Incidental Mutation 'R4592:Impg1'
ID 342909
Institutional Source Beutler Lab
Gene Symbol Impg1
Ensembl Gene ENSMUSG00000032343
Gene Name interphotoreceptor matrix proteoglycan 1
Synonyms SPACR, A930015H12Rik, IMP150
MMRRC Submission 041808-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R4592 (G1)
Quality Score 213
Status Validated
Chromosome 9
Chromosomal Location 80220612-80347534 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80322907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 33 (I33F)
Ref Sequence ENSEMBL: ENSMUSP00000108876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085289] [ENSMUST00000113250] [ENSMUST00000185068]
AlphaFold Q8R1W8
Predicted Effect probably benign
Transcript: ENSMUST00000085289
SMART Domains Protein: ENSMUSP00000082395
Gene: ENSMUSG00000032343

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
SEA 158 273 8.68e-1 SMART
low complexity region 353 374 N/A INTRINSIC
SEA 494 616 1.37e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113250
AA Change: I33F

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000108876
Gene: ENSMUSG00000032343
AA Change: I33F

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
SEA 235 350 8.68e-1 SMART
low complexity region 430 451 N/A INTRINSIC
SEA 571 693 1.37e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185068
SMART Domains Protein: ENSMUSP00000139151
Gene: ENSMUSG00000032343

