Incidental Mutation 'IGL01395:Prdm5'
ID 79399
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 # IGL01395
Quality Score
Status
Chromosome 6
Chromosomal Location 65755972-65913994 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65847374 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 155 (H155R)
Ref Sequence ENSEMBL: ENSMUSP00000031973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031973] [ENSMUST00000031976] [ENSMUST00000081219] [ENSMUST00000172638]
AlphaFold Q9CXE0
Predicted Effect possibly damaging
Transcript: ENSMUST00000031973
AA Change: H155R

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031973
Gene: ENSMUSG00000029913
AA Change: H155R

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
AA Change: H339R

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000031976
Gene: ENSMUSG00000029913
AA Change: H339R

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 possibly damaging
Transcript: ENSMUST00000172638
AA Change: H339R

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133423
Gene: ENSMUSG00000029913
AA Change: H339R

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C T 18: 67,575,880 (GRCm39) R52H probably benign Het
Alg8 T A 7: 97,027,383 (GRCm39) Y84N possibly damaging Het
B3gnt4 T A 5: 123,649,131 (GRCm39) F165L probably damaging Het
Calcrl T C 2: 84,198,919 (GRCm39) I157V probably benign Het
Clpx T C 9: 65,209,133 (GRCm39) S83P probably benign Het
Col7a1 G A 9: 108,812,980 (GRCm39) probably benign Het
Cttn A G 7: 144,011,464 (GRCm39) V115A probably damaging Het
Dcaf1 G A 9: 106,735,361 (GRCm39) V770I possibly damaging Het
Ddx19a A G 8: 111,717,164 (GRCm39) probably benign Het
Dennd6a T A 14: 26,338,056 (GRCm39) Y175* probably null Het
Dhx58 C T 11: 100,594,752 (GRCm39) G48D probably damaging Het
Dnah8 T A 17: 30,854,979 (GRCm39) F178I probably benign Het
Eif5b T C 1: 38,076,339 (GRCm39) I629T probably damaging Het
Frrs1 A G 3: 116,694,654 (GRCm39) I492V probably benign Het
Gm16505 G A 13: 3,411,242 (GRCm39) noncoding transcript Het
Golga4 G A 9: 118,364,441 (GRCm39) G259D probably damaging Het
Gpatch8 T C 11: 102,371,534 (GRCm39) H668R unknown Het
Gucy2c G T 6: 136,675,027 (GRCm39) Q1019K probably damaging Het
Hivep2 T C 10: 14,008,544 (GRCm39) probably null Het
Jph2 T C 2: 163,181,847 (GRCm39) N439S probably benign Het
Knl1 T A 2: 118,902,047 (GRCm39) D1249E probably damaging Het
Lrrc37a A G 11: 103,394,687 (GRCm39) V246A probably benign Het
Mast1 T C 8: 85,639,444 (GRCm39) D1295G possibly damaging Het
Mical2 T A 7: 111,922,792 (GRCm39) M599K probably damaging Het
Nr3c2 T C 8: 77,635,477 (GRCm39) S193P possibly damaging Het
Nr4a2 T A 2: 57,002,165 (GRCm39) Q33L probably damaging Het
Nrap A T 19: 56,350,225 (GRCm39) M514K probably damaging Het
Or1d2 T C 11: 74,255,713 (GRCm39) F73L probably damaging Het
Or5ac16 T A 16: 59,022,460 (GRCm39) T110S possibly damaging Het
Or9i2 A T 19: 13,816,316 (GRCm39) S74T probably damaging Het
Pde5a T C 3: 122,611,604 (GRCm39) I514T probably benign Het
Plxna4 A G 6: 32,216,368 (GRCm39) V569A probably damaging Het
Ppm1k T C 6: 57,490,943 (GRCm39) H324R probably benign Het
Prpf19 C T 19: 10,878,375 (GRCm39) T287I probably damaging Het
Prpf8 C A 11: 75,385,121 (GRCm39) A794D possibly damaging Het
Pygb C A 2: 150,643,503 (GRCm39) Q97K probably benign Het
Rab27b T C 18: 70,118,288 (GRCm39) K210E probably benign Het
Rttn T G 18: 89,147,894 (GRCm39) N2182K possibly damaging Het
Rusc1 T C 3: 88,999,728 (GRCm39) Q18R probably damaging Het
Stat4 C T 1: 52,051,033 (GRCm39) R31W probably damaging Het
Tas2r135 T A 6: 42,382,846 (GRCm39) C128* probably null Het
Tm9sf3 T C 19: 41,244,715 (GRCm39) E54G probably damaging Het
Tmx1 A T 12: 70,507,251 (GRCm39) probably null Het
Tnrc6c T A 11: 117,613,939 (GRCm39) V859E probably benign Het
Uggt1 T C 1: 36,194,158 (GRCm39) D1360G probably damaging Het
Other mutations in Prdm5
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03190:Prdm5 APN 6 65,833,116 (GRCm39) splice site probably benign
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 2013-11-05