Mutagenetix > Incidental Mutation

Incidental Mutation 'R5942:Has2'

460366

Institutional Source

Beutler Lab

Gene Symbol

Has2

Ensembl Gene

ENSMUSG00000022367

Gene Name

hyaluronan synthase 2

Synonyms

MMRRC Submission

044134-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5942 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56529023-56557935 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 56531192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 508 (K508*)

Ref Sequence

ENSEMBL: ENSMUSP00000062212 (fasta)

Gene Model

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

AlphaFold

P70312

Predicted Effect

probably null
Transcript: ENSMUST00000050544
AA Change: K508*

SMART Domains

Protein: ENSMUSP00000062212
Gene: ENSMUSG00000022367
AA Change: K508*

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: 99.8%
3x: 99.3%
10x: 96.7%
20x: 89.5%

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
Abcc10	C	T	17: 46,623,333 (GRCm39)	V860M	probably benign	Het
Accs	A	T	2: 93,666,392 (GRCm39)	L432M	probably damaging	Het
Actrt3	T	A	3: 30,652,813 (GRCm39)	N94Y	possibly damaging	Het
Adamts18	T	C	8: 114,504,380 (GRCm39)	Q80R	probably benign	Het
Ccr8	G	T	9: 119,923,772 (GRCm39)	V296F	probably damaging	Het
Cep170	T	A	1: 176,583,985 (GRCm39)	E798V	probably damaging	Het
Cttnbp2	T	A	6: 18,448,439 (GRCm39)	E73D	probably damaging	Het
Cyp2a4	A	T	7: 26,010,129 (GRCm39)		probably null	Het
Dync2h1	A	T	9: 7,117,466 (GRCm39)	Y41*	probably null	Het
Enc1	G	A	13: 97,382,887 (GRCm39)	D466N	probably benign	Het
Enpp1	C	A	10: 24,551,966 (GRCm39)	E138*	probably null	Het
Entrep1	A	G	19: 23,963,834 (GRCm39)	V245A	probably damaging	Het
Ezh2	T	C	6: 47,554,516 (GRCm39)	R27G	possibly damaging	Het
Fut10	A	G	8: 31,691,485 (GRCm39)	N110S	possibly damaging	Het
Glt1d1	A	T	5: 127,721,534 (GRCm39)		probably null	Het
Gm14393	G	A	2: 174,903,689 (GRCm39)	Q73*	probably null	Het
Gpr156	C	T	16: 37,825,264 (GRCm39)	P494S	probably benign	Het
Hc	A	T	2: 34,918,137 (GRCm39)	C715*	probably null	Het
Hook2	C	T	8: 85,721,409 (GRCm39)		probably null	Het
Klhdc7b	A	C	15: 89,271,634 (GRCm39)	I839L	probably benign	Het
Kndc1	T	C	7: 139,516,792 (GRCm39)	L1584P	probably damaging	Het
Lamp1	T	C	8: 13,223,941 (GRCm39)	F358L	probably damaging	Het
Man2a1	A	G	17: 64,932,375 (GRCm39)	K154R	probably benign	Het
Mga	A	G	2: 119,777,440 (GRCm39)	I1871V	probably benign	Het
Mgmt	T	A	7: 136,723,219 (GRCm39)	D96E	probably benign	Het
Morc2a	C	A	11: 3,629,936 (GRCm39)	T424K	probably damaging	Het
Myo1g	A	G	11: 6,464,888 (GRCm39)	L462P	probably damaging	Het
Ncaph	C	A	2: 126,958,608 (GRCm39)		probably null	Het
Nlrc3	A	T	16: 3,767,293 (GRCm39)	D969E	probably damaging	Het
Nt5c3	A	T	6: 56,874,839 (GRCm39)		probably null	Het
Or4c12b	G	T	2: 89,646,684 (GRCm39)	E5*	probably null	Het
Or5ac15	A	T	16: 58,940,039 (GRCm39)	Y131*	probably null	Het
Or5d41	A	C	2: 88,054,916 (GRCm39)	I153M	probably benign	Het
Or8h8	T	C	2: 86,753,750 (GRCm39)	N42S	probably damaging	Het
Parp14	C	A	16: 35,659,737 (GRCm39)	M1628I	probably damaging	Het
Parp8	G	T	13: 117,005,969 (GRCm39)	P693Q	probably benign	Het
Parp9	A	G	16: 35,792,259 (GRCm39)	D485G	possibly damaging	Het
Pcdha1	T	A	18: 37,063,444 (GRCm39)	V36D	probably damaging	Het
Pcdhb5	C	T	18: 37,453,838 (GRCm39)	Q73*	probably null	Het
Pecam1	G	T	11: 106,552,809 (GRCm39)		probably benign	Het
Pex1	A	G	5: 3,660,277 (GRCm39)	I527V	probably benign	Het
Phf11	G	A	14: 59,497,593 (GRCm39)	P13S	probably benign	Het
Ppp4r4	T	A	12: 103,553,706 (GRCm39)	V388D	possibly damaging	Het
Psmc4	C	T	7: 27,746,480 (GRCm39)	V202I	probably damaging	Het
Ptx3	T	G	3: 66,127,484 (GRCm39)	M1R	probably null	Het
Rimbp3	A	G	16: 17,029,752 (GRCm39)	T1059A	probably benign	Het
Rmdn3	G	A	2: 118,978,058 (GRCm39)	A181V	probably damaging	Het
Rnase10	A	T	14: 51,246,735 (GRCm39)	M38L	probably benign	Het
Sec16b	T	A	1: 157,358,920 (GRCm39)	Y118N	probably damaging	Het
Sigmar1	T	C	4: 41,741,159 (GRCm39)	T32A	probably benign	Het
Srcap	A	G	7: 127,137,180 (GRCm39)	D954G	probably damaging	Het
Tfrc	A	G	16: 32,445,533 (GRCm39)	N618S	possibly damaging	Het
Tnrc6a	A	G	7: 122,785,888 (GRCm39)	D1028G	probably damaging	Het
Tns3	A	T	11: 8,385,860 (GRCm39)	D1379E	probably damaging	Het
Ttn	A	T	2: 76,580,505 (GRCm39)	C23463S	possibly damaging	Het
Ufl1	T	C	4: 25,250,619 (GRCm39)	T745A	probably benign	Het
Vmn1r231	T	A	17: 21,110,417 (GRCm39)	Y166F	possibly damaging	Het
Wbp1l	C	A	19: 46,642,869 (GRCm39)	T290K	probably damaging	Het
Wdr25	A	G	12: 108,864,392 (GRCm39)	N179S	probably benign	Het
Wdr62	G	A	7: 29,942,504 (GRCm39)	Q1035*	probably null	Het
Yif1a	C	T	19: 5,141,669 (GRCm39)	R196C	probably damaging	Het
Zfp352	A	T	4: 90,113,307 (GRCm39)	K482N	probably damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	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
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
R9551:Has2	UTSW	15	56,531,090 (GRCm39)	missense	probably benign	0.00
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'- ATACTGTATAGCCCCTTGAGGAG -3'
(R):5'- CTGCCAAGATGTTTGCAATTGC -3'

Sequencing Primer
(F):5'- CTGTATAGCCCCTTGAGGAGCTAAG -3'
(R):5'- TTGCAACCATAAACAAAGCTGGGTG -3'

Posted On

2017-02-28