Incidental Mutation 'R5248:Srpk3'
ID 398714
Institutional Source Beutler Lab
Gene Symbol Srpk3
Ensembl Gene ENSMUSG00000002007
Gene Name serine/arginine-rich protein specific kinase 3
Synonyms Mssk1, Stk23
MMRRC Submission 042819-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5248 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 72818011-72822531 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 72818555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 82 (R82*)
Ref Sequence ENSEMBL: ENSMUSP00000002081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002079] [ENSMUST00000002081] [ENSMUST00000052761]
AlphaFold Q9Z0G2
Predicted Effect probably benign
Transcript: ENSMUST00000002079
SMART Domains Protein: ENSMUSP00000002079
Gene: ENSMUSG00000031385

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
Sema 44 445 5.53e-102 SMART
PSI 463 515 8.91e-10 SMART
Blast:Sema 533 592 2e-9 BLAST
PSI 609 671 8.95e-1 SMART
PSI 776 822 5e-1 SMART
IPT 823 914 7.15e-15 SMART
IPT 915 1001 5.63e-13 SMART
IPT 1003 1134 7.17e-1 SMART
Pfam:TIG 1148 1232 7.7e-7 PFAM
low complexity region 1246 1265 N/A INTRINSIC
Pfam:Plexin_cytopl 1317 1869 2.7e-225 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000002081
AA Change: R82*
SMART Domains Protein: ENSMUSP00000002081
Gene: ENSMUSG00000002007
AA Change: R82*

DomainStartEndE-ValueType
low complexity region 6 31 N/A INTRINSIC
Pfam:Pkinase 78 228 1.4e-22 PFAM
Pfam:Pkinase_Tyr 78 230 1.1e-9 PFAM
coiled coil region 260 300 N/A INTRINSIC
low complexity region 325 338 N/A INTRINSIC
low complexity region 341 360 N/A INTRINSIC
Pfam:Pkinase 385 563 2.2e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000052761
SMART Domains Protein: ENSMUSP00000056502
Gene: ENSMUSG00000002010

