Incidental Mutation 'R5922:Hyal2'
ID 461637
Institutional Source Beutler Lab
Gene Symbol Hyal2
Ensembl Gene ENSMUSG00000010047
Gene Name hyaluronoglucosaminidase 2
Synonyms
MMRRC Submission 043240-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5922 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 107445144-107449978 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107448106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 253 (Y253C)
Ref Sequence ENSEMBL: ENSMUSP00000141280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010191] [ENSMUST00000010198] [ENSMUST00000192887] [ENSMUST00000193747] [ENSMUST00000195681] [ENSMUST00000195752] [ENSMUST00000194794]
AlphaFold O35632
Predicted Effect probably damaging
Transcript: ENSMUST00000010191
AA Change: Y253C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000010191
Gene: ENSMUSG00000010047
AA Change: Y253C

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Glyco_hydro_56 29 362 9.6e-140 PFAM
EGF 364 439 4.26e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000010198
SMART Domains Protein: ENSMUSP00000010198
Gene: ENSMUSG00000010054

DomainStartEndE-ValueType
Pfam:TUSC2 1 109 9.2e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162027
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180865
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181099
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192051
Predicted Effect probably benign
Transcript: ENSMUST00000192887
SMART Domains Protein: ENSMUSP00000142207
Gene: ENSMUSG00000010047

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Glyco_hydro_56 25 82 5.6e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000193747
AA Change: Y253C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142141
Gene: ENSMUSG00000010047
AA Change: Y253C

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Glyco_hydro_56 25 342 5.4e-133 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000195681
AA Change: Y253C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141820
Gene: ENSMUSG00000010047
AA Change: Y253C

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Glyco_hydro_56 25 325 3.8e-118 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000195752
AA Change: Y253C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141280
Gene: ENSMUSG00000010047
AA Change: Y253C

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Glyco_hydro_56 25 363 1.1e-144 PFAM
EGF 364 439 4.26e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195667
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194628
Predicted Effect probably benign
Transcript: ENSMUST00000194794
SMART Domains Protein: ENSMUSP00000142019
Gene: ENSMUSG00000010047

