Incidental Mutation 'R0329:Erbin'
ID 189153
Institutional Source Beutler Lab
Gene Symbol Erbin
Ensembl Gene ENSMUSG00000021709
Gene Name Erbb2 interacting protein
Synonyms 1700028E05Rik, Erbb2ip, Erbin
MMRRC Submission 038538-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0329 (G1)
Quality Score 70
Status Validated
Chromosome 13
Chromosomal Location 103955295-104057022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 104005373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 114 (C114F)
Ref Sequence ENSEMBL: ENSMUSP00000140931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022222] [ENSMUST00000053927] [ENSMUST00000091269] [ENSMUST00000169083] [ENSMUST00000188997] [ENSMUST00000191275]
AlphaFold Q80TH2
Predicted Effect probably benign
Transcript: ENSMUST00000022222
AA Change: C114F

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000022222
Gene: ENSMUSG00000021709
AA Change: C114F

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: C114F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057956
Gene: ENSMUSG00000021709
AA Change: C114F

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: C114F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000088813
Gene: ENSMUSG00000021709
AA Change: C114F

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: C114F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127607
Gene: ENSMUSG00000021709
AA Change: C114F

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: C114F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140931
Gene: ENSMUSG00000021709
AA Change: C114F

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: C114F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140536
Gene: ENSMUSG00000021709
AA Change: C114F

