Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02469:Hyal2'

294652

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hyal2

Ensembl Gene

ENSMUSG00000010047

Gene Name

hyaluronoglucosaminidase 2

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02469

Quality Score

Status

Chromosome

Chromosomal Location

107445144-107449978 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107449411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 389 (L389P)

Ref Sequence

ENSEMBL: ENSMUSP00000141280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010191] [ENSMUST00000010195] [ENSMUST00000112387] [ENSMUST00000123005] [ENSMUST00000144392] [ENSMUST00000195752] [ENSMUST00000195681] [ENSMUST00000193747] [ENSMUST00000192887] [ENSMUST00000194794]

AlphaFold

O35632

Predicted Effect

probably damaging
Transcript: ENSMUST00000010191
AA Change: L389P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000010191
Gene: ENSMUSG00000010047
AA Change: L389P

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: ENSMUST00000180865

Predicted Effect

probably damaging
Transcript: ENSMUST00000195752
AA Change: L389P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141280
Gene: ENSMUSG00000010047
AA Change: L389P

Domain	Start	End	E-Value	Type
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: ENSMUST00000181099

Predicted Effect

probably benign
Transcript: ENSMUST00000195681

SMART Domains

Protein: ENSMUSP00000141820
Gene: ENSMUSG00000010047

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Glyco_hydro_56	25	342	5.4e-133	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000192887

SMART Domains

Protein: ENSMUSP00000142207
Gene: ENSMUSG00000010047

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Glyco_hydro_56	25	154	8.8e-50	PFAM

Coding Region Coverage

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,645,074 (GRCm39)	Q975L	probably damaging	Het
Acad10	T	C	5: 121,783,522 (GRCm39)	Y301C	probably damaging	Het
Akr7a5	T	A	4: 139,041,492 (GRCm39)	S134T	probably damaging	Het
Aldh4a1	C	T	4: 139,375,472 (GRCm39)	T527I	probably damaging	Het
Atf2	A	G	2: 73,676,676 (GRCm39)	V146A	probably damaging	Het
C2cd6	A	T	1: 59,036,640 (GRCm39)		probably benign	Het
Caml	T	C	13: 55,776,390 (GRCm39)	S210P	probably damaging	Het
Casp1	A	C	9: 5,303,105 (GRCm39)	R186S	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdhr1	T	A	14: 36,807,557 (GRCm39)	Q361L	possibly damaging	Het
Chrna3	T	A	9: 54,923,290 (GRCm39)	T173S	probably benign	Het
Commd6	A	G	14: 101,874,463 (GRCm39)	V47A	probably damaging	Het
Dmrtc2	T	C	7: 24,572,138 (GRCm39)		probably benign	Het
Dock3	T	C	9: 106,863,215 (GRCm39)	D721G	probably damaging	Het
Dpp10	T	C	1: 123,339,532 (GRCm39)	S332G	probably benign	Het
Dst	A	G	1: 34,227,909 (GRCm39)	E1834G	probably damaging	Het
Espl1	T	A	15: 102,222,460 (GRCm39)	L1034Q	probably damaging	Het
Gtf2ird2	C	T	5: 134,220,088 (GRCm39)	T22M	probably damaging	Het
Lipa	T	C	19: 34,471,435 (GRCm39)	D380G	probably damaging	Het
Marchf5	T	G	19: 37,194,674 (GRCm39)	W111G	probably damaging	Het
Or8h7	T	C	2: 86,721,499 (GRCm39)	T7A	possibly damaging	Het
Pfkfb2	A	T	1: 130,627,774 (GRCm39)	I391N	probably damaging	Het
Sec31a	T	C	5: 100,533,114 (GRCm39)	S544G	probably benign	Het
Slc26a9	A	G	1: 131,690,674 (GRCm39)	K530E	probably damaging	Het
Spaca3	G	A	11: 80,754,911 (GRCm39)		probably null	Het
Syne3	T	C	12: 104,920,565 (GRCm39)	S544G	probably benign	Het
Tctn3	T	C	19: 40,585,967 (GRCm39)	E526G	probably benign	Het
Tll1	A	T	8: 64,523,314 (GRCm39)	I466K	probably benign	Het
Ttbk1	A	G	17: 46,781,556 (GRCm39)	V399A	possibly damaging	Het
Vmn1r47	T	C	6: 89,999,435 (GRCm39)	L189P	probably damaging	Het
Vmn2r100	T	A	17: 19,751,547 (GRCm39)	L530*	probably null	Het
Yipf3	T	C	17: 46,561,384 (GRCm39)		probably null	Het

Other mutations in Hyal2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2015-04-16