Incidental Mutation 'R0330:Impg2'
ID 26012
Institutional Source Beutler Lab
Gene Symbol Impg2
Ensembl Gene ENSMUSG00000035270
Gene Name interphotoreceptor matrix proteoglycan 2
Synonyms IPM200, Spacrcan, PG10.2
MMRRC Submission 038539-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R0330 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 56024676-56094119 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56072627 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 353 (Y353C)
Ref Sequence ENSEMBL: ENSMUSP00000063648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069936] [ENSMUST00000160116]
AlphaFold Q80XH2
Predicted Effect probably damaging
Transcript: ENSMUST00000069936
AA Change: Y353C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000063648
Gene: ENSMUSG00000035270
AA Change: Y353C

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 benign
Transcript: ENSMUST00000160116
AA Change: Y353C

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000125135
Gene: ENSMUSG00000035270
AA Change: Y353C

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
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.7%
  • 20x: 88.0%
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b T C 9: 118,983,038 (GRCm39) N120S probably damaging Het
Acsbg3 A T 17: 57,190,631 (GRCm39) I400F probably benign Het
Acvr1c T C 2: 58,174,850 (GRCm39) T313A probably damaging Het
Adamtsl3 A T 7: 82,171,198 (GRCm39) D417V probably damaging Het
Adgrf4 A T 17: 42,978,204 (GRCm39) C380S probably damaging Het
AI597479 T G 1: 43,150,277 (GRCm39) L129R probably benign Het
AI661453 G A 17: 47,757,571 (GRCm39) R76Q probably damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Anxa7 A C 14: 20,519,566 (GRCm39) probably null Het
Arhgap12 T A 18: 6,039,382 (GRCm39) D455V probably damaging Het
Arhgap22 A G 14: 33,091,374 (GRCm39) R650G possibly damaging Het
Arhgef12 A C 9: 42,931,982 (GRCm39) H168Q probably damaging Het
Arhgef2 A G 3: 88,549,808 (GRCm39) H592R probably damaging Het
BC049715 A G 6: 136,817,035 (GRCm39) T92A possibly damaging Het
Bcr C T 10: 75,017,466 (GRCm39) T1209I possibly damaging Het
Bmpr1a C T 14: 34,151,734 (GRCm39) S185N probably benign Het
Calcoco1 A T 15: 102,624,198 (GRCm39) M246K probably benign Het
Capn8 T A 1: 182,457,703 (GRCm39) I689N probably benign Het
Ccno T A 13: 113,126,530 (GRCm39) L333Q probably damaging Het
Cep57 G A 9: 13,728,281 (GRCm39) R148W probably damaging Het
Cftr T A 6: 18,226,096 (GRCm39) M318K probably null Het
Chd3 T G 11: 69,247,159 (GRCm39) D1003A probably damaging Het
Ckmt2 T A 13: 92,011,322 (GRCm39) D96V possibly damaging Het
Cldn13 A G 5: 134,944,176 (GRCm39) V3A probably benign Het
Col17a1 T C 19: 47,658,871 (GRCm39) T413A probably benign Het
Cpne5 A T 17: 29,430,634 (GRCm39) L92H probably damaging Het
Dnaaf2 C A 12: 69,244,518 (GRCm39) R181L probably damaging Het
Erbin C A 13: 104,005,373 (GRCm39) C114F probably damaging Het
Fads2b T A 2: 85,348,895 (GRCm39) R72S probably benign Het
Fanca A T 8: 124,000,911 (GRCm39) C1156* probably null Het
Flot2 T A 11: 77,949,784 (GRCm39) I322N possibly damaging Het
