Incidental Mutation 'R4256:Ssh2'
ID 321823
Institutional Source Beutler Lab
Gene Symbol Ssh2
Ensembl Gene ENSMUSG00000037926
Gene Name slingshot protein phosphatase 2
Synonyms SSH-2
MMRRC Submission 041069-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R4256 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 77107113-77351046 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77299009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 112 (T112A)
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: T112A

PolyPhen 2 Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000042625
Gene: ENSMUSG00000037926
AA Change: T112A

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 noncoding transcript
Transcript: ENSMUST00000127890
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180554
Predicted Effect probably benign
Transcript: ENSMUST00000181283
AA Change: T119A

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000137933
Gene: ENSMUSG00000037926
AA Change: T119A

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 0.1480 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 93% (41/44)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik C T 14: 64,210,658 (GRCm39) R190H probably benign Het
Arsi T C 18: 61,050,388 (GRCm39) W424R probably damaging Het
Atad2 A G 15: 57,980,252 (GRCm39) S411P probably damaging Het
Cdhr2 G A 13: 54,861,818 (GRCm39) V72I probably damaging Het
Celf4 T C 18: 25,624,258 (GRCm39) I414V probably damaging Het
Cfap43 G A 19: 47,770,844 (GRCm39) T689I probably benign Het
Cpne9 C T 6: 113,259,984 (GRCm39) probably benign Het
Cyp3a11 A T 5: 145,806,005 (GRCm39) S121T probably benign Het
Dip2c C A 13: 9,659,092 (GRCm39) Q864K probably damaging Het
Fbxo3 A G 2: 103,881,510 (GRCm39) T281A probably damaging Het
Gm5148 T A 3: 37,768,758 (GRCm39) H154L unknown Het
Gsdma2 T A 11: 98,542,758 (GRCm39) probably null Het
Hfm1 T C 5: 107,052,663 (GRCm39) I273M possibly damaging Het
Hspa4l A G 3: 40,700,435 (GRCm39) E14G probably benign Het
Inava G T 1: 136,142,088 (GRCm39) N670K probably benign Het
Lgals12 T G 19: 7,584,081 (GRCm39) E5D possibly damaging Het
Lsg1 T G 16: 30,392,061 (GRCm39) I237L probably benign Het
Mettl14 T C 3: 123,177,254 (GRCm39) E49G probably damaging Het
Nbeal1 A G 1: 60,370,107 (GRCm39) I2675V probably benign Het
Or2y1e A T 11: 49,218,304 (GRCm39) Q22L probably benign Het
Or4b1b A T 2: 90,112,406 (GRCm39) V171E probably damaging Het
Or5k15 T G 16: 58,710,143 (GRCm39) S147R probably benign Het
Padi1 A T 4: 140,542,089 (GRCm39) L611Q probably damaging Het
Pcdhac2 A G 18: 37,277,764 (GRCm39) D248G probably damaging Het
Plekhm1 C A 11: 103,261,760 (GRCm39) R940L probably damaging Het
Rasa3 A G 8: 13,664,532 (GRCm39) probably null Het
Rspo2 C A 15: 42,939,307 (GRCm39) R161L probably benign Het
Sacs A G 14: 61,443,786 (GRCm39) Y1944C probably damaging Het
Slc7a10 G T 7: 34,898,140 (GRCm39) M297I probably damaging Het
Spata31e3 A C 13: 50,404,141 (GRCm39) S54A probably benign Het
Ttc7 A T 17: 87,628,829 (GRCm39) probably null Het
Vmn1r64 T A 7: 5,886,895 (GRCm39) H216L probably benign Het
Vmn2r112 A G 17: 22,837,393 (GRCm39) K618R probably damaging Het
Vmp1 T A 11: 86,552,014 (GRCm39) I117L probably benign Het
Vsnl1 A T 12: 11,382,056 (GRCm39) Y108* probably null Het
Wdr31 A G 4: 62,375,675 (GRCm39) probably null Het
Zfp329 A G 7: 12,541,840 (GRCm39) V284A probably benign Het
Zfp551 G A 7: 12,150,318 (GRCm39) H364Y possibly 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
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'- GACTCTCTTGCCTTGGTGG -3'
(R):5'- CGCACAAACCTCATCCTCTT -3'

Sequencing Primer
(F):5'- GCATGCTATGAGATGCTGGCTTAAAG -3'
(R):5'- ACAAACCTCATCCTCTTACCTTCTAG -3'
Posted On 2015-06-20