Mutagenetix > Incidental Mutation

Incidental Mutation 'R1543:Hyal2'

171935

Institutional Source

Beutler Lab

Gene Symbol

Hyal2

Ensembl Gene

ENSMUSG00000010047

Gene Name

hyaluronoglucosaminidase 2

Synonyms

MMRRC Submission

039582-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1543 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107445144-107449978 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107447386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 13 (L13P)

Ref Sequence

ENSEMBL: ENSMUSP00000142207 (fasta)

Gene Model

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

AlphaFold

O35632

Predicted Effect

probably benign
Transcript: ENSMUST00000010191
AA Change: L13P

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000010191
Gene: ENSMUSG00000010047
AA Change: L13P

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 damaging
Transcript: ENSMUST00000192887
AA Change: L13P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142207
Gene: ENSMUSG00000010047
AA Change: L13P

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: L13P

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000142141
Gene: ENSMUSG00000010047
AA Change: L13P

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 damaging
Transcript: ENSMUST00000194794
AA Change: L13P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142019
Gene: ENSMUSG00000010047
AA Change: L13P

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 damaging
Transcript: ENSMUST00000195681
AA Change: L13P

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141820
Gene: ENSMUSG00000010047
AA Change: L13P

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: L13P

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000141280
Gene: ENSMUSG00000010047
AA Change: L13P

