Incidental Mutation 'IGL01535:Prr36'
ID 89927
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prr36
Ensembl Gene ENSMUSG00000064125
Gene Name proline rich 36
Synonyms BC068157
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # IGL01535
Quality Score
Status
Chromosome 8
Chromosomal Location 4259543-4267459 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 4264043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168386] [ENSMUST00000175906] [ENSMUST00000176227] [ENSMUST00000177491]
AlphaFold E9PV26
Predicted Effect unknown
Transcript: ENSMUST00000168386
AA Change: L541Q
SMART Domains Protein: ENSMUSP00000133114
Gene: ENSMUSG00000064125
AA Change: L541Q

DomainStartEndE-ValueType
low complexity region 26 38 N/A INTRINSIC
internal_repeat_1 63 82 5.9e-10 PROSPERO
internal_repeat_1 87 106 5.9e-10 PROSPERO
low complexity region 109 123 N/A INTRINSIC
low complexity region 358 388 N/A INTRINSIC
low complexity region 390 425 N/A INTRINSIC
low complexity region 466 497 N/A INTRINSIC
low complexity region 543 567 N/A INTRINSIC
low complexity region 571 612 N/A INTRINSIC
low complexity region 647 726 N/A INTRINSIC
low complexity region 733 751 N/A INTRINSIC
low complexity region 755 780 N/A INTRINSIC
low complexity region 783 867 N/A INTRINSIC
low complexity region 1020 1045 N/A INTRINSIC
Pfam:DUF4596 1053 1098 4.1e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175906
SMART Domains Protein: ENSMUSP00000135713
Gene: ENSMUSG00000064125

DomainStartEndE-ValueType
low complexity region 26 38 N/A INTRINSIC
internal_repeat_1 63 82 5.38e-8 PROSPERO
internal_repeat_1 87 106 5.38e-8 PROSPERO
low complexity region 109 123 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176227
Predicted Effect probably benign
Transcript: ENSMUST00000176645
Predicted Effect probably benign
Transcript: ENSMUST00000177491
SMART Domains Protein: ENSMUSP00000135130
Gene: ENSMUSG00000064125

