Incidental Mutation 'R0196:P3h3'
ID 23432
Institutional Source Beutler Lab
Gene Symbol P3h3
Ensembl Gene ENSMUSG00000023191
Gene Name prolyl 3-hydroxylase 3
Synonyms Leprel2, Grcb
MMRRC Submission 038455-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0196 (G1)
Quality Score 210
Status Not validated
Chromosome 6
Chromosomal Location 124818052-124834680 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 124822235 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 583 (N583Y)
Ref Sequence ENSEMBL: ENSMUSP00000023958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023958] [ENSMUST00000024206] [ENSMUST00000135127]
AlphaFold Q8CG70
Predicted Effect probably damaging
Transcript: ENSMUST00000023958
AA Change: N583Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023958
Gene: ENSMUSG00000023191
AA Change: N583Y

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 58 76 N/A INTRINSIC
low complexity region 127 142 N/A INTRINSIC
low complexity region 222 242 N/A INTRINSIC
low complexity region 256 277 N/A INTRINSIC
P4Hc 460 670 8.51e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000024206
SMART Domains Protein: ENSMUSP00000024206
Gene: ENSMUSG00000023439

DomainStartEndE-ValueType
WD40 44 83 4.91e-8 SMART
WD40 86 125 1.61e-3 SMART
WD40 132 170 5.1e-6 SMART
WD40 173 212 3.99e-8 SMART
WD40 215 254 2.67e-9 SMART
WD40 263 298 2e-1 SMART
WD40 301 340 3.87e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126987
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129225
Predicted Effect probably benign
Transcript: ENSMUST00000135127
SMART Domains Protein: ENSMUSP00000116338
Gene: ENSMUSG00000023191

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 58 76 N/A INTRINSIC
low complexity region 127 142 N/A INTRINSIC
low complexity region 222 242 N/A INTRINSIC
low complexity region 256 277 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149870
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 93.8%
  • 20x: 81.8%
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 belongs to the leprecan family of proteoglycans, which function as collagen prolyl hydroxylases that are required for proper collagen biosynthesis, folding and assembly. This protein, like other family members, is thought to reside in the endoplasmic reticulum. Epigenetic inactivation of this gene is associated with breast and other cancers, suggesting that it may function as a tumor suppressor. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit collagen fiber fragility in the skin. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A G 2: 68,446,591 (GRCm39) probably benign Het
Aass G A 6: 23,109,519 (GRCm39) P317L probably damaging Het
Abca12 T A 1: 71,298,972 (GRCm39) N2313I possibly damaging Het
Adamts12 T C 15: 11,071,594 (GRCm39) I46T probably benign Het
Adipoq T G 16: 22,965,393 (GRCm39) probably null Het
Amy1 A T 3: 113,363,070 (GRCm39) D92E probably benign Het
Asb15 G A 6: 24,564,392 (GRCm39) R282Q probably damaging Het
Bag6 G C 17: 35,363,239 (GRCm39) G693A probably damaging Het
Birc6 T C 17: 74,887,282 (GRCm39) I870T possibly damaging Het
Cand2 A G 6: 115,766,463 (GRCm39) K356R probably damaging Het
Cbfa2t3 T C 8: 123,360,076 (GRCm39) Q525R possibly damaging Het
Cd4 T C 6: 124,844,769 (GRCm39) R339G probably damaging Het
Cdh8 A G 8: 99,917,066 (GRCm39) S350P probably damaging Het
Cep295 A T 9: 15,249,509 (GRCm39) S469T probably damaging Het
Ckap2l A T 2: 129,127,342 (GRCm39) S279T probably benign Het
Clnk T A 5: 38,927,282 (GRCm39) N66Y probably damaging Het
