Incidental Mutation 'R2966:Has2'
| ID |
264681 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Has2
|
| Ensembl Gene |
ENSMUSG00000022367 |
| Gene Name |
hyaluronan synthase 2 |
| Synonyms |
|
| MMRRC Submission |
040522-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2966 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
56529023-56557935 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56545533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 23
(L23P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050544]
|
| AlphaFold |
P70312 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050544
AA Change: L23P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062212
Gene: ENSMUSG00000022367
AA Change: L23P
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.0%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
C |
T |
7: 41,275,829 (GRCm39) |
R511* |
probably null |
Het |
| Adamts1 |
A |
G |
16: 85,593,662 (GRCm39) |
V691A |
possibly damaging |
Het |
| Add1 |
C |
A |
5: 34,788,058 (GRCm39) |
D702E |
probably benign |
Het |
| Ap1s1 |
T |
C |
5: 137,066,357 (GRCm39) |
D148G |
probably damaging |
Het |
| Asprv1 |
T |
A |
6: 86,605,348 (GRCm39) |
C65S |
probably damaging |
Het |
| Atp11a |
A |
T |
8: 12,897,853 (GRCm39) |
|
probably null |
Het |
| Atp8a1 |
T |
C |
5: 67,805,049 (GRCm39) |
D1022G |
probably benign |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Bnc2 |
G |
A |
4: 84,211,754 (GRCm39) |
A300V |
probably benign |
Het |
| Cep250 |
A |
G |
2: 155,836,798 (GRCm39) |
K2256E |
probably benign |
Het |
| Cfap300 |
C |
T |
9: 8,027,175 (GRCm39) |
R121Q |
probably damaging |
Het |
| Chrna2 |
T |
C |
14: 66,386,817 (GRCm39) |
V321A |
possibly damaging |
Het |
| Chsy1 |
G |
A |
7: 65,821,912 (GRCm39) |
G716R |
probably damaging |
Het |
| Col2a1 |
A |
G |
15: 97,873,976 (GRCm39) |
I1402T |
unknown |
Het |
| Ddx43 |
C |
A |
9: 78,313,661 (GRCm39) |
Y197* |
probably null |
Het |
| Dyrk2 |
T |
A |
10: 118,696,242 (GRCm39) |
K339* |
probably null |
Het |
| Fbxw21 |
A |
G |
9: 108,974,578 (GRCm39) |
I314T |
probably benign |
Het |
| Fgd6 |
T |
A |
10: 93,880,056 (GRCm39) |
F303L |
probably benign |
Het |
| Fstl3 |
T |
C |
10: 79,617,057 (GRCm39) |
V200A |
probably benign |
Het |
| Gabra5 |
T |
C |
7: 57,058,389 (GRCm39) |
E453G |
probably damaging |
Het |
| Gatd1 |
T |
A |
7: 140,989,080 (GRCm39) |
D193V |
probably damaging |
Het |
| Gm6871 |
T |
G |
7: 41,222,864 (GRCm39) |
T75P |
probably benign |
Het |
| Gpr45 |
G |
A |
1: 43,071,668 (GRCm39) |
D104N |
possibly damaging |
Het |
| Lrriq1 |
A |
G |
10: 103,050,761 (GRCm39) |
S664P |
probably benign |
Het |
| Ltf |
G |
T |
9: 110,857,540 (GRCm39) |
C443F |
possibly damaging |
Het |
| Mgam |
T |
C |
6: 40,745,154 (GRCm39) |
V1807A |
possibly damaging |
Het |
| Myh1 |
A |
G |
11: 67,105,410 (GRCm39) |
K1067E |
probably damaging |
Het |
| Nav2 |
C |
T |
7: 49,206,780 (GRCm39) |
T1535I |
probably damaging |
Het |
| Noa1 |
T |
C |
5: 77,454,191 (GRCm39) |
E483G |
possibly damaging |
Het |
| Nsd2 |
G |
C |
5: 34,003,466 (GRCm39) |
E205D |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,731,164 (GRCm39) |
L3222P |
unknown |
Het |
| Pnpla2 |
C |
T |
7: 141,038,391 (GRCm39) |
L215F |
probably damaging |
Het |
| Prss35 |
A |
G |
9: 86,637,635 (GRCm39) |
D135G |
probably damaging |
Het |
| Pth |
T |
C |
7: 112,985,136 (GRCm39) |
H79R |
probably benign |
Het |
| Rab21 |
T |
C |
10: 115,130,814 (GRCm39) |
N164S |
probably benign |
Het |
| Rasal1 |
T |
A |
5: 120,809,685 (GRCm39) |
L530Q |
probably damaging |
Het |
| Rbm15b |
A |
G |
9: 106,762,791 (GRCm39) |
L459P |
probably damaging |
Het |
| Recql |
A |
G |
6: 142,309,313 (GRCm39) |
V586A |
probably benign |
Het |
| Rprd2 |
A |
T |
3: 95,673,745 (GRCm39) |
|
probably null |
Het |
| Sis |
T |
A |
3: 72,796,343 (GRCm39) |
I1813L |
probably benign |
Het |
| Slc4a5 |
C |
T |
6: 83,273,651 (GRCm39) |
T997I |
probably damaging |
Het |
| Sympk |
T |
C |
7: 18,764,469 (GRCm39) |
V58A |
probably damaging |
Het |
| Trav7d-4 |
C |
T |
14: 53,007,584 (GRCm39) |
Q26* |
probably null |
Het |
| Usp48 |
G |
A |
4: 137,341,073 (GRCm39) |
V358M |
probably damaging |
Het |
| Vmn1r39 |
A |
C |
6: 66,781,715 (GRCm39) |
I201S |
possibly damaging |
Het |
| Zcchc8 |
A |
G |
5: 123,858,930 (GRCm39) |
S22P |
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 |
|
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'- TAATCGGGGTTTCAAGGGAC -3'
(R):5'- GTGCTACAATTCCTGAATGCTG -3'
Sequencing Primer
(F):5'- AGGGACTTCTTCATTTTCCGG -3'
(R):5'- AGCAAGTCCTATTCCTAGCTGGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation