Mutagenetix > Incidental Mutation

Incidental Mutation 'R9551:Has2'

720511

Institutional Source

Beutler Lab

Gene Symbol

Has2

Ensembl Gene

ENSMUSG00000022367

Gene Name

hyaluronan synthase 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9551 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56529023-56557935 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56531090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 542 (K542E)

Ref Sequence

ENSEMBL: ENSMUSP00000062212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050544]

AlphaFold

P70312

Predicted Effect

probably benign
Transcript: ENSMUST00000050544
AA Change: K542E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000062212
Gene: ENSMUSG00000022367
AA Change: K542E

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	44	66	N/A	INTRINSIC
Pfam:Glycos_transf_2	86	156	1.7e-7	PFAM
Pfam:Glyco_tranf_2_3	159	357	1.2e-17	PFAM
Pfam:Chitin_synth_2	193	464	1.9e-17	PFAM
Pfam:Glyco_trans_2_3	207	534	1.3e-9	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS2 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to glycosaminoglycan synthetase (DG42) from Xenopus laevis, and human and murine hyaluronan synthase 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation die during midgestation with severe defects in yolk sac and systemic vasculature, including pericardial edema, compaction of the extracellular space, and absence of endocardial cushions and trabeculae. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Birc6	T	A	17: 74,916,064 (GRCm39)	L1660Q	probably benign	Het
Blvrb	A	G	7: 27,158,786 (GRCm39)	D62G	probably benign	Het
Ccdc68	T	A	18: 70,089,113 (GRCm39)	S219T	probably damaging	Het
Cep120	C	A	18: 53,819,033 (GRCm39)	R886L	possibly damaging	Het
Cep290	T	C	10: 100,372,729 (GRCm39)	S1176P	probably damaging	Het
Cnbp	A	G	6: 87,822,108 (GRCm39)	Y139H	probably damaging	Het
Csmd3	T	A	15: 48,655,356 (GRCm39)		probably benign	Het
Cyp2c66	T	C	19: 39,172,246 (GRCm39)	V387A	probably damaging	Het
Dab2ip	T	A	2: 35,605,330 (GRCm39)	C504S	possibly damaging	Het
Depdc7	C	T	2: 104,553,220 (GRCm39)		probably null	Het
Edrf1	A	G	7: 133,240,742 (GRCm39)	D73G	probably damaging	Het
Elp3	T	C	14: 65,797,634 (GRCm39)	I365V	probably benign	Het
Erbb4	G	A	1: 68,779,642 (GRCm39)	Q45*	probably null	Het
Fam124a	T	G	14: 62,843,988 (GRCm39)	S499A	possibly damaging	Het
Hnrnpk	A	G	13: 58,544,058 (GRCm39)	S116P	probably benign	Het
Hs3st6	T	C	17: 24,977,228 (GRCm39)	L236P	probably damaging	Het
Il15	T	A	8: 83,061,177 (GRCm39)	H100L	probably benign	Het
Kif14	C	A	1: 136,455,219 (GRCm39)	S1630R	probably damaging	Het
Madd	T	C	2: 91,000,434 (GRCm39)	T544A	probably damaging	Het
Mamdc4	T	C	2: 25,460,035 (GRCm39)	D76G	probably damaging	Het
Mark2	G	T	19: 7,263,263 (GRCm39)	T201N	possibly damaging	Het
Mfsd9	T	C	1: 40,813,152 (GRCm39)	T388A	probably damaging	Het
Mgst3	T	C	1: 167,205,871 (GRCm39)	Y36C	probably damaging	Het
Myh11	T	A	16: 14,064,673 (GRCm39)	E215V		Het
Nmd3	T	C	3: 69,647,329 (GRCm39)	V277A	possibly damaging	Het
Or11g1	C	T	14: 50,651,625 (GRCm39)	S208F	probably benign	Het
Or2y14	C	T	11: 49,404,942 (GRCm39)	T159I	probably damaging	Het
Or6k4	A	T	1: 173,964,885 (GRCm39)	T192S	probably benign	Het
Pbx1	T	C	1: 168,258,910 (GRCm39)	D55G	possibly damaging	Het
Pdzrn3	T	C	6: 101,127,855 (GRCm39)	D937G	probably damaging	Het
Phb1	G	A	11: 95,562,257 (GRCm39)	V45I	probably benign	Het
Pi4ka	T	C	16: 17,125,574 (GRCm39)	E1187G		Het
Piezo2	T	C	18: 63,166,033 (GRCm39)	E2066G	possibly damaging	Het
Pkn2	T	C	3: 142,499,594 (GRCm39)	D977G	probably damaging	Het
Polr1b	C	T	2: 128,957,684 (GRCm39)	R580*	probably null	Het
Pyroxd2	A	G	19: 42,719,756 (GRCm39)		probably null	Het
Rpain	T	C	11: 70,865,816 (GRCm39)	S194P	probably damaging	Het
Scaf1	A	G	7: 44,658,351 (GRCm39)	L176P	probably damaging	Het
Scgb1b12	C	A	7: 32,033,974 (GRCm39)	A78E	probably benign	Het
Scgb2b19	A	G	7: 32,979,198 (GRCm39)	F28S	probably damaging	Het
Setx	T	C	2: 29,020,244 (GRCm39)	M77T	possibly damaging	Het
Skint5	C	T	4: 113,798,052 (GRCm39)	C177Y	possibly damaging	Het
Slco6c1	T	C	1: 97,055,827 (GRCm39)	S25G	probably benign	Het
Sorbs1	G	A	19: 40,361,923 (GRCm39)	R154*	probably null	Het
Ssb	T	A	2: 69,696,982 (GRCm39)	D107E	probably benign	Het
Tcerg1l	T	C	7: 137,995,998 (GRCm39)	D170G	possibly damaging	Het
Tle5	T	C	10: 81,399,988 (GRCm39)	V62A	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmco4	G	A	4: 138,779,895 (GRCm39)	V447M	probably damaging	Het
Trf	C	T	9: 103,099,283 (GRCm39)	V339I	probably benign	Het
Ucp1	T	C	8: 84,024,509 (GRCm39)	L278P	probably damaging	Het
Vmn1r82	A	G	7: 12,039,600 (GRCm39)	N291S	possibly damaging	Het
Vmn1r86	A	T	7: 12,836,781 (GRCm39)	Y32N	possibly damaging	Het
Wnt10b	C	A	15: 98,670,713 (GRCm39)	G272W	probably damaging	Het
Xpo4	A	G	14: 57,828,512 (GRCm39)	F783L	possibly damaging	Het
Yipf4	T	C	17: 74,806,024 (GRCm39)	F221S	probably damaging	Het
Zfp1005	C	A	2: 150,109,856 (GRCm39)	T182K	unknown	Het
Zfp512	G	A	5: 31,623,676 (GRCm39)	C14Y	probably benign	Het
Zfp595	A	T	13: 67,465,067 (GRCm39)	S402T	probably damaging	Het
Zfp658	G	T	7: 43,222,567 (GRCm39)	V281F	probably benign	Het
Zfp827	T	G	8: 79,787,403 (GRCm39)	W190G	probably damaging	Het
Zpld2	G	A	4: 133,929,312 (GRCm39)	P331L	probably benign	Het

