Incidental Mutation 'IGL03333:Prr30'
ID 416937
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 # IGL03333
Quality Score
Status
Chromosome 14
Chromosomal Location 101435126-101437766 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101435827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 245 (V245E)
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: V245E

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000060206
Gene: ENSMUSG00000042888
AA Change: V245E

DomainStartEndE-ValueType
Pfam:DUF4679 1 400 8.4e-186 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000187304
AA Change: V245E

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139590
Gene: ENSMUSG00000042888
AA Change: V245E

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
Arhgap39 T C 15: 76,610,932 (GRCm39) M893V probably benign Het
Ccdc185 C A 1: 182,576,398 (GRCm39) G97V probably damaging Het
Cep170 T C 1: 176,597,092 (GRCm39) T422A possibly damaging Het
Ckap2l A C 2: 129,138,228 (GRCm39) probably null Het
Cpa3 A G 3: 20,269,992 (GRCm39) Y411H possibly damaging Het
Dnah2 C A 11: 69,385,949 (GRCm39) R1011L probably damaging Het
Efnb2 T A 8: 8,689,275 (GRCm39) K30* probably null Het
Ep400 C T 5: 110,851,432 (GRCm39) R1350H unknown Het
Epha6 T C 16: 59,503,051 (GRCm39) D952G probably damaging Het
Exoc7 C A 11: 116,191,987 (GRCm39) V195L probably benign Het
Fbxw8 T C 5: 118,233,660 (GRCm39) M324V possibly damaging Het
Fchsd2 T C 7: 100,847,703 (GRCm39) S198P probably damaging Het
Gcdh T C 8: 85,617,700 (GRCm39) T202A probably benign Het
Gm6619 G A 6: 131,467,471 (GRCm39) probably benign Het
Itpr1 A T 6: 108,357,871 (GRCm39) probably benign Het
Kif2c A C 4: 117,037,833 (GRCm39) V31G possibly damaging Het
Kpna7 T C 5: 144,942,765 (GRCm39) I74V possibly damaging Het
Lvrn G A 18: 46,997,731 (GRCm39) probably benign Het
Man2b2 T A 5: 36,973,483 (GRCm39) I499F probably damaging Het
Mmd2 G T 5: 142,553,693 (GRCm39) probably benign Het
Or11h7 C T 14: 50,890,855 (GRCm39) Q54* probably null Het
Or2r11 T C 6: 42,437,773 (GRCm39) Y60C probably damaging Het
Or6b1 T A 6: 42,815,637 (GRCm39) I274N possibly damaging Het
Or8g2b T A 9: 39,751,308 (GRCm39) Y193N probably damaging Het
Parp14 A G 16: 35,661,800 (GRCm39) S1412P probably benign Het
Ros1 T A 10: 52,031,267 (GRCm39) D458V probably damaging Het
Sec22c A G 9: 121,517,284 (GRCm39) L138P probably damaging Het
Sema6d C A 2: 124,506,290 (GRCm39) H699Q possibly damaging Het
Spata17 A T 1: 186,872,667 (GRCm39) M1K probably null Het
Tpr T A 1: 150,302,718 (GRCm39) D1331E probably benign Het
Ttc4 A G 4: 106,533,828 (GRCm39) Y120H probably benign Het
Tubgcp4 A G 2: 121,026,654 (GRCm39) probably null Het
Usp19 T A 9: 108,371,348 (GRCm39) M285K probably benign Het
Vmn1r222 A T 13: 23,417,177 (GRCm39) F12Y probably benign Het
Vmn2r72 T C 7: 85,400,075 (GRCm39) K325E probably benign Het
Vps33b T C 7: 79,923,973 (GRCm39) probably benign Het
Zfp784 C T 7: 5,039,351 (GRCm39) probably benign 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
IGL02824:Prr30 APN 14 101,435,954 (GRCm39) missense probably benign 0.32
IGL02898:Prr30 APN 14 101,435,917 (GRCm39) missense probably benign
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 2016-08-02