DomainStartEndE-ValueType
low complexity region 26 38 N/A INTRINSIC
internal_repeat_1 63 82 1.65e-6 PROSPERO
internal_repeat_1 87 106 1.65e-6 PROSPERO
low complexity region 109 123 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large protein of unknown function that contains internal regions of low complexity sequence. Alternative splicing results in multiple transcript variants. The transcript structure of the protein-coding variant at this locus is conserved between human and mouse. [provided by RefSeq, Oct 2013]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 59,101,891 (GRCm39) S654T probably benign Het
Brd10 T C 19: 29,731,212 (GRCm39) H600R possibly damaging Het
Cacnb3 A T 15: 98,537,469 (GRCm39) Q49L probably benign Het
Dapk1 A G 13: 60,878,845 (GRCm39) probably benign Het
Dop1b T A 16: 93,566,846 (GRCm39) L1091* probably null Het
Epb42 A G 2: 120,858,169 (GRCm39) V263A probably damaging Het
Fig4 T G 10: 41,132,490 (GRCm39) S439R probably benign Het
Gatc A T 5: 115,479,048 (GRCm39) V54E possibly damaging Het
Hook2 T C 8: 85,729,618 (GRCm39) L686P probably benign Het
Med12l A T 3: 59,169,680 (GRCm39) T1615S probably damaging Het
Msr1 C T 8: 40,064,714 (GRCm39) G320D probably benign Het
Nbeal1 T A 1: 60,256,414 (GRCm39) F220I probably damaging Het
Or14j2 T A 17: 37,885,679 (GRCm39) I212F possibly damaging Het
Or2l5 G A 16: 19,334,228 (GRCm39) H53Y probably benign Het
Pcdh10 A T 3: 45,334,078 (GRCm39) I131F probably damaging Het
Phlpp2 A G 8: 110,660,697 (GRCm39) E784G possibly damaging Het
Ptprq G A 10: 107,535,457 (GRCm39) S436L probably benign Het
Rock1 T A 18: 10,132,119 (GRCm39) probably benign Het
Sash1 T G 10: 8,617,341 (GRCm39) T522P probably damaging Het
Serpinb2 T C 1: 107,447,503 (GRCm39) probably null Het
Supt16 T C 14: 52,414,647 (GRCm39) K422E probably damaging Het
Syt14 T G 1: 192,669,073 (GRCm39) D60A probably damaging Het
Tbc1d2b A C 9: 90,097,526 (GRCm39) probably benign Het
Thsd7b T C 1: 129,605,954 (GRCm39) I565T possibly damaging Het
Ttn A G 2: 76,564,536 (GRCm39) Y28534H probably damaging Het
Vmn1r177 T A 7: 23,565,765 (GRCm39) H37L probably damaging Het
Vps13b A T 15: 35,455,103 (GRCm39) N671Y possibly damaging Het
Other mutations in Prr36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01410:Prr36 APN 8 4,266,230 (GRCm39) missense probably benign 0.01
IGL01658:Prr36 APN 8 4,265,243 (GRCm39) missense probably damaging 1.00
IGL01710:Prr36 APN 8 4,265,243 (GRCm39) missense probably damaging 1.00
IGL01712:Prr36 APN 8 4,265,243 (GRCm39) missense probably damaging 1.00
IGL01713:Prr36 APN 8 4,265,243 (GRCm39) missense probably damaging 1.00
IGL01892:Prr36 APN 8 4,265,243 (GRCm39) missense probably damaging 1.00
IGL01893:Prr36 APN 8 4,265,243 (GRCm39) missense probably damaging 1.00
IGL02496:Prr36 APN 8 4,266,407 (GRCm39) nonsense probably null
IGL02829:Prr36 APN 8 4,265,278 (GRCm39) missense possibly damaging 0.55
R0479:Prr36 UTSW 8 4,263,930 (GRCm39) nonsense probably null
R0667:Prr36 UTSW 8 4,266,311 (GRCm39) unclassified probably benign
R0784:Prr36 UTSW 8 4,263,771 (GRCm39) unclassified probably benign
R1737:Prr36 UTSW 8 4,264,370 (GRCm39) unclassified probably benign
R2017:Prr36 UTSW 8 4,265,205 (GRCm39) missense probably benign 0.02
R2032:Prr36 UTSW 8 4,264,304 (GRCm39) unclassified probably benign
R2430:Prr36 UTSW 8 4,263,488 (GRCm39) unclassified probably benign
R4160:Prr36 UTSW 8 4,262,910 (GRCm39) missense probably benign 0.10
R4184:Prr36 UTSW 8 4,263,409 (GRCm39) unclassified probably benign
R4393:Prr36 UTSW 8 4,264,901 (GRCm39) unclassified probably benign
R4887:Prr36 UTSW 8 4,260,881 (GRCm39) missense probably benign 0.01
R5508:Prr36 UTSW 8 4,266,488 (GRCm39) missense probably damaging 0.99
R5628:Prr36 UTSW 8 4,266,273 (GRCm39) small deletion probably benign
R6189:Prr36 UTSW 8 4,264,177 (GRCm39) unclassified probably benign
R6277:Prr36 UTSW 8 4,264,746 (GRCm39) unclassified probably benign
R7185:Prr36 UTSW 8 4,266,458 (GRCm39) missense probably damaging 1.00
R7286:Prr36 UTSW 8 4,265,163 (GRCm39) critical splice donor site probably benign
R7338:Prr36 UTSW 8 4,266,212 (GRCm39) missense probably damaging 1.00
R7604:Prr36 UTSW 8 4,264,836 (GRCm39) missense unknown
R7621:Prr36 UTSW 8 4,263,150 (GRCm39) missense unknown
R7699:Prr36 UTSW 8 4,263,989 (GRCm39) missense unknown
R7703:Prr36 UTSW 8 4,262,982 (GRCm39) missense probably benign 0.03
R7842:Prr36 UTSW 8 4,260,953 (GRCm39) missense probably benign 0.09
R7853:Prr36 UTSW 8 4,263,905 (GRCm39) missense unknown
R8325:Prr36 UTSW 8 4,262,982 (GRCm39) missense probably benign 0.03
R8340:Prr36 UTSW 8 4,264,224 (GRCm39) missense unknown
R8353:Prr36 UTSW 8 4,263,831 (GRCm39) unclassified probably benign
R8777-TAIL:Prr36 UTSW 8 4,266,273 (GRCm39) small deletion probably benign
R9498:Prr36 UTSW 8 4,263,291 (GRCm39) missense unknown
R9502:Prr36 UTSW 8 4,264,775 (GRCm39) missense unknown
R9757:Prr36 UTSW 8 4,260,998 (GRCm39) missense probably damaging 1.00
RF044:Prr36 UTSW 8 4,266,273 (GRCm39) small deletion probably benign
Posted On 2013-12-03