Mutagenetix > Incidental Mutation

Incidental Mutation 'R2012:Has2'

220040

Institutional Source

Beutler Lab

Gene Symbol

Has2

Ensembl Gene

ENSMUSG00000022367

Gene Name

hyaluronan synthase 2

Synonyms

MMRRC Submission

040021-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2012 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56529023-56557935 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56531264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 484 (W484R)

Ref Sequence

ENSEMBL: ENSMUSP00000062212 (fasta)

Gene Model

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

AlphaFold

P70312

Predicted Effect

probably damaging
Transcript: ENSMUST00000050544
AA Change: W484R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000062212
Gene: ENSMUSG00000022367
AA Change: W484R

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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.6%

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	T	5: 8,167,634 (GRCm39)	S675R	probably damaging	Het
Akap5	A	T	12: 76,376,122 (GRCm39)	H518L	possibly damaging	Het
Ankfn1	T	C	11: 89,296,423 (GRCm39)	D102G	probably damaging	Het
Aox3	A	T	1: 58,177,391 (GRCm39)	Y202F	probably benign	Het
Arhgef37	G	A	18: 61,637,427 (GRCm39)	L412F	possibly damaging	Het
B4galt3	C	T	1: 171,100,118 (GRCm39)	P121L	probably damaging	Het
BC034090	C	T	1: 155,097,178 (GRCm39)	R640Q	probably damaging	Het
Bhmt	A	T	13: 93,761,900 (GRCm39)	Y128N	probably damaging	Het
Bin3	A	G	14: 70,372,222 (GRCm39)	E173G	probably damaging	Het
C1qtnf1	T	A	11: 118,339,110 (GRCm39)	F260Y	probably benign	Het
Ccdc14	G	T	16: 34,511,092 (GRCm39)	G22V	possibly damaging	Het
Ccnc	A	T	4: 21,741,955 (GRCm39)	I135L	possibly damaging	Het
Chd3	T	C	11: 69,239,878 (GRCm39)	D1650G	probably benign	Het
Cherp	A	C	8: 73,228,613 (GRCm39)	N14K	probably damaging	Het
Clint1	C	T	11: 45,784,919 (GRCm39)	T306I	possibly damaging	Het
Cyb5r1	T	A	1: 134,335,315 (GRCm39)	Y85N	probably damaging	Het
D830013O20Rik	A	G	12: 73,418,162 (GRCm39)		noncoding transcript	Het
Dapk1	A	T	13: 60,869,671 (GRCm39)	K304N	probably damaging	Het
Dnah6	T	A	6: 73,044,449 (GRCm39)	N3169Y	probably damaging	Het
Dync2h1	A	T	9: 7,169,589 (GRCm39)	I296K	probably benign	Het
Elp2	A	T	18: 24,764,515 (GRCm39)	T621S	probably benign	Het
Eml6	G	T	11: 29,781,128 (GRCm39)	Q635K	possibly damaging	Het
Exph5	G	A	9: 53,278,466 (GRCm39)	M192I	possibly damaging	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Gas6	C	T	8: 13,518,266 (GRCm39)	V523M	probably damaging	Het
Ggn	A	T	7: 28,873,188 (GRCm39)		probably null	Het
Gimap8	A	G	6: 48,633,287 (GRCm39)	T369A	probably damaging	Het
