Incidental Mutation 'IGL02245:Impg2'
ID286148
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: 0.082) question?
Stock #IGL02245
Quality Score
Status
Chromosome16
Chromosomal Location56204313-56273756 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 56269082 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 1130 (Q1130R)
Ref Sequence ENSEMBL: ENSMUSP00000125135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069936] [ENSMUST00000160116]
Predicted Effect possibly damaging
Transcript: ENSMUST00000069936
AA Change: Q1239R

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000063648
Gene: ENSMUSG00000035270
AA Change: Q1239R

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 noncoding transcript
Transcript: ENSMUST00000159842
Predicted Effect probably damaging
Transcript: ENSMUST00000160116
AA Change: Q1130R

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125135
Gene: ENSMUSG00000035270
AA Change: Q1130R

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,659,815 I1398V probably benign Het
Abca5 G A 11: 110,298,169 Q821* probably null Het
Bcl9 A T 3: 97,208,693 L895Q probably damaging Het
Cpne7 A G 8: 123,117,618 D41G probably damaging Het
Daxx A G 17: 33,912,377 probably benign Het
Dbx2 A G 15: 95,624,747 Y360H probably damaging Het
Dpy19l2 T C 9: 24,696,025 T47A probably benign Het
Ephb3 T C 16: 21,221,424 V512A probably benign Het
Exoc2 T C 13: 30,906,859 D254G probably benign Het
Gtpbp1 G T 15: 79,690,926 R7L probably benign Het
Gucy2c A T 6: 136,729,203 I500N probably benign Het
Hist1h2ac A T 13: 23,683,800 Y40N probably damaging Het
Hist1h2ac G T 13: 23,683,801 N39K possibly damaging Het
Hormad2 T C 11: 4,408,580 probably benign Het
Itga4 T A 2: 79,320,559 D836E probably benign Het
Loxhd1 A T 18: 77,340,101 T456S possibly damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Map1b T C 13: 99,431,528 T1562A unknown Het
Mre11a C T 9: 14,815,276 probably benign Het
Myh1 A C 11: 67,211,487 E868A possibly damaging Het
Nlrp4e T G 7: 23,320,875 S262R probably damaging Het
Nlrp9a C T 7: 26,557,893 T223I probably benign Het
Nosip A G 7: 45,074,042 D44G probably benign Het
Nr6a1 C T 2: 38,740,553 M217I probably benign Het
Numa1 A G 7: 102,000,394 T1111A probably benign Het
Olfr804 T A 10: 129,705,739 I287N probably damaging Het
Pms1 A G 1: 53,207,360 L340P probably damaging Het
Prmt7 T C 8: 106,237,305 V277A probably benign Het
Pxmp4 T C 2: 154,587,950 Y173C probably damaging Het
Rbm11 G T 16: 75,593,008 V21L possibly damaging Het
Rims1 A G 1: 22,346,488 S1123P probably damaging Het
Rnf220 C T 4: 117,299,537 probably benign Het
Rnf41 T G 10: 128,437,327 *123G probably null Het
Samhd1 C T 2: 157,110,555 D426N possibly damaging Het
Scn10a A G 9: 119,672,152 W189R probably damaging Het
Slco1a6 A G 6: 142,109,424 F265L probably damaging Het
Spag16 A G 1: 69,858,502 D137G probably benign Het
Srsf12 G A 4: 33,209,103 probably benign Het
Suclg2 A G 6: 95,595,741 I81T possibly damaging Het
Tmc1 C T 19: 20,799,192 R601H probably damaging Het
Trim33 T C 3: 103,346,770 probably null Het
Vit A G 17: 78,625,051 D529G probably damaging Het
Wbp1l C T 19: 46,654,618 H353Y possibly damaging Het
Wdr70 A T 15: 8,046,482 V170D possibly damaging Het
Ythdc2 T A 18: 44,862,684 I947N possibly damaging Het
Zfp280b T C 10: 76,039,363 S359P probably benign Het
Zfp936 T C 7: 43,187,298 probably null Het
Zscan4d T A 7: 11,162,789 Y218F probably benign 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
IGL01690:Impg2 APN 16 56205205 missense probably damaging 0.97
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
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
R7803:Impg2 UTSW 16 56267150 missense probably damaging 0.99
R8063:Impg2 UTSW 16 56261456 intron probably benign
R8251:Impg2 UTSW 16 56259597 missense possibly damaging 0.92
R8292:Impg2 UTSW 16 56260626 missense probably damaging 1.00
R8481:Impg2 UTSW 16 56252266 missense possibly damaging 0.76
R8524:Impg2 UTSW 16 56218394 missense probably benign 0.03
R8782:Impg2 UTSW 16 56259455 missense probably damaging 0.99
R8795:Impg2 UTSW 16 56260248 missense probably benign 0.25
R8901:Impg2 UTSW 16 56252165 missense probably damaging 1.00
X0023:Impg2 UTSW 16 56259876 missense probably benign 0.05
Posted On2015-04-16