Incidental Mutation 'IGL01710:Prr36'
ID 278782
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 # IGL01710
Quality Score
Status
Chromosome 8
Chromosomal Location 4259543-4267459 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 4265243 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 169 (P169L)
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: P169L
SMART Domains Protein: ENSMUSP00000133114
Gene: ENSMUSG00000064125
AA Change: P169L

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 damaging
Transcript: ENSMUST00000177491
AA Change: P169L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000135130
Gene: ENSMUSG00000064125
AA Change: P169L

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 G A 18: 62,004,645 (GRCm39) T48I probably damaging Het
Ccpg1 T C 9: 72,904,723 (GRCm39) probably benign Het
Chkb G A 15: 89,310,843 (GRCm39) Q379* probably null Het
Chst15 T A 7: 131,872,236 (GRCm39) D15V probably benign Het
Cntn4 G A 6: 106,527,392 (GRCm39) V425I possibly damaging Het
Cpa6 T A 1: 10,395,497 (GRCm39) N390I probably damaging Het
Efhd2 A G 4: 141,587,872 (GRCm39) F193S probably damaging Het
Ell3 T C 2: 121,271,993 (GRCm39) H128R probably damaging Het
Ercc5 T G 1: 44,203,235 (GRCm39) L291V probably damaging Het
Eva1c A G 16: 90,701,235 (GRCm39) Y302C probably damaging Het
Fmo3 A C 1: 162,810,612 (GRCm39) L26R probably damaging Het
Galntl6 T A 8: 58,989,002 (GRCm39) D17V probably damaging Het
Gm6483 C T 8: 19,741,629 (GRCm39) P55S probably damaging Het
Gstt2 A G 10: 75,669,579 (GRCm39) probably benign Het
Hmcn2 T A 2: 31,233,114 (GRCm39) L221Q probably damaging Het
Hoxa3 T C 6: 52,147,554 (GRCm39) probably benign Het
Kctd12b T C X: 152,472,479 (GRCm39) D70G probably damaging Het
Kdm7a T A 6: 39,152,320 (GRCm39) E125D probably benign Het
Klk1b21 T A 7: 43,755,919 (GRCm39) F249L probably benign Het
Mrpl41 T C 2: 24,864,429 (GRCm39) D81G possibly damaging Het
Nomo1 T A 7: 45,687,980 (GRCm39) L82Q probably damaging Het
Or5p58 G T 7: 107,694,449 (GRCm39) F109L probably benign Het
Papolg A T 11: 23,814,026 (GRCm39) S718T probably damaging Het
Pex6 A G 17: 47,036,252 (GRCm39) probably benign Het
Pi4k2a T A 19: 42,093,418 (GRCm39) L253Q probably damaging Het
Prdx6b T A 2: 80,123,490 (GRCm39) F100I probably damaging Het
Ptgfrn T C 3: 100,980,404 (GRCm39) E312G probably damaging Het
Rasgrf1 A G 9: 89,873,745 (GRCm39) I685V probably benign Het
Setdb1 T C 3: 95,246,164 (GRCm39) E586G probably damaging Het
Sez6l2 C A 7: 126,567,388 (GRCm39) T841K probably damaging Het
Slc25a17 A T 15: 81,211,527 (GRCm39) L163* probably null Het
Slc35f3 A T 8: 127,115,900 (GRCm39) I276F probably benign Het
Tcerg1l T A 7: 137,996,789 (GRCm39) K149N possibly damaging Het
Tex28 T A X: 73,195,939 (GRCm39) K278* probably null Het
Tmprss9 A G 10: 80,733,793 (GRCm39) probably benign Het
Tnfaip8l1 A G 17: 56,478,782 (GRCm39) K24R probably benign Het
Trim36 T C 18: 46,321,455 (GRCm39) probably benign Het
Uba1 C T X: 20,537,604 (GRCm39) T274I possibly damaging Het
Ubr2 T C 17: 47,254,335 (GRCm39) T1439A probably benign Het
Ubr4 A G 4: 139,145,772 (GRCm39) D1523G possibly damaging Het
Uchl4 A T 9: 64,142,788 (GRCm39) T90S probably benign Het
Other mutations in Prr36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01410:Prr36 APN 8 4,266,230 (GRCm39) missense probably benign 0.01
IGL01535:Prr36 APN 8 4,264,043 (GRCm39) unclassified probably benign
IGL01658: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 2015-04-16