Incidental Mutation 'IGL01690:Impg2'
ID104077
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Impg2
Ensembl Gene ENSMUSG00000035270
Gene Nameinterphotoreceptor matrix proteoglycan 2
SynonymsIPM200, Spacrcan, PG10.2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.088) question?
Stock #IGL01690
Quality Score
Status
Chromosome16
Chromosomal Location56204313-56273756 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 56205205 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 67 (R67G)
Ref Sequence ENSEMBL: ENSMUSP00000125135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069936] [ENSMUST00000160116]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000069778
Predicted Effect probably benign
Transcript: ENSMUST00000069936
AA Change: R67G

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000063648
Gene: ENSMUSG00000035270
AA Change: R67G

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 66 74 N/A INTRINSIC
low complexity region 207 220 N/A INTRINSIC
SEA 235 345 7.7e-29 SMART
low complexity region 396 407 N/A INTRINSIC
low complexity region 419 444 N/A INTRINSIC
SEA 895 1018 2.18e-28 SMART
EGF_like 1016 1054 3.57e1 SMART
EGF_like 1056 1096 3.04e1 SMART
transmembrane domain 1105 1127 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000160116
AA Change: R67G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125135
Gene: ENSMUSG00000035270
AA Change: R67G

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 66 74 N/A INTRINSIC
low complexity region 207 220 N/A INTRINSIC
SEA 235 345 7.7e-29 SMART
SEA 786 909 2.18e-28 SMART
EGF_like 907 945 3.57e1 SMART
EGF_like 947 987 3.04e1 SMART
transmembrane domain 996 1018 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds chondroitin sulfate and hyaluronan and is a proteoglycan. The encoded protein plays a role in the organization of the interphotoreceptor matrix and may promote the growth and maintenance of the light-sensitive photoreceptor outer segment. Defects in this gene are a cause of retinitis pigmentosa type 56 and maculopathy, IMPG2-related.[provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012P22Rik G A 4: 144,438,528 T26M probably damaging Het
4931429P17Rik A G 13: 47,960,970 noncoding transcript Het
Agap2 T C 10: 127,082,958 probably benign Het
Bicra G A 7: 15,987,753 T613I probably benign Het
Cd163 T C 6: 124,307,318 S150P possibly damaging Het
F830045P16Rik T G 2: 129,472,694 Q221P probably damaging Het
Fam129a C A 1: 151,703,804 R425S probably damaging Het
Fam135b T A 15: 71,456,935 M1172L probably benign Het
Fbxo2 G T 4: 148,165,124 probably null Het
Frem1 C T 4: 82,959,296 probably benign Het
Galnt17 C T 5: 131,085,896 probably null Het
Gipc2 A G 3: 152,128,134 I170T probably damaging Het
Gm2399 C T 13: 12,702,528 noncoding transcript Het
Hdac10 T A 15: 89,125,991 M283L probably benign Het
Icam5 A G 9: 21,034,799 E309G possibly damaging Het
Igkv3-5 T A 6: 70,663,881 S115R probably benign Het
Kansl1l T C 1: 66,801,073 Y356C probably damaging Het
Ly75 T C 2: 60,338,311 D751G probably damaging Het
Lyst A G 13: 13,743,246 D3297G probably damaging Het
Mall A G 2: 127,729,779 F30L probably benign Het
Map1b C T 13: 99,435,004 G403D probably damaging Het
Mmp11 T C 10: 75,926,896 Y241C probably damaging Het
Olfr1245 A G 2: 89,575,213 V171A probably benign Het
Pcnt C T 10: 76,392,775 A1519T probably damaging Het
Pcsk2 A G 2: 143,687,570 M96V probably benign Het
Piwil4 T C 9: 14,703,095 D124G probably damaging Het
Plb1 A T 5: 32,313,697 I538F probably damaging Het
Polq A G 16: 37,062,838 D1788G probably damaging Het
Pus7 A G 5: 23,775,964 S134P probably damaging Het
Sec61a2 G A 2: 5,886,552 S56L possibly damaging Het
Sel1l G T 12: 91,843,259 D26E probably benign Het
Slc25a48 G A 13: 56,464,945 probably benign Het
Tas2r126 T C 6: 42,435,307 F258S probably benign Het
Tnfrsf13b G A 11: 61,141,320 V59I possibly damaging Het
