Mutagenetix > Incidental Mutation

Incidental Mutation 'R1078:Hyal2'

85736

Institutional Source

Beutler Lab

Gene Symbol

Hyal2

Ensembl Gene

ENSMUSG00000010047

Gene Name

hyaluronoglucosaminidase 2

Synonyms

MMRRC Submission

039164-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107567945-107572779 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107572246 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 400 (H400Q)

Ref Sequence

ENSEMBL: ENSMUSP00000141280 (fasta)

Gene Model

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

AlphaFold

O35632

Predicted Effect

probably benign
Transcript: ENSMUST00000010191
AA Change: H400Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000010191
Gene: ENSMUSG00000010047
AA Change: H400Q

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

noncoding transcript
Transcript: ENSMUST00000181099

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: 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: 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195667

Predicted Effect

probably benign
Transcript: ENSMUST00000195752
AA Change: H400Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141280
Gene: ENSMUSG00000010047
AA Change: H400Q

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

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

Meta Mutation Damage Score

0.0922

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.4%
20x: 94.4%

Validation Efficiency

96% (53/55)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,611,762	I358S	probably benign	Het
9130230L23Rik	T	C	5: 65,988,355	T138A	unknown	Het
Abi3bp	T	C	16: 56,654,081		probably null	Het
Alpk3	A	T	7: 81,078,600	M493L	probably benign	Het
Bace2	C	T	16: 97,356,860	A20V	unknown	Het
Bms1	T	C	6: 118,405,221	D452G	probably benign	Het
Ccdc187	T	C	2: 26,294,377	T3A	probably damaging	Het
Ctu2	T	C	8: 122,481,499	V95A	possibly damaging	Het
Cyp2a5	A	G	7: 26,835,541	K60E	probably benign	Het
Cyp4f13	T	C	17: 32,925,568	H318R	probably damaging	Het
Dlgap5	G	A	14: 47,399,566	T485M	probably damaging	Het
Dsp	C	T	13: 38,183,106		probably benign	Het
Ell2	T	C	13: 75,746,419		probably benign	Het
Eml2	A	T	7: 19,179,762	Y168F	probably benign	Het
Ep400	C	T	5: 110,735,522		probably benign	Het
Ercc4	C	A	16: 13,130,197	A336D	probably benign	Het
Fam189a2	T	A	19: 23,973,575	R547S	probably benign	Het
Fat4	T	C	3: 38,983,086	L3629S	probably benign	Het
Gabbr2	C	T	4: 46,664,833	R925H	probably damaging	Het
Gfi1b	A	T	2: 28,613,865	W108R	probably damaging	Het
Gtse1	C	T	15: 85,862,307	P108L	probably damaging	Het
Hfm1	A	T	5: 106,878,830	F140I	probably damaging	Het
Igfn1	A	G	1: 135,974,847	Y371H	probably damaging	Het
Iltifb	T	G	10: 118,290,151	*180C	probably null	Het
Kdm2b	T	C	5: 122,961,541	T118A	possibly damaging	Het
Lama5	A	T	2: 180,179,764		probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lmo7	C	T	14: 101,920,474		probably benign	Het
Lrrc37a	G	T	11: 103,497,631	P2323T	unknown	Het
Lrrc38	A	G	4: 143,350,518	Y117C	probably benign	Het
Myo1e	T	C	9: 70,383,999	V1024A	probably benign	Het
Myrfl	T	C	10: 116,776,732	N904S	possibly damaging	Het
Olfr1015	T	C	2: 85,786,093	V194A	possibly damaging	Het
Olfr103	T	A	17: 37,337,026	I69F	probably damaging	Het
Olfr1297	T	C	2: 111,621,345	H243R	probably damaging	Het
Pld4	A	T	12: 112,763,442	I53F	probably benign	Het
Plekhg4	T	A	8: 105,381,677	C1117*	probably null	Het
Prss39	G	A	1: 34,502,086	E224K	probably benign	Het
Psme1	G	T	14: 55,580,650	G149V	probably damaging	Het
Soat2	T	A	15: 102,153,138		probably null	Het
Stab2	C	T	10: 86,907,133		probably null	Het
Tcf7l2	A	G	19: 55,743,195	T127A	probably benign	Het
Tcp1	T	C	17: 12,923,204		probably benign	Het
Thbs4	G	A	13: 92,762,926		probably benign	Het
Tmf1	T	C	6: 97,173,300	D482G	probably damaging	Het
Trim66	G	T	7: 109,472,319	P591H	probably damaging	Het
Umodl1	T	C	17: 30,959,373	S108P	probably benign	Het
Unc79	T	G	12: 103,074,853	M715R	probably benign	Het
Usp34	C	A	11: 23,433,175		probably benign	Het
Utrn	T	G	10: 12,455,566		probably null	Het
Zfp830	T	C	11: 82,765,339		probably null	Het

Other mutations in Hyal2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Hyal2	APN	9	107570405	missense	probably damaging	1.00
IGL00337:Hyal2	APN	9	107572172	missense	probably damaging	1.00
IGL01834:Hyal2	APN	9	107570906	missense	probably damaging	1.00
IGL02469:Hyal2	APN	9	107572212	missense	probably damaging	1.00
R0505:Hyal2	UTSW	9	107572071	missense	probably benign	0.28
R1543:Hyal2	UTSW	9	107570187	missense	probably damaging	0.98
R1858:Hyal2	UTSW	9	107572338	missense	probably benign	0.01
R1974:Hyal2	UTSW	9	107572172	missense	probably damaging	1.00
R3842:Hyal2	UTSW	9	107572121	missense	probably damaging	0.99
R4400:Hyal2	UTSW	9	107570853	missense	probably damaging	1.00
R5111:Hyal2	UTSW	9	107571111	missense	probably benign	0.00
R5922:Hyal2	UTSW	9	107570907	missense	probably damaging	1.00
R6026:Hyal2	UTSW	9	107572199	missense	probably benign	0.00
R6266:Hyal2	UTSW	9	107570715	missense	probably benign	0.08
R9563:Hyal2	UTSW	9	107570645	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CCTTTTCCAGGAGACCTGCCAATAC -3'
(R):5'- TCATAAGGTCCAGGTGAGAGCCAC -3'

Sequencing Primer
(F):5'- GGAGACCTGCCAATACCTCAAG -3'
(R):5'- CAGGTGAGAGCCACAGCTAC -3'

Posted On

2013-11-18