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Glyco_hydro_56 25 154 8.8e-50 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a weak acid-active hyaluronidase. The encoded protein is similar in structure to other more active hyaluronidases. Hyaluronidases degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan and fragments of hyaluronan are thought to be involved in cell proliferation, migration and differentiation. Although it was previously thought to be a lysosomal hyaluronidase that is active at a pH below 4, the encoded protein is likely a GPI-anchored cell surface protein. This hyaluronidase serves as a receptor for the oncogenic virus Jaagsiekte sheep retrovirus. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. This gene encodes two alternatively spliced transcript variants which differ only in the 5' UTR.[provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality, poor survival, craniofacial defects, and mild anemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl7a G T 4: 56,743,827 (GRCm39) R118L probably damaging Het
Atr A G 9: 95,785,735 (GRCm39) D1429G probably benign Het
Brinp2 A T 1: 158,076,925 (GRCm39) V390D possibly damaging Het
Cpn1 T C 19: 43,974,532 (GRCm39) S66G probably damaging Het
Dnal1 C A 12: 84,173,746 (GRCm39) L55M probably damaging Het
Dus2 G A 8: 106,780,037 (GRCm39) R453Q possibly damaging Het
Efcab5 T C 11: 77,079,570 (GRCm39) T59A probably benign Het
Elmo1 A G 13: 20,789,339 (GRCm39) D685G probably damaging Het
Ern1 T C 11: 106,312,556 (GRCm39) E275G probably damaging Het
Etnk2 A G 1: 133,291,623 (GRCm39) probably null Het
Fign T C 2: 63,809,404 (GRCm39) D622G probably damaging Het
Gjb2 A G 14: 57,337,755 (GRCm39) M151T probably benign Het
Heatr9 C T 11: 83,403,193 (GRCm39) probably null Het
Herpud2 G A 9: 25,020,280 (GRCm39) L359F probably benign Het
Hpx C T 7: 105,244,831 (GRCm39) R118H probably damaging Het
Igkv14-130 T C 6: 67,768,206 (GRCm39) C22R probably damaging Het
Ms4a6b T A 19: 11,497,743 (GRCm39) I14N possibly damaging Het
Myb T A 10: 21,028,826 (GRCm39) I91F probably damaging Het
Myh6 C T 14: 55,183,931 (GRCm39) D1668N probably damaging Het
Noc2l C T 4: 156,325,770 (GRCm39) Q182* probably null Het
Nsd1 A G 13: 55,395,288 (GRCm39) N1066S probably benign Het
Nup98 A G 7: 101,803,224 (GRCm39) Y659H probably damaging Het
Nutm1 T C 2: 112,079,659 (GRCm39) E752G possibly damaging Het
Paqr6 G T 3: 88,273,544 (GRCm39) A154S probably benign Het
Pdlim7 G T 13: 55,656,768 (GRCm39) T62K probably damaging Het
Pibf1 A G 14: 99,374,524 (GRCm39) D321G probably benign Het
Plrg1 T A 3: 82,964,155 (GRCm39) N29K possibly damaging Het
Scimp A C 11: 70,691,642 (GRCm39) probably null Het
Sec16a T C 2: 26,305,651 (GRCm39) N2251S probably benign Het
Sec61a2 A T 2: 5,879,134 (GRCm39) D291E possibly damaging Het
Serpina3i A G 12: 104,232,766 (GRCm39) K224E probably benign Het
Spz1 A T 13: 92,712,106 (GRCm39) D123E possibly damaging Het
St14 A T 9: 31,041,200 (GRCm39) probably benign Het
Ush1c A T 7: 45,853,552 (GRCm39) probably null Het
Usp54 T C 14: 20,602,139 (GRCm39) probably null Het
Zfhx3 C T 8: 109,673,330 (GRCm39) T1460M probably damaging Het
Zfp712 G T 13: 67,189,668 (GRCm39) N286K probably benign Het
Other mutations in Hyal2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Hyal2 APN 9 107,447,604 (GRCm39) missense probably damaging 1.00
IGL00337:Hyal2 APN 9 107,449,371 (GRCm39) missense probably damaging 1.00
IGL01834:Hyal2 APN 9 107,448,105 (GRCm39) missense probably damaging 1.00
IGL02469:Hyal2 APN 9 107,449,411 (GRCm39) missense probably damaging 1.00
R0505:Hyal2 UTSW 9 107,449,270 (GRCm39) missense probably benign 0.28
R1078:Hyal2 UTSW 9 107,449,445 (GRCm39) missense probably benign
R1543:Hyal2 UTSW 9 107,447,386 (GRCm39) missense probably damaging 0.98
R1858:Hyal2 UTSW 9 107,449,537 (GRCm39) missense probably benign 0.01
R1974:Hyal2 UTSW 9 107,449,371 (GRCm39) missense probably damaging 1.00
R3842:Hyal2 UTSW 9 107,449,320 (GRCm39) missense probably damaging 0.99
R4400:Hyal2 UTSW 9 107,448,052 (GRCm39) missense probably damaging 1.00
R5111:Hyal2 UTSW 9 107,448,310 (GRCm39) missense probably benign 0.00
R6026:Hyal2 UTSW 9 107,449,398 (GRCm39) missense probably benign 0.00
R6266:Hyal2 UTSW 9 107,447,914 (GRCm39) missense probably benign 0.08
R9563:Hyal2 UTSW 9 107,447,844 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AACACTCTCCGTTACGTCAAGG -3'
(R):5'- ACACAAGCATGCAGTGGCTC -3'

Sequencing Primer
(F):5'- GTTACGTCAAGGCAGTCAGACC -3'
(R):5'- ATGCAGTGGCTCCCGGAG -3'
Posted On 2017-02-28