Incidental Mutation 'IGL02557:Sprr3'
ID298322
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sprr3
Ensembl Gene ENSMUSG00000045539
Gene Namesmall proline-rich protein 3
SynonymsSPR3
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.469) question?
Stock #IGL02557
Quality Score
Status
Chromosome3
Chromosomal Location92456502-92458720 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 92457166 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 124 (T124A)
Ref Sequence ENSEMBL: ENSMUSP00000056287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058142]
Predicted Effect possibly damaging
Transcript: ENSMUST00000058142
AA Change: T124A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000056287
Gene: ENSMUSG00000045539
AA Change: T124A

DomainStartEndE-ValueType
Pfam:Cornifin 17 142 1.3e-35 PFAM
Pfam:Cornifin 125 236 3.9e-26 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C T 1: 130,742,707 P222L probably benign Het
AI464131 C T 4: 41,497,900 V577M possibly damaging Het
Alg12 T A 15: 88,816,207 K9* probably null Het
Arhgap20 T C 9: 51,821,273 V119A probably damaging Het
Arhgap45 T C 10: 80,021,638 Y178H probably damaging Het
Atad2 A T 15: 58,122,597 S243T probably benign Het
Atp13a5 A C 16: 29,248,182 F1013V probably benign Het
Atp1a2 T G 1: 172,278,651 T865P possibly damaging Het
Bcas2 T C 3: 103,171,867 probably benign Het
Ccnk T C 12: 108,195,726 S297P unknown Het
Cdk5 A T 5: 24,419,653 S215T probably benign Het
Ciita T A 16: 10,512,015 L798Q probably damaging Het
Clcn2 A G 16: 20,708,464 S584P probably damaging Het
Cntn6 A G 6: 104,774,535 Y384C probably damaging Het
Cyp2b10 T A 7: 25,914,881 V260D probably benign Het
Dsel A T 1: 111,862,570 H78Q probably damaging Het
Eml3 T C 19: 8,931,381 probably benign Het
Fcgr2b C A 1: 170,963,322 probably null Het
Fryl A T 5: 73,098,393 L765Q probably damaging Het
Gas2 T A 7: 51,887,933 M2K probably damaging Het
Gm13941 T C 2: 111,101,156 K44E unknown Het
Gm42878 A G 5: 121,527,131 S205P possibly damaging Het
Hcn3 A T 3: 89,149,871 S473R probably damaging Het
Hnrnpr A G 4: 136,319,506 E65G probably damaging Het
Ints1 A T 5: 139,771,637 V375E probably damaging Het
Lama5 A T 2: 180,190,932 C1642* probably null Het
Lsr T G 7: 30,958,494 E347A possibly damaging Het
Mapre2 C A 18: 23,832,957 T33K probably damaging Het
Myo3b T A 2: 70,255,319 F772I probably benign Het
Nbas T C 12: 13,361,028 V891A probably damaging Het
Neurl4 A T 11: 69,906,335 I583F probably damaging Het
Nsd1 T C 13: 55,312,448 S2163P probably damaging Het
Nup210l T C 3: 90,124,230 Y288H probably damaging Het
Olfr1212 A G 2: 88,958,681 I72V probably benign Het
Olfr1329 T C 4: 118,917,192 T92A probably benign Het
Pak1 A G 7: 97,871,587 E151G probably benign Het
Phtf1 A G 3: 103,998,765 N588D probably damaging Het
Prom2 T C 2: 127,529,471 T756A possibly damaging Het
Ptgfrn C T 3: 101,060,636 probably null Het
Seh1l T C 18: 67,789,413 S279P probably benign Het
Sema3f A T 9: 107,687,212 M35K probably damaging Het
Spesp1 T C 9: 62,273,134 E164G possibly damaging Het
Trim24 A C 6: 37,965,499 probably null Het
Unc79 A G 12: 103,182,159 probably benign Het
Vmn2r77 T A 7: 86,795,134 probably benign Het
Other mutations in Sprr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0070:Sprr3 UTSW 3 92457302 missense probably benign
R0512:Sprr3 UTSW 3 92457477 missense possibly damaging 0.71
R0907:Sprr3 UTSW 3 92457009 missense probably benign 0.09
R1976:Sprr3 UTSW 3 92456946 missense possibly damaging 0.52
R4241:Sprr3 UTSW 3 92456907 missense possibly damaging 0.92
R4503:Sprr3 UTSW 3 92457376 missense possibly damaging 0.51
Posted On2015-04-16