Incidental Mutation 'R2128:Impg2'
ID 227779
Institutional Source Beutler Lab
Gene Symbol Impg2
Ensembl Gene ENSMUSG00000035270
Gene Name interphotoreceptor matrix proteoglycan 2
Synonyms IPM200, Spacrcan, PG10.2
MMRRC Submission 040131-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R2128 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 56024676-56094119 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 56038742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 127 (Y127N)
Ref Sequence ENSEMBL: ENSMUSP00000063648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069936] [ENSMUST00000160116]
AlphaFold Q80XH2
Predicted Effect noncoding transcript
Transcript: ENSMUST00000069778
Predicted Effect probably damaging
Transcript: ENSMUST00000069936
AA Change: Y127N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063648
Gene: ENSMUSG00000035270
AA Change: Y127N

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 damaging
Transcript: ENSMUST00000160116
AA Change: Y127N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125135
Gene: ENSMUSG00000035270
AA Change: Y127N

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A G 10: 87,066,066 (GRCm39) E249G possibly damaging Het
2610028H24Rik A G 10: 76,293,349 (GRCm39) M136V possibly damaging Het
4930523C07Rik A T 1: 159,902,945 (GRCm39) K72* probably null Het
Abca6 A G 11: 110,110,475 (GRCm39) I558T probably benign Het
Acot10 T C 15: 20,666,712 (GRCm39) T10A probably benign Het
Adgrl4 T A 3: 151,205,838 (GRCm39) D233E probably benign Het
Adgrv1 A T 13: 81,705,199 (GRCm39) F1537Y probably damaging Het
Aqp3 T A 4: 41,098,061 (GRCm39) I17F probably benign Het
Arap1 T A 7: 101,058,527 (GRCm39) L1375H probably damaging Het
Aspm T C 1: 139,385,373 (GRCm39) V339A probably benign Het
Atp13a3 G A 16: 30,173,094 (GRCm39) A261V probably damaging Het
Casp8ap2 T C 4: 32,640,142 (GRCm39) Y399H probably benign Het
Cept1 A G 3: 106,420,195 (GRCm39) V213A probably damaging Het
Cit A G 5: 116,123,566 (GRCm39) D1469G possibly damaging Het
Cnga2 A G X: 71,051,394 (GRCm39) Y182C possibly damaging Het
Cox20 A G 1: 178,149,512 (GRCm39) I54V probably benign Het
Dhx8 C A 11: 101,629,235 (GRCm39) D261E probably benign Het
Dnah2 A T 11: 69,349,011 (GRCm39) I2486N probably benign Het
Dnah5 A G 15: 28,408,467 (GRCm39) Q3484R probably benign Het
Drd1 T C 13: 54,207,572 (GRCm39) Y207C probably damaging Het
Dtl C T 1: 191,290,222 (GRCm39) V222I probably damaging Het
Dync1h1 T C 12: 110,607,316 (GRCm39) Y2636H probably damaging Het
Endog C A 2: 30,062,048 (GRCm39) D154E probably benign Het
Epc1 A T 18: 6,462,954 (GRCm39) V14E probably damaging Het
Ercc4 C A 16: 12,965,798 (GRCm39) T810K probably damaging Het
Fam43b T A 4: 138,123,299 (GRCm39) N7I possibly damaging Het
Fgd1 T C X: 149,869,213 (GRCm39) probably null Het
Filip1 G T 9: 79,726,612 (GRCm39) T669N probably damaging Het
Fndc1 A G 17: 7,997,497 (GRCm39) probably benign Het
Foxk1 C A 5: 142,420,943 (GRCm39) S189* probably null Het
Gatm T C 2: 122,431,017 (GRCm39) N274S probably damaging Het
Gdf9 A G 11: 53,328,334 (GRCm39) Y430C probably damaging Het
Gga1 C T 15: 78,772,648 (GRCm39) P260S probably damaging Het
Gm11595 A T 11: 99,663,327 (GRCm39) C118S unknown Het
Gm382 G T X: 125,970,274 (GRCm39) V820L possibly damaging Het
Gzmk T A 13: 113,308,548 (GRCm39) I179F probably damaging Het
Hsp90b1 T C 10: 86,531,570 (GRCm39) D421G probably damaging Het
Hus1 A G 11: 8,956,011 (GRCm39) M174T probably damaging Het
Ifngr2 T A 16: 91,359,761 (GRCm39) Y289* probably null Het
Il6st T A 13: 112,640,709 (GRCm39) H828Q probably benign Het