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:SEA 157 216 1.2e-13 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (64/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a major component of the retinal interphotoreceptor matrix. The encoded protein is a proteoglycan that is thought to play a role in maintaining viability of photoreceptor cells and in adhesion of the neural retina to the retinal pigment epithelium. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T A 4: 62,457,164 (GRCm39) V161E possibly damaging Het
Arhgap40 T C 2: 158,388,629 (GRCm39) V521A possibly damaging Het
Atrn T C 2: 130,841,050 (GRCm39) probably benign Het
Casp12 T C 9: 5,352,923 (GRCm39) probably benign Het
Cenpf G A 1: 189,411,230 (GRCm39) T318M probably damaging Het
Cfap119 C T 7: 127,184,663 (GRCm39) R172H probably benign Het
Clcn2 T C 16: 20,527,892 (GRCm39) K525E probably damaging Het
Cntln A G 4: 84,889,419 (GRCm39) T301A probably benign Het
Crat T C 2: 30,305,378 (GRCm39) probably benign Het
Cul5 A G 9: 53,545,027 (GRCm39) probably benign Het
Cxcl14 A T 13: 56,443,708 (GRCm39) I34N probably damaging Het
Cyp2b19 A G 7: 26,470,819 (GRCm39) I487V probably benign Het
Cyp4a10 T A 4: 115,386,690 (GRCm39) F446I probably damaging Het
D430041D05Rik T A 2: 104,063,824 (GRCm39) M659L possibly damaging Het
Dclk3 T C 9: 111,296,963 (GRCm39) F169S probably damaging Het
Ddx52 T C 11: 83,848,306 (GRCm39) I532T probably damaging Het
Dnm1 T C 2: 32,226,023 (GRCm39) D352G probably damaging Het
Eif4g2 T C 7: 110,677,509 (GRCm39) E174G probably damaging Het
Enpp6 G T 8: 47,546,067 (GRCm39) V386L probably damaging Het
Entr1 C A 2: 26,278,909 (GRCm39) probably benign Het
Eps15l1 T C 8: 73,095,238 (GRCm39) D904G probably damaging Het
Esrrb A G 12: 86,565,604 (GRCm39) Y356C probably damaging Het
Flt3 A T 5: 147,291,509 (GRCm39) S619T possibly damaging Het
Fndc7 A T 3: 108,766,218 (GRCm39) C716S probably damaging Het
Gm26996 T A 6: 130,556,448 (GRCm39) noncoding transcript Het
Grik2 A T 10: 49,298,711 (GRCm39) F50I possibly damaging Het
Guf1 T C 5: 69,723,786 (GRCm39) V367A possibly damaging Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Ifnar2 T C 16: 91,188,684 (GRCm39) V55A probably benign Het
Ltbp4 A C 7: 27,024,608 (GRCm39) V674G probably damaging Het
Mroh2b T A 15: 4,947,772 (GRCm39) L529H probably damaging Het
Negr1 T C 3: 156,914,023 (GRCm39) probably benign Het
Neurog3 A G 10: 61,969,599 (GRCm39) T25A probably damaging Het
Or10v1 T C 19: 11,874,126 (GRCm39) V247A probably benign Het
Or4a69 T A 2: 89,313,100 (GRCm39) K126N probably damaging Het
Or51h1 A C 7: 102,308,685 (GRCm39) Y219S probably damaging Het
Or5k17 T C 16: 58,746,455 (GRCm39) T160A probably benign Het
Pax8 T A 2: 24,333,201 (GRCm39) probably benign Het
Pcsk6 A C 7: 65,581,480 (GRCm39) I254L possibly damaging Het
Pde3a A G 6: 141,404,942 (GRCm39) K389R probably benign Het
Rab3gap1 C A 1: 127,852,996 (GRCm39) probably benign Het
Rbck1 G A 2: 152,160,653 (GRCm39) Q428* probably null Het
Rptor A G 11: 119,689,666 (GRCm39) D321G probably null Het
Sall2 C A 14: 52,551,260 (GRCm39) R643L probably damaging Het
Skp1 T C 11: 52,134,446 (GRCm39) I59T possibly damaging Het
Slc23a3 T G 1: 75,105,200 (GRCm39) N456T probably damaging Het
Slc4a7 G A 14: 14,778,850 (GRCm38) G920S probably damaging Het
Smarcd3 T C 5: 24,797,802 (GRCm39) I467V probably benign Het
Spata31d1c C T 13: 65,183,874 (GRCm39) A472V probably damaging Het
Spmap1 A G 11: 97,662,441 (GRCm39) S144P probably damaging Het
Srsf6 T C 2: 162,773,643 (GRCm39) I18T probably damaging Het
Stom C T 2: 35,213,758 (GRCm39) G80D probably damaging Het
Svep1 A T 4: 58,084,028 (GRCm39) Y1915N possibly damaging Het
Tmf1 C T 6: 97,150,361 (GRCm39) V449I probably benign Het
Triobp C T 15: 78,851,295 (GRCm39) A483V probably benign Het
Vdac1 G A 11: 52,265,799 (GRCm39) probably null Het
Vmn2r75 T G 7: 85,815,494 (GRCm39) E123D probably benign Het
