Incidental Mutation 'IGL02894:Hapln3'
ID 363324
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hapln3
Ensembl Gene ENSMUSG00000030606
Gene Name hyaluronan and proteoglycan link protein 3
Synonyms Lpr3, 4930554N11Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock # IGL02894
Quality Score
Status
Chromosome 7
Chromosomal Location 79115102-79131018 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 79121773 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 123 (Q123K)
Ref Sequence ENSEMBL: ENSMUSP00000145726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032827] [ENSMUST00000205782] [ENSMUST00000206092]
AlphaFold Q80WM5
Predicted Effect probably benign
Transcript: ENSMUST00000032827
SMART Domains Protein: ENSMUSP00000032827
Gene: ENSMUSG00000030606

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
IGv 65 148 3.28e-8 SMART
LINK 164 261 1.78e-46 SMART
LINK 265 357 3.14e-47 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205782
AA Change: Q123K

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000206092
AA Change: Q123K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206402
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the hyaluronan and proteoglycan binding link protein gene family. The protein encoded by this gene may function in hyaluronic acid binding and cell adhesion. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130204L05Rik A T 3: 91,088,393 F67L probably benign Het
A630023A22Rik T A 14: 34,054,860 probably benign Het
AF529169 T G 9: 89,603,102 I81L probably damaging Het
Aurka T A 2: 172,366,948 probably null Het
Cacna2d3 C T 14: 29,064,319 probably null Het
Cdh12 A G 15: 21,586,294 Y733C probably damaging Het
Cdon A T 9: 35,455,426 E199D probably benign Het
Celsr2 A T 3: 108,395,210 L558Q probably damaging Het
Clcnkb C A 4: 141,407,819 R536L probably benign Het
Cyp3a11 G A 5: 145,869,026 Q151* probably null Het
Dnah7a A T 1: 53,577,328 V1158E probably benign Het
Dnah8 G T 17: 30,721,110 E1677* probably null Het
Dock3 T C 9: 106,930,099 N1343S probably benign Het
Dock6 T A 9: 21,811,815 E1603D probably damaging Het
Fam91a1 C T 15: 58,443,231 T589M probably benign Het
Fat2 T A 11: 55,256,653 N3921I probably damaging Het
Gm10188 A G 1: 132,229,299 probably benign Het
Grid2ip A G 5: 143,391,108 E976G probably benign Het
Hnrnpul1 G A 7: 25,750,904 P128S possibly damaging Het
Hsd3b1 T A 3: 98,852,929 I249F possibly damaging Het
Kbtbd3 A T 9: 4,331,444 H606L probably benign Het
Krt82 T C 15: 101,542,720 Y418C probably damaging Het
Mcm3ap C A 10: 76,477,767 A565E probably benign Het
Naip2 C T 13: 100,183,789 V240I probably benign Het
Naip2 A G 13: 100,160,997 S844P probably damaging Het
Notch2 T A 3: 98,102,432 C558* probably null Het
Npdc1 T A 2: 25,407,995 H185Q probably benign Het
Olfr1164 T C 2: 88,093,763 I58V possibly damaging Het
Olfr1183 T G 2: 88,461,726 Y148D probably damaging Het
Olfr447 A T 6: 42,911,517 probably benign Het
Osbpl3 A T 6: 50,346,332 I257N possibly damaging Het
Pkd1l2 T A 8: 117,013,891 T2156S probably damaging Het
Ppp1r13b A G 12: 111,831,454 probably benign Het
Ppp3ca C A 3: 136,797,812 H49N probably damaging Het
Prrc2c A T 1: 162,678,057 L1100I probably damaging Het
Ptpn21 A C 12: 98,689,632 probably benign Het
Ptpn7 A T 1: 135,143,168 M332L probably damaging Het
Ptprq T A 10: 107,667,424 Q791L probably benign Het
Ptprz1 G A 6: 23,035,149 R1966H probably damaging Het
Ralgapa1 T A 12: 55,717,069 Q1404L possibly damaging Het
Reln C A 5: 21,885,548 M3437I possibly damaging Het
Slc13a1 T C 6: 24,137,042 probably benign Het
Slc4a11 T C 2: 130,687,155 probably null Het
Slc9a2 A G 1: 40,763,602 E604G probably benign Het
Sod3 T G 5: 52,368,006 S16A possibly damaging Het
Taok3 A G 5: 117,263,613 I650V probably benign Het
Uggt2 T C 14: 119,081,799 I270M probably damaging Het
Ugt3a2 T A 15: 9,367,401 I410N probably damaging Het
Ush2a G A 1: 188,451,846 S1449N probably damaging Het
Usp29 A T 7: 6,961,634 M159L probably benign Het
Vmn1r122 A T 7: 21,133,724 F135L probably benign Het
Wdr11 T C 7: 129,631,166 probably benign Het
Zc3h14 T A 12: 98,758,943 probably null Het
Zfp955a A T 17: 33,242,452 C235* probably null Het
Other mutations in Hapln3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Hapln3 APN 7 79121983 missense probably damaging 1.00
IGL01412:Hapln3 APN 7 79117436 splice site probably null
IGL02141:Hapln3 APN 7 79118145 missense probably damaging 0.99
IGL02675:Hapln3 APN 7 79117848 critical splice donor site probably null
IGL02864:Hapln3 APN 7 79118064 missense probably benign 0.03
R1271:Hapln3 UTSW 7 79118016 missense probably damaging 1.00
R1337:Hapln3 UTSW 7 79118076 missense probably benign 0.06
R1351:Hapln3 UTSW 7 79121960 missense probably damaging 1.00
R1686:Hapln3 UTSW 7 79121890 missense probably benign 0.13
R1718:Hapln3 UTSW 7 79123450 missense unknown
R3103:Hapln3 UTSW 7 79121736 missense probably benign 0.07
R5625:Hapln3 UTSW 7 79117258 splice site probably null
R5669:Hapln3 UTSW 7 79117496 splice site probably null
R5862:Hapln3 UTSW 7 79121891 missense possibly damaging 0.84
R5875:Hapln3 UTSW 7 79121973 missense probably benign 0.03
R7129:Hapln3 UTSW 7 79121824 missense probably damaging 1.00
R7439:Hapln3 UTSW 7 79117269 missense probably benign 0.00
R7713:Hapln3 UTSW 7 79117373 missense probably benign 0.00
R8894:Hapln3 UTSW 7 79117491 missense probably benign 0.00
R8896:Hapln3 UTSW 7 79117491 missense probably benign 0.00
R8933:Hapln3 UTSW 7 79117630 unclassified probably benign
R9114:Hapln3 UTSW 7 79121964 missense probably benign 0.00
R9367:Hapln3 UTSW 7 79121707 missense probably damaging 0.98
Posted On 2015-12-18