Incidental Mutation 'IGL03190:Prdm5'
ID 412632
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prdm5
Ensembl Gene ENSMUSG00000029913
Gene Name PR domain containing 5
Synonyms 6530401I24Rik, PFM2, E130112L17Rik, 4432417F03Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03190
Quality Score
Status
Chromosome 6
Chromosomal Location 65755972-65913994 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 65833116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031973] [ENSMUST00000031976] [ENSMUST00000081219] [ENSMUST00000172638]
AlphaFold Q9CXE0
Predicted Effect probably benign
Transcript: ENSMUST00000031973
SMART Domains Protein: ENSMUSP00000031973
Gene: ENSMUSG00000029913

DomainStartEndE-ValueType
PDB:3EP0|B 4 101 1e-11 PDB
Blast:SET 8 100 4e-64 BLAST
ZnF_C2H2 105 127 3.16e-3 SMART
ZnF_C2H2 133 155 8.81e-2 SMART
ZnF_C2H2 161 183 1.95e-3 SMART
ZnF_C2H2 189 211 6.78e-3 SMART
ZnF_C2H2 217 240 1.2e-3 SMART
ZnF_C2H2 246 268 4.87e-4 SMART
ZnF_C2H2 274 296 2.4e-3 SMART
ZnF_C2H2 302 324 2.43e-4 SMART
ZnF_C2H2 330 352 3.21e-4 SMART
ZnF_C2H2 358 380 1.45e-2 SMART
ZnF_C2H2 387 410 1.43e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000031976
SMART Domains Protein: ENSMUSP00000031976
Gene: ENSMUSG00000029913

DomainStartEndE-ValueType
SET 8 130 2.01e-4 SMART
ZnF_C2H2 167 190 3.39e-3 SMART
ZnF_C2H2 199 221 1.04e-3 SMART
ZnF_C2H2 231 256 1.26e-2 SMART
ZnF_C2H2 264 286 1.95e-3 SMART
ZnF_C2H2 289 311 3.16e-3 SMART
ZnF_C2H2 317 339 8.81e-2 SMART
ZnF_C2H2 345 367 1.95e-3 SMART
ZnF_C2H2 373 395 6.78e-3 SMART
ZnF_C2H2 401 424 1.2e-3 SMART
ZnF_C2H2 430 452 4.87e-4 SMART
ZnF_C2H2 458 480 2.4e-3 SMART
ZnF_C2H2 486 508 2.43e-4 SMART
ZnF_C2H2 514 536 3.21e-4 SMART
ZnF_C2H2 542 564 1.45e-2 SMART
ZnF_C2H2 571 594 1.43e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000081219
SMART Domains Protein: ENSMUSP00000079979
Gene: ENSMUSG00000029913

DomainStartEndE-ValueType
Blast:SET 8 72 2e-34 BLAST
ZnF_C2H2 80 102 2.4e-3 SMART
ZnF_C2H2 108 130 2.43e-4 SMART
ZnF_C2H2 136 158 3.21e-4 SMART
ZnF_C2H2 164 186 1.45e-2 SMART
ZnF_C2H2 193 216 1.43e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172638
SMART Domains Protein: ENSMUSP00000133423
Gene: ENSMUSG00000029913

