Incidental Mutation 'R6371:P3h4'
ID 513531
Institutional Source Beutler Lab
Gene Symbol P3h4
Ensembl Gene ENSMUSG00000006931
Gene Name prolyl 3-hydroxylase family member 4 (non-enzymatic)
Synonyms 1110036O03Rik, Leprel4
MMRRC Submission 044521-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R6371 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 100299293-100305542 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 100302575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 354 (E354K)
Ref Sequence ENSEMBL: ENSMUSP00000065278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001595] [ENSMUST00000066489] [ENSMUST00000107400]
AlphaFold Q8K2B0
Predicted Effect probably benign
Transcript: ENSMUST00000001595
SMART Domains Protein: ENSMUSP00000001595
Gene: ENSMUSG00000001555

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:FKBP_C 54 146 5.4e-30 PFAM
Pfam:FKBP_C 166 258 4e-29 PFAM
Pfam:FKBP_C 278 370 2.3e-28 PFAM
Pfam:FKBP_C 391 482 6.2e-26 PFAM
EFh 503 528 2.16e0 SMART
EFh 545 573 2.04e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000066489
AA Change: E354K

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000065278
Gene: ENSMUSG00000006931
AA Change: E354K

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 56 70 N/A INTRINSIC
low complexity region 93 104 N/A INTRINSIC
internal_repeat_1 151 215 5.16e-8 PROSPERO
internal_repeat_1 302 364 5.16e-8 PROSPERO
low complexity region 385 408 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107400
SMART Domains Protein: ENSMUSP00000103023
Gene: ENSMUSG00000001555

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:FKBP_C 54 146 1.4e-29 PFAM
Pfam:FKBP_C 166 258 2e-29 PFAM
Pfam:FKBP_C 279 370 4.9e-26 PFAM
EFh 391 416 2.16e0 SMART
EFh 433 461 2.04e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134815
SMART Domains Protein: ENSMUSP00000123577
Gene: ENSMUSG00000001555

