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

107445144-107449978 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107449445 bp (GRCm39)

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] [ENSMUST00000195752] [ENSMUST00000195681] [ENSMUST00000193747] [ENSMUST00000194794] [ENSMUST00000192887]

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

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

noncoding transcript
Transcript: ENSMUST00000181099

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195667

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: 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

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

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
9130230L23Rik	T	C	5: 66,145,698 (GRCm39)	T138A	unknown	Het
Abi3bp	T	C	16: 56,474,444 (GRCm39)		probably null	Het
Alpk3	A	T	7: 80,728,348 (GRCm39)	M493L	probably benign	Het
Bace2	C	T	16: 97,158,060 (GRCm39)	A20V	unknown	Het
Bms1	T	C	6: 118,382,182 (GRCm39)	D452G	probably benign	Het
Ccdc187	T	C	2: 26,184,389 (GRCm39)	T3A	probably damaging	Het
Ctu2	T	C	8: 123,208,238 (GRCm39)	V95A	possibly damaging	Het
Cyp2a5	A	G	7: 26,534,966 (GRCm39)	K60E	probably benign	Het
Cyp4f13	T	C	17: 33,144,542 (GRCm39)	H318R	probably damaging	Het
Dlgap5	G	A	14: 47,637,023 (GRCm39)	T485M	probably damaging	Het
Dsp	C	T	13: 38,367,082 (GRCm39)		probably benign	Het
Ell2	T	C	13: 75,894,538 (GRCm39)		probably benign	Het
Eml2	A	T	7: 18,913,687 (GRCm39)	Y168F	probably benign	Het
Entrep1	T	A	19: 23,950,939 (GRCm39)	R547S	probably benign	Het
Ep400	C	T	5: 110,883,388 (GRCm39)		probably benign	Het
Ercc4	C	A	16: 12,948,061 (GRCm39)	A336D	probably benign	Het
Fat4	T	C	3: 39,037,235 (GRCm39)	L3629S	probably benign	Het
Gabbr2	C	T	4: 46,664,833 (GRCm39)	R925H	probably damaging	Het
Gfi1b	A	T	2: 28,503,877 (GRCm39)	W108R	probably damaging	Het
Gtse1	C	T	15: 85,746,508 (GRCm39)	P108L	probably damaging	Het
Hfm1	A	T	5: 107,026,696 (GRCm39)	F140I	probably damaging	Het
Igfn1	A	G	1: 135,902,585 (GRCm39)	Y371H	probably damaging	Het
Il22b	T	G	10: 118,126,056 (GRCm39)	*180C	probably null	Het
Kdm2b	T	C	5: 123,099,604 (GRCm39)	T118A	possibly damaging	Het
Lama5	A	T	2: 179,821,557 (GRCm39)		probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lmo7	C	T	14: 102,157,910 (GRCm39)		probably benign	Het
Lrrc37a	G	T	11: 103,388,457 (GRCm39)	P2323T	unknown	Het
Lrrc38	A	G	4: 143,077,088 (GRCm39)	Y117C	probably benign	Het
Myo1e	T	C	9: 70,291,281 (GRCm39)	V1024A	probably benign	Het
Myrfl	T	C	10: 116,612,637 (GRCm39)	N904S	possibly damaging	Het
Or12d13	T	A	17: 37,647,917 (GRCm39)	I69F	probably damaging	Het
Or4k47	T	C	2: 111,451,690 (GRCm39)	H243R	probably damaging	Het
Or9g4b	T	C	2: 85,616,437 (GRCm39)	V194A	possibly damaging	Het
Pld4	A	T	12: 112,729,876 (GRCm39)	I53F	probably benign	Het
Plekhg4	T	A	8: 106,108,309 (GRCm39)	C1117*	probably null	Het
Prss39	G	A	1: 34,541,167 (GRCm39)	E224K	probably benign	Het
Psme1	G	T	14: 55,818,107 (GRCm39)	G149V	probably damaging	Het
Sanbr	A	C	11: 23,561,762 (GRCm39)	I358S	probably benign	Het
Soat2	T	A	15: 102,061,573 (GRCm39)		probably null	Het
Stab2	C	T	10: 86,742,997 (GRCm39)		probably null	Het
Tcf7l2	A	G	19: 55,731,627 (GRCm39)	T127A	probably benign	Het
Tcp1	T	C	17: 13,142,091 (GRCm39)		probably benign	Het
Thbs4	G	A	13: 92,899,434 (GRCm39)		probably benign	Het
Tmf1	T	C	6: 97,150,261 (GRCm39)	D482G	probably damaging	Het
Trim66	G	T	7: 109,071,526 (GRCm39)	P591H	probably damaging	Het
Umodl1	T	C	17: 31,178,347 (GRCm39)	S108P	probably benign	Het
Unc79	T	G	12: 103,041,112 (GRCm39)	M715R	probably benign	Het
Usp34	C	A	11: 23,383,175 (GRCm39)		probably benign	Het
Utrn	T	G	10: 12,331,310 (GRCm39)		probably null	Het
Zfp830	T	C	11: 82,656,165 (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
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
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

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