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 0.5833 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 95.0%
  • 20x: 89.0%
Validation Efficiency 99% (107/108)
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: 107 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,349,430 (GRCm39) H3668L 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
Adam28 T C 14: 68,855,188 (GRCm39) K651R 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
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Anxa7 A C 14: 20,519,566 (GRCm39) probably null Het
Arb2a T A 13: 77,910,070 (GRCm39) probably benign Het
Arhgap22 A G 14: 33,091,374 (GRCm39) R650G possibly damaging Het
Atp8a1 T A 5: 67,969,416 (GRCm39) probably benign 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
Casp12 T A 9: 5,345,534 (GRCm39) probably benign Het
Ccno T A 13: 113,126,530 (GRCm39) L333Q probably damaging Het
Cdhr2 T A 13: 54,882,614 (GRCm39) probably benign Het
Cftr T A 6: 18,226,096 (GRCm39) M318K probably null Het
Ckmt2 T A 13: 92,011,322 (GRCm39) D96V possibly damaging Het
Cnnm1 C T 19: 43,430,349 (GRCm39) P489L probably damaging Het
Cntnap1 A T 11: 101,079,135 (GRCm39) D1175V probably damaging Het
Cpne5 A T 17: 29,430,634 (GRCm39) L92H probably damaging Het
Crcp C A 5: 130,071,083 (GRCm39) Q61K possibly damaging Het
Crppa C T 12: 36,431,837 (GRCm39) A22V possibly damaging Het
Dcaf8 T A 1: 172,014,978 (GRCm39) D414E probably benign Het
Ddx28 T C 8: 106,736,877 (GRCm39) T394A probably benign Het
Ddx55 T C 5: 124,697,210 (GRCm39) F191L probably benign Het
Dnaaf1 T C 8: 120,322,756 (GRCm39) probably benign Het
Dnaaf2 C A 12: 69,244,518 (GRCm39) R181L probably damaging Het
Elac2 A G 11: 64,870,136 (GRCm39) Y67C probably damaging Het
Elf5 A G 2: 103,260,765 (GRCm39) probably benign Het
Emcn T A 3: 137,122,575 (GRCm39) probably benign Het
Erbb4 T C 1: 68,337,439 (GRCm39) probably benign Het
Etfdh T C 3: 79,517,151 (GRCm39) I353V probably benign Het
Fads2b T A 2: 85,348,895 (GRCm39) R72S probably benign Het
Fbxl12 C T 9: 20,549,776 (GRCm39) G316D probably damaging Het
Gbf1 G A 19: 46,260,709 (GRCm39) probably null Het
Gbp2b T G 3: 142,313,937 (GRCm39) S406A probably benign 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
Gp1ba A G 11: 70,531,235 (GRCm39) probably benign Het
Gramd1a T C 7: 30,837,679 (GRCm39) D360G possibly damaging Het
Hectd4 T C 5: 121,397,927 (GRCm39) I285T probably benign Het
Hrh4 A G 18: 13,140,302 (GRCm39) probably benign Het
Hsp90b1 T C 10: 86,530,019 (GRCm39) E226G probably damaging Het
Hspa13 A T 16: 75,562,018 (GRCm39) D60E probably damaging Het
Htt T A 5: 34,974,478 (GRCm39) probably benign Het
Iqca1l T C 5: 24,750,783 (GRCm39) probably null Het
Kif14 G C 1: 136,423,764 (GRCm39) probably benign Het
Kit T G 5: 75,813,489 (GRCm39) V888G probably damaging Het
Lpin3 T C 2: 160,747,225 (GRCm39) V827A probably benign Het
Lrriq4 T C 3: 30,709,873 (GRCm39) S406P probably benign Het
Man2c1 T C 9: 57,048,467 (GRCm39) V777A probably benign Het
Mcm8 A G 2: 132,661,914 (GRCm39) K83E possibly 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
Myo9a C G 9: 59,830,960 (GRCm39) T2368S probably damaging Het
Nbeal1 A G 1: 60,307,222 (GRCm39) Y1684C probably damaging Het
Npm3 A G 19: 45,737,965 (GRCm39) F11L probably benign Het
Nutf2 T A 8: 106,602,995 (GRCm39) S37T probably damaging Het
Obscn T A 11: 58,931,267 (GRCm39) I5790F probably damaging Het
Obscn A T 11: 58,943,332 (GRCm39) D4833E probably damaging Het
Or2g1 A T 17: 38,106,880 (GRCm39) M182L probably benign Het
Or7d9 T A 9: 20,197,153 (GRCm39) S61T possibly damaging Het
Or8g35 T C 9: 39,381,852 (GRCm39) T57A possibly damaging Het
Or9g4b T A 2: 85,616,147 (GRCm39) C97* probably null Het
Pcdhb1 A G 18: 37,400,077 (GRCm39) D676G possibly damaging Het
Pcif1 G T 2: 164,731,364 (GRCm39) R466L probably damaging Het
Pdk1 T C 2: 71,726,018 (GRCm39) probably benign Het
Phxr2 T C 10: 98,961,979 (GRCm39) probably benign Het
Pidd1 A T 7: 141,019,474 (GRCm39) probably benign Het
Plec A G 15: 76,075,618 (GRCm39) probably null Het
Polr1a T A 6: 71,943,400 (GRCm39) C1212S possibly damaging Het
Pot1a A G 6: 25,778,830 (GRCm39) probably benign Het
Prdm5 T C 6: 65,839,887 (GRCm39) probably benign Het
Primpol A T 8: 47,063,496 (GRCm39) N53K probably damaging Het
Pyroxd1 A G 6: 142,307,702 (GRCm39) I491V probably benign Het
Serpinb3b G T 1: 107,087,433 (GRCm39) N25K probably damaging Het
Slc9b1 C T 3: 135,078,996 (GRCm39) R218* probably null Het
Ssbp2 T A 13: 91,828,698 (GRCm39) probably null Het
Stat4 A G 1: 52,130,029 (GRCm39) probably benign Het
Steap4 T C 5: 8,025,829 (GRCm39) V130A possibly damaging Het
Stoml2 A G 4: 43,030,238 (GRCm39) probably null Het
Syne2 G T 12: 76,013,727 (GRCm39) G2974C probably benign Het
Tfdp2 T G 9: 96,188,946 (GRCm39) F200V probably damaging Het
Tgm4 T C 9: 122,877,622 (GRCm39) probably null Het
Tie1 C A 4: 118,341,924 (GRCm39) R175L probably benign Het
Tmem145 A G 7: 25,008,099 (GRCm39) probably benign Het
Tsacc A G 3: 88,190,169 (GRCm39) S94P possibly 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
Ugt2b35 A G 5: 87,151,264 (GRCm39) K290R probably null Het
Unc80 T C 1: 66,713,246 (GRCm39) L2788P possibly damaging Het
Usp10 T A 8: 120,663,296 (GRCm39) C39* probably null 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
Vmn2r7 C A 3: 64,598,439 (GRCm39) C797F 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
Wdr27 A G 17: 15,154,721 (GRCm39) probably benign Het
Ythdc2 A G 18: 44,998,127 (GRCm39) probably benign Het
Zcwpw2 C A 9: 117,843,123 (GRCm39) noncoding transcript Het
Zdhhc1 C A 8: 106,210,175 (GRCm39) A81S probably benign Het
Zfp729a G T 13: 67,768,473 (GRCm39) H585Q probably damaging 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
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
R1746:Erbin UTSW 13 103,987,339 (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 2014-05-13