Incidental Mutation 'IGL02527:Prrc1'
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ID297145
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prrc1
Ensembl Gene ENSMUSG00000024594
Gene Nameproline-rich coiled-coil 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.085) question?
Stock #IGL02527
Quality Score
Status
Chromosome18
Chromosomal Location57354733-57392719 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 57389347 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 417 (M417K)
Ref Sequence ENSEMBL: ENSMUSP00000025490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025490]
Predicted Effect probably benign
Transcript: ENSMUST00000025490
AA Change: M417K

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000025490
Gene: ENSMUSG00000024594
AA Change: M417K

DomainStartEndE-ValueType
low complexity region 57 71 N/A INTRINSIC
low complexity region 79 96 N/A INTRINSIC
low complexity region 109 134 N/A INTRINSIC
Pfam:NTPase_I-T 261 380 4.3e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130696
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,661,433 V868A probably damaging Het
Adam25 T A 8: 40,753,748 I17K possibly damaging Het
Arap2 A T 5: 62,749,307 M123K probably benign Het
Asic3 A G 5: 24,416,277 M332V probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
BC017158 T A 7: 128,276,231 T317S possibly damaging Het
Cand1 A T 10: 119,206,807 M1126K probably damaging Het
Capn3 A G 2: 120,504,485 T818A probably damaging Het
Cda G A 4: 138,343,521 Q104* probably null Het
Cpeb1 T C 7: 81,359,887 D234G probably damaging Het
Cpq A G 15: 33,302,363 Y220C probably damaging Het
Diaph3 T C 14: 86,810,359 K1026R possibly damaging Het
Dpep1 T C 8: 123,198,748 F47L probably damaging Het
Dppa4 G T 16: 48,289,093 R66L possibly damaging Het
Elac1 C A 18: 73,747,233 E31* probably null Het
Fggy A G 4: 95,697,069 K62E probably damaging Het
Ficd T A 5: 113,736,966 M32K probably benign Het
Foxd4 A G 19: 24,899,814 S341P probably benign Het
Gm4788 T C 1: 139,753,045 N245S probably damaging Het
Gnb4 G T 3: 32,589,866 T181K probably benign Het
Grin2b T A 6: 135,923,391 Y164F probably damaging Het
Hmmr A G 11: 40,708,105 L564P probably damaging Het
Hsd17b4 G A 18: 50,160,164 V257I probably benign Het
Itga10 C A 3: 96,655,624 probably benign Het
Kcnk18 T C 19: 59,235,275 V284A probably damaging Het
Klf11 T A 12: 24,655,323 S259T probably benign Het
Kmt2d C T 15: 98,841,747 probably benign Het
Manea A G 4: 26,336,619 probably null Het
Mybl1 T C 1: 9,690,148 H75R probably damaging Het
Neb G A 2: 52,263,947 T2384M probably damaging Het
Neb A G 2: 52,149,213 I6938T probably benign Het
Ntrk3 T C 7: 78,451,949 D412G probably benign Het
Olah T C 2: 3,342,942 E211G probably damaging Het
Olfr1123 T C 2: 87,418,837 L261S probably damaging Het
Paxbp1 A T 16: 91,037,273 N208K possibly damaging Het
Ptprq G A 10: 107,686,563 T543M probably benign Het
Rasal1 T C 5: 120,666,404 V447A probably damaging Het
Rbl1 T C 2: 157,194,048 E287G probably benign Het
Tec A G 5: 72,779,415 probably null Het
Tex26 A G 5: 149,456,942 D61G probably damaging Het
Tgfb1i1 G A 7: 128,252,562 probably benign Het
Tmem132c T C 5: 127,359,611 Y55H possibly damaging Het
Tmem63a T A 1: 180,952,974 probably null Het
Umod C T 7: 119,469,467 G452D probably damaging Het
Vcan G A 13: 89,690,657 T2256I possibly damaging Het
Vmn1r31 A T 6: 58,472,793 I29K probably benign Het
Vmn2r117 A G 17: 23,477,225 Y403H possibly damaging Het
Vmn2r124 A T 17: 18,066,502 probably null Het
Vmn2r65 T A 7: 84,946,516 K320M possibly damaging Het
Other mutations in Prrc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03207:Prrc1 APN 18 57389317 missense probably benign 0.19
R0226:Prrc1 UTSW 18 57363291 missense probably benign
R0375:Prrc1 UTSW 18 57362492 missense probably damaging 1.00
R0470:Prrc1 UTSW 18 57363397 missense probably damaging 1.00
R0540:Prrc1 UTSW 18 57374550 missense possibly damaging 0.50
R0607:Prrc1 UTSW 18 57374550 missense possibly damaging 0.50
R1929:Prrc1 UTSW 18 57381646 missense probably damaging 0.98
R2266:Prrc1 UTSW 18 57381646 missense probably damaging 0.98
R2268:Prrc1 UTSW 18 57381646 missense probably damaging 0.98
R2269:Prrc1 UTSW 18 57381646 missense probably damaging 0.98
R2272:Prrc1 UTSW 18 57381646 missense probably damaging 0.98
R4758:Prrc1 UTSW 18 57384248 missense probably damaging 1.00
R4896:Prrc1 UTSW 18 57374554 missense probably damaging 1.00
R4965:Prrc1 UTSW 18 57374550 missense possibly damaging 0.50
R6395:Prrc1 UTSW 18 57362547 missense probably null
R6534:Prrc1 UTSW 18 57389274 missense probably damaging 0.99
R7514:Prrc1 UTSW 18 57363253 missense probably benign 0.43
Posted On2015-04-16