Incidental Mutation 'R6156:Impg1'
ID 489593
Institutional Source Beutler Lab
Gene Symbol Impg1
Ensembl Gene ENSMUSG00000032343
Gene Name interphotoreceptor matrix proteoglycan 1
Synonyms SPACR, A930015H12Rik, IMP150
MMRRC Submission 044303-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R6156 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 80220612-80347534 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80230106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 740 (C740S)
Ref Sequence ENSEMBL: ENSMUSP00000108876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085289] [ENSMUST00000113250]
AlphaFold Q8R1W8
Predicted Effect possibly damaging
Transcript: ENSMUST00000085289
AA Change: C663S

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000082395
Gene: ENSMUSG00000032343
AA Change: C663S

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 damaging
Transcript: ENSMUST00000113250
AA Change: C740S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108876
Gene: ENSMUSG00000032343
AA Change: C740S

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
Meta Mutation Damage Score 0.4490 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency 97% (68/70)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T G 15: 64,689,488 (GRCm39) probably null Het
Ank2 T C 3: 126,737,886 (GRCm39) D2579G probably damaging Het
Atp6v1b1 G C 6: 83,735,115 (GRCm39) G423R probably damaging Het
B4galnt3 T C 6: 120,191,801 (GRCm39) N644S probably benign Het
Bhmt1b C A 18: 87,775,231 (GRCm39) Y251* probably null Het
Capsl T G 15: 9,465,920 (GRCm39) M132R probably damaging Het
Cep120 A G 18: 53,836,295 (GRCm39) Y797H probably benign Het
Cimip4 T C 15: 78,263,013 (GRCm39) T214A probably damaging Het
Clec2e T A 6: 129,072,061 (GRCm39) D106V possibly damaging Het
Col6a2 C T 10: 76,440,004 (GRCm39) V634I possibly damaging Het
Dis3 T C 14: 99,336,215 (GRCm39) E97G probably benign Het
Dlec1 T C 9: 118,939,281 (GRCm39) probably null Het
Dock2 C A 11: 34,197,789 (GRCm39) V1484F possibly damaging Het
Ephb2 T A 4: 136,388,816 (GRCm39) M593L probably benign Het
Fcgrt T C 7: 44,751,484 (GRCm39) T125A probably benign Het
Gabbr1 T C 17: 37,359,319 (GRCm39) I98T probably benign Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gfod1 T C 13: 43,354,514 (GRCm39) S154G possibly damaging Het
Ggt5 C T 10: 75,445,160 (GRCm39) T389I probably damaging Het
Got2 A G 8: 96,598,896 (GRCm39) F169L probably benign Het
Gse1 A G 8: 121,215,866 (GRCm39) K5E possibly damaging Het
Hyal5 T C 6: 24,891,437 (GRCm39) I417T possibly damaging Het
Igkv4-91 G T 6: 68,745,607 (GRCm39) T97K probably damaging Het
Il4i1 T C 7: 44,489,608 (GRCm39) Y458H possibly damaging Het
Itgb1 C G 8: 129,458,535 (GRCm39) T788R possibly damaging Het
Lman2l A G 1: 36,477,907 (GRCm39) V143A probably damaging Het
Ltbp4 G T 7: 27,029,587 (GRCm39) T136K unknown Het
Macf1 A G 4: 123,366,073 (GRCm39) I1331T probably benign Het
Mmp11 G A 10: 75,762,325 (GRCm39) A336V probably damaging Het
Myh2 A T 11: 67,071,879 (GRCm39) I536F probably damaging Het
Myh4 A G 11: 67,141,618 (GRCm39) M826V probably benign Het
Naca T C 10: 127,875,160 (GRCm39) probably benign Het
Nr4a2 A G 2: 57,002,364 (GRCm39) Y30H probably damaging Het
Or12j4 A G 7: 140,046,758 (GRCm39) T215A probably benign Het
Or1e35 A T 11: 73,797,447 (GRCm39) Y290* probably null Het
Or2n1d T A 17: 38,646,064 (GRCm39) N5K probably damaging Het
Or4a67 T A 2: 88,597,934 (GRCm39) I242L probably benign Het
Or4f14d A T 2: 111,960,445 (GRCm39) L237Q probably damaging Het
Or4k42 A T 2: 111,320,095 (GRCm39) M136K probably damaging Het
Or4z4 A G 19: 12,076,484 (GRCm39) V173A possibly damaging Het
Or8g22 T A 9: 38,958,671 (GRCm39) M15L possibly damaging Het
Paqr3 A C 5: 97,256,128 (GRCm39) L82R probably damaging Het
Pex6 C T 17: 47,031,567 (GRCm39) P456S probably benign Het
Pih1d2 A T 9: 50,532,452 (GRCm39) K186I possibly damaging Het
Plekhh3 A G 11: 101,061,013 (GRCm39) probably benign Het
Ptpn23 C A 9: 110,216,849 (GRCm39) probably benign Het
Rcor3 T A 1: 191,812,142 (GRCm39) probably benign Het
Rgs11 T A 17: 26,429,439 (GRCm39) Y403* probably null Het
Scn10a T C 9: 119,464,649 (GRCm39) N984D probably benign Het
Snx14 C T 9: 88,289,392 (GRCm39) A287T possibly damaging Het
Stx3 T C 19: 11,780,874 (GRCm39) D33G probably damaging Het
Tacc2 A G 7: 130,227,494 (GRCm39) K1393R probably damaging Het
Tas2r129 T C 6: 132,928,455 (GRCm39) S131P probably benign Het
Tbx15 G T 3: 99,220,431 (GRCm39) probably null Het
Thada A G 17: 84,700,795 (GRCm39) V1237A probably damaging Het
Tnc A G 4: 63,888,589 (GRCm39) Y1735H probably damaging Het
Ttc22 A G 4: 106,495,780 (GRCm39) K378R probably benign Het
Tubg2 A G 11: 101,051,635 (GRCm39) K287E possibly damaging Het
Ugt3a1 T C 15: 9,310,762 (GRCm39) I348T possibly damaging Het
Unc79 A G 12: 103,027,717 (GRCm39) N436S probably damaging Het
Unc80 A T 1: 66,651,409 (GRCm39) I1585F probably benign Het
Vmn2r104 T C 17: 20,261,909 (GRCm39) Y407C probably damaging Het
Vmn2r108 T A 17: 20,692,447 (GRCm39) L136F probably benign Het
Vmn2r38 A G 7: 9,097,611 (GRCm39) S161P probably damaging Het
Vmn2r90 T C 17: 17,953,606 (GRCm39) I590T probably benign Het
Washc5 T C 15: 59,217,248 (GRCm39) E323G probably damaging Het
Wdhd1 C T 14: 47,505,653 (GRCm39) G273D probably damaging Het
Xpo6 G T 7: 125,708,016 (GRCm39) Q851K probably damaging Het
Zfp386 T C 12: 116,023,526 (GRCm39) S380P probably damaging Het
Zfp536 A G 7: 37,173,281 (GRCm39) C274R unknown Het
Zfp64 A G 2: 168,768,088 (GRCm39) I508T probably benign 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
R4592:Impg1 UTSW 9 80,322,907 (GRCm39) missense probably benign 0.05
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
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'- TTAAAGAAGCTCTCAACAAGCAGG -3'
(R):5'- ATCGGTCCTGTCTCTTGCAG -3'

Sequencing Primer
(F):5'- TCTCAACAAGCAGGATCCTGTATC -3'
(R):5'- TCTTGCAGCTGATCAGGC -3'
Posted On 2017-10-10