Grm5	T	C	7: 87,724,080 (GRCm39)	I790T	probably damaging	Het
Gtpbp6	G	A	5: 110,252,790 (GRCm39)	A354V	probably damaging	Het
Habp4	G	A	13: 64,317,995 (GRCm39)		probably null	Het
Herc4	G	T	10: 63,079,817 (GRCm39)		probably benign	Het
Igf2	C	A	7: 142,208,136 (GRCm39)	E106D	probably damaging	Het
Il17rb	A	T	14: 29,718,797 (GRCm39)	C428*	probably null	Het
Ipo11	A	T	13: 107,056,130 (GRCm39)	N47K	probably benign	Het
Itga4	T	G	2: 79,108,138 (GRCm39)	S197A	probably damaging	Het
Itpr1	T	A	6: 108,417,497 (GRCm39)	M1788K	probably benign	Het
Kbtbd3	C	T	9: 4,330,919 (GRCm39)	T431I	probably benign	Het
Kif5a	A	T	10: 127,075,044 (GRCm39)	V523E	probably benign	Het
Klhl41	A	T	2: 69,513,840 (GRCm39)	D573V	possibly damaging	Het
Kndc1	C	A	7: 139,501,196 (GRCm39)	H828Q	possibly damaging	Het
Leng8	T	A	7: 4,146,609 (GRCm39)	V407D	probably damaging	Het
Mamdc2	C	T	19: 23,288,215 (GRCm39)	E608K	probably benign	Het
Mcf2	T	A	X: 59,122,574 (GRCm39)	R850S	probably damaging	Het
Mmp2	A	G	8: 93,576,831 (GRCm39)	N618S	probably benign	Het
Morn5	A	T	2: 35,942,950 (GRCm39)	M17L	probably benign	Het
Nme8	T	C	13: 19,881,053 (GRCm39)	N26S	probably damaging	Het
Nostrin	C	A	2: 68,975,111 (GRCm39)		probably null	Het
Npy4r	T	A	14: 33,869,154 (GRCm39)	I45F	possibly damaging	Het
Or13a21	T	A	7: 139,999,024 (GRCm39)	I221F	probably damaging	Het
Or1j11	A	G	2: 36,311,931 (GRCm39)	I174V	probably benign	Het
Or2aj5	C	T	16: 19,424,881 (GRCm39)	C179Y	probably benign	Het
Or2w1	T	A	13: 21,317,659 (GRCm39)	M238K	probably benign	Het
Or2w3b	T	C	11: 58,623,214 (GRCm39)	Y259C	possibly damaging	Het
Or4a70	A	G	2: 89,324,342 (GRCm39)	F105L	probably benign	Het
Or5d36	A	G	2: 87,901,063 (GRCm39)	V221A	probably benign	Het
Oxt	A	G	2: 130,418,572 (GRCm39)	D61G	probably damaging	Het
Patl1	T	C	19: 11,917,181 (GRCm39)	L676P	probably damaging	Het
Pcdhb20	G	A	18: 37,638,127 (GRCm39)	G218R	probably damaging	Het
Pdgfrb	T	A	18: 61,194,566 (GRCm39)	S114R	probably benign	Het
Pfdn5	A	G	15: 102,234,956 (GRCm39)	N54S	possibly damaging	Het
Phldb1	G	T	9: 44,639,333 (GRCm39)	T15N	possibly damaging	Het
Pink1	A	C	4: 138,045,316 (GRCm39)	S253A	probably null	Het
Plag1	A	T	4: 3,904,870 (GRCm39)	L107Q	probably damaging	Het
Pld5	C	A	1: 175,791,579 (GRCm39)	V476L	probably benign	Het
Pramel28	A	T	4: 143,692,637 (GRCm39)	D121E	probably benign	Het
Prrt2	C	T	7: 126,618,581 (GRCm39)	A295T	probably damaging	Het
Ptgs1	A	G	2: 36,127,668 (GRCm39)	I76V	probably benign	Het
Ptprz1	A	G	6: 23,001,026 (GRCm39)	T1039A	probably benign	Het
Rbm20	G	A	19: 53,847,859 (GRCm39)	C1135Y	probably damaging	Het
Recql5	A	T	11: 115,787,923 (GRCm39)	N465K	probably benign	Het
Rgs12	A	G	5: 35,187,872 (GRCm39)	S510G	probably benign	Het
