense possibly damaging 0.68
IGL02719:Ssh2 APN 11 77,316,413 (GRCm39) missense probably damaging 1.00
IGL02721:Ssh2 APN 11 77,345,551 (GRCm39) nonsense probably null
IGL02732:Ssh2 APN 11 77,328,602 (GRCm39) splice site probably null
IGL02745:Ssh2 APN 11 77,346,233 (GRCm39) missense probably damaging 1.00
IGL02993:Ssh2 APN 11 77,344,370 (GRCm39) missense probably damaging 1.00
IGL03000:Ssh2 APN 11 77,312,032 (GRCm39) splice site probably benign
david UTSW 11 77,316,419 (GRCm39) missense probably damaging 1.00
faba UTSW 11 77,332,811 (GRCm39) missense probably damaging 1.00
goliath UTSW 11 77,344,349 (GRCm39) missense possibly damaging 0.48
Vicia UTSW 11 77,345,792 (GRCm39) missense possibly damaging 0.68
IGL03055:Ssh2 UTSW 11 77,299,021 (GRCm39) nonsense probably null
R0024:Ssh2 UTSW 11 77,345,792 (GRCm39) missense possibly damaging 0.68
R0374:Ssh2 UTSW 11 77,298,969 (GRCm39) missense probably damaging 1.00
R0539:Ssh2 UTSW 11 77,345,620 (GRCm39) missense probably benign 0.11
R1714:Ssh2 UTSW 11 77,344,850 (GRCm39) missense possibly damaging 0.94
R1743:Ssh2 UTSW 11 77,328,582 (GRCm39) missense probably damaging 1.00
R1889:Ssh2 UTSW 11 77,340,571 (GRCm39) missense probably damaging 1.00
R1895:Ssh2 UTSW 11 77,340,571 (GRCm39) missense probably damaging 1.00
R3945:Ssh2 UTSW 11 77,345,494 (GRCm39) missense possibly damaging 0.93
R3947:Ssh2 UTSW 11 77,289,082 (GRCm39) missense probably damaging 0.99
R3948:Ssh2 UTSW 11 77,289,082 (GRCm39) missense probably damaging 0.99
R4133:Ssh2 UTSW 11 77,312,095 (GRCm39) missense probably damaging 1.00
R4256:Ssh2 UTSW 11 77,299,009 (GRCm39) missense possibly damaging 0.48
R4499:Ssh2 UTSW 11 77,283,893 (GRCm39) nonsense probably null
R4548:Ssh2 UTSW 11 77,341,010 (GRCm39) missense probably benign 0.20
R4644:Ssh2 UTSW 11 77,340,402 (GRCm39) missense possibly damaging 0.46
R4690:Ssh2 UTSW 11 77,346,031 (GRCm39) missense possibly damaging 0.62
R4788:Ssh2 UTSW 11 77,320,624 (GRCm39) missense probably damaging 1.00
R4919:Ssh2 UTSW 11 77,316,146 (GRCm39) missense possibly damaging 0.91
R5014:Ssh2 UTSW 11 77,346,102 (GRCm39) nonsense probably null
R5380:Ssh2 UTSW 11 77,344,771 (GRCm39) missense probably benign 0.01
R5574:Ssh2 UTSW 11 77,340,941 (GRCm39) missense probably benign
R5593:Ssh2 UTSW 11 77,312,192 (GRCm39) missense probably damaging 0.99
R5739:Ssh2 UTSW 11 77,340,639 (GRCm39) missense probably damaging 1.00
R6180:Ssh2 UTSW 11 77,344,291 (GRCm39) missense probably benign 0.43
R6542:Ssh2 UTSW 11 77,340,976 (GRCm39) missense possibly damaging 0.94
R6713:Ssh2 UTSW 11 77,340,259 (GRCm39) missense possibly damaging 0.89
R7108:Ssh2 UTSW 11 77,345,620 (GRCm39) missense probably benign
R7124:Ssh2 UTSW 11 77,345,164 (GRCm39) missense probably benign 0.00
R7255:Ssh2 UTSW 11 77,316,419 (GRCm39) missense probably damaging 1.00
R7332:Ssh2 UTSW 11 77,344,349 (GRCm39) missense possibly damaging 0.48
R7362:Ssh2 UTSW 11 77,340,476 (GRCm39) missense probably benign 0.01
R7395:Ssh2 UTSW 11 77,283,899 (GRCm39) missense probably damaging 0.99
R7412:Ssh2 UTSW 11 77,340,934 (GRCm39) missense probably damaging 0.98
R7493:Ssh2 UTSW 11 77,328,542 (GRCm39) missense probably benign 0.16
R7686:Ssh2 UTSW 11 77,316,150 (GRCm39) missense possibly damaging 0.89
R7870:Ssh2 UTSW 11 77,344,441 (GRCm39) missense probably benign
R7895:Ssh2 UTSW 11 77,345,452 (GRCm39) missense probably benign 0.41
R7963:Ssh2 UTSW 11 77,312,182 (GRCm39) missense possibly damaging 0.93
R8030:Ssh2 UTSW 11 77,345,332 (GRCm39) missense probably benign 0.01
R8065:Ssh2 UTSW 11 77,332,811 (GRCm39) missense probably damaging 1.00
R8099:Ssh2 UTSW 11 77,345,755 (GRCm39) nonsense probably null
R8294:Ssh2 UTSW 11 77,345,027 (GRCm39) missense probably benign 0.08
R8464:Ssh2 UTSW 11 77,345,079 (GRCm39) nonsense probably null
R8469:Ssh2 UTSW 11 77,340,434 (GRCm39) missense probably benign 0.41
R8547:Ssh2 UTSW 11 77,340,533 (GRCm39) missense probably benign 0.10
R8677:Ssh2 UTSW 11 77,346,019 (GRCm39) missense possibly damaging 0.77
R8758:Ssh2 UTSW 11 77,344,843 (GRCm39) missense probably benign
R9029:Ssh2 UTSW 11 77,328,454 (GRCm39) missense probably damaging 1.00
R9030:Ssh2 UTSW 11 77,312,062 (GRCm39) missense possibly damaging 0.63
R9126:Ssh2 UTSW 11 77,346,102 (GRCm39) nonsense probably null
R9146:Ssh2 UTSW 11 77,328,502 (GRCm39) missense probably damaging 0.98
R9377:Ssh2 UTSW 11 77,298,974 (GRCm39) missense possibly damaging 0.95
R9483:Ssh2 UTSW 11 77,283,976 (GRCm39) missense possibly damaging 0.81
R9615:Ssh2 UTSW 11 77,316,203 (GRCm39) missense possibly damaging 0.48
RF018:Ssh2 UTSW 11 77,344,880 (GRCm39) missense probably damaging 0.99
X0017:Ssh2 UTSW 11 77,332,724 (GRCm39) missense probably damaging 1.00
Z1088:Ssh2 UTSW 11 77,340,321 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCAGCTCTCCACAGATCTTCACAG -3'
(R):5'- TCAGTCTCACCACAGTCTCAGCTAC -3'

Sequencing Primer
(F):5'- CAACATAAATTGCTAGGTTGTGGG -3'
(R):5'- AGTCTCAGCTACACTGTGGAG -3'
Posted On 2013-10-16