Incidental Mutation 'IGL02833:Prr16'
ID 361537
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prr16
Ensembl Gene ENSMUSG00000073565
Gene Name proline rich 16
Synonyms 5430406M13Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # IGL02833
Quality Score
Status
Chromosome 18
Chromosomal Location 51250970-51437713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 51436164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 214 (H214Q)
Ref Sequence ENSEMBL: ENSMUSP00000112338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000116639]
AlphaFold A3KMN5
Predicted Effect probably damaging
Transcript: ENSMUST00000116639
AA Change: H214Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112338
Gene: ENSMUSG00000073565
AA Change: H214Q

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
Pfam:DUF4589 53 304 4.4e-80 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ache A G 5: 137,289,371 (GRCm39) probably benign Het
Atr A T 9: 95,744,905 (GRCm39) H74L probably damaging Het
Brca2 A T 5: 150,465,255 (GRCm39) H1673L possibly damaging Het
Brwd1 A T 16: 95,853,771 (GRCm39) I495K probably damaging Het
Cacna1s A T 1: 135,998,743 (GRCm39) I213F probably benign Het
Cds1 T C 5: 101,962,332 (GRCm39) S316P possibly damaging Het
Ces1b G A 8: 93,806,038 (GRCm39) P68S probably damaging Het
Cilp A G 9: 65,185,206 (GRCm39) I434V probably benign Het
Csgalnact2 A G 6: 118,106,229 (GRCm39) Y30H probably damaging Het
Defb7 T C 8: 19,545,140 (GRCm39) V6A probably benign Het
Dlg2 A T 7: 92,080,335 (GRCm39) L841F probably damaging Het
Dnajc14 A G 10: 128,642,468 (GRCm39) N130S possibly damaging Het
Dock7 T A 4: 98,833,732 (GRCm39) D1863V probably damaging Het
Dsp A G 13: 38,376,897 (GRCm39) R1561G possibly damaging Het
Fads2b G T 2: 85,332,551 (GRCm39) R158S possibly damaging Het
Gstt4 G T 10: 75,658,174 (GRCm39) F28L probably damaging Het
Hectd1 G T 12: 51,810,864 (GRCm39) D1690E probably damaging Het
Hspg2 T C 4: 137,282,441 (GRCm39) S3394P probably benign Het
Ift25 T C 4: 107,132,492 (GRCm39) probably benign Het
Igf2r A T 17: 12,911,610 (GRCm39) C1910S probably damaging Het
Jakmip2 T C 18: 43,708,516 (GRCm39) probably benign Het
Katnip A T 7: 125,449,584 (GRCm39) R883* probably null Het
Kif1b C T 4: 149,330,821 (GRCm39) V612M probably damaging Het
Lrrd1 A G 5: 3,900,709 (GRCm39) E338G probably damaging Het
Mmp9 C A 2: 164,791,723 (GRCm39) D205E probably damaging Het
Mylk A T 16: 34,735,270 (GRCm39) H750L probably benign Het
Naip6 A G 13: 100,436,121 (GRCm39) S801P probably damaging Het
Nlrp1b A T 11: 71,051,998 (GRCm39) M980K probably benign Het
Or14j1 G A 17: 38,146,831 (GRCm39) V314I probably benign Het
Or2y3 T C 17: 38,393,243 (GRCm39) K209E possibly damaging Het
Or5d43 C A 2: 88,104,776 (GRCm39) V206F probably benign Het
Or6c88 A G 10: 129,406,619 (GRCm39) T32A probably benign Het
Pdk1 A G 2: 71,727,989 (GRCm39) probably null Het
Pex7 A G 10: 19,770,500 (GRCm39) S125P probably damaging Het
Pigu T C 2: 155,187,565 (GRCm39) probably benign Het
Psme4 C T 11: 30,800,715 (GRCm39) probably benign Het
Sf3b3 A G 8: 111,538,609 (GRCm39) probably null Het
Sp4 T C 12: 118,225,616 (GRCm39) I583V probably benign Het
Spata22 A G 11: 73,234,569 (GRCm39) T224A probably benign Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tmem119 T A 5: 113,933,432 (GRCm39) Y123F probably damaging Het
Umps A T 16: 33,782,523 (GRCm39) L133* probably null Het
Usp46 T A 5: 74,177,343 (GRCm39) T179S probably benign Het
Vtcn1 T A 3: 100,795,701 (GRCm39) Y223N probably damaging Het
Wiz A G 17: 32,576,853 (GRCm39) M567T probably damaging Het
Other mutations in Prr16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00225:Prr16 APN 18 51,436,192 (GRCm39) missense possibly damaging 0.82
IGL00951:Prr16 APN 18 51,436,411 (GRCm39) missense probably damaging 1.00
IGL01744:Prr16 APN 18 51,436,061 (GRCm39) missense possibly damaging 0.73
IGL02345:Prr16 APN 18 51,436,301 (GRCm39) missense probably damaging 1.00
LCD18:Prr16 UTSW 18 51,333,396 (GRCm39) intron probably benign
R1195:Prr16 UTSW 18 51,435,755 (GRCm39) missense probably damaging 1.00
R1195:Prr16 UTSW 18 51,435,755 (GRCm39) missense probably damaging 1.00
R1195:Prr16 UTSW 18 51,435,755 (GRCm39) missense probably damaging 1.00
R1572:Prr16 UTSW 18 51,436,042 (GRCm39) missense probably benign 0.01
R1988:Prr16 UTSW 18 51,436,349 (GRCm39) missense probably damaging 1.00
R3436:Prr16 UTSW 18 51,436,195 (GRCm39) missense probably benign 0.00
R3685:Prr16 UTSW 18 51,435,892 (GRCm39) missense probably damaging 0.99
R4609:Prr16 UTSW 18 51,251,139 (GRCm39) missense possibly damaging 0.79
R4626:Prr16 UTSW 18 51,435,911 (GRCm39) missense probably damaging 1.00
R5443:Prr16 UTSW 18 51,436,225 (GRCm39) missense probably damaging 1.00
R5713:Prr16 UTSW 18 51,435,910 (GRCm39) missense probably damaging 1.00
R6525:Prr16 UTSW 18 51,436,227 (GRCm39) missense probably benign 0.01
R9619:Prr16 UTSW 18 51,435,797 (GRCm39) missense possibly damaging 0.53
Z1176:Prr16 UTSW 18 51,436,222 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18