Fstl5 T C 3: 76,615,060 (GRCm39) V707A possibly damaging Het
Gli3 T G 13: 15,898,143 (GRCm39) L741R probably damaging Het
Gmip G T 8: 70,263,468 (GRCm39) S70I probably benign Het
Gnptab T C 10: 88,276,171 (GRCm39) S1153P probably damaging Het
Gramd1a T C 7: 30,837,679 (GRCm39) D360G possibly damaging Het
Gtf2i T C 5: 134,280,740 (GRCm39) E518G probably damaging Het
Hsp90b1 T C 10: 86,530,019 (GRCm39) E226G probably damaging Het
Kank1 A G 19: 25,401,677 (GRCm39) K1095E probably benign Het
Kcnh4 C T 11: 100,648,569 (GRCm39) C45Y probably damaging Het
Kif13b A G 14: 65,040,669 (GRCm39) T1590A probably benign Het
Lpin3 T C 2: 160,747,225 (GRCm39) V827A probably benign Het
Lrp1b A T 2: 40,591,773 (GRCm39) C73* probably null Het
Mcm8 A G 2: 132,661,914 (GRCm39) K83E possibly damaging Het
Med12l A G 3: 59,135,123 (GRCm39) E757G probably damaging Het
Mep1a A G 17: 43,808,789 (GRCm39) probably null Het
Mtor T A 4: 148,568,837 (GRCm39) V1119E probably benign Het
Mybpc2 C T 7: 44,158,453 (GRCm39) A710T possibly damaging Het
Myof A C 19: 37,924,326 (GRCm39) I1297S probably damaging Het
Nacad A G 11: 6,550,903 (GRCm39) S763P probably benign Het
Nbea A G 3: 55,550,238 (GRCm39) V2730A probably benign Het
Nbeal1 A G 1: 60,307,222 (GRCm39) Y1684C probably damaging Het
Optn A T 2: 5,039,066 (GRCm39) N352K possibly damaging Het
Or10k2 A G 8: 84,268,142 (GRCm39) Y123C probably damaging Het
Or2g1 A T 17: 38,106,880 (GRCm39) M182L probably benign Het
Or7g16 A G 9: 18,726,937 (GRCm39) Y218H probably damaging Het
Or9g4b T A 2: 85,616,147 (GRCm39) C97* probably null Het
Pcif1 G T 2: 164,731,364 (GRCm39) R466L probably damaging Het
Phxr2 T C 10: 98,961,979 (GRCm39) probably benign Het
Plaat5 T A 19: 7,614,663 (GRCm39) probably null Het
Plb1 T A 5: 32,512,701 (GRCm39) F1353Y probably damaging Het
Plec A G 15: 76,075,618 (GRCm39) probably null Het
Polr1a T A 6: 71,943,400 (GRCm39) C1212S possibly damaging Het
Primpol A T 8: 47,063,496 (GRCm39) N53K probably damaging Het
Pygo2 T A 3: 89,340,461 (GRCm39) N286K possibly damaging Het
Rttn G A 18: 89,004,204 (GRCm39) probably null Het
Serpinb3b G T 1: 107,087,433 (GRCm39) N25K probably damaging Het
Sidt2 A G 9: 45,866,200 (GRCm39) I2T probably benign Het
Slc12a3 A T 8: 95,072,974 (GRCm39) N699I possibly damaging Het
Slc25a30 G A 14: 76,000,112 (GRCm39) Q285* probably null Het
Slc4a9 A T 18: 36,668,592 (GRCm39) H724L probably damaging Het
Ssbp2 T A 13: 91,828,698 (GRCm39) probably null Het
Stac3 C A 10: 127,343,616 (GRCm39) probably null Het
Stk32a A G 18: 43,446,566 (GRCm39) K339E probably benign Het
Stoml2 A G 4: 43,030,238 (GRCm39) probably null Het
Syne2 G T 12: 76,013,727 (GRCm39) G2974C probably benign Het
Tbc1d16 A G 11: 119,049,555 (GRCm39) probably null Het
Tfdp2 T G 9: 96,188,946 (GRCm39) F200V probably damaging Het
Tie1 C A 4: 118,341,924 (GRCm39) R175L probably benign Het
Trappc12 A G 12: 28,797,259 (GRCm39) V91A probably benign Het
Trim46 G T 3: 89,143,820 (GRCm39) P536Q probably damaging Het
Tshz3 T A 7: 36,469,458 (GRCm39) D482E probably benign Het
