Incidental Mutation 'IGL02434:Prr30'
ID 293227
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prr30
Ensembl Gene ENSMUSG00000042888
Gene Name proline rich 30
Synonyms 1700110M21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL02434
Quality Score
Status
Chromosome 14
Chromosomal Location 101435126-101437766 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101435804 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9D9B7
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: 72,992,930 (GRCm39) G525V probably damaging Het
Agxt2 T C 15: 10,358,686 (GRCm39) S2P possibly damaging Het
Atg2b C T 12: 105,605,466 (GRCm39) V339I probably benign Het
Btc T A 5: 91,510,186 (GRCm39) I136F probably damaging Het
Cemip A T 7: 83,604,492 (GRCm39) M850K probably damaging Het
Cfap54 T A 10: 92,902,616 (GRCm39) T179S probably benign Het
Chd7 T C 4: 8,752,145 (GRCm39) L214P probably benign Het
Garnl3 T A 2: 32,944,217 (GRCm39) N114I probably damaging Het
Gm10010 G T 6: 128,177,433 (GRCm39) noncoding transcript Het
Gstcd A G 3: 132,701,963 (GRCm39) probably benign Het
Htr2b A G 1: 86,038,492 (GRCm39) V38A probably benign Het
Hyal4 G A 6: 24,763,857 (GRCm39) W339* probably null Het
Ifnb1 A G 4: 88,440,755 (GRCm39) V86A probably damaging Het
Itpr1 A G 6: 108,466,883 (GRCm39) probably null Het
Jag1 T C 2: 136,929,075 (GRCm39) S794G probably benign Het
Kdm5c T A X: 151,016,558 (GRCm39) M1K probably null Het
Lct A G 1: 128,231,527 (GRCm39) V774A probably damaging Het
Man2a2 G A 7: 80,009,388 (GRCm39) A822V probably damaging Het
Med14 A T X: 12,612,063 (GRCm39) D371E possibly damaging Het
Nrcam A G 12: 44,637,026 (GRCm39) probably benign Het
Or14j10 T A 17: 37,935,467 (GRCm39) N20Y possibly damaging Het
Or52e18 A T 7: 104,609,279 (GRCm39) M220K probably benign Het
Or52e18 A T 7: 104,609,281 (GRCm39) Y219* probably null Het
Pitpnm1 C T 19: 4,153,377 (GRCm39) R178W probably benign Het
Prb1b T A 6: 132,289,339 (GRCm39) R162W unknown Het
Prkcg A G 7: 3,367,406 (GRCm39) I324V probably benign Het
Ptgis A T 2: 167,082,262 (GRCm39) probably null Het
Rab11fip3 C T 17: 26,287,809 (GRCm39) A115T possibly damaging Het
Reps2 C T X: 161,309,253 (GRCm39) probably null Het
Rev3l A G 10: 39,698,587 (GRCm39) D1028G probably damaging Het
Rsbn1l T C 5: 21,124,732 (GRCm39) R357G probably damaging Het
Scn5a A G 9: 119,362,859 (GRCm39) L587P possibly damaging Het
Tanc2 C T 11: 105,670,868 (GRCm39) T155I probably benign Het
Tfb2m A G 1: 179,359,700 (GRCm39) probably benign Het
Tfpi A G 2: 84,282,892 (GRCm39) probably benign Het
Tg T C 15: 66,636,191 (GRCm39) S593P probably damaging Het
Unc13c T C 9: 73,839,910 (GRCm39) S314G probably benign Het
Other mutations in Prr30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02504:Prr30 APN 14 101,436,056 (GRCm39) missense probably benign 0.06
IGL02824:Prr30 APN 14 101,435,954 (GRCm39) missense probably benign 0.32
IGL02898:Prr30 APN 14 101,435,917 (GRCm39) missense probably benign
IGL03333:Prr30 APN 14 101,435,827 (GRCm39) missense possibly damaging 0.93
PIT4453001:Prr30 UTSW 14 101,436,371 (GRCm39) missense probably benign 0.23
R1004:Prr30 UTSW 14 101,436,529 (GRCm39) missense probably damaging 0.99
R1950:Prr30 UTSW 14 101,435,377 (GRCm39) missense probably benign 0.00
R2290:Prr30 UTSW 14 101,436,211 (GRCm39) missense possibly damaging 0.71
R3123:Prr30 UTSW 14 101,436,425 (GRCm39) missense probably benign
R4854:Prr30 UTSW 14 101,435,879 (GRCm39) missense probably benign
R6796:Prr30 UTSW 14 101,436,380 (GRCm39) missense probably benign 0.01
R7919:Prr30 UTSW 14 101,436,547 (GRCm39) missense possibly damaging 0.95
R8270:Prr30 UTSW 14 101,435,822 (GRCm39) missense possibly damaging 0.93
R8749:Prr30 UTSW 14 101,436,365 (GRCm39) missense probably benign 0.12
R9140:Prr30 UTSW 14 101,436,430 (GRCm39) missense probably benign 0.01
Z1088:Prr30 UTSW 14 101,435,576 (GRCm39) missense probably benign 0.02
Z1177:Prr30 UTSW 14 101,436,068 (GRCm39) missense probably damaging 0.97
Posted On 2015-04-16