Incidental Mutation 'R1746:Erbin'
ID 194007
Institutional Source Beutler Lab
Gene Symbol Erbin
Ensembl Gene ENSMUSG00000021709
Gene Name Erbb2 interacting protein
Synonyms 1700028E05Rik, Erbb2ip, Erbin
MMRRC Submission 039778-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1746 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 103955295-104057022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103987339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 407 (I407T)
Ref Sequence ENSEMBL: ENSMUSP00000140931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022222] [ENSMUST00000053927] [ENSMUST00000091269] [ENSMUST00000169083] [ENSMUST00000188997] [ENSMUST00000191275]
AlphaFold Q80TH2
Predicted Effect probably damaging
Transcript: ENSMUST00000022222
AA Change: I407T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022222
Gene: ENSMUSG00000021709
AA Change: I407T

DomainStartEndE-ValueType
LRR 48 68 3.65e0 SMART
LRR 91 114 4.97e0 SMART
LRR 137 159 4.21e1 SMART
LRR 160 182 8.97e0 SMART
LRR 183 205 1.41e0 SMART
LRR 206 228 3.87e1 SMART
LRR 229 252 1.31e0 SMART
LRR 253 274 3.56e2 SMART
LRR 275 298 1.19e1 SMART
LRR 321 344 2.76e1 SMART
LRR 345 366 3.27e2 SMART
LRR 367 389 1.06e1 SMART
low complexity region 534 544 N/A INTRINSIC
low complexity region 593 603 N/A INTRINSIC
low complexity region 625 642 N/A INTRINSIC
low complexity region 647 659 N/A INTRINSIC
PDZ 1294 1374 3.6e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000053927
AA Change: I407T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000057956
Gene: ENSMUSG00000021709
AA Change: I407T

DomainStartEndE-ValueType
LRR 48 68 3.65e0 SMART
LRR 91 114 4.97e0 SMART
LRR 137 159 4.21e1 SMART
LRR 160 182 8.97e0 SMART
LRR 183 205 1.41e0 SMART
LRR 206 228 3.87e1 SMART
LRR 229 252 1.31e0 SMART
LRR 253 274 3.56e2 SMART
LRR 275 298 1.19e1 SMART
LRR 321 344 2.76e1 SMART
LRR 345 366 3.27e2 SMART
LRR 367 389 1.06e1 SMART
low complexity region 534 544 N/A INTRINSIC
low complexity region 593 603 N/A INTRINSIC
low complexity region 625 642 N/A INTRINSIC
low complexity region 647 659 N/A INTRINSIC
PDZ 1368 1448 3.6e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000091269
AA Change: I407T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000088813
Gene: ENSMUSG00000021709
AA Change: I407T

DomainStartEndE-ValueType
LRR 48 68 3.65e0 SMART
LRR 91 114 4.97e0 SMART
LRR 137 159 4.21e1 SMART
LRR 160 182 8.97e0 SMART
LRR 183 205 1.41e0 SMART
LRR 206 228 3.87e1 SMART
LRR 229 252 1.31e0 SMART
LRR 253 274 3.56e2 SMART
LRR 275 298 1.19e1 SMART
LRR 321 344 2.76e1 SMART
LRR 345 366 3.27e2 SMART
LRR 367 389 1.06e1 SMART
low complexity region 534 544 N/A INTRINSIC
low complexity region 593 603 N/A INTRINSIC
low complexity region 625 642 N/A INTRINSIC
low complexity region 647 659 N/A INTRINSIC
PDZ 1320 1400 3.6e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000169083
AA Change: I407T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127607
Gene: ENSMUSG00000021709
AA Change: I407T

DomainStartEndE-ValueType
LRR 48 68 3.65e0 SMART
LRR 91 114 4.97e0 SMART
LRR 137 159 4.21e1 SMART
LRR 160 182 8.97e0 SMART
LRR 183 205 1.41e0 SMART
LRR 206 228 3.87e1 SMART
LRR 229 252 1.31e0 SMART
LRR 253 274 3.56e2 SMART
LRR 275 298 1.19e1 SMART
LRR 321 344 2.76e1 SMART
LRR 345 366 3.27e2 SMART
LRR 367 389 1.06e1 SMART
low complexity region 534 544 N/A INTRINSIC
low complexity region 593 603 N/A INTRINSIC
low complexity region 625 642 N/A INTRINSIC
low complexity region 647 659 N/A INTRINSIC
PDZ 1329 1409 3.6e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000188997
AA Change: I407T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140931