Tspan33 T C 6: 29,711,091 (GRCm39) probably null Het
Unc80 T C 1: 66,713,246 (GRCm39) L2788P possibly damaging Het
Utp20 T A 10: 88,653,841 (GRCm39) T260S probably benign Het
Vmn2r118 G T 17: 55,917,717 (GRCm39) T265K probably damaging Het
Vmn2r98 A C 17: 19,286,609 (GRCm39) H369P probably benign Het
Vps39 A T 2: 120,169,268 (GRCm39) Y245N possibly damaging Het
Vps4a A C 8: 107,769,698 (GRCm39) I336L probably benign Het
Xylb T C 9: 119,210,653 (GRCm39) S379P probably damaging Het
Zbtb37 T C 1: 160,860,066 (GRCm39) T80A probably benign Het
Zfhx3 A G 8: 109,675,589 (GRCm39) D2213G probably damaging Het
Zfp729a G T 13: 67,768,473 (GRCm39) H585Q probably damaging Het
Zfp804b A T 5: 6,821,029 (GRCm39) I642N possibly damaging Het
Zfp804b A T 5: 6,821,994 (GRCm39) N356K possibly damaging Het
Other mutations in Impg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00542:Impg2 APN 16 56,081,968 (GRCm39) nonsense probably null
IGL01097:Impg2 APN 16 56,081,010 (GRCm39) critical splice donor site probably null
IGL01115:Impg2 APN 16 56,079,803 (GRCm39) missense possibly damaging 0.61
IGL01545:Impg2 APN 16 56,046,080 (GRCm39) splice site probably benign
IGL01644:Impg2 APN 16 56,080,233 (GRCm39) missense probably benign 0.04
IGL01690:Impg2 APN 16 56,025,568 (GRCm39) missense probably damaging 0.97
IGL01781:Impg2 APN 16 56,072,588 (GRCm39) missense probably benign 0.21
IGL01801:Impg2 APN 16 56,057,111 (GRCm39) missense probably damaging 0.97
IGL01980:Impg2 APN 16 56,041,890 (GRCm39) missense probably damaging 0.99
IGL02059:Impg2 APN 16 56,080,335 (GRCm39) missense probably damaging 1.00
IGL02140:Impg2 APN 16 56,079,831 (GRCm39) missense probably benign 0.05
IGL02206:Impg2 APN 16 56,079,960 (GRCm39) missense possibly damaging 0.92
IGL02245:Impg2 APN 16 56,089,445 (GRCm39) missense probably damaging 0.96
IGL02584:Impg2 APN 16 56,085,374 (GRCm39) missense probably damaging 1.00
IGL03061:Impg2 APN 16 56,088,779 (GRCm39) missense probably damaging 1.00
IGL03123:Impg2 APN 16 56,087,485 (GRCm39) missense probably damaging 1.00
IGL03280:Impg2 APN 16 56,088,631 (GRCm39) nonsense probably null
R0051:Impg2 UTSW 16 56,078,411 (GRCm39) missense probably damaging 1.00
R0117:Impg2 UTSW 16 56,082,005 (GRCm39) missense probably damaging 0.99
R0193:Impg2 UTSW 16 56,085,412 (GRCm39) nonsense probably null
R0270:Impg2 UTSW 16 56,089,378 (GRCm39) missense possibly damaging 0.88
R0326:Impg2 UTSW 16 56,080,848 (GRCm39) missense probably damaging 1.00
R0812:Impg2 UTSW 16 56,078,302 (GRCm39) intron probably benign
R1074:Impg2 UTSW 16 56,085,541 (GRCm39) splice site probably benign
R1283:Impg2 UTSW 16 56,078,302 (GRCm39) intron probably benign
R1618:Impg2 UTSW 16 56,080,221 (GRCm39) missense probably damaging 0.97
R1708:Impg2 UTSW 16 56,085,441 (GRCm39) missense probably benign 0.10
R1713:Impg2 UTSW 16 56,080,889 (GRCm39) missense probably benign 0.25
R1827:Impg2 UTSW 16 56,087,583 (GRCm39) missense possibly damaging 0.62
R1853:Impg2 UTSW 16 56,080,640 (GRCm39) missense probably damaging 1.00
R2064:Impg2 UTSW 16 56,063,993 (GRCm39) critical splice donor site probably null