DomainStartEndE-ValueType
low complexity region 1 17 N/A INTRINSIC
Iso_dh 56 379 1.1e-141 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129070
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136664
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137045
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149478
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148419
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156299
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146812
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147127
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139630
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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 kinase similar to a protein kinase which is specific for the SR (serine/arginine-rich domain) family of splicing factors. A highly similar protein has been shown to play a role in muscle development in mice. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
PHENOTYPE: Homozygous mice exhibit defects in skeletal muscle growth and myopathy of type 2 muscle fibers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,109,437 (GRCm39) E344D probably benign Het
Acoxl G A 2: 127,917,855 (GRCm39) probably null Het
Adora1 A T 1: 134,131,224 (GRCm39) L149Q possibly damaging Het
Aebp1 C A 11: 5,818,501 (GRCm39) D115E possibly damaging Het
Ank3 A G 10: 69,822,938 (GRCm39) I1819V probably benign Het
Ankrd44 T C 1: 54,706,539 (GRCm39) H454R probably damaging Het
Ap4e1 C T 2: 126,906,842 (GRCm39) A1034V possibly damaging Het
B3galt2 T A 1: 143,522,849 (GRCm39) F328L probably benign Het
Bbip1 G A 19: 53,919,786 (GRCm39) probably benign Het
Brsk1 G A 7: 4,711,865 (GRCm39) E572K possibly damaging Het
Clca3a1 G T 3: 144,442,897 (GRCm39) P716T possibly damaging Het
Clpx T C 9: 65,228,132 (GRCm39) V380A probably damaging Het
Epha3 T A 16: 63,418,620 (GRCm39) Q608H probably damaging Het
Gprc6a G T 10: 51,491,089 (GRCm39) P712T probably damaging Het
Itpr1 C A 6: 108,519,023 (GRCm39) Q2720K probably damaging Het
Kdm5b A G 1: 134,548,735 (GRCm39) E1080G probably benign Het
Macf1 G A 4: 123,295,567 (GRCm39) R3163* probably null Het
Map4k5 T C 12: 69,888,755 (GRCm39) D292G probably benign Het
Mau2 A T 8: 70,481,373 (GRCm39) C217S probably benign Het
Mtf1 T C 4: 124,714,220 (GRCm39) F210L probably damaging Het
Mtif2 G A 11: 29,486,889 (GRCm39) V300M probably damaging Het
Mtmr2 T C 9: 13,694,905 (GRCm39) probably benign Het
Mybpc3 C A 2: 90,955,573 (GRCm39) probably null Het
Ncmap T C 4: 135,107,430 (GRCm39) probably null Het
Nek9 A G 12: 85,355,751 (GRCm39) F672S probably damaging Het
Nuak1 A T 10: 84,245,542 (GRCm39) I101N probably damaging Het
Or8s16 T C 15: 98,211,311 (GRCm39) N40S probably damaging Het
Pcdh7 T A 5: 58,286,515 (GRCm39) M1197K probably damaging Het
Pcdhb17 A C 18: 37,618,939 (GRCm39) Q243P probably benign Het
Pcf11 T G 7: 92,310,699 (GRCm39) K221Q probably damaging Het
Pkhd1 C T 1: 20,604,769 (GRCm39) R1182H probably benign Het
Ptprz1 C A 6: 23,001,900 (GRCm39) P1330Q probably benign Het
Rbm33 T G 5: 28,542,050 (GRCm39) probably null Het
Rhobtb1 A G 10: 69,084,615 (GRCm39) D2G probably damaging Het
Rngtt T A 4: 33,325,110 (GRCm39) C110* probably null Het
Setx T A 2: 29,038,430 (GRCm39) N1638K probably benign Het
Slc24a3 A T 2: 145,446,437 (GRCm39) M282L probably benign Het
Slc7a1 A T 5: 148,270,798 (GRCm39) V556D possibly damaging Het
Sppl2c A T 11: 104,077,407 (GRCm39) D69V possibly damaging Het
Tas2r120 A T 6: 132,634,110 (GRCm39) N64I probably damaging Het
Tcf25 G T 8: 124,100,678 (GRCm39) A23S probably damaging Het
Tigd2 A T 6: 59,188,138 (GRCm39) K335I probably damaging Het
Tlr6 A G 5: 65,112,647 (GRCm39) S87P probably benign Het
Tmem135 T A 7: 88,797,200 (GRCm39) Y352F probably damaging Het
Tob2 T C 15: 81,735,918 (GRCm39) Y17C probably damaging Het
Tymp GC GCC 15: 89,258,567 (GRCm39) probably null Het
Vmn1r179 T C 7: 23,628,478 (GRCm39) V223A probably damaging Het
Zfp946 T C 17: 22,673,447 (GRCm39) V67A probably benign Het
Zswim4 G T 8: 84,946,561 (GRCm39) N698K probably benign Het
Zzz3 A G 3: 152,133,182 (GRCm39) Q80R probably damaging Het
Other mutations in Srpk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02211:Srpk3 APN X 72,818,754 (GRCm39) missense probably benign 0.33
Myo_bone UTSW X 72,818,555 (GRCm39) nonsense probably null
R1822:Srpk3 UTSW X 72,821,561 (GRCm39) missense possibly damaging 0.79
R1823:Srpk3 UTSW X 72,821,561 (GRCm39) missense possibly damaging 0.79
R4601:Srpk3 UTSW X 72,818,547 (GRCm39) missense possibly damaging 0.47
R4611:Srpk3 UTSW X 72,818,547 (GRCm39) missense possibly damaging 0.47
R5246:Srpk3 UTSW X 72,818,555 (GRCm39) nonsense probably null
R5247:Srpk3 UTSW X 72,818,555 (GRCm39) nonsense probably null
R5249:Srpk3 UTSW X 72,818,555 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ATTGCAAGGGTAAGGCCTGG -3'
(R):5'- CACTTTCAGGGCCACAAAGC -3'

Sequencing Primer
(F):5'- CAAGGGCTCAGGACAGCTTG -3'
(R):5'- AAAGCGCTTGCGCCTGTAATATG -3'
Posted On 2016-07-06