Col27a1 A T 4: 63,142,503 (GRCm39) T64S probably benign Het
Crtc1 T C 8: 70,838,871 (GRCm39) D599G probably damaging Het
Cyp2c23 A C 19: 44,000,795 (GRCm39) I363S probably damaging Het
Dnah10 A T 5: 124,911,139 (GRCm39) I4519F possibly damaging Het
Dner T A 1: 84,348,553 (GRCm39) I716F probably damaging Het
Dsel T G 1: 111,789,333 (GRCm39) T401P possibly damaging Het
Egfr A G 11: 16,861,746 (GRCm39) D1175G probably benign Het
Ephb3 A T 16: 21,036,804 (GRCm39) N343I probably damaging Het
Fbxw10 T A 11: 62,768,070 (GRCm39) F974I probably benign Het
Gfi1b T C 2: 28,503,786 (GRCm39) Y138C probably damaging Het
Gm11168 T A 9: 3,005,175 (GRCm39) L6H probably benign Het
Grb10 A C 11: 11,895,583 (GRCm39) V247G probably damaging Het
Gstp2 A T 19: 4,090,514 (GRCm39) probably null Het
Hars2 C T 18: 36,922,257 (GRCm39) Q291* probably null Het
Hyal4 G T 6: 24,756,220 (GRCm39) W146L probably damaging Het
Il22ra1 C T 4: 135,461,556 (GRCm39) T107I possibly damaging Het
Itga8 A G 2: 12,209,540 (GRCm39) probably null Het
Klhl25 T C 7: 75,515,450 (GRCm39) S119P probably damaging Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Lrrc8c T C 5: 105,754,636 (GRCm39) V137A probably benign Het
Macrod2 A T 2: 142,018,545 (GRCm39) E226V probably damaging Het
Mcemp1 A T 8: 3,718,201 (GRCm39) Q165L probably benign Het
Mcpt9 T A 14: 56,265,453 (GRCm39) K82M probably benign Het
Mpzl3 A G 9: 44,973,458 (GRCm39) T66A probably damaging Het
Msh6 G A 17: 88,287,788 (GRCm39) V143I possibly damaging Het
Mug1 G A 6: 121,815,684 (GRCm39) probably null Het
Ncr1 G T 7: 4,343,972 (GRCm39) C153F probably damaging Het
Nf1 T A 11: 79,359,595 (GRCm39) M1411K possibly damaging Het
Nf1 T A 11: 79,469,098 (GRCm39) V786D probably damaging Het
Nisch T C 14: 30,925,351 (GRCm39) probably benign Het
Nwd2 T A 5: 63,963,694 (GRCm39) Y1093N probably benign Het
Oas3 G A 5: 120,894,210 (GRCm39) R39C probably damaging Het
Or1e32 A T 11: 73,705,731 (GRCm39) M59K probably damaging Het
Or7a36 C T 10: 78,820,023 (GRCm39) T133I possibly damaging Het
Oxa1l T C 14: 54,600,944 (GRCm39) I139T probably damaging Het
Pcdh18 A T 3: 49,711,147 (GRCm39) probably null Het
Pcnp C T 16: 55,844,896 (GRCm39) probably benign Het
Pdzd8 G T 19: 59,289,563 (GRCm39) D612E probably benign Het
Pi4kb T C 3: 94,906,261 (GRCm39) S8P probably damaging Het
Pikfyve T G 1: 65,295,231 (GRCm39) V1454G possibly damaging Het
Podn T C 4: 107,878,695 (GRCm39) N246D probably damaging Het
Prg4 T C 1: 150,330,243 (GRCm39) probably benign Het
R3hdm2 T C 10: 127,320,390 (GRCm39) Y523H probably damaging Het
Rpf1 T A 3: 146,213,904 (GRCm39) E231V possibly damaging Het
Slc16a10 C T 10: 39,932,611 (GRCm39) E317K probably benign Het
Slc34a1 A T 13: 55,560,078 (GRCm39) I435F probably damaging Het
Snx19 A G 9: 30,344,683 (GRCm39) D629G probably damaging Het
Tomm70a T C 16: 56,966,463 (GRCm39) I472T probably benign Het
Trp53 A G 11: 69,479,506 (GRCm39) Y202C probably damaging Het
Ttc14 T A 3: 33,863,403 (GRCm39) probably benign Het
Ugt1a1 C T 1: 88,140,277 (GRCm39) A185V possibly damaging Het
Usp28 A G 9: 48,939,578 (GRCm39) D655G probably damaging Het
Vmn1r215 C T 13: 23,260,254 (GRCm39) T98I probably damaging Het
Vmn2r121 G T X: 123,041,879 (GRCm39) T426N probably benign Het
Vmn2r99 A G 17: 19,614,835 (GRCm39) N852D probably benign Het
Xrn2 T A 2: 146,889,580 (GRCm39) D654E probably damaging Het
Yju2 C A 17: 56,271,653 (GRCm39) D191E probably damaging Het
Zfp335 C G 2: 164,738,065 (GRCm39) A849P possibly damaging Het
Zfp954 C T 7: 7,118,390 (GRCm39) V385M probably damaging Het