R2100:Impg2 UTSW 16 56,051,748 (GRCm39) splice site probably null
R2125:Impg2 UTSW 16 56,085,427 (GRCm39) missense probably damaging 1.00
R2128:Impg2 UTSW 16 56,038,742 (GRCm39) missense probably damaging 1.00
R2195:Impg2 UTSW 16 56,080,497 (GRCm39) missense probably benign 0.39
R2247:Impg2 UTSW 16 56,088,627 (GRCm39) missense probably damaging 0.97
R2366:Impg2 UTSW 16 56,080,236 (GRCm39) missense probably benign 0.04
R2411:Impg2 UTSW 16 56,072,517 (GRCm39) missense probably damaging 1.00
R4193:Impg2 UTSW 16 56,088,774 (GRCm39) missense probably benign 0.00
R4356:Impg2 UTSW 16 56,080,527 (GRCm39) missense probably damaging 1.00
R4424:Impg2 UTSW 16 56,080,388 (GRCm39) missense possibly damaging 0.56
R4575:Impg2 UTSW 16 56,082,095 (GRCm39) missense probably damaging 1.00
R4766:Impg2 UTSW 16 56,078,302 (GRCm39) intron probably benign
R5024:Impg2 UTSW 16 56,080,463 (GRCm39) missense probably damaging 0.97
R5278:Impg2 UTSW 16 56,041,880 (GRCm39) missense probably benign 0.06
R5383:Impg2 UTSW 16 56,063,989 (GRCm39) missense probably benign 0.03
R5766:Impg2 UTSW 16 56,080,183 (GRCm39) missense possibly damaging 0.73
R5909:Impg2 UTSW 16 56,078,499 (GRCm39) missense probably damaging 0.99
R6525:Impg2 UTSW 16 56,025,512 (GRCm39) missense probably damaging 1.00
R6684:Impg2 UTSW 16 56,080,292 (GRCm39) missense probably benign 0.33
R6692:Impg2 UTSW 16 56,072,696 (GRCm39) missense probably damaging 1.00
R6711:Impg2 UTSW 16 56,085,449 (GRCm39) missense probably damaging 1.00
R6909:Impg2 UTSW 16 56,024,947 (GRCm39) missense probably damaging 0.97
R6959:Impg2 UTSW 16 56,088,693 (GRCm39) missense probably benign 0.01
R7226:Impg2 UTSW 16 56,087,467 (GRCm39) nonsense probably null
R7456:Impg2 UTSW 16 56,080,276 (GRCm39) missense probably benign 0.03
R7528:Impg2 UTSW 16 56,080,743 (GRCm39) missense possibly damaging 0.86
R7532:Impg2 UTSW 16 56,087,543 (GRCm39) missense probably damaging 0.96
R7601:Impg2 UTSW 16 56,080,394 (GRCm39) missense probably benign 0.22
R7803:Impg2 UTSW 16 56,087,513 (GRCm39) missense probably damaging 0.99
R8063:Impg2 UTSW 16 56,081,819 (GRCm39) intron probably benign
R8251:Impg2 UTSW 16 56,079,960 (GRCm39) missense possibly damaging 0.92
R8292:Impg2 UTSW 16 56,080,989 (GRCm39) missense probably damaging 1.00
R8481:Impg2 UTSW 16 56,072,629 (GRCm39) missense possibly damaging 0.76
R8524:Impg2 UTSW 16 56,038,757 (GRCm39) missense probably benign 0.03
R8782:Impg2 UTSW 16 56,079,818 (GRCm39) missense probably damaging 0.99
R8795:Impg2 UTSW 16 56,080,611 (GRCm39) missense probably benign 0.25
R8901:Impg2 UTSW 16 56,072,528 (GRCm39) missense probably damaging 1.00
R9243:Impg2 UTSW 16 56,051,823 (GRCm39) missense probably damaging 1.00
R9352:Impg2 UTSW 16 56,072,470 (GRCm39) missense probably benign 0.00
R9645:Impg2 UTSW 16 56,038,767 (GRCm39) missense probably damaging 0.99
X0023:Impg2 UTSW 16 56,080,239 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- GCCGTTGATAATGTGGGACACAGAG -3'
(R):5'- AGGGCGGAAGCTCCATTTATCAGG -3'

Sequencing Primer
(F):5'- tctcccacccactcccc -3'
(R):5'- AAGCTCCATTTATCAGGATGGGTC -3'
Posted On 2013-04-16