Incidental Mutation 'R5111:Hyal2'
ID 393862
Institutional Source Beutler Lab
Gene Symbol Hyal2
Ensembl Gene ENSMUSG00000010047
Gene Name hyaluronoglucosaminidase 2
Synonyms
MMRRC Submission 042699-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5111 (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 107448310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 321 (V321A)
Ref Sequence ENSEMBL: ENSMUSP00000141820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010191] [ENSMUST00000010198] [ENSMUST00000195681] [ENSMUST00000192887] [ENSMUST00000193747] [ENSMUST00000195752] [ENSMUST00000194794]
AlphaFold O35632
Predicted Effect probably benign
Transcript: ENSMUST00000010191
SMART Domains Protein: ENSMUSP00000010191
Gene: ENSMUSG00000010047

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: ENSMUST00000195681
AA Change: V321A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000141820
Gene: ENSMUSG00000010047
AA Change: V321A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Glyco_hydro_56 25 325 3.8e-118 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194628
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195667
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: 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
Predicted Effect probably benign
Transcript: ENSMUST00000195752
SMART Domains Protein: ENSMUSP00000141280
Gene: ENSMUSG00000010047

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 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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.0%
Validation Efficiency 100% (56/56)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17c A T 7: 83,800,646 (GRCm39) L136* probably null Het
Ankrd17 A T 5: 90,390,858 (GRCm39) S2271T possibly damaging Het
Arhgef10 A G 8: 14,982,408 (GRCm39) D179G probably benign Het
Bcan G T 3: 87,901,514 (GRCm39) S396Y probably damaging Het
Btbd3 T A 2: 138,120,829 (GRCm39) M1K probably null Het
Capns1 A G 7: 29,891,944 (GRCm39) V106A probably benign Het
Ccnjl A G 11: 43,447,544 (GRCm39) T76A probably benign Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Col6a6 C T 9: 105,586,673 (GRCm39) V1783I possibly damaging Het
Crisp3 T C 17: 40,536,695 (GRCm39) T207A possibly damaging Het
Crxos G A 7: 15,630,142 (GRCm39) probably benign Het
Csf3r T C 4: 125,923,861 (GRCm39) probably null Het
Cyp2a12 A G 7: 26,736,046 (GRCm39) Y485C possibly damaging Het
Echdc2 A T 4: 108,026,994 (GRCm39) probably benign Het
Elp3 A C 14: 65,797,685 (GRCm39) Y329D probably damaging Het
Fbxw16 T C 9: 109,265,796 (GRCm39) D341G probably benign Het
H2-Ab1 T A 17: 34,486,456 (GRCm39) S172T probably damaging Het
Ighv6-3 A T 12: 114,355,394 (GRCm39) S98R probably benign Het
Kank3 A G 17: 34,037,155 (GRCm39) E153G possibly damaging Het
Klrb1c C T 6: 128,762,968 (GRCm39) R83H probably benign Het
Krtap16-1 T C 11: 99,877,378 (GRCm39) K9E possibly damaging Het
Liph G A 16: 21,802,820 (GRCm39) S83F probably damaging Het
Lnpep A G 17: 17,798,872 (GRCm39) I261T possibly damaging Het
Mdm2 A T 10: 117,527,126 (GRCm39) V273D possibly damaging Het
Mterf1a A G 5: 3,941,860 (GRCm39) S3P probably benign Het
Myt1 A G 2: 181,437,678 (GRCm39) T172A probably benign Het
Nufip2 T A 11: 77,582,669 (GRCm39) S194R probably benign Het
Nusap1 T A 2: 119,460,837 (GRCm39) L110* probably null Het
Palb2 A T 7: 121,716,528 (GRCm39) C488* probably null Het
Pcdhac1 A T 18: 37,224,558 (GRCm39) N457I probably damaging Het
Per1 A T 11: 68,991,612 (GRCm39) S49C probably damaging Het
Ppargc1b A T 18: 61,443,558 (GRCm39) I535N probably damaging Het
Rb1cc1 T C 1: 6,284,858 (GRCm39) probably benign Het
Rpap1 A T 2: 119,601,728 (GRCm39) L744Q probably damaging Het
Sdk1 A G 5: 142,113,600 (GRCm39) E1549G probably damaging Het
Tnr C T 1: 159,713,798 (GRCm39) T742I probably benign Het
Trp53bp1 A T 2: 121,041,868 (GRCm39) H1229Q probably damaging Het
Unc80 A G 1: 66,567,154 (GRCm39) H920R possibly damaging Het
Urb1 A C 16: 90,548,905 (GRCm39) S2268A probably benign Het
Usp32 A T 11: 84,968,157 (GRCm39) Y169N possibly damaging Het
Vmn2r18 A T 5: 151,485,913 (GRCm39) M527K possibly damaging Het
Vmn2r93 A T 17: 18,546,326 (GRCm39) I733F probably damaging Het
Vstm2l A G 2: 157,777,389 (GRCm39) D89G probably damaging Het
Zdhhc8 G T 16: 18,044,612 (GRCm39) Q303K probably benign Het
Zfand2a A G 5: 139,459,509 (GRCm39) V159A probably benign Het
Zswim6 A G 13: 107,865,170 (GRCm39) noncoding transcript 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
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'- CGCAACTTTGTCAGTTTCCG -3'
(R):5'- CTTAGTCTCCAAGGCCAAGAG -3'

Sequencing Primer
(F):5'- AACTTTGTCAGTTTCCGTGTTCG -3'
(R):5'- GTCAAAGGTTACACATTCTGACC -3'
Posted On 2016-06-15