Incidental Mutation 'R7332:Ssh2'
ID 569309
Institutional Source Beutler Lab
Gene Symbol Ssh2
Ensembl Gene ENSMUSG00000037926
Gene Name slingshot protein phosphatase 2
Synonyms SSH-2
MMRRC Submission 045425-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R7332 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 77107113-77351046 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 77344349 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 778 (I778N)
Ref Sequence ENSEMBL: ENSMUSP00000137933 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037912] [ENSMUST00000181283]
AlphaFold Q5SW75
Predicted Effect possibly damaging
Transcript: ENSMUST00000037912
AA Change: I772N

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000042625
Gene: ENSMUSG00000037926
AA Change: I772N

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: I778N

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000137933
Gene: ENSMUSG00000037926
AA Change: I778N

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 0.1925 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (68/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l2 A G 19: 56,906,553 (GRCm39) S449P probably damaging Het
Atp6v0c A C 17: 24,388,198 (GRCm39) S21A probably benign Het
Cacna1e T C 1: 154,601,547 (GRCm39) Y40C possibly damaging Het
Cdadc1 A G 14: 59,813,213 (GRCm39) I398T possibly damaging Het
Cfap44 T A 16: 44,250,191 (GRCm39) D756E probably damaging Het
Clcnkb A T 4: 141,141,243 (GRCm39) L104Q probably null Het
Clk1 G A 1: 58,451,853 (GRCm39) H421Y probably benign Het
Cmpk2 A T 12: 26,528,061 (GRCm39) D426V probably damaging Het
Cmya5 A G 13: 93,229,061 (GRCm39) L2009S possibly damaging Het
Col5a2 C G 1: 45,419,325 (GRCm39) D1252H probably damaging Het
Coro1b A G 19: 4,199,356 (GRCm39) K5R probably benign Het
Csmd2 A G 4: 128,313,360 (GRCm39) T1346A Het
Csrp1 G T 1: 135,667,149 (GRCm39) W4L probably benign Het
Cyp3a25 A G 5: 145,929,817 (GRCm39) I184T probably damaging Het
Egfl7 C A 2: 26,480,725 (GRCm39) R128S probably benign Het
Fggy A T 4: 95,511,719 (GRCm39) N157I probably damaging Het
Gldc A T 19: 30,093,926 (GRCm39) L697Q probably damaging Het
Gm4952 T A 19: 12,604,373 (GRCm39) Y262N probably damaging Het
Gsap T A 5: 21,495,119 (GRCm39) M821K probably benign Het
Hps1 T C 19: 42,766,351 (GRCm39) probably null Het
Hsbp1l1 T C 18: 80,280,038 (GRCm39) probably benign Het
Igfbp7 G A 5: 77,499,803 (GRCm39) T220I probably damaging Het
Ints3 T C 3: 90,322,819 (GRCm39) Q137R probably damaging Het
Kcna6 A G 6: 126,716,292 (GRCm39) F199S possibly damaging Het
Kirrel1 T C 3: 86,995,705 (GRCm39) I410V probably benign Het
Llgl2 T C 11: 115,739,125 (GRCm39) V332A probably damaging Het
Lrrc27 A G 7: 138,822,661 (GRCm39) I517M probably damaging Het
Mas1 T C 17: 13,061,106 (GRCm39) T106A probably benign Het
Mast4 T A 13: 102,887,932 (GRCm39) Y1159F possibly damaging Het
Mmp2 A G 8: 93,576,780 (GRCm39) D601G probably damaging Het
Mycbp2 T A 14: 103,434,793 (GRCm39) I2217F probably damaging Het
Mycbp2 A G 14: 103,393,889 (GRCm39) S2891P probably damaging Het
Naip6 A G 13: 100,437,209 (GRCm39) V438A possibly damaging Het
Or4g17 A G 2: 111,209,738 (GRCm39) H131R not run Het
Pdf T C 8: 107,775,173 (GRCm39) R20G probably benign Het
Pfdn2 T C 1: 171,184,162 (GRCm39) L47P probably damaging Het
Pik3c2g C A 6: 139,841,981 (GRCm39) N795K Het
Ppip5k1 A T 2: 121,142,450 (GRCm39) V1333D probably damaging Het
Pramel51 T C 12: 88,143,187 (GRCm39) T339A possibly damaging Het
Prss44 A T 9: 110,644,530 (GRCm39) I213F probably damaging Het
Rbm47 A G 5: 66,183,557 (GRCm39) Y349H probably damaging Het
Rcl1 A T 19: 29,108,096 (GRCm39) T253S probably benign Het
Rdh1 A G 10: 127,595,754 (GRCm39) probably benign Het
Scn7a C T 2: 66,522,898 (GRCm39) W935* probably null Het
Sec24b T C 3: 129,835,042 (GRCm39) N52S probably benign Het
Serpinb5 A T 1: 106,800,091 (GRCm39) I94L probably benign Het
Setx T C 2: 29,036,638 (GRCm39) V1041A probably benign Het
Slco3a1 G A 7: 73,968,232 (GRCm39) A496V possibly damaging Het
Spag5 T A 11: 78,204,205 (GRCm39) L486* probably null Het
Spink5 T C 18: 44,115,317 (GRCm39) I183T probably damaging Het
Srd5a1 T C 13: 69,759,173 (GRCm39) Y65C probably benign Het
Sstr1 C T 12: 58,260,172 (GRCm39) S265L probably damaging Het
Syne2 T A 12: 76,014,529 (GRCm39) probably null Het
Tctn1 A T 5: 122,399,547 (GRCm39) D92E probably damaging Het
Tiam2 A G 17: 3,503,644 (GRCm39) I940M probably damaging Het
Tmeff2 T C 1: 51,018,599 (GRCm39) W194R unknown Het
Tomm20 T C 8: 127,663,903 (GRCm39) T94A probably benign Het
Ucn2 A G 9: 108,815,532 (GRCm39) N98S probably benign Het
V1rd19 A T 7: 23,702,743 (GRCm39) I70L probably benign Het
Vmn1r18 A G 6: 57,367,503 (GRCm39) L17P probably benign Het
Vmn2r61 A G 7: 41,909,534 (GRCm39) T20A probably benign Het
Wdr59 G A 8: 112,220,986 (GRCm39) T182I Het
Zfp40 A T 17: 23,395,155 (GRCm39) C477* probably null Het
Zfp68 A G 5: 138,604,830 (GRCm39) S498P possibly damaging Het
Zfp729b T C 13: 67,757,755 (GRCm39) probably null Het
Zfp846 T G 9: 20,505,521 (GRCm39) N460K probably benign Het
Zim1 T C 7: 6,680,352 (GRCm39) Y437C probably damaging 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
R0834:Ssh2 UTSW 11 77,328,459 (GRCm39) missense possibly damaging 0.87
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
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'- TGATCACAGGGTTACTAAGTGAG -3'
(R):5'- TGAGTGTGTGGTCAGACAGC -3'

Sequencing Primer
(F):5'- TCAGTGAGGCCACAATTTGC -3'
(R):5'- TGTGTGGTCAGACAGCCTTCC -3'
Posted On 2019-09-13