Irf3 T A 7: 44,651,168 (GRCm39) W345R probably damaging Het
Kif1b G A 4: 149,272,097 (GRCm39) S1568L possibly damaging Het
Klhl42 A G 6: 147,003,251 (GRCm39) T342A probably benign Het
Kndc1 G T 7: 139,510,025 (GRCm39) R1289L probably damaging Het
Knl1 A T 2: 118,902,300 (GRCm39) T1334S possibly damaging Het
L3mbtl3 G T 10: 26,189,766 (GRCm39) D499E unknown Het
Ldhd T A 8: 112,353,680 (GRCm39) M478L probably benign Het
Loxl4 C G 19: 42,592,402 (GRCm39) E385D probably damaging Het
Lrriq1 G A 10: 103,050,718 (GRCm39) T678I probably benign Het
Macf1 T A 4: 123,386,567 (GRCm39) I1017F probably benign Het
Madcam1 A G 10: 79,501,406 (GRCm39) E157G possibly damaging Het
Mamdc4 T C 2: 25,459,270 (GRCm39) D195G probably damaging Het
Mctp1 A G 13: 76,972,941 (GRCm39) D648G probably damaging Het
Mycbp2 T C 14: 103,438,666 (GRCm39) M2072V probably benign Het
Nck1 A G 9: 100,379,600 (GRCm39) probably null Het
Ndufaf4 G T 4: 24,898,608 (GRCm39) D55Y probably damaging Het
Nek11 A T 9: 105,177,560 (GRCm39) D230E probably benign Het
Nit2 T C 16: 56,981,559 (GRCm39) K67E possibly damaging Het
Or12j2 C T 7: 139,916,342 (GRCm39) T189M probably damaging Het
Or5ae1 T C 7: 84,565,701 (GRCm39) F238S probably damaging Het
Or6a2 T C 7: 106,600,455 (GRCm39) D204G probably damaging Het
Or6c1 A T 10: 129,518,401 (GRCm39) V69E possibly damaging Het
Pakap A G 4: 57,854,890 (GRCm39) Y134C probably benign Het
Pccb G C 9: 100,867,884 (GRCm39) D347E probably damaging Het
Plcl1 T A 1: 55,736,997 (GRCm39) F779L probably damaging Het
Prune2 C A 19: 17,099,786 (GRCm39) D1763E probably benign Het
Pwwp2a A G 11: 43,596,145 (GRCm39) S437G probably benign Het
Rabgap1l A T 1: 160,566,527 (GRCm39) D90E probably benign Het
Rapgef4 T A 2: 72,056,897 (GRCm39) I552N possibly damaging Het
Scn7a A T 2: 66,528,330 (GRCm39) I720K probably damaging Het
Scn9a T A 2: 66,356,998 (GRCm39) N1101I probably damaging Het
Siglec1 A T 2: 130,922,417 (GRCm39) Y553N probably damaging Het
Slc22a23 A G 13: 34,387,953 (GRCm39) L381P possibly damaging Het
Slc7a11 T A 3: 50,338,558 (GRCm39) T284S probably damaging Het
Slc8a2 T A 7: 15,874,417 (GRCm39) probably null Het
Snx29 T A 16: 11,218,835 (GRCm39) S224T probably damaging Het
Stimate T C 14: 30,588,581 (GRCm39) Y103H probably damaging Het
Stox1 T C 10: 62,500,314 (GRCm39) T749A probably benign Het
Tg A G 15: 66,566,743 (GRCm39) I1264V probably benign Het
Top2a A C 11: 98,900,633 (GRCm39) V609G probably damaging Het
Trmt44 G A 5: 35,732,176 (GRCm39) P72S probably benign Het
Ttll3 G C 6: 113,389,895 (GRCm39) S760T probably benign Het
Ttn T C 2: 76,579,022 (GRCm39) D23957G probably damaging Het
Ttn G A 2: 76,664,241 (GRCm39) probably benign Het
Ubxn1 T G 19: 8,849,434 (GRCm39) V59G probably benign Het
Ubxn4 T C 1: 128,172,247 (GRCm39) S14P probably benign Het
Uso1 T A 5: 92,343,229 (GRCm39) M771K probably benign Het
Utp20 A G 10: 88,649,917 (GRCm39) F431S probably damaging Het
Vmn1r206 T C 13: 22,804,782 (GRCm39) S142G probably benign Het
Vmn2r19 A G 6: 123,285,289 (GRCm39) probably null Het
Vps36 G T 8: 22,708,305 (GRCm39) probably null Het
Wnt3 A G 11: 103,703,474 (GRCm39) H319R possibly damaging Het
Zbtb26 G T 2: 37,326,563 (GRCm39) Q158K probably benign Het
Zfp648 T C 1: 154,080,353 (GRCm39) S171P probably benign 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
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'- CATGACCCTGCAGAAAGGATAG -3'
(R):5'- AAACTAAGCTATTCCCCAGGGC -3'

Sequencing Primer
(F):5'- CCCTGCAGAAAGGATAGTGTGATC -3'
(R):5'- GGCAGCCCACTCAGATCC -3'
Posted On 2014-09-17