Incidental Mutation 'IGL02434:Prr30'
ID293227
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prr30
Ensembl Gene ENSMUSG00000042888
Gene Nameproline rich 30
Synonyms1700110M21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL02434
Quality Score
Status
Chromosome14
Chromosomal Location101197690-101200330 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 101198368 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 253 (C253S)
Ref Sequence ENSEMBL: ENSMUSP00000139590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057718] [ENSMUST00000187304]
Predicted Effect possibly damaging
Transcript: ENSMUST00000057718
AA Change: C253S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000060206
Gene: ENSMUSG00000042888
AA Change: C253S

DomainStartEndE-ValueType
Pfam:DUF4679 1 400 8.4e-186 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000187304
AA Change: C253S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139590
Gene: ENSMUSG00000042888
AA Change: C253S

DomainStartEndE-ValueType
low complexity region 83 94 N/A INTRINSIC
low complexity region 123 147 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 C A 15: 73,121,081 G525V probably damaging Het
Agxt2 T C 15: 10,358,600 S2P possibly damaging Het
Atg2b C T 12: 105,639,207 V339I probably benign Het
Btc T A 5: 91,362,327 I136F probably damaging Het
Cemip A T 7: 83,955,284 M850K probably damaging Het
Cfap54 T A 10: 93,066,754 T179S probably benign Het
Chd7 T C 4: 8,752,145 L214P probably benign Het
Garnl3 T A 2: 33,054,205 N114I probably damaging Het
Gm10010 G T 6: 128,200,470 noncoding transcript Het
Gstcd A G 3: 132,996,202 probably benign Het
Htr2b A G 1: 86,110,770 V38A probably benign Het
Hyal4 G A 6: 24,763,858 W339* probably null Het
Ifnb1 A G 4: 88,522,518 V86A probably damaging Het
Itpr1 A G 6: 108,489,922 probably null Het
Jag1 T C 2: 137,087,155 S794G probably benign Het
Kdm5c T A X: 152,233,562 M1K probably null Het
Lct A G 1: 128,303,790 V774A probably damaging Het
Man2a2 G A 7: 80,359,640 A822V probably damaging Het
Med14 A T X: 12,745,824 D371E possibly damaging Het
Nrcam A G 12: 44,590,243 probably benign Het
Olfr116 T A 17: 37,624,576 N20Y possibly damaging Het
Olfr670 A T 7: 104,960,072 M220K probably benign Het
Olfr670 A T 7: 104,960,074 Y219* probably null Het
Pitpnm1 C T 19: 4,103,377 R178W probably benign Het
Prkcg A G 7: 3,318,890 I324V probably benign Het
Prpmp5 T A 6: 132,312,376 R162W unknown Het
Ptgis A T 2: 167,240,342 probably null Het
Rab11fip3 C T 17: 26,068,835 A115T possibly damaging Het
Reps2 C T X: 162,526,257 probably null Het
Rev3l A G 10: 39,822,591 D1028G probably damaging Het
Rsbn1l T C 5: 20,919,734 R357G probably damaging Het
Scn5a A G 9: 119,533,793 L587P possibly damaging Het
Tanc2 C T 11: 105,780,042 T155I probably benign Het
Tfb2m A G 1: 179,532,135 probably benign Het
Tfpi A G 2: 84,452,548 probably benign Het
Tg T C 15: 66,764,342 S593P probably damaging Het
Unc13c T C 9: 73,932,628 S314G probably benign Het
Other mutations in Prr30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02504:Prr30 APN 14 101198620 missense probably benign 0.06
IGL02824:Prr30 APN 14 101198518 missense probably benign 0.32
IGL02898:Prr30 APN 14 101198481 missense probably benign
IGL03333:Prr30 APN 14 101198391 missense possibly damaging 0.93
PIT4453001:Prr30 UTSW 14 101198935 missense probably benign 0.23
R1004:Prr30 UTSW 14 101199093 missense probably damaging 0.99
R1950:Prr30 UTSW 14 101197941 missense probably benign 0.00
R2290:Prr30 UTSW 14 101198775 missense possibly damaging 0.71
R3123:Prr30 UTSW 14 101198989 missense probably benign
R4854:Prr30 UTSW 14 101198443 missense probably benign
R6796:Prr30 UTSW 14 101198944 missense probably benign 0.01
Z1088:Prr30 UTSW 14 101198140 missense probably benign 0.02
Z1177:Prr30 UTSW 14 101198632 missense probably damaging 0.97
Posted On2015-04-16