Ttc30a1 A G 2: 75,979,933 V602A probably benign Het
Usp6nl G A 2: 6,441,068 V619M probably benign Het
Vmn1r67 A G 7: 10,446,840 I10M possibly damaging Het
Vmn2r71 A G 7: 85,615,574 D38G probably damaging Het
Other mutations in Impg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00542:Impg2 APN 16 56261605 nonsense probably null
IGL01097:Impg2 APN 16 56260647 critical splice donor site probably null
IGL01115:Impg2 APN 16 56259440 missense possibly damaging 0.61
IGL01545:Impg2 APN 16 56225717 splice site probably benign
IGL01644:Impg2 APN 16 56259870 missense probably benign 0.04
IGL01781:Impg2 APN 16 56252225 missense probably benign 0.21
IGL01801:Impg2 APN 16 56236748 missense probably damaging 0.97
IGL01980:Impg2 APN 16 56221527 missense probably damaging 0.99
IGL02059:Impg2 APN 16 56259972 missense probably damaging 1.00
IGL02140:Impg2 APN 16 56259468 missense probably benign 0.05
IGL02206:Impg2 APN 16 56259597 missense possibly damaging 0.92
IGL02245:Impg2 APN 16 56269082 missense probably damaging 0.96
IGL02584:Impg2 APN 16 56265011 missense probably damaging 1.00
IGL03061:Impg2 APN 16 56268416 missense probably damaging 1.00
IGL03123:Impg2 APN 16 56267122 missense probably damaging 1.00
IGL03280:Impg2 APN 16 56268268 nonsense probably null
R0051:Impg2 UTSW 16 56258048 missense probably damaging 1.00
R0117:Impg2 UTSW 16 56261642 missense probably damaging 0.99
R0193:Impg2 UTSW 16 56265049 nonsense probably null
R0270:Impg2 UTSW 16 56269015 missense possibly damaging 0.88
R0326:Impg2 UTSW 16 56260485 missense probably damaging 1.00
R0330:Impg2 UTSW 16 56252264 missense probably damaging 0.99
R0812:Impg2 UTSW 16 56257939 intron probably benign
R1074:Impg2 UTSW 16 56265178 splice site probably benign
R1283:Impg2 UTSW 16 56257939 intron probably benign
R1618:Impg2 UTSW 16 56259858 missense probably damaging 0.97
R1708:Impg2 UTSW 16 56265078 missense probably benign 0.10
R1713:Impg2 UTSW 16 56260526 missense probably benign 0.25
R1827:Impg2 UTSW 16 56267220 missense possibly damaging 0.62
R1853:Impg2 UTSW 16 56260277 missense probably damaging 1.00
R2064:Impg2 UTSW 16 56243630 critical splice donor site probably null
R2100:Impg2 UTSW 16 56231385 splice site probably null
R2125:Impg2 UTSW 16 56265064 missense probably damaging 1.00
R2128:Impg2 UTSW 16 56218379 missense probably damaging 1.00
R2195:Impg2 UTSW 16 56260134 missense probably benign 0.39
R2247:Impg2 UTSW 16 56268264 missense probably damaging 0.97
R2366:Impg2 UTSW 16 56259873 missense probably benign 0.04
R2411:Impg2 UTSW 16 56252154 missense probably damaging 1.00
R4193:Impg2 UTSW 16 56268411 missense probably benign 0.00
R4356:Impg2 UTSW 16 56260164 missense probably damaging 1.00
R4424:Impg2 UTSW 16 56260025 missense possibly damaging 0.56
R4575:Impg2 UTSW 16 56261732 missense probably damaging 1.00
R4766:Impg2 UTSW 16 56257939 intron probably benign
R5024:Impg2 UTSW 16 56260100 missense probably damaging 0.97
R5278:Impg2 UTSW 16 56221517 missense probably benign 0.06
R5383:Impg2 UTSW 16 56243626 missense probably benign 0.03
R5766:Impg2 UTSW 16 56259820 missense possibly damaging 0.73
R5909:Impg2 UTSW 16 56258136 missense probably damaging 0.99
R6525:Impg2 UTSW 16 56205149 missense probably damaging 1.00
R6684:Impg2 UTSW 16 56259929 missense probably benign 0.33
R6692:Impg2 UTSW 16 56252333 missense probably damaging 1.00
R6711:Impg2 UTSW 16 56265086 missense probably damaging 1.00
R6909:Impg2 UTSW 16 56204584 missense probably damaging 0.97
R6959:Impg2 UTSW 16 56268330 missense probably benign 0.01
R7226:Impg2 UTSW 16 56267104 nonsense probably null
R7456:Impg2 UTSW 16 56259913 missense probably benign 0.03
R7528:Impg2 UTSW 16 56260380 missense possibly damaging 0.86
R7532:Impg2 UTSW 16 56267180 missense probably damaging 0.96
R7601:Impg2 UTSW 16 56260031 missense probably benign 0.22
X0023:Impg2 UTSW 16 56259876 missense probably benign 0.05
Posted On2014-01-21