Incidental Mutation 'R7870:Ssh2'
ID 608060
Institutional Source Beutler Lab
Gene Symbol Ssh2
Ensembl Gene ENSMUSG00000037926
Gene Name slingshot protein phosphatase 2
Synonyms SSH-2
MMRRC Submission 045922-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R7870 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 77107113-77351046 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77344441 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 809 (W809R)
Ref Sequence ENSEMBL: ENSMUSP00000137933 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037912] [ENSMUST00000181283]
AlphaFold Q5SW75
Predicted Effect probably benign
Transcript: ENSMUST00000037912
AA Change: W803R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042625
Gene: ENSMUSG00000037926
AA Change: W803R

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 probably benign
Transcript: ENSMUST00000181283
AA Change: W809R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137933
Gene: ENSMUSG00000037926
AA Change: W809R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,441,505 (GRCm39) F171L probably benign Het
2410137M14Rik A T 17: 37,288,909 (GRCm39) C152S unknown Het
Alb T C 5: 90,620,488 (GRCm39) F533L possibly damaging Het
Alox12b T C 11: 69,060,135 (GRCm39) M616T possibly damaging Het
Atxn2l A G 7: 126,091,924 (GRCm39) F968L probably benign Het
Cadps2 G T 6: 23,263,641 (GRCm39) H1227Q probably benign Het
Cdh18 A T 15: 23,474,413 (GRCm39) D761V possibly damaging Het
Cdkl3 T C 11: 51,909,284 (GRCm39) probably null Het
Chrdl2 T C 7: 99,659,249 (GRCm39) L9P unknown Het
Ctr9 A G 7: 110,651,618 (GRCm39) E946G unknown Het
Cygb T A 11: 116,540,116 (GRCm39) T178S probably benign Het
Cyp2c67 A C 19: 39,597,669 (GRCm39) M443R probably damaging Het
Dnah12 A G 14: 26,578,486 (GRCm39) T3082A probably benign Het
Flnc C T 6: 29,454,306 (GRCm39) T1906I probably damaging Het
Gm14496 A G 2: 181,637,906 (GRCm39) I327V probably benign Het
Gm29106 T A 1: 118,126,885 (GRCm39) N192K possibly damaging Het
H3f3a A T 1: 180,639,490 (GRCm39) M1K probably null Het
Htt T A 5: 35,055,891 (GRCm39) W2601R possibly damaging Het
Il18r1 T A 1: 40,530,296 (GRCm39) I341K probably benign Het
Kcnj1 G A 9: 32,307,881 (GRCm39) V102I probably benign Het
Lrp3 C A 7: 34,910,922 (GRCm39) G41V probably damaging Het
Lrrc9 G T 12: 72,532,964 (GRCm39) K944N probably damaging Het
Mettl21e T A 1: 44,249,371 (GRCm39) E95V probably damaging Het
Mib1 G A 18: 10,798,446 (GRCm39) R769Q possibly damaging Het
Myh7 C G 14: 55,226,258 (GRCm39) D461H probably damaging Het
Mymk A G 2: 26,952,298 (GRCm39) S190P probably damaging Het
Neb G A 2: 52,215,761 (GRCm39) P182L probably damaging Het
Nfil3 A G 13: 53,122,449 (GRCm39) Y152H probably damaging Het
Nisch A G 14: 30,894,052 (GRCm39) Y1174H probably damaging Het
Nyap1 G C 5: 137,733,658 (GRCm39) Y458* probably null Het
Or4d5 A C 9: 40,011,973 (GRCm39) V271G possibly damaging Het
Or52z13 T A 7: 103,247,473 (GRCm39) C317S probably damaging Het
Or5h17 G A 16: 58,820,086 (GRCm39) V13I probably benign Het
Pars2 T A 4: 106,511,276 (GRCm39) Y353N probably damaging Het
Patj G T 4: 98,312,553 (GRCm39) G297V probably damaging Het
Pcdh9 A T 14: 94,124,693 (GRCm39) S492R probably damaging Het
Pcyox1 G A 6: 86,369,323 (GRCm39) R168C probably damaging Het
Plbd1 A T 6: 136,594,326 (GRCm39) Y308N possibly damaging Het
Rax A G 18: 66,071,284 (GRCm39) V117A probably benign Het
Rdh9 C A 10: 127,612,566 (GRCm39) N71K probably benign Het
Sap130 A G 18: 31,853,714 (GRCm39) N968S probably benign Het
Sema5a A T 15: 32,609,485 (GRCm39) I464F probably benign Het
Sez6l T G 5: 112,586,447 (GRCm39) D683A probably damaging Het
Slit2 C A 5: 48,459,649 (GRCm39) P1310T probably damaging Het
Snap47 T C 11: 59,328,904 (GRCm39) M133V probably benign Het
Son TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC 16: 91,453,486 (GRCm39) probably benign Het
Srcap G A 7: 127,159,730 (GRCm39) S3202N unknown Het
Stau1 G T 2: 166,792,870 (GRCm39) A365D possibly damaging Het
Tfpi2 A G 6: 3,968,281 (GRCm39) L15P probably damaging Het
Thbs1 A T 2: 117,945,508 (GRCm39) N329I possibly damaging Het
Tmem65 A T 15: 58,659,010 (GRCm39) D184E probably damaging Het
Trpm6 G T 19: 18,792,605 (GRCm39) E676D probably benign Het
Vdr T G 15: 97,782,771 (GRCm39) D17A possibly damaging Het
Vmn1r123 C T 7: 20,896,192 (GRCm39) T28I probably damaging Het
Wdr90 A G 17: 26,079,513 (GRCm39) L207P probably damaging Het
Zfp354c TGTCACACTCG TG 11: 50,706,065 (GRCm39) probably benign Het
Zfp598 A G 17: 24,898,304 (GRCm39) E402G 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
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
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'- TCATGCAATCTCACTCAGAAAATGC -3'
(R):5'- GCAAGCGCTCTTCAAACTCC -3'

Sequencing Primer
(F):5'- CTCACTCAGAAAATGCAATTTCAGTC -3'
(R):5'- TCTTCAAACTCCAGGGTGGC -3'
Posted On 2019-12-20