Incidental Mutation 'R3842:Hyal2'
ID 277208
Institutional Source Beutler Lab
Gene Symbol Hyal2
Ensembl Gene ENSMUSG00000010047
Gene Name hyaluronoglucosaminidase 2
Synonyms
MMRRC Submission 040782-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3842 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 107445144-107449978 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107449320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 359 (S359P)
Ref Sequence ENSEMBL: ENSMUSP00000141280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010191] [ENSMUST00000010195] [ENSMUST00000112387] [ENSMUST00000123005] [ENSMUST00000144392] [ENSMUST00000195752] [ENSMUST00000192887] [ENSMUST00000194794] [ENSMUST00000195681] [ENSMUST00000193747]
AlphaFold O35632
Predicted Effect probably damaging
Transcript: ENSMUST00000010191
AA Change: S359P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000010191
Gene: ENSMUSG00000010047
AA Change: S359P

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: ENSMUST00000010195
SMART Domains Protein: ENSMUSP00000010195
Gene: ENSMUSG00000010051

DomainStartEndE-ValueType
low complexity region 33 46 N/A INTRINSIC
Pfam:Glyco_hydro_56 53 383 5.7e-134 PFAM
EGF 385 458 1.4e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112387
SMART Domains Protein: ENSMUSP00000108006
Gene: ENSMUSG00000010051

DomainStartEndE-ValueType
low complexity region 33 46 N/A INTRINSIC
Pfam:Glyco_hydro_56 50 384 7e-153 PFAM
Blast:EGF 385 454 1e-42 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000123005
SMART Domains Protein: ENSMUSP00000122601
Gene: ENSMUSG00000010051

DomainStartEndE-ValueType
Pfam:Glyco_hydro_56 1 104 6.8e-37 PFAM
EGF 105 178 1.4e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144392
SMART Domains Protein: ENSMUSP00000120599
Gene: ENSMUSG00000010051

DomainStartEndE-ValueType
low complexity region 33 46 N/A INTRINSIC
Pfam:Glyco_hydro_56 50 330 1.8e-128 PFAM
Pfam:Glyco_hydro_56 325 354 2.6e-8 PFAM
EGF 355 428 1.4e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162027
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195667
Predicted Effect probably damaging
Transcript: ENSMUST00000195752
AA Change: S359P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141280
Gene: ENSMUSG00000010047
AA Change: S359P

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: ENSMUST00000180865
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181099
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 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
Predicted Effect probably benign
Transcript: ENSMUST00000195681
SMART Domains Protein: ENSMUSP00000141820
Gene: ENSMUSG00000010047

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Glyco_hydro_56 25 325 3.8e-118 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193747
SMART Domains Protein: ENSMUSP00000142141
Gene: ENSMUSG00000010047

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Glyco_hydro_56 25 342 5.4e-133 PFAM
Meta Mutation Damage Score 0.7602 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (37/37)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox2 C T 14: 8,251,543 (GRCm38) R318H probably damaging Het
Adamts16 T C 13: 70,887,010 (GRCm39) Y958C possibly damaging Het
Apol7e A G 15: 77,601,789 (GRCm39) E129G probably damaging Het
Bmp2k A G 5: 97,235,010 (GRCm39) probably benign Het
Camk2g T C 14: 20,814,966 (GRCm39) H26R probably damaging Het
Cpn2 A G 16: 30,079,336 (GRCm39) S122P probably damaging Het
Dhcr24 G T 4: 106,443,002 (GRCm39) G346C probably damaging Het
Egf G A 3: 129,491,442 (GRCm39) R351* probably null Het
Exosc10 T A 4: 148,648,322 (GRCm39) Y260* probably null Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fam83h C T 15: 75,874,499 (GRCm39) R946K probably benign Het
Fbxo30 A G 10: 11,165,856 (GRCm39) S193G probably damaging Het
Grik3 T C 4: 125,587,747 (GRCm39) probably benign Het
Gtf3c6 A T 10: 40,130,317 (GRCm39) probably null Het
Hivep1 T C 13: 42,311,203 (GRCm39) S1148P probably benign Het
Hmgb2 T A 8: 57,966,388 (GRCm39) S121T probably benign Het
Itgbl1 A G 14: 124,077,977 (GRCm39) T156A possibly damaging Het
Lrrk2 C A 15: 91,640,119 (GRCm39) Q1555K probably benign Het
Myom1 T C 17: 71,352,619 (GRCm39) V349A probably damaging Het
Naa40 A T 19: 7,207,174 (GRCm39) probably benign Het
Ncam2 A G 16: 81,231,698 (GRCm39) Y54C probably damaging Het
Nemf C T 12: 69,378,723 (GRCm39) S533N probably damaging Het
Nkain1 T A 4: 130,537,296 (GRCm38) I80F probably damaging Het
Or10ak12 A G 4: 118,666,452 (GRCm39) V203A probably damaging Het
Or2ag13 G A 7: 106,473,302 (GRCm39) T50I probably benign Het
Or9k2 G A 10: 129,998,770 (GRCm39) R142C probably benign Het
Pde3b T C 7: 114,126,102 (GRCm39) S779P probably damaging Het
Prkar2a A G 9: 108,605,467 (GRCm39) Y175C probably damaging Het
Slc44a5 T C 3: 153,967,031 (GRCm39) probably benign Het
Smgc T A 15: 91,744,460 (GRCm39) probably benign Het
Tasp1 T A 2: 139,793,421 (GRCm39) S252C probably damaging Het
Tgfbrap1 A T 1: 43,098,314 (GRCm39) Y489N probably damaging Het
Topors C T 4: 40,262,123 (GRCm39) R387H probably benign Het
Ttn A G 2: 76,619,963 (GRCm39) S15902P probably damaging Het
Ttn T C 2: 76,680,647 (GRCm39) probably null 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
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
R5922:Hyal2 UTSW 9 107,448,106 (GRCm39) missense probably damaging 1.00
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'- TAAAGGCTCGGGAACTCTGTG -3'
(R):5'- ACTGGCAGCGAAAGTGCTTC -3'

Sequencing Primer
(F):5'- TAAATATGCCAGGGATGTGCCTC -3'
(R):5'- CAGGTAGTTGAGGTCGGCTTC -3'
Posted On 2015-04-06