Other mutations in Has2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01631:Has2	APN	15	56,545,072 (GRCm39)	missense	possibly damaging	0.51
IGL02027:Has2	APN	15	56,531,567 (GRCm39)	missense	probably damaging	1.00
IGL02178:Has2	APN	15	56,545,456 (GRCm39)	missense	probably damaging	1.00
IGL02493:Has2	APN	15	56,531,320 (GRCm39)	missense	probably damaging	1.00
IGL02533:Has2	APN	15	56,545,091 (GRCm39)	missense	probably benign	0.00
IGL03142:Has2	APN	15	56,545,491 (GRCm39)	missense	possibly damaging	0.92
IGL03240:Has2	APN	15	56,531,656 (GRCm39)	missense	probably damaging	1.00
R0189:Has2	UTSW	15	56,531,831 (GRCm39)	missense	probably damaging	1.00
R0362:Has2	UTSW	15	56,545,057 (GRCm39)	missense	probably damaging	1.00
R1377:Has2	UTSW	15	56,545,202 (GRCm39)	missense	probably damaging	1.00
R1762:Has2	UTSW	15	56,545,006 (GRCm39)	missense	probably benign	0.13
R1845:Has2	UTSW	15	56,531,974 (GRCm39)	missense	probably damaging	1.00
R2012:Has2	UTSW	15	56,531,264 (GRCm39)	missense	probably damaging	1.00
R2190:Has2	UTSW	15	56,531,183 (GRCm39)	missense	probably benign	0.00
R2656:Has2	UTSW	15	56,545,224 (GRCm39)	missense	possibly damaging	0.90
R2966:Has2	UTSW	15	56,545,533 (GRCm39)	missense	probably damaging	1.00
R4361:Has2	UTSW	15	56,545,344 (GRCm39)	missense	probably damaging	1.00
R5698:Has2	UTSW	15	56,531,312 (GRCm39)	missense	probably damaging	1.00
R5826:Has2	UTSW	15	56,531,498 (GRCm39)	missense	probably damaging	1.00
R5883:Has2	UTSW	15	56,531,459 (GRCm39)	missense	possibly damaging	0.49
R5942:Has2	UTSW	15	56,531,192 (GRCm39)	nonsense	probably null
R6433:Has2	UTSW	15	56,531,194 (GRCm39)	missense	possibly damaging	0.79
R6560:Has2	UTSW	15	56,531,660 (GRCm39)	missense	probably damaging	1.00
R6603:Has2	UTSW	15	56,531,968 (GRCm39)	missense	probably damaging	1.00
R7094:Has2	UTSW	15	56,545,017 (GRCm39)	missense	probably damaging	1.00
R7597:Has2	UTSW	15	56,531,817 (GRCm39)	missense	probably damaging	1.00
R7738:Has2	UTSW	15	56,531,108 (GRCm39)	missense	possibly damaging	0.89
R8060:Has2	UTSW	15	56,533,341 (GRCm39)	missense	probably benign	0.00
R8145:Has2	UTSW	15	56,545,175 (GRCm39)	missense	probably benign
R8915:Has2	UTSW	15	56,531,885 (GRCm39)	missense	probably damaging	1.00
R8964:Has2	UTSW	15	56,531,061 (GRCm39)	missense	probably damaging	0.96
R9144:Has2	UTSW	15	56,545,588 (GRCm39)	missense	probably benign	0.03
R9411:Has2	UTSW	15	56,531,306 (GRCm39)	missense	possibly damaging	0.62
R9416:Has2	UTSW	15	56,531,684 (GRCm39)	missense	probably damaging	1.00
R9552:Has2	UTSW	15	56,531,090 (GRCm39)	missense	probably benign	0.00
Z1177:Has2	UTSW	15	56,544,979 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CAGCAGCAGTGATATGTCTCC -3'
(R):5'- CATCTGGAAGGAAGACCATTGTTG -3'

Sequencing Primer
(F):5'- CAGCAGTGATATGTCTCCTGTGG -3'
(R):5'- CCAGTGTCCGTGTGGTTTACAATC -3'

Posted On

2022-08-09