Incidental Mutation 'R4424:Impg2'
ID 327293
Institutional Source Beutler Lab
Gene Symbol Impg2
Ensembl Gene ENSMUSG00000035270
Gene Name interphotoreceptor matrix proteoglycan 2
Synonyms IPM200, Spacrcan, PG10.2
MMRRC Submission 041696-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R4424 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 56024676-56094119 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 56080388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 622 (V622I)
Ref Sequence ENSEMBL: ENSMUSP00000125135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069936] [ENSMUST00000160116]
AlphaFold Q80XH2
Predicted Effect probably benign
Transcript: ENSMUST00000069936
AA Change: V731I

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000063648
Gene: ENSMUSG00000035270
AA Change: V731I

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 possibly damaging
Transcript: ENSMUST00000160116
AA Change: V622I

PolyPhen 2 Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000125135
Gene: ENSMUSG00000035270
AA Change: V622I

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 95% (69/73)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A T 2: 68,445,491 (GRCm39) probably benign Het
Aimp1 A T 3: 132,373,253 (GRCm39) L229Q probably benign Het
Ankrd16 T A 2: 11,789,215 (GRCm39) D267E possibly damaging Het
Apol11b A G 15: 77,522,133 (GRCm39) probably null Het
Arfgap1 C A 2: 180,622,869 (GRCm39) D327E probably benign Het
Arid3b A T 9: 57,741,151 (GRCm39) D98E probably benign Het
Art2b T A 7: 101,229,129 (GRCm39) I257F probably benign Het
Atp5f1a T A 18: 77,867,766 (GRCm39) probably benign Het
Carmil3 A G 14: 55,738,928 (GRCm39) T861A probably benign Het
Cep164 A T 9: 45,691,002 (GRCm39) F1259L possibly damaging Het
Cfap91 G T 16: 38,140,727 (GRCm39) P409T probably damaging Het
Chrnd T C 1: 87,123,512 (GRCm39) V350A probably benign Het
Clcn7 T C 17: 25,379,150 (GRCm39) L744P probably damaging Het
Csl T A 10: 99,594,453 (GRCm39) D204V possibly damaging Het
Cstdc3 A G 16: 36,132,951 (GRCm39) D76G probably null Het
Cyp2c29 G T 19: 39,275,620 (GRCm39) W20L probably damaging Het
Dhrs13 G T 11: 77,927,951 (GRCm39) G266* probably null Het
Dll3 T C 7: 27,995,716 (GRCm39) N362D probably damaging Het
Efcab3 T G 11: 104,626,940 (GRCm39) probably null Het
Fanca A G 8: 124,015,532 (GRCm39) V715A probably benign Het
Fhod1 T C 8: 106,063,983 (GRCm39) probably benign Het
Fpr2 C T 17: 18,113,394 (GRCm39) P130L probably damaging Het
Glce A G 9: 61,967,535 (GRCm39) Y539H probably damaging Het
Hfe A T 13: 23,890,866 (GRCm39) V91E probably benign Het
Hoxd13 A T 2: 74,500,301 (GRCm39) K281* probably null Het
Ighv1-66 A T 12: 115,557,157 (GRCm39) W3R probably damaging Het
Jun A G 4: 94,939,084 (GRCm39) M142T probably benign Het
Krt78 T C 15: 101,856,375 (GRCm39) T479A probably benign Het
Lama3 T A 18: 12,652,929 (GRCm39) C216* probably null Het
Lin54 G T 5: 100,594,419 (GRCm39) T582K probably damaging Het
Mapk11 A G 15: 89,029,576 (GRCm39) probably null Het
Mindy3 A G 2: 12,353,010 (GRCm39) M397T probably benign Het
Mrpl41 T C 2: 24,864,418 (GRCm39) T85A possibly damaging Het
Msh6 T A 17: 88,298,217 (GRCm39) L1354* probably null Het
Mtmr12 T C 15: 12,230,400 (GRCm39) V41A probably damaging Het
Myh2 A T 11: 67,083,551 (GRCm39) Q1478L probably benign Het
Myo6 A G 9: 80,195,320 (GRCm39) K897E probably benign Het
Naprt G T 15: 75,764,605 (GRCm39) probably null Het
Nrl G A 14: 55,759,675 (GRCm39) S84L probably benign Het
Nxf1 A G 19: 8,744,128 (GRCm39) probably benign Het
Or8g2b A T 9: 39,751,652 (GRCm39) R307S possibly damaging Het
Panx2 G T 15: 88,952,423 (GRCm39) V305F probably benign Het
Pcdhga1 T C 18: 37,795,632 (GRCm39) L212P probably damaging Het
Pik3ap1 G A 19: 41,364,320 (GRCm39) T133I probably benign Het
Ppat A G 5: 77,063,061 (GRCm39) W517R probably damaging Het
Ppp1r16b C T 2: 158,599,174 (GRCm39) T382I probably benign Het
Prkdc G A 16: 15,653,946 (GRCm39) R3901H probably damaging Het
Prkdc A G 16: 15,591,603 (GRCm39) K2694E probably damaging Het
Psma8 A G 18: 14,854,247 (GRCm39) I42M probably damaging Het
Ptprd A T 4: 76,021,200 (GRCm39) M599K probably benign Het
Rnmt A G 18: 68,444,742 (GRCm39) D237G probably null Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Scaf11 G A 15: 96,316,309 (GRCm39) T1085I possibly damaging Het
Sec14l3 G A 11: 4,016,210 (GRCm39) R43Q probably damaging Het
Shc4 G T 2: 125,494,442 (GRCm39) T131K probably benign Het
Snx27 A G 3: 94,469,330 (GRCm39) F4L probably benign Het
Sorcs1 T C 19: 50,367,379 (GRCm39) T228A probably damaging Het
Spmap2l T C 5: 77,202,383 (GRCm39) I268T possibly damaging Het
Sptan1 C T 2: 29,919,721 (GRCm39) probably benign Het
Syvn1 C T 19: 6,099,951 (GRCm39) probably benign Het
Tex47 G T 5: 7,355,364 (GRCm39) A182S probably benign Het
Tpcn1 T C 5: 120,680,583 (GRCm39) K549R probably damaging Het
Upf3a C A 8: 13,846,573 (GRCm39) P318T probably benign Het
Zbtb40 A T 4: 136,726,005 (GRCm39) M518K probably damaging Het
Zcchc14 G A 8: 122,378,680 (GRCm39) probably benign Het
Zfp687 G A 3: 94,916,439 (GRCm39) P861L probably 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
R0330:Impg2 UTSW 16 56,072,627 (GRCm39) missense probably damaging 0.99
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
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'- GGCAGAGTAGATTCCACAGAAC -3'
(R):5'- TCCCTAAGGAAGAAGTTCTTGTC -3'

Sequencing Primer
(F):5'- ATCAGAACATAGATATGGAGATAGGC -3'
(R):5'- CCAAACTGTATCTGATTCTGGCAAC -3'
Posted On 2015-07-07