DomainStartEndE-ValueType
SET 8 130 2.01e-4 SMART
ZnF_C2H2 167 190 3.39e-3 SMART
ZnF_C2H2 199 221 1.04e-3 SMART
ZnF_C2H2 231 256 1.26e-2 SMART
ZnF_C2H2 264 286 1.95e-3 SMART
ZnF_C2H2 289 311 3.16e-3 SMART
ZnF_C2H2 317 339 8.81e-2 SMART
ZnF_C2H2 345 367 1.95e-3 SMART
ZnF_C2H2 373 395 6.78e-3 SMART
ZnF_C2H2 401 424 1.2e-3 SMART
ZnF_C2H2 430 452 4.87e-4 SMART
ZnF_C2H2 458 480 2.4e-3 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a hypomorphic allele display delayed bone ossification with reduced collagen fibril formation, total bone area, bone mineral content and bone mineral density. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 A T 14: 56,016,510 (GRCm39) C314S probably damaging Het
Agr2 T A 12: 36,048,634 (GRCm39) I128N probably damaging Het
Akr1c6 T C 13: 4,496,412 (GRCm39) I91T possibly damaging Het
Ankrd45 A G 1: 160,990,909 (GRCm39) I221V probably benign Het
Armc3 A T 2: 19,293,761 (GRCm39) L517F probably damaging Het
Atp13a3 A T 16: 30,141,766 (GRCm39) M1129K probably benign Het
Atp6v0a4 T A 6: 38,031,491 (GRCm39) Q670L probably benign Het
Bank1 T C 3: 135,806,185 (GRCm39) Y483C probably damaging Het
Bcan A T 3: 87,900,357 (GRCm39) probably benign Het
Bcl11a G A 11: 24,108,333 (GRCm39) E104K probably benign Het
Clasp2 C T 9: 113,673,208 (GRCm39) Q368* probably null Het
Clcn1 T A 6: 42,267,037 (GRCm39) Y71N probably benign Het
Cul2 C T 18: 3,429,634 (GRCm39) T498I possibly damaging Het
Fat4 A G 3: 39,035,390 (GRCm39) D3014G probably damaging Het
Flnc T C 6: 29,445,636 (GRCm39) probably benign Het
Il36g C A 2: 24,077,272 (GRCm39) S28* probably null Het
Itgb3bp A G 4: 99,677,923 (GRCm39) probably benign Het
Itm2b G A 14: 73,603,229 (GRCm39) P120L probably damaging Het
Klk1b26 T C 7: 43,662,151 (GRCm39) F3S possibly damaging Het
Lin52 T C 12: 84,504,732 (GRCm39) V39A probably damaging Het
Magt1 A C X: 105,032,622 (GRCm39) N242K probably benign Het
Nos3 A G 5: 24,588,627 (GRCm39) M1118V probably damaging Het
Or1j13 A T 2: 36,369,734 (GRCm39) M136K probably damaging Het
Or6k2 T C 1: 173,987,110 (GRCm39) V257A probably damaging Het
Paqr5 A C 9: 61,880,084 (GRCm39) L56R probably damaging Het
Pcdhb16 T C 18: 37,612,396 (GRCm39) F452S probably damaging Het
Rps6ka5 A G 12: 100,524,907 (GRCm39) probably benign Het
Slc22a5 A G 11: 53,765,840 (GRCm39) F249L probably benign Het
Spata31f1a C A 4: 42,848,362 (GRCm39) G1265C probably benign Het
Ttll2 T C 17: 7,618,779 (GRCm39) K383E probably benign Het
Ube2o G A 11: 116,435,954 (GRCm39) P353L probably damaging Het
Vmn1r63 T C 7: 5,806,110 (GRCm39) D174G probably benign Het
Vmn2r82 A G 10: 79,192,643 (GRCm39) probably null Het
Xpnpep2 T A X: 47,207,205 (GRCm39) probably benign Het
Zfp352 T A 4: 90,111,994 (GRCm39) S45T possibly damaging Het
Zfp811 A G 17: 33,017,855 (GRCm39) probably benign Het
Zfyve19 G A 2: 119,046,717 (GRCm39) A304T probably damaging Het
Other mutations in Prdm5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01395:Prdm5 APN 6 65,847,374 (GRCm39) missense possibly damaging 0.93
IGL02363:Prdm5 APN 6 65,771,303 (GRCm39) missense probably damaging 1.00
IGL02457:Prdm5 APN 6 65,858,100 (GRCm39) missense probably damaging 1.00
IGL03239:Prdm5 APN 6 65,863,062 (GRCm39) splice site probably benign
IGL03377:Prdm5 APN 6 65,836,457 (GRCm39) missense possibly damaging 0.93
R0329:Prdm5 UTSW 6 65,839,887 (GRCm39) splice site probably benign
R0926:Prdm5 UTSW 6 65,860,531 (GRCm39) missense probably damaging 0.99
R1458:Prdm5 UTSW 6 65,860,585 (GRCm39) missense probably damaging 0.99
R1859:Prdm5 UTSW 6 65,808,263 (GRCm39) missense probably benign 0.03
R1956:Prdm5 UTSW 6 65,913,060 (GRCm39) missense probably damaging 1.00
R1996:Prdm5 UTSW 6 65,913,072 (GRCm39) missense probably damaging 1.00
R1997:Prdm5 UTSW 6 65,913,072 (GRCm39) missense probably damaging 1.00
R2019:Prdm5 UTSW 6 65,808,340 (GRCm39) missense probably damaging 0.99
R3082:Prdm5 UTSW 6 65,913,069 (GRCm39) missense probably damaging 1.00
R3819:Prdm5 UTSW 6 65,913,041 (GRCm39) missense possibly damaging 0.92
R4411:Prdm5 UTSW 6 65,878,771 (GRCm39) nonsense probably null
R4981:Prdm5 UTSW 6 65,847,446 (GRCm39) missense probably damaging 0.99
R5077:Prdm5 UTSW 6 65,756,158 (GRCm39) missense probably damaging 0.97
R5089:Prdm5 UTSW 6 65,833,074 (GRCm39) missense probably benign 0.01
R5138:Prdm5 UTSW 6 65,833,086 (GRCm39) nonsense probably null
R5735:Prdm5 UTSW 6 65,904,974 (GRCm39) missense possibly damaging 0.93
R6355:Prdm5 UTSW 6 65,860,578 (GRCm39) missense probably damaging 1.00
R6743:Prdm5 UTSW 6 65,860,635 (GRCm39) missense probably damaging 1.00
R6769:Prdm5 UTSW 6 65,839,920 (GRCm39) missense probably damaging 0.98
R7216:Prdm5 UTSW 6 65,904,967 (GRCm39) nonsense probably null
R7305:Prdm5 UTSW 6 65,808,244 (GRCm39) missense possibly damaging 0.83
R7510:Prdm5 UTSW 6 65,904,976 (GRCm39) missense probably damaging 0.97
R8270:Prdm5 UTSW 6 65,913,058 (GRCm39) missense probably damaging 1.00
R8529:Prdm5 UTSW 6 65,878,829 (GRCm39) missense probably damaging 1.00
R8856:Prdm5 UTSW 6 65,860,569 (GRCm39) missense possibly damaging 0.80
R9283:Prdm5 UTSW 6 65,858,060 (GRCm39) missense probably damaging 0.98
R9427:Prdm5 UTSW 6 65,771,321 (GRCm39) missense possibly damaging 0.65
R9477:Prdm5 UTSW 6 65,771,342 (GRCm39) missense possibly damaging 0.48
X0017:Prdm5 UTSW 6 65,846,246 (GRCm39) missense possibly damaging 0.94
Posted On 2016-08-02