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: ENSMUST00000194628

Meta Mutation Damage Score

0.8003

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.2%

Validation Efficiency

95% (77/81)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	G	A	6: 40,945,138 (GRCm39)	V206I	probably damaging	Het
Abca8b	A	C	11: 109,865,500 (GRCm39)	M319R	probably damaging	Het
Abcc6	T	C	7: 45,665,928 (GRCm39)	R231G	probably benign	Het
Acadm	A	G	3: 153,635,209 (GRCm39)	Y302H	probably damaging	Het
Acox3	C	A	5: 35,760,352 (GRCm39)	R423S	probably damaging	Het
Adam7	T	A	14: 68,759,371 (GRCm39)		probably benign	Het
Adgrb3	A	C	1: 25,527,169 (GRCm39)	M589R	probably benign	Het
Adgrl2	A	C	3: 148,564,909 (GRCm39)	F224V	probably damaging	Het
Adm2	G	C	15: 89,208,282 (GRCm39)	G74A	probably damaging	Het
Aen	T	A	7: 78,552,370 (GRCm39)	V15E	probably damaging	Het
Ankzf1	T	A	1: 75,169,160 (GRCm39)	V22D	possibly damaging	Het
Arap2	T	A	5: 62,763,498 (GRCm39)	K1549*	probably null	Het
Arhgef11	G	A	3: 87,620,324 (GRCm39)	R430H	probably benign	Het
Asb17	T	G	3: 153,550,148 (GRCm39)	L60W	probably damaging	Het
BC035044	T	C	6: 128,867,948 (GRCm39)		probably benign	Het
Bltp2	A	G	11: 78,166,000 (GRCm39)	T1422A	probably benign	Het
Cacna2d1	A	T	5: 16,471,716 (GRCm39)	M254L	possibly damaging	Het
Celf6	T	C	9: 59,511,160 (GRCm39)		probably benign	Het
Cemip2	G	T	19: 21,789,937 (GRCm39)	A668S	probably benign	Het
Coro2b	C	T	9: 62,333,123 (GRCm39)	V120I	probably benign	Het
Cyp20a1	C	A	1: 60,415,353 (GRCm39)		probably benign	Het
Cyp2c67	C	A	19: 39,631,708 (GRCm39)		probably benign	Het
Dclk3	A	G	9: 111,297,122 (GRCm39)	H222R	probably benign	Het
Deaf1	A	G	7: 140,904,060 (GRCm39)	S109P	possibly damaging	Het
Dlg5	T	A	14: 24,194,516 (GRCm39)	D1675V	probably damaging	Het
Dsg2	T	A	18: 20,727,268 (GRCm39)	V605E	probably benign	Het
Dync2i1	T	C	12: 116,195,404 (GRCm39)		probably benign	Het
Frem2	A	T	3: 53,479,876 (GRCm39)	I1939N	possibly damaging	Het
Fsip2	A	T	2: 82,811,931 (GRCm39)	Y2750F	possibly damaging	Het
Gpr39	T	A	1: 125,800,161 (GRCm39)	I304N	probably damaging	Het
Hdac7	G	A	15: 97,707,410 (GRCm39)		probably benign	Het
Hipk1	T	C	3: 103,685,480 (GRCm39)	H45R	probably benign	Het
Kdm1b	C	T	13: 47,221,997 (GRCm39)	R479W	probably damaging	Het
Lilrb4b	A	G	10: 51,357,517 (GRCm39)	T118A	probably damaging	Het
Lin7a	C	A	10: 107,247,930 (GRCm39)	F78L	possibly damaging	Het
Lpin3	A	G	2: 160,737,310 (GRCm39)	D119G	possibly damaging	Het
Lrp2	G	A	2: 69,331,074 (GRCm39)	R1661C	probably damaging	Het
Lrrc45	A	G	11: 120,610,844 (GRCm39)	K527E	probably benign	Het
Map10	C	T	8: 126,397,611 (GRCm39)	P335S	probably benign	Het
Mast3	A	G	8: 71,244,955 (GRCm39)	S2P	possibly damaging	Het
Mbtps1	A	G	8: 120,268,808 (GRCm39)		probably benign	Het
Mms22l	T	A	4: 24,591,084 (GRCm39)	N1018K	probably benign	Het
Nckipsd	C	A	9: 108,689,571 (GRCm39)	A244D	possibly damaging	Het
Nt5el	A	T	13: 105,248,877 (GRCm39)	R364*	probably null	Het
Or12k5	C	A	2: 36,895,139 (GRCm39)	L162F	probably damaging	Het
Or1j1	A	T	2: 36,703,069 (GRCm39)	F12I	probably damaging	Het
Or4k44	A	G	2: 111,368,142 (GRCm39)	V164A	probably benign	Het
Or52j3	T	A	7: 102,836,421 (GRCm39)	F204L	probably benign	Het
Or8b12c	T	A	9: 37,715,243 (GRCm39)	I12N	possibly damaging	Het
Pcx	A	T	19: 4,652,251 (GRCm39)	D112V	probably damaging	Het
Phf14	G	A	6: 11,987,682 (GRCm39)		probably null	Het
Pkd1l1	A	G	11: 8,851,200 (GRCm39)	I744T	probably damaging	Het
Ppip5k2	A	G	1: 97,668,607 (GRCm39)	L560P	probably damaging	Het
Psmd14	A	T	2: 61,615,874 (GRCm39)	M248L	probably benign	Het
Ryr1	T	G	7: 28,782,962 (GRCm39)	E1884A	possibly damaging	Het
Scn4b	T	A	9: 45,061,727 (GRCm39)	S204R	probably damaging	Het
Slc12a1	A	T	2: 125,026,777 (GRCm39)	M471L	possibly damaging	Het
Slc17a5	A	G	9: 78,468,082 (GRCm39)	V236A	probably benign	Het
Sobp	T	C	10: 42,897,720 (GRCm39)	T622A	probably damaging	Het
Spata31d1a	G	T	13: 59,850,056 (GRCm39)	R691S	probably benign	Het
Speg	A	G	1: 75,398,595 (GRCm39)	E2014G	probably damaging	Het
Steap4	A	G	5: 8,025,902 (GRCm39)		probably benign	Het
Tas2r144	G	A	6: 42,192,537 (GRCm39)	M92I	probably benign	Het
Tbc1d5	T	C	17: 51,242,560 (GRCm39)	Q179R	probably benign	Het
Tcf25	T	C	8: 124,115,326 (GRCm39)	Y188H	probably benign	Het
Tmem200a	G	A	10: 25,954,518 (GRCm39)		probably benign	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Tssk5	T	C	15: 76,256,409 (GRCm39)	T337A	probably benign	Het
Ttc23	T	C	7: 67,328,743 (GRCm39)	V228A	probably benign	Het
Tulp1	A	T	17: 28,581,645 (GRCm39)		probably benign	Het
Uqcc3	A	G	19: 8,858,117 (GRCm39)	F25L	probably damaging	Het
Vmn2r1	G	A	3: 63,996,994 (GRCm39)	G217S	probably damaging	Het
Vmn2r120	C	T	17: 57,829,374 (GRCm39)	E508K	probably benign	Het
Wdfy3	C	A	5: 101,991,947 (GRCm39)	V3451L	probably benign	Het
Wdr19	G	A	5: 65,382,033 (GRCm39)	V418I	probably benign	Het
Xirp2	C	T	2: 67,338,383 (GRCm39)	T208I	probably benign	Het
Xpnpep1	A	G	19: 52,980,107 (GRCm39)	V639A	probably benign	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
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'- GCTATCTCCCAAACCTGTTACAGCC -3'
(R):5'- AAAACCCTCATTCGGTGTAGCCTTC -3'

Sequencing Primer
(F):5'- TGTGCCGCACAGTATGG -3'
(R):5'- TTCACATCGAAGGCCCTAAGG -3'

Posted On

2014-04-13