Zmynd15 A G 11: 70,355,052 (GRCm39) T350A probably damaging Het
Other mutations in P3h3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00985:P3h3 APN 6 124,822,552 (GRCm39) missense probably benign 0.26
IGL02158:P3h3 APN 6 124,830,055 (GRCm39) missense probably damaging 1.00
IGL02654:P3h3 APN 6 124,822,228 (GRCm39) missense possibly damaging 0.95
P0040:P3h3 UTSW 6 124,830,099 (GRCm39) missense probably damaging 0.99
R0024:P3h3 UTSW 6 124,834,421 (GRCm39) missense probably benign
R0328:P3h3 UTSW 6 124,831,269 (GRCm39) unclassified probably benign
R0589:P3h3 UTSW 6 124,818,644 (GRCm39) missense probably damaging 1.00
R0605:P3h3 UTSW 6 124,832,998 (GRCm39) missense probably damaging 1.00
R0793:P3h3 UTSW 6 124,831,896 (GRCm39) missense probably benign 0.00
R0794:P3h3 UTSW 6 124,831,896 (GRCm39) missense probably benign 0.00
R0795:P3h3 UTSW 6 124,831,896 (GRCm39) missense probably benign 0.00
R0796:P3h3 UTSW 6 124,831,896 (GRCm39) missense probably benign 0.00
R0853:P3h3 UTSW 6 124,831,896 (GRCm39) missense probably benign 0.00
R0854:P3h3 UTSW 6 124,831,896 (GRCm39) missense probably benign 0.00
R0856:P3h3 UTSW 6 124,831,896 (GRCm39) missense probably benign 0.00
R0893:P3h3 UTSW 6 124,822,476 (GRCm39) missense probably damaging 1.00
R1819:P3h3 UTSW 6 124,831,895 (GRCm39) missense probably benign 0.05
R2100:P3h3 UTSW 6 124,822,005 (GRCm39) missense probably damaging 1.00
R4332:P3h3 UTSW 6 124,819,099 (GRCm39) missense probably damaging 1.00
R4461:P3h3 UTSW 6 124,822,531 (GRCm39) missense probably benign 0.08
R4533:P3h3 UTSW 6 124,831,371 (GRCm39) missense possibly damaging 0.62
R4829:P3h3 UTSW 6 124,818,601 (GRCm39) utr 3 prime probably benign
R4840:P3h3 UTSW 6 124,827,600 (GRCm39) missense possibly damaging 0.82
R4962:P3h3 UTSW 6 124,818,736 (GRCm39) missense probably benign 0.09
R5014:P3h3 UTSW 6 124,832,199 (GRCm39) missense probably damaging 1.00
R5591:P3h3 UTSW 6 124,831,658 (GRCm39) unclassified probably benign
R5691:P3h3 UTSW 6 124,832,116 (GRCm39) missense probably damaging 1.00
R5777:P3h3 UTSW 6 124,832,921 (GRCm39) missense probably benign 0.24
R5846:P3h3 UTSW 6 124,834,157 (GRCm39) critical splice donor site probably null
R6212:P3h3 UTSW 6 124,822,606 (GRCm39) missense probably benign 0.19
R6254:P3h3 UTSW 6 124,822,564 (GRCm39) missense probably damaging 1.00
R6320:P3h3 UTSW 6 124,831,835 (GRCm39) missense probably benign 0.02
R6860:P3h3 UTSW 6 124,834,331 (GRCm39) missense probably benign 0.01
R7385:P3h3 UTSW 6 124,832,233 (GRCm39) missense probably damaging 1.00
R7472:P3h3 UTSW 6 124,827,594 (GRCm39) missense possibly damaging 0.92
R7617:P3h3 UTSW 6 124,832,969 (GRCm39) missense probably damaging 1.00
R7763:P3h3 UTSW 6 124,831,395 (GRCm39) missense probably benign 0.00
R7831:P3h3 UTSW 6 124,832,118 (GRCm39) missense possibly damaging 0.86
R8317:P3h3 UTSW 6 124,832,116 (GRCm39) missense probably damaging 1.00
R8436:P3h3 UTSW 6 124,828,041 (GRCm39) critical splice donor site probably null
R8749:P3h3 UTSW 6 124,822,940 (GRCm39) missense probably damaging 0.99
R8944:P3h3 UTSW 6 124,832,196 (GRCm39) missense possibly damaging 0.86
R8988:P3h3 UTSW 6 124,834,564 (GRCm39) missense possibly damaging 0.74
R9508:P3h3 UTSW 6 124,830,012 (GRCm39) critical splice donor site probably null
X0021:P3h3 UTSW 6 124,832,992 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCGCCTCCCTTGAAGTCATCATTG -3'
(R):5'- TGCCGAAGTGCCATAGAAGGTAAC -3'

Sequencing Primer
(F):5'- CCCTTGAAGTCATCATTGAGGTAGAG -3'
(R):5'- GCAGAAAGTCCCCCACTGG -3'
Posted On 2013-04-16