Mutagenetix > Incidental Mutation

Incidental Mutation 'R6266:Hyal2'

507016

Institutional Source

Beutler Lab

Gene Symbol

Hyal2

Ensembl Gene

ENSMUSG00000010047

Gene Name

hyaluronoglucosaminidase 2

Synonyms

MMRRC Submission

044378-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6266 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107445144-107449978 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107447914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 189 (N189S)

Ref Sequence

ENSEMBL: ENSMUSP00000141820 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010191] [ENSMUST00000010198] [ENSMUST00000192887] [ENSMUST00000193747] [ENSMUST00000195681] [ENSMUST00000195752] [ENSMUST00000194794]

AlphaFold

O35632

Predicted Effect

probably benign
Transcript: ENSMUST00000010191
AA Change: N189S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000010191
Gene: ENSMUSG00000010047
AA Change: N189S

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: ENSMUST00000010198

SMART Domains

Protein: ENSMUSP00000010198
Gene: ENSMUSG00000010054

Domain	Start	End	E-Value	Type
Pfam:TUSC2	1	109	9.2e-47	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181099

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192051

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
AA Change: N189S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000142141
Gene: ENSMUSG00000010047
AA Change: N189S

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: ENSMUST00000195681
AA Change: N189S

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000141820
Gene: ENSMUSG00000010047
AA Change: N189S

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: ENSMUST00000195752
AA Change: N189S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000141280
Gene: ENSMUSG00000010047
AA Change: N189S

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

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: ENSMUST00000194628

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.7%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	T	C	13: 4,320,206 (GRCm39)	T295A	probably benign	Het
Aldh2	C	A	5: 121,706,997 (GRCm39)	V217L	probably damaging	Het
Arap3	G	A	18: 38,123,844 (GRCm39)	R392C	probably damaging	Het
Aurkaip1	T	G	4: 155,916,977 (GRCm39)	L75R	probably damaging	Het
Blm	C	A	7: 80,149,688 (GRCm39)	K640N	probably benign	Het
Brap	A	T	5: 121,823,328 (GRCm39)	T487S	probably benign	Het
Ccser2	G	A	14: 36,601,632 (GRCm39)	P276L	probably damaging	Het
Cdc42bpg	A	G	19: 6,361,503 (GRCm39)	E343G	probably damaging	Het
Cecr2	A	G	6: 120,738,647 (GRCm39)	S1097G	probably benign	Het
D7Ertd443e	A	T	7: 133,951,514 (GRCm39)	V53D	probably damaging	Het
Ddx3y	G	A	Y: 1,266,635 (GRCm39)	T274I	probably damaging	Homo
Dnah5	T	A	15: 28,335,773 (GRCm39)	F2246L	possibly damaging	Het
Dock3	T	A	9: 106,841,952 (GRCm39)	H959L	probably damaging	Het
Dpy19l1	A	G	9: 24,350,442 (GRCm39)	S406P	probably damaging	Het
Efcab8	T	C	2: 153,625,688 (GRCm39)	L116P	probably damaging	Het
Efnb2	T	C	8: 8,710,524 (GRCm39)	I31V	probably benign	Het
Fbxl12	A	T	9: 20,549,911 (GRCm39)	L271Q	probably damaging	Het
Fmn1	T	A	2: 113,426,683 (GRCm39)	N1133K	probably damaging	Het
Frmpd2	T	C	14: 33,287,864 (GRCm39)	S1219P	probably benign	Het
Gm7298	A	T	6: 121,759,663 (GRCm39)	R1187S	probably damaging	Het
H6pd	T	C	4: 150,080,414 (GRCm39)	I136V	probably benign	Het
Jmjd1c	C	T	10: 67,085,439 (GRCm39)	P2410S	probably damaging	Het
Larp1	A	G	11: 57,933,089 (GRCm39)	D231G	probably damaging	Het
Lilra5	T	A	7: 4,244,927 (GRCm39)	S233T	possibly damaging	Het
Lrrc43	T	C	5: 123,641,340 (GRCm39)	F508S	probably damaging	Het
Marchf4	T	C	1: 72,491,647 (GRCm39)	Y208C	probably damaging	Het
Mtarc2	T	C	1: 184,566,140 (GRCm39)	R85G	probably damaging	Het
Nr1h2	A	T	7: 44,201,476 (GRCm39)	C45*	probably null	Het
Or10ag2	T	A	2: 87,249,350 (GRCm39)	S319R	probably benign	Het
Or2n1e	A	G	17: 38,586,039 (GRCm39)	I126V	probably benign	Het
Ppp2r5d	G	T	17: 46,996,629 (GRCm39)		probably null	Het
Prpf40a	A	T	2: 53,046,639 (GRCm39)	S324T	probably benign	Het
Psmb7	T	C	2: 38,530,199 (GRCm39)	D94G	probably damaging	Het
Psmd11	A	G	11: 80,336,767 (GRCm39)	T140A	probably benign	Het
Pygm	T	C	19: 6,448,169 (GRCm39)	I737T	probably damaging	Het
Rbp3	G	A	14: 33,676,418 (GRCm39)	R122H	probably benign	Het
Relch	T	G	1: 105,659,007 (GRCm39)		probably null	Het
Rrp8	T	C	7: 105,385,596 (GRCm39)	E3G	probably damaging	Het
Sacm1l	T	C	9: 123,371,485 (GRCm39)	S37P	probably damaging	Het
Slc12a3	A	G	8: 95,085,099 (GRCm39)	R939G	possibly damaging	Het
Slc20a1	T	C	2: 129,051,814 (GRCm39)	S608P	possibly damaging	Het
Sntg1	T	C	1: 8,624,953 (GRCm39)	Q281R	possibly damaging	Het
Spata31d1e	C	T	13: 59,890,126 (GRCm39)	V147I	probably benign	Het
Tefm	A	G	11: 80,028,814 (GRCm39)	L194P	probably damaging	Het
Terf2ip	T	A	8: 112,738,547 (GRCm39)	V145E	probably damaging	Het
Tmem231	T	A	8: 112,641,897 (GRCm39)	E219V	probably null	Het
Tmx3	T	A	18: 90,555,334 (GRCm39)		probably null	Het
Tns3	G	A	11: 8,442,987 (GRCm39)	P459S	probably damaging	Het
Trav13d-1	T	A	14: 53,089,220 (GRCm39)	S76R	probably benign	Het
Trp63	A	G	16: 25,681,210 (GRCm39)	N254S	probably damaging	Het
Tsen34	A	G	7: 3,696,984 (GRCm39)		probably benign	Het
Unc13d	A	G	11: 115,959,064 (GRCm39)	V701A	probably damaging	Het
Usp36	A	G	11: 118,159,411 (GRCm39)	S513P	probably damaging	Het
Uspl1	T	A	5: 149,141,176 (GRCm39)	S392T	probably damaging	Het
Vmn2r102	T	A	17: 19,899,007 (GRCm39)	C450S	probably benign	Het
Zfp128	T	C	7: 12,624,897 (GRCm39)	Y422H	possibly damaging	Het
Zkscan7	C	T	9: 122,724,299 (GRCm39)	Q423*	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
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
R9563:Hyal2	UTSW	9	107,447,844 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CATTGACTGGGAGGAATGGC -3'
(R):5'- CAAAGTTGCGGCTGTGTAC -3'

Sequencing Primer
(F):5'- CGGCCTGTATGGGTTCGAAAC -3'
(R):5'- TGTCTCGTCCAGGTACACAGAG -3'

Posted On

2018-03-15