Incidental Mutation 'R5058:Pgghg'
ID 391021
Institutional Source Beutler Lab
Gene Symbol Pgghg
Ensembl Gene ENSMUSG00000062031
Gene Name protein glucosylgalactosylhydroxylysine glucosidase
Synonyms 5730511L01Rik, Athl1
MMRRC Submission 042648-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.164) question?
Stock # R5058 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 140521304-140527577 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 140522455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 63 (T63I)
Ref Sequence ENSEMBL: ENSMUSP00000128478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079403] [ENSMUST00000163094] [ENSMUST00000164580]
AlphaFold Q8BP56
Predicted Effect probably benign
Transcript: ENSMUST00000079403
AA Change: T78I

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000078372
Gene: ENSMUSG00000062031
AA Change: T78I

DomainStartEndE-ValueType
Pfam:Glyco_hydro_65m 279 496 3.5e-49 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000163094
AA Change: T63I

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164337
SMART Domains Protein: ENSMUSP00000127119
Gene: ENSMUSG00000062031

DomainStartEndE-ValueType
Pfam:Glyco_hydro_65m 219 464 3.8e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164580
AA Change: T78I

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000128214
Gene: ENSMUSG00000062031
AA Change: T78I

DomainStartEndE-ValueType
Pfam:Glyco_hydro_65m 279 496 3.6e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168084
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169736
Meta Mutation Damage Score 0.0800 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.2%
Validation Efficiency 100% (79/79)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 T C 8: 13,292,625 (GRCm39) Y222C probably damaging Het
Adprs A G 4: 126,212,238 (GRCm39) S94P probably damaging Het
Atp11b A G 3: 35,863,510 (GRCm39) E202G probably benign Het
Cacna1d G T 14: 29,836,201 (GRCm39) S849* probably null Het
Camsap1 T C 2: 25,829,375 (GRCm39) D783G probably benign Het
Cbfa2t2 T A 2: 154,346,665 (GRCm39) I124N probably damaging Het
Ccdc13 A T 9: 121,646,613 (GRCm39) probably benign Het
Cfap44 G A 16: 44,240,567 (GRCm39) probably null Het
Col17a1 C A 19: 47,673,989 (GRCm39) E13* probably null Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dennd6b A G 15: 89,071,553 (GRCm39) L288P possibly damaging Het
Dhx37 A C 5: 125,499,295 (GRCm39) Y638D probably benign Het
Epb41 G A 4: 131,734,746 (GRCm39) probably benign Het
Esp31 A T 17: 38,955,500 (GRCm39) I48L possibly damaging Het
Fat3 T C 9: 15,908,154 (GRCm39) Q2616R probably damaging Het
Fbxo33 A G 12: 59,265,919 (GRCm39) I116T probably benign Het
Flnb G T 14: 7,924,262 (GRCm38) E1792* probably null Het
Fzd2 G A 11: 102,495,633 (GRCm39) G26R probably damaging Het
Gm11677 T A 11: 111,616,264 (GRCm39) noncoding transcript Het
Gm7137 A T 10: 77,623,905 (GRCm39) probably benign Het
Hnrnpr A G 4: 136,063,648 (GRCm39) T252A possibly damaging Het
Hyal5 T C 6: 24,891,484 (GRCm39) F433L probably damaging Het
Kcnmb4 T A 10: 116,299,833 (GRCm39) probably benign Het
Meltf A G 16: 31,706,421 (GRCm39) probably null Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Muc6 T C 7: 141,230,491 (GRCm39) D1213G probably benign Het
Ncam1 A C 9: 49,709,995 (GRCm39) F12C probably benign Het
Nfxl1 A T 5: 72,713,582 (GRCm39) D120E probably benign Het
Nrg1 T C 8: 32,314,587 (GRCm39) Q142R probably damaging Het
Or10c1 A G 17: 37,522,558 (GRCm39) L62P probably damaging Het
Or1j18 T G 2: 36,625,011 (GRCm39) L226R possibly damaging Het
Or2h15 G A 17: 38,441,432 (GRCm39) S217F probably damaging Het
Or56a4 T C 7: 104,806,355 (GRCm39) N178S probably damaging Het
Or5k16 T C 16: 58,736,435 (GRCm39) T190A probably benign Het
Or8c10 C A 9: 38,279,220 (GRCm39) T116K probably damaging Het
Or8g30 C A 9: 39,229,960 (GRCm39) V317L probably benign Het
Or9s18 C A 13: 65,300,743 (GRCm39) A235D possibly damaging Het
Padi2 G T 4: 140,659,432 (GRCm39) V246L probably benign Het