Gene: ENSMUSG00000021709
AA Change: I407T

DomainStartEndE-ValueType
LRR 48 68 3.65e0 SMART
LRR 91 114 4.97e0 SMART
LRR 137 159 4.21e1 SMART
LRR 160 182 8.97e0 SMART
LRR 183 205 1.41e0 SMART
LRR 206 228 3.87e1 SMART
LRR 229 252 1.31e0 SMART
LRR 253 274 3.56e2 SMART
LRR 275 298 1.19e1 SMART
LRR 321 344 2.76e1 SMART
LRR 345 366 3.27e2 SMART
LRR 367 389 1.06e1 SMART
low complexity region 534 544 N/A INTRINSIC
low complexity region 593 603 N/A INTRINSIC
low complexity region 625 642 N/A INTRINSIC
low complexity region 647 659 N/A INTRINSIC
PDZ 1212 1292 3.6e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189323
Predicted Effect probably damaging
Transcript: ENSMUST00000191275
AA Change: I407T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140536
Gene: ENSMUSG00000021709
AA Change: I407T

DomainStartEndE-ValueType
LRR 48 68 3.65e0 SMART
LRR 91 114 4.97e0 SMART
LRR 137 159 4.21e1 SMART
LRR 160 182 8.97e0 SMART
LRR 183 205 1.41e0 SMART
LRR 206 228 3.87e1 SMART
LRR 229 252 1.31e0 SMART
LRR 253 274 3.56e2 SMART
LRR 275 298 1.19e1 SMART
LRR 321 344 2.76e1 SMART
LRR 345 366 3.27e2 SMART
LRR 367 389 1.06e1 SMART
low complexity region 534 544 N/A INTRINSIC
low complexity region 593 603 N/A INTRINSIC
low complexity region 625 642 N/A INTRINSIC
low complexity region 647 659 N/A INTRINSIC
PDZ 1368 1448 3.6e-16 SMART
Meta Mutation Damage Score 0.4328 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.6%
Validation Efficiency 100% (62/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the leucine-rich repeat and PDZ domain (LAP) family. The encoded protein contains 17 leucine-rich repeats and one PDZ domain. It binds to the unphosphorylated form of the ERBB2 protein and regulates ERBB2 function and localization. It has also been shown to affect the Ras signaling pathway by disrupting Ras-Raf interaction. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a null or gene trapped allele exhibit impaired myelination, reduced nerve conduction, and hyporesponsiveness to tactile stimuli. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 T A 13: 70,927,717 (GRCm39) probably null Het
Agrp G T 8: 106,293,467 (GRCm39) T106K probably damaging Het
Aknad1 A G 3: 108,659,099 (GRCm39) T38A possibly damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Arhgap21 T C 2: 20,865,910 (GRCm39) E902G probably damaging Het
Atg2b A G 12: 105,635,588 (GRCm39) S227P possibly damaging Het
Atp2c2 C T 8: 120,461,182 (GRCm39) probably benign Het
Atxn10 T C 15: 85,260,864 (GRCm39) V203A probably damaging Het
Chd9 A C 8: 91,737,326 (GRCm39) E1468D probably benign Het
Cntn5 T A 9: 9,831,577 (GRCm39) D601V probably damaging Het
Col4a2 G A 8: 11,496,020 (GRCm39) G1547D probably benign Het
Cul1 A G 6: 47,485,179 (GRCm39) E270G probably damaging Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dmgdh C A 13: 93,888,933 (GRCm39) T857K probably benign Het
Ednra T G 8: 78,398,211 (GRCm39) T279P probably benign Het
Fggy A G 4: 95,814,965 (GRCm39) Y440C probably damaging Het
Flrt2 A T 12: 95,747,566 (GRCm39) N635Y possibly damaging Het
Fnbp1l A G 3: 122,350,140 (GRCm39) I357T probably benign Het
Gulp1 A G 1: 44,793,513 (GRCm39) H58R possibly damaging Het
Hid1 A T 11: 115,245,464 (GRCm39) V446E probably damaging Het
Igfn1 A G 1: 135,897,561 (GRCm39) S1002P possibly damaging Het
Klri1 A G 6: 129,675,118 (GRCm39) probably null Het
Kmt2d A C 15: 98,762,259 (GRCm39) L409R probably damaging Het
Ltn1 A C 16: 87,208,669 (GRCm39) S810A possibly damaging Het
Mysm1 G A 4: 94,836,648 (GRCm39) Q721* probably null Het
Nae1 A G 8: 105,254,017 (GRCm39) V105A possibly damaging Het
