Incidental Mutation 'R3960:Impg1'
ID 312059
Institutional Source Beutler Lab
Gene Symbol Impg1
Ensembl Gene ENSMUSG00000032343
Gene Name interphotoreceptor matrix proteoglycan 1
Synonyms SPACR, A930015H12Rik, IMP150
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R3960 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 80220612-80347534 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 80322917 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 29 (F29L)
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: F29L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108876
Gene: ENSMUSG00000032343
AA Change: F29L

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Celf4 A G 18: 25,670,811 (GRCm39) M124T probably benign Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Etl4 A G 2: 20,344,854 (GRCm39) T53A probably benign Het
Hao1 A C 2: 134,364,903 (GRCm39) probably null Het
Hmgcs2 T C 3: 98,204,793 (GRCm39) F317S possibly damaging Het
Ildr2 T A 1: 166,136,909 (GRCm39) W564R probably damaging Het
Itgam T C 7: 127,714,347 (GRCm39) V834A probably benign Het
Itpr2 C T 6: 146,327,008 (GRCm39) V120I probably damaging Het
Itpr2 T C 6: 146,131,262 (GRCm39) N1948D probably damaging Het
Katnb1 T C 8: 95,813,925 (GRCm39) V17A possibly damaging Het
Nipbl T C 15: 8,380,018 (GRCm39) N925D probably benign Het
Oasl2 T C 5: 115,043,098 (GRCm39) V70A probably benign Het
Panx1 GTTCTTCT GTTCT 9: 14,917,467 (GRCm39) probably benign Het
Pcdh10 A G 3: 45,333,749 (GRCm39) H21R probably benign Het
Prkg2 G T 5: 99,145,354 (GRCm39) T160K possibly damaging Het
Sec23ip C G 7: 128,378,574 (GRCm39) T796S probably benign Het
Smarcd2 A G 11: 106,157,401 (GRCm39) S182P probably damaging Het
Tbrg4 A G 11: 6,568,077 (GRCm39) S484P probably benign Het
Tprkb A G 6: 85,905,783 (GRCm39) E156G probably benign Het
Zfp647 A G 15: 76,795,176 (GRCm39) probably null 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
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
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'- CAAGGATTCCTGTGGACAGATG -3'
(R):5'- GCAGTTCCTAAGGTGAGGTAATTTG -3'

Sequencing Primer
(F):5'- CCTGTGGACAGATGTTAGCAGC -3'
(R):5'- CTGAAACTGCTTTGTCATTTTTCGG -3'
Posted On 2015-04-29