DomainStartEndE-ValueType
Pfam:FKBP_C 34 65 1.6e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141840
Meta Mutation Damage Score 0.1808 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.2%
  • 20x: 94.1%
Validation Efficiency 98% (50/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This nucleolar protein was first characterized because it was an autoantigen in cases on interstitial cystitis. The protein, with a predicted molecular weight of 50 kDa, appears to be localized in the particulate compartment of the interphase nucleolus, with a distribution distinct from that of nucleolar protein B23. During mitosis it is associated with chromosomes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased trabecular volume, compact bone thickness, skin tensile strength and muscle below the hypodermis with decreased cutaneous collagen fiber density. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b C T 12: 113,453,894 (GRCm39) S237L probably damaging Het
Ank3 T G 10: 69,644,709 (GRCm39) L58V probably damaging Het
Arsb A T 13: 93,926,574 (GRCm39) I115F possibly damaging Het
Atad2b T C 12: 5,023,970 (GRCm39) Y32H probably damaging Het
Brd1 A C 15: 88,598,201 (GRCm39) M515R probably benign Het
Cbx7 A G 15: 79,803,023 (GRCm39) S30P possibly damaging Het
Cdk12 A G 11: 98,136,114 (GRCm39) T1123A unknown Het
Cep170b A G 12: 112,707,379 (GRCm39) D375G probably damaging Het
Clcn3 T C 8: 61,390,369 (GRCm39) K164E probably benign Het
Clip4 A C 17: 72,163,459 (GRCm39) K677T probably damaging Het
Clrn2 T C 5: 45,617,540 (GRCm39) I137T possibly damaging Het
Cntln T C 4: 84,802,816 (GRCm39) S39P probably damaging Het
Crocc2 T A 1: 93,143,353 (GRCm39) N1318K probably benign Het
Emc1 C T 4: 139,098,976 (GRCm39) Q820* probably null Het
Fbxl2 G A 9: 113,818,451 (GRCm39) T170I probably damaging Het
Fyb2 A G 4: 104,852,975 (GRCm39) T552A probably damaging Het
Garin5b A G 7: 4,762,358 (GRCm39) V257A probably benign Het
Gm2381 G A 7: 42,470,010 (GRCm39) A38V probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Helz2 C T 2: 180,875,260 (GRCm39) E1745K probably damaging Het
Hspg2 T C 4: 137,269,006 (GRCm39) Y2213H probably damaging Het
Ifnar2 T C 16: 91,184,986 (GRCm39) Y24H possibly damaging Het
Inpp5d T A 1: 87,627,397 (GRCm39) L566Q probably damaging Het
Itgb2 C A 10: 77,384,431 (GRCm39) P184H probably damaging Het
Kcnb2 T A 1: 15,781,436 (GRCm39) D769E probably benign Het
Lrp1b A G 2: 40,741,666 (GRCm39) M3087T possibly damaging Het
Ltbp3 A G 19: 5,795,800 (GRCm39) probably null Het
Ms4a6b A G 19: 11,497,728 (GRCm39) E9G probably damaging Het
Nat3 G A 8: 67,976,831 (GRCm39) probably null Het
Ndufaf1 A T 2: 119,490,534 (GRCm39) D175E probably damaging Het
Nop58 T G 1: 59,750,471 (GRCm39) probably benign Het
Or10al6 A G 17: 38,083,326 (GRCm39) T261A probably benign Het
Or8s16 A G 15: 98,211,219 (GRCm39) Y71H possibly damaging Het
Plekhm2 T G 4: 141,356,843 (GRCm39) T787P possibly damaging Het
Ppia C T 11: 6,368,230 (GRCm39) T37I probably benign Het
Reln T A 5: 22,200,511 (GRCm39) M1330L probably benign Het
Ric1 A G 19: 29,539,426 (GRCm39) E53G probably benign Het
Sgip1 T A 4: 102,823,482 (GRCm39) V721E probably damaging Het
Slc33a1 A T 3: 63,850,709 (GRCm39) D538E probably benign Het
Son T C 16: 91,471,629 (GRCm39) Het
Srebf1 A T 11: 60,094,341 (GRCm39) S591R probably damaging Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Taok2 G A 7: 126,469,319 (GRCm39) R1170W probably damaging Het
Tsc2 A T 17: 24,845,688 (GRCm39) V210E probably benign Het
Ttc6 T A 12: 57,775,249 (GRCm39) N1648K possibly damaging Het
Vgll3 C T 16: 65,636,131 (GRCm39) P94L probably damaging Het
Vmn2r54 A T 7: 12,349,362 (GRCm39) V740E probably damaging Het
Yeats2 A G 16: 20,040,460 (GRCm39) E1127G possibly damaging Het
Zfp709 T A 8: 72,643,329 (GRCm39) Y252N probably damaging Het
Other mutations in P3h4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02208:P3h4 APN 11 100,304,901 (GRCm39) missense probably damaging 0.96
slight UTSW 11 100,302,671 (GRCm39) missense probably damaging 0.99
R2204:P3h4 UTSW 11 100,304,832 (GRCm39) missense probably benign 0.02
R2441:P3h4 UTSW 11 100,304,594 (GRCm39) missense probably damaging 1.00
R4356:P3h4 UTSW 11 100,304,452 (GRCm39) missense probably damaging 1.00
R4358:P3h4 UTSW 11 100,304,452 (GRCm39) missense probably damaging 1.00
R5762:P3h4 UTSW 11 100,302,677 (GRCm39) missense probably damaging 1.00
R5877:P3h4 UTSW 11 100,304,843 (GRCm39) missense probably benign 0.05
R6167:P3h4 UTSW 11 100,302,671 (GRCm39) missense probably damaging 0.99
R7830:P3h4 UTSW 11 100,304,869 (GRCm39) missense probably damaging 1.00
R9652:P3h4 UTSW 11 100,304,499 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCCACATCCCAGACATGCTG -3'
(R):5'- ACATATTCTGAGAGGCGTCTGG -3'

Sequencing Primer
(F):5'- TGCTGAAGCCTAGACTCTAGC -3'
(R):5'- GGTGAGTGGATTGCCTTTAAAG -3'
Posted On 2018-04-27