Nagpa C T 16: 5,021,503 (GRCm39) V83M probably damaging Het
Nrg2 G A 18: 36,154,975 (GRCm39) T503M probably damaging Het
Nrxn3 A G 12: 89,221,789 (GRCm39) M150V possibly damaging Het
Or5p52 C A 7: 107,502,093 (GRCm39) H56Q probably benign Het
Or8g28 A G 9: 39,169,498 (GRCm39) S157P probably damaging Het
Papola T A 12: 105,773,468 (GRCm39) D162E probably benign Het
Plxnc1 T C 10: 94,680,041 (GRCm39) probably null Het
Ppp1r16b T A 2: 158,588,585 (GRCm39) probably null Het
Ptprq T A 10: 107,474,691 (GRCm39) E1338V probably damaging Het
Puf60 G A 15: 75,942,633 (GRCm39) H437Y probably benign Het
Qsox2 C T 2: 26,110,650 (GRCm39) V189I probably benign Het
Rad51ap2 A T 12: 11,507,776 (GRCm39) D566V probably benign Het
Rb1cc1 T A 1: 6,333,237 (GRCm39) probably null Het
Rfpl4b C T 10: 38,697,049 (GRCm39) C184Y possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rundc3a GAGCC GAGCCAGCC 11: 102,291,739 (GRCm39) probably null Het
Scara5 A C 14: 65,968,539 (GRCm39) M271L probably benign Het
Sel1l2 A G 2: 140,127,157 (GRCm39) L118P probably damaging Het
Sema6a T A 18: 47,439,416 (GRCm39) probably benign Het
Siglech T A 7: 55,418,252 (GRCm39) H73Q probably benign Het
Sim1 A G 10: 50,860,205 (GRCm39) D689G probably benign Het
Skp2 T C 15: 9,139,530 (GRCm39) E55G possibly damaging Het
Slc1a1 T A 19: 28,871,869 (GRCm39) V114E probably benign Het
Slc26a6 G A 9: 108,738,916 (GRCm39) G614D probably benign Het
Sptbn2 C T 19: 4,795,992 (GRCm39) Q1724* probably null Het
Tet3 T C 6: 83,345,050 (GRCm39) T1796A probably damaging Het
Tmem117 A C 15: 94,829,714 (GRCm39) D183A possibly damaging Het
Trmt44 A G 5: 35,721,403 (GRCm39) S587P probably benign Het
Ttn G T 2: 76,619,166 (GRCm39) probably benign Het
Tubgcp5 G A 7: 55,458,285 (GRCm39) V399M probably benign Het
Txndc2 T A 17: 65,945,130 (GRCm39) D349V probably damaging Het
Uggt2 T A 14: 119,250,915 (GRCm39) N1194I probably benign Het
Vmn1r178 A T 7: 23,593,329 (GRCm39) I53L probably benign Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Other mutations in Erbin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01092:Erbin APN 13 103,970,520 (GRCm39) missense probably damaging 1.00
IGL01404:Erbin APN 13 103,975,972 (GRCm39) missense probably damaging 1.00
IGL01455:Erbin APN 13 103,995,895 (GRCm39) missense probably damaging 1.00
IGL01871:Erbin APN 13 103,971,274 (GRCm39) missense probably damaging 0.98
IGL01930:Erbin APN 13 103,977,680 (GRCm39) missense probably damaging 1.00
IGL02112:Erbin APN 13 103,998,844 (GRCm39) missense probably benign 0.12
IGL02736:Erbin APN 13 103,975,903 (GRCm39) missense probably damaging 1.00
IGL03149:Erbin APN 13 103,977,671 (GRCm39) missense possibly damaging 0.82
IGL03169:Erbin APN 13 103,977,740 (GRCm39) missense possibly damaging 0.93
regard UTSW 13 103,981,429 (GRCm39) nonsense probably null
wishes UTSW 13 103,979,959 (GRCm39) splice site probably benign
IGL02802:Erbin UTSW 13 104,004,638 (GRCm39) missense probably damaging 1.00
PIT1430001:Erbin UTSW 13 103,996,017 (GRCm39) missense probably damaging 1.00
R0329:Erbin UTSW 13 104,005,373 (GRCm39) missense probably damaging 1.00
R0330:Erbin UTSW 13 104,005,373 (GRCm39) missense probably damaging 1.00
R0492:Erbin UTSW 13 103,970,866 (GRCm39) missense probably damaging 0.98
R0508:Erbin UTSW 13 103,970,535 (GRCm39) missense probably damaging 1.00
R0589:Erbin UTSW 13 104,022,795 (GRCm39) missense probably damaging 1.00
R1103:Erbin UTSW 13 104,022,710 (GRCm39) missense probably benign 0.00
R1139:Erbin UTSW 13 104,020,761 (GRCm39) missense probably damaging 1.00
R1316:Erbin UTSW 13 103,977,742 (GRCm39) missense possibly damaging 0.94
