Incidental Mutation 'IGL02824:Prr30'
ID 361131
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: 0.054) question?
Stock # IGL02824
Quality Score
Status
Chromosome 14
Chromosomal Location 101435126-101437766 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101435954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 203 (F203L)
Ref Sequence ENSEMBL: ENSMUSP00000139590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057718] [ENSMUST00000187304]
AlphaFold Q9D9B7
Predicted Effect probably benign
Transcript: ENSMUST00000057718
AA Change: F203L

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000060206
Gene: ENSMUSG00000042888
AA Change: F203L

DomainStartEndE-ValueType
Pfam:DUF4679 1 400 8.4e-186 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000187304
AA Change: F203L

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139590
Gene: ENSMUSG00000042888
AA Change: F203L

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
9530002B09Rik T C 4: 122,596,112 (GRCm39) probably benign Het
Aadat A T 8: 60,969,056 (GRCm39) K93N probably benign Het
Abcb5 A G 12: 118,854,420 (GRCm39) F832L probably benign Het
Abl1 A T 2: 31,690,831 (GRCm39) K783N probably damaging Het
Agxt2 A G 15: 10,393,891 (GRCm39) E423G probably null Het
Alkbh8 T C 9: 3,368,021 (GRCm39) probably null Het
Ankrd36 T C 11: 5,524,246 (GRCm39) I171T possibly damaging Het
Ap1b1 G T 11: 4,983,738 (GRCm39) A664S possibly damaging Het
Cd19 T C 7: 126,009,826 (GRCm39) D446G probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Cyp4f39 T C 17: 32,687,659 (GRCm39) probably null Het
Ehbp1l1 T C 19: 5,769,326 (GRCm39) D659G probably benign Het
Eif3l A G 15: 78,960,023 (GRCm39) probably null Het
F5 T C 1: 164,021,916 (GRCm39) S1464P probably benign Het
Fut9 T C 4: 25,620,037 (GRCm39) N259S probably damaging Het
Glb1l3 A T 9: 26,761,405 (GRCm39) I209N probably damaging Het
Gpd2 A G 2: 57,254,339 (GRCm39) E671G probably null Het
Heatr5b T C 17: 79,081,109 (GRCm39) D1381G probably damaging Het
Ifi206 A T 1: 173,309,438 (GRCm39) I186K possibly damaging Het
Izumo1 A G 7: 45,275,072 (GRCm39) D236G probably benign Het
Klhl32 T A 4: 24,682,237 (GRCm39) R149* probably null Het
Lrrn1 T C 6: 107,545,495 (GRCm39) F431S possibly damaging Het
Man2b2 C T 5: 36,979,195 (GRCm39) V282I probably benign Het
Mboat2 A G 12: 24,996,585 (GRCm39) K164R probably benign Het
Mgarp T C 3: 51,296,508 (GRCm39) T165A probably damaging Het
Midn T G 10: 79,989,486 (GRCm39) I43S possibly damaging Het
Ndn A G 7: 61,998,582 (GRCm39) I143V possibly damaging Het
Or6c69 T C 10: 129,747,565 (GRCm39) E194G probably damaging Het
Or8h9 T C 2: 86,789,337 (GRCm39) D155G probably benign Het
Pcnx4 T C 12: 72,602,345 (GRCm39) V278A probably benign Het
Scd4 T C 19: 44,329,698 (GRCm39) L223P probably damaging Het
Setdb1 T C 3: 95,247,215 (GRCm39) probably benign Het
Smtn A G 11: 3,482,658 (GRCm39) Y105H probably damaging Het
Spata19 A G 9: 27,309,025 (GRCm39) I54M possibly damaging Het
Syk A T 13: 52,777,319 (GRCm39) probably benign Het
Trim44 A G 2: 102,230,540 (GRCm39) F164L possibly damaging Het
Zfp503 C T 14: 22,035,162 (GRCm39) G585S possibly damaging Het
Other mutations in Prr30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02434:Prr30 APN 14 101,435,804 (GRCm39) missense possibly damaging 0.71
IGL02504:Prr30 APN 14 101,436,056 (GRCm39) missense probably benign 0.06
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 2015-12-18