Satb1	G	A	17: 52,089,816 (GRCm39)	Q344*	probably null	Het
Sdr16c5	A	G	4: 3,996,244 (GRCm39)	I283T	probably benign	Het
Serpinb3c	T	C	1: 107,199,574 (GRCm39)	S316G	possibly damaging	Het
Siglec1	A	T	2: 130,925,277 (GRCm39)	Y395N	probably damaging	Het
Simc1	A	G	13: 54,651,701 (GRCm39)	I5V	probably benign	Het
Slc27a2	T	C	2: 126,395,535 (GRCm39)	V154A	probably damaging	Het
Slc27a5	A	G	7: 12,731,634 (GRCm39)	L119S	probably damaging	Het
Slc35g2	T	A	9: 100,435,120 (GRCm39)	T184S	possibly damaging	Het
Slc4a7	C	T	14: 14,733,727 (GRCm38)	R46*	probably null	Het
Smcr8	T	C	11: 60,669,010 (GRCm39)	F53L	probably damaging	Het
Spag9	T	A	11: 93,983,201 (GRCm39)	L504*	probably null	Het
Spata31d1a	A	G	13: 59,850,370 (GRCm39)	I586T	possibly damaging	Het
Spata31d1c	A	T	13: 65,183,041 (GRCm39)	E194D	possibly damaging	Het
Spats2	A	G	15: 99,076,375 (GRCm39)	E151G	probably damaging	Het
Sugp2	T	A	8: 70,695,861 (GRCm39)	L278Q	possibly damaging	Het
Sult2a7	T	A	7: 14,207,322 (GRCm39)		probably benign	Het
Syde2	G	T	3: 145,694,163 (GRCm39)	G137V	possibly damaging	Het
Synj1	A	T	16: 90,735,584 (GRCm39)	F1456L	probably damaging	Het
Szt2	A	G	4: 118,220,862 (GRCm39)		probably benign	Het
Timd4	C	A	11: 46,710,857 (GRCm39)	T253K	possibly damaging	Het
Tlr3	G	T	8: 45,855,823 (GRCm39)	T119N	possibly damaging	Het
Tmc6	A	G	11: 117,660,232 (GRCm39)	Y669H	probably damaging	Het
Tmem221	T	C	8: 72,008,458 (GRCm39)	E194G	probably benign	Het
Tmem232	C	A	17: 65,807,167 (GRCm39)	V9F	probably benign	Het
Tpm1	G	A	9: 66,941,247 (GRCm39)	Q135*	probably null	Het
Trank1	A	G	9: 111,194,096 (GRCm39)	T707A	probably benign	Het
Trpm7	A	T	2: 126,665,917 (GRCm39)	Y896*	probably null	Het
Tuba4a	A	T	1: 75,192,983 (GRCm39)	Y210*	probably null	Het
Tut7	A	G	13: 59,959,352 (GRCm39)	V372A	probably damaging	Het
Vegfa	T	G	17: 46,336,284 (GRCm39)	I279L	probably benign	Het
Vmn2r54	T	A	7: 12,349,804 (GRCm39)	T593S	probably damaging	Het
Vmn2r93	A	G	17: 18,536,840 (GRCm39)	I508V	probably benign	Het
Vps33a	G	T	5: 123,669,244 (GRCm39)		probably null	Het
Wasl	T	A	6: 24,624,360 (GRCm39)	N231I	probably damaging	Het
Zbtb39	A	G	10: 127,578,703 (GRCm39)	N426D	probably benign	Het
Zeb2	T	G	2: 44,887,962 (GRCm39)	H350P	probably damaging	Het
Zfp112	T	C	7: 23,824,725 (GRCm39)	F231S	possibly damaging	Het
Zfp180	T	C	7: 23,803,943 (GRCm39)	S121P	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
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
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'- AGCACCATGTCATACTGTTGTC -3'
(R):5'- AGCTAGTGGGTCTCATCAAGTC -3'

Sequencing Primer
(F):5'- ACCATGTCATACTGTTGTCCCTTC -3'
(R):5'- TGCCAGCTGCCTTAGAGGAAATATC -3'

Posted On

2014-08-25