Incidental Mutation 'R4400:Hyal2'
ID 326594
Institutional Source Beutler Lab
Gene Symbol Hyal2
Ensembl Gene ENSMUSG00000010047
Gene Name hyaluronoglucosaminidase 2
Synonyms
MMRRC Submission 041131-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4400 (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 107448052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 235 (N235S)
Ref Sequence ENSEMBL: ENSMUSP00000141280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010191] [ENSMUST00000010198] [ENSMUST00000193747] [ENSMUST00000195681] [ENSMUST00000195752] [ENSMUST00000194794] [ENSMUST00000192887]
AlphaFold O35632
Predicted Effect probably damaging
Transcript: ENSMUST00000010191
AA Change: N235S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000010191
Gene: ENSMUSG00000010047
AA Change: N235S

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 damaging
Transcript: ENSMUST00000193747
AA Change: N235S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142141
Gene: ENSMUSG00000010047
AA Change: N235S

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: N235S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141820
Gene: ENSMUSG00000010047
AA Change: N235S

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: N235S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141280
Gene: ENSMUSG00000010047
AA Change: N235S

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
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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.3%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp4b A G 8: 13,438,810 (GRCm39) F189L probably damaging Het
Atp8a1 A T 5: 67,922,221 (GRCm39) Y372N probably benign Het
Bves T C 10: 45,245,389 (GRCm39) V354A probably benign Het
Cd79b A T 11: 106,202,836 (GRCm39) Y195* probably null Het
Cog6 A C 3: 52,920,362 (GRCm39) D131E probably benign Het
Elp3 C T 14: 65,785,539 (GRCm39) E421K possibly damaging Het
Fbxw28 A T 9: 109,157,378 (GRCm39) F237Y probably damaging Het
Fezf1 T C 6: 23,247,709 (GRCm39) N122S probably benign Het
Galnt2 A G 8: 125,051,042 (GRCm39) K157E probably damaging Het
Git2 T C 5: 114,871,970 (GRCm39) E141G possibly damaging Het
Gm26888 T C 11: 119,044,853 (GRCm39) silent Het
Gnrhr T C 5: 86,330,108 (GRCm39) probably null Het
Hoxd13 A T 2: 74,500,359 (GRCm39) D300V probably damaging Het
Hspg2 G A 4: 137,275,433 (GRCm39) A2748T probably benign Het
Itgam T G 7: 127,680,830 (GRCm39) L253R probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Matr3 A T 18: 35,716,969 (GRCm39) K591N possibly damaging Het
Mep1a T A 17: 43,785,897 (GRCm39) I731F possibly damaging Het
Mrtfa G A 15: 80,905,124 (GRCm39) Q103* probably null Het
Muc5b A G 7: 141,415,124 (GRCm39) D2690G possibly damaging Het
Nlrc5 A G 8: 95,220,981 (GRCm39) Q1140R probably benign Het
Or14c39 A G 7: 86,343,798 (GRCm39) I45V probably benign Het
Or5ac23 C T 16: 59,148,961 (GRCm39) V304I probably benign Het
Or6b6 A G 7: 106,571,209 (GRCm39) L114P probably damaging Het
Plcl1 T C 1: 55,754,736 (GRCm39) F1028L probably damaging Het
Plpp2 A G 10: 79,363,327 (GRCm39) V106A possibly damaging Het
Prpf8 A G 11: 75,381,528 (GRCm39) T255A possibly damaging Het
Shoc2 A G 19: 54,019,660 (GRCm39) I568V probably benign Het
Spopl C T 2: 23,407,957 (GRCm39) V241M probably damaging Het
Ssrp1 A T 2: 84,868,285 (GRCm39) D9V probably damaging Het
Strn3 A T 12: 51,694,883 (GRCm39) D293E possibly damaging Het
Tbx3 G T 5: 119,818,636 (GRCm39) D404Y probably damaging Het
Tdrd7 T C 4: 46,005,540 (GRCm39) S416P possibly damaging Het
Trim60 G T 8: 65,453,864 (GRCm39) Y128* probably null Het
Tspoap1 T C 11: 87,666,429 (GRCm39) S947P probably damaging Het
Ttn A T 2: 76,612,739 (GRCm39) S17113R probably damaging Het
Ubqln1 T A 13: 58,341,202 (GRCm39) N183I probably damaging Het
Ubr4 A G 4: 139,189,167 (GRCm39) N3917D possibly damaging Het
Ucp2 A G 7: 100,148,557 (GRCm39) *310W probably null Het
Wdr76 A G 2: 121,359,314 (GRCm39) M218V probably damaging Het
Zranb3 A C 1: 127,884,392 (GRCm39) L998R possibly damaging Het
Zxdc G A 6: 90,346,792 (GRCm39) G51E probably damaging 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
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'- TACGAGTTTGAGTTCGCCGC -3'
(R):5'- AACACGTACCTGGCTCAGTC -3'

Sequencing Primer
(F):5'- CCGCTCGGCAGTTCATGTTG -3'
(R):5'- TCAGTCCCGTGAGTCCTCG -3'
Posted On 2015-07-07