R1675:Erbin UTSW 13 103,977,686 (GRCm39) missense probably damaging 1.00
R1698:Erbin UTSW 13 103,970,239 (GRCm39) missense possibly damaging 0.91
R1727:Erbin UTSW 13 103,964,476 (GRCm39) missense probably benign 0.01
R1745:Erbin UTSW 13 103,975,957 (GRCm39) missense probably damaging 1.00
R1764:Erbin UTSW 13 103,979,959 (GRCm39) splice site probably benign
R1828:Erbin UTSW 13 103,996,577 (GRCm39) critical splice donor site probably null
R1840:Erbin UTSW 13 103,971,455 (GRCm39) missense probably benign 0.01
R1987:Erbin UTSW 13 104,022,711 (GRCm39) missense probably benign 0.36
R1992:Erbin UTSW 13 103,970,221 (GRCm39) missense probably benign 0.33
R2013:Erbin UTSW 13 103,994,041 (GRCm39) missense probably damaging 1.00
R2025:Erbin UTSW 13 103,966,703 (GRCm39) missense probably benign 0.01
R2056:Erbin UTSW 13 103,966,824 (GRCm39) missense probably benign 0.27
R2171:Erbin UTSW 13 103,971,466 (GRCm39) missense probably benign 0.00
R2366:Erbin UTSW 13 103,981,417 (GRCm39) missense probably damaging 1.00
R2897:Erbin UTSW 13 104,022,705 (GRCm39) missense probably damaging 1.00
R3912:Erbin UTSW 13 104,022,846 (GRCm39) splice site probably benign
R3912:Erbin UTSW 13 103,998,795 (GRCm39) missense probably benign 0.35
R4073:Erbin UTSW 13 103,996,619 (GRCm39) missense probably damaging 1.00
R4458:Erbin UTSW 13 103,970,065 (GRCm39) missense probably damaging 1.00
R4465:Erbin UTSW 13 103,981,393 (GRCm39) missense probably benign 0.05
R4525:Erbin UTSW 13 103,993,600 (GRCm39) missense probably benign
R4780:Erbin UTSW 13 104,020,714 (GRCm39) missense probably damaging 1.00
R4877:Erbin UTSW 13 103,987,346 (GRCm39) missense probably damaging 0.99
R4879:Erbin UTSW 13 103,971,282 (GRCm39) missense probably benign 0.05
R5396:Erbin UTSW 13 103,993,917 (GRCm39) critical splice donor site probably null
R5898:Erbin UTSW 13 103,975,813 (GRCm39) critical splice donor site probably null
R5955:Erbin UTSW 13 103,966,700 (GRCm39) missense probably benign 0.40
R6073:Erbin UTSW 13 103,981,429 (GRCm39) nonsense probably null
R6107:Erbin UTSW 13 103,970,400 (GRCm39) missense probably benign 0.06
R6257:Erbin UTSW 13 103,998,796 (GRCm39) missense probably benign 0.35
R6294:Erbin UTSW 13 103,993,564 (GRCm39) missense probably benign 0.36
R6358:Erbin UTSW 13 103,982,073 (GRCm39) missense probably damaging 1.00
R6476:Erbin UTSW 13 103,977,755 (GRCm39) missense probably damaging 1.00
R6485:Erbin UTSW 13 104,004,621 (GRCm39) missense probably damaging 1.00
R6631:Erbin UTSW 13 103,961,400 (GRCm39) missense probably benign 0.02
R6735:Erbin UTSW 13 104,020,718 (GRCm39) missense probably damaging 1.00
R6736:Erbin UTSW 13 103,971,274 (GRCm39) missense possibly damaging 0.72
R6749:Erbin UTSW 13 103,970,885 (GRCm39) missense probably damaging 1.00
R7290:Erbin UTSW 13 103,998,834 (GRCm39) missense probably damaging 1.00
R7767:Erbin UTSW 13 103,995,907 (GRCm39) missense probably damaging 1.00
R8052:Erbin UTSW 13 103,970,864 (GRCm39) nonsense probably null
R8104:Erbin UTSW 13 103,971,485 (GRCm39) missense possibly damaging 0.89
R8140:Erbin UTSW 13 104,056,802 (GRCm39) splice site probably null
R8303:Erbin UTSW 13 103,966,694 (GRCm39) critical splice donor site probably null
R8392:Erbin UTSW 13 103,970,570 (GRCm39) missense probably damaging 1.00
R8811:Erbin UTSW 13 104,022,824 (GRCm39) missense probably damaging 1.00
R8924:Erbin UTSW 13 103,975,966 (GRCm39) nonsense probably null
R9267:Erbin UTSW 13 103,987,292 (GRCm39) missense probably damaging 1.00
R9794:Erbin UTSW 13 103,971,359 (GRCm39) missense probably benign
R9799:Erbin UTSW 13 103,971,384 (GRCm39) missense probably benign
Predicted Primers
Posted On 2014-05-23