Vmn2r79 T A 7: 86,653,319 (GRCm39) V528D possibly damaging Het
Zdbf2 T G 1: 63,345,750 (GRCm39) N1376K possibly damaging Het
Zeb1os1 T C 18: 5,525,375 (GRCm39) noncoding transcript Het
Other mutations in Impg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01329:Impg1 APN 9 80,230,111 (GRCm39) missense probably benign 0.02
IGL01733:Impg1 APN 9 80,249,206 (GRCm39) missense probably damaging 0.99
IGL02333:Impg1 APN 9 80,322,808 (GRCm39) missense possibly damaging 0.74
IGL03097:Impg1 UTSW 9 80,287,234 (GRCm39) missense possibly damaging 0.48
R0021:Impg1 UTSW 9 80,317,479 (GRCm39) missense probably damaging 1.00
R0029:Impg1 UTSW 9 80,305,653 (GRCm39) missense probably damaging 1.00
R0029:Impg1 UTSW 9 80,305,653 (GRCm39) missense probably damaging 1.00
R0108:Impg1 UTSW 9 80,230,130 (GRCm39) missense possibly damaging 0.63
R0201:Impg1 UTSW 9 80,252,843 (GRCm39) missense probably damaging 1.00
R0271:Impg1 UTSW 9 80,294,161 (GRCm39) splice site probably benign
R0316:Impg1 UTSW 9 80,249,347 (GRCm39) missense probably damaging 1.00
R0492:Impg1 UTSW 9 80,252,590 (GRCm39) missense possibly damaging 0.74
R0633:Impg1 UTSW 9 80,301,437 (GRCm39) missense possibly damaging 0.72
R0705:Impg1 UTSW 9 80,287,261 (GRCm39) missense probably damaging 1.00
R0962:Impg1 UTSW 9 80,289,023 (GRCm39) missense probably benign 0.23
R1264:Impg1 UTSW 9 80,221,675 (GRCm39) missense probably benign 0.31
R1707:Impg1 UTSW 9 80,285,799 (GRCm39) splice site probably null
R2017:Impg1 UTSW 9 80,322,720 (GRCm39) missense probably damaging 1.00
R3904:Impg1 UTSW 9 80,252,867 (GRCm39) missense possibly damaging 0.76
R3960:Impg1 UTSW 9 80,322,917 (GRCm39) missense probably benign 0.00
R4231:Impg1 UTSW 9 80,252,611 (GRCm39) missense probably damaging 1.00
R4233:Impg1 UTSW 9 80,252,611 (GRCm39) missense probably damaging 1.00
R4235:Impg1 UTSW 9 80,252,611 (GRCm39) missense probably damaging 1.00
R4236:Impg1 UTSW 9 80,252,611 (GRCm39) missense probably damaging 1.00
R4490:Impg1 UTSW 9 80,301,341 (GRCm39) missense probably damaging 1.00
R4701:Impg1 UTSW 9 80,221,682 (GRCm39) missense probably benign 0.07
R4785:Impg1 UTSW 9 80,305,732 (GRCm39) missense probably benign 0.01
R4796:Impg1 UTSW 9 80,301,377 (GRCm39) missense probably damaging 0.99
R4923:Impg1 UTSW 9 80,252,827 (GRCm39) missense probably damaging 0.98
R4923:Impg1 UTSW 9 80,252,360 (GRCm39) nonsense probably null
R5468:Impg1 UTSW 9 80,347,318 (GRCm39) missense probably benign 0.05
R5596:Impg1 UTSW 9 80,252,500 (GRCm39) missense probably benign 0.24
R6001:Impg1 UTSW 9 80,223,454 (GRCm39) missense probably benign 0.12
R6156:Impg1 UTSW 9 80,230,106 (GRCm39) missense probably damaging 1.00
R6315:Impg1 UTSW 9 80,301,356 (GRCm39) missense probably benign 0.21
R6419:Impg1 UTSW 9 80,287,300 (GRCm39) missense probably benign 0.38
R6880:Impg1 UTSW 9 80,312,082 (GRCm39) missense probably damaging 1.00
R7013:Impg1 UTSW 9 80,285,776 (GRCm39) missense probably damaging 1.00
R8542:Impg1 UTSW 9 80,312,080 (GRCm39) missense probably damaging 1.00
R9018:Impg1 UTSW 9 80,301,474 (GRCm39) missense probably benign 0.19
R9034:Impg1 UTSW 9 80,347,351 (GRCm39) start gained probably benign
R9174:Impg1 UTSW 9 80,252,750 (GRCm39) missense probably damaging 0.99
R9242:Impg1 UTSW 9 80,289,064 (GRCm39) missense probably damaging 1.00
R9344:Impg1 UTSW 9 80,312,040 (GRCm39) missense probably benign 0.39
R9380:Impg1 UTSW 9 80,289,077 (GRCm39) missense probably benign 0.34
R9584:Impg1 UTSW 9 80,322,849 (GRCm39) missense probably benign 0.14
R9594:Impg1 UTSW 9 80,288,923 (GRCm39) missense probably damaging 1.00
R9632:Impg1 UTSW 9 80,287,276 (GRCm39) missense probably benign 0.24
R9710:Impg1 UTSW 9 80,287,276 (GRCm39) missense probably benign 0.24
Z1176:Impg1 UTSW 9 80,285,749 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- GCTAAAATCTGTCTCAAGGATTCCTG -3'
(R):5'- TTGGCAGTTCCTAAGGTGAG -3'

Sequencing Primer
(F):5'- CTCAAGGATTCCTGTGGACAG -3'
(R):5'- CAGTTCCTAAGGTGAGGTAATTTG -3'
Posted On 2015-09-24