Pitpnm1 A G 19: 4,162,758 (GRCm39) N1117S probably benign Het
Plch1 G T 3: 63,630,202 (GRCm39) T534K probably damaging Het
Poc1a G T 9: 106,227,012 (GRCm39) probably benign Het
Polr3c T C 3: 96,630,833 (GRCm39) I196V probably benign Het
Prph A T 15: 98,953,113 (GRCm39) probably benign Het
Ptprg C A 14: 12,037,387 (GRCm38) T189K possibly damaging Het
R3hcc1 A T 14: 69,941,463 (GRCm39) I183N probably damaging Het
Rundc1 T C 11: 101,316,363 (GRCm39) L145P probably benign Het
Slc26a3 A G 12: 31,520,964 (GRCm39) K723E possibly damaging Het
Slc38a3 T C 9: 107,536,390 (GRCm39) E2G possibly damaging Het
Slc9a5 G T 8: 106,082,490 (GRCm39) V252L probably benign Het
Smim26 C T 2: 144,437,043 (GRCm39) T64M probably benign Het
Socs4 C T 14: 47,527,589 (GRCm39) R175* probably null Het
Srebf2 T C 15: 82,066,251 (GRCm39) S600P probably damaging Het
Tas2r107 A T 6: 131,636,705 (GRCm39) S115T probably damaging Het
Tenm2 T C 11: 36,097,907 (GRCm39) D447G possibly damaging Het
Thbs2 T A 17: 14,896,591 (GRCm39) D766V probably damaging Het
Tinagl1 A G 4: 130,061,250 (GRCm39) V300A probably benign Het
Tle6 T A 10: 81,430,072 (GRCm39) N332I possibly damaging Het
Tle6 C A 10: 81,431,791 (GRCm39) W151L probably damaging Het
Tnfrsf13c C T 15: 82,108,408 (GRCm39) V36M probably damaging Het
Tns2 T C 15: 102,016,295 (GRCm39) I211T possibly damaging Het
Trp63 A G 16: 25,701,344 (GRCm39) N379D probably damaging Het
Trpc2 T C 7: 101,738,316 (GRCm39) W433R probably damaging Het
Tyw1 T A 5: 130,305,927 (GRCm39) L350Q probably benign Het
Usf3 T C 16: 44,033,070 (GRCm39) L76P probably damaging Het
Vmn2r79 T C 7: 86,651,423 (GRCm39) L274P probably damaging Het
Other mutations in Pgghg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Pgghg APN 7 140,525,264 (GRCm39) critical splice donor site probably null
IGL00848:Pgghg APN 7 140,522,317 (GRCm39) missense probably damaging 1.00
IGL01903:Pgghg APN 7 140,526,741 (GRCm39) missense probably benign 0.03
IGL02060:Pgghg APN 7 140,526,546 (GRCm39) missense probably benign 0.30
IGL02475:Pgghg APN 7 140,525,633 (GRCm39) missense
IGL02519:Pgghg APN 7 140,524,894 (GRCm39) missense possibly damaging 0.94
IGL02612:Pgghg APN 7 140,526,251 (GRCm39) missense probably damaging 1.00
R0689:Pgghg UTSW 7 140,523,191 (GRCm39) missense probably benign 0.08
R1696:Pgghg UTSW 7 140,525,224 (GRCm39) missense possibly damaging 0.55
R1960:Pgghg UTSW 7 140,523,260 (GRCm39) missense probably benign
R2110:Pgghg UTSW 7 140,523,453 (GRCm39) missense possibly damaging 0.72
R3809:Pgghg UTSW 7 140,525,208 (GRCm39) missense probably damaging 1.00
R3890:Pgghg UTSW 7 140,525,616 (GRCm39) missense probably damaging 0.99
R3891:Pgghg UTSW 7 140,525,616 (GRCm39) missense probably damaging 0.99
R4622:Pgghg UTSW 7 140,521,409 (GRCm39) splice site probably null
R5009:Pgghg UTSW 7 140,523,303 (GRCm39) missense probably benign
R5215:Pgghg UTSW 7 140,526,477 (GRCm39) missense possibly damaging 0.64
R6122:Pgghg UTSW 7 140,523,308 (GRCm39) missense possibly damaging 0.87
R6269:Pgghg UTSW 7 140,526,097 (GRCm39) missense probably damaging 0.97
R6301:Pgghg UTSW 7 140,526,289 (GRCm39) missense probably damaging 1.00
R6562:Pgghg UTSW 7 140,526,506 (GRCm39) missense probably benign 0.01
R7054:Pgghg UTSW 7 140,524,631 (GRCm39) missense probably benign 0.15
R7241:Pgghg UTSW 7 140,525,633 (GRCm39) missense
R7320:Pgghg UTSW 7 140,522,953 (GRCm39) missense probably benign 0.44
R7486:Pgghg UTSW 7 140,522,393 (GRCm39) missense probably benign
R7665:Pgghg UTSW 7 140,525,382 (GRCm39) missense probably damaging 1.00
R8859:Pgghg UTSW 7 140,525,367 (GRCm39) critical splice acceptor site probably null
R9018:Pgghg UTSW 7 140,524,579 (GRCm39) missense probably benign 0.05
R9647:Pgghg UTSW 7 140,526,743 (GRCm39) missense possibly damaging 0.63
Predicted Primers PCR Primer
(F):5'- TGGGCCACTGTAACGAACTC -3'
(R):5'- CCACACAGGCCTCATTTTGG -3'

Sequencing Primer
(F):5'- GAACTCATACCTAGGTACACGTGTG -3'
(R):5'- TACTGGAGGCTGAGCTCCAAC -3'
Posted On 2016-06-06