Incidental Mutation 'R1745:Erbin'
ID 193946
Institutional Source Beutler Lab
Gene Symbol Erbin
Ensembl Gene ENSMUSG00000021709
Gene Name Erbb2 interacting protein
Synonyms 1700028E05Rik, Erbb2ip, Erbin
MMRRC Submission 039777-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1745 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 103955295-104057022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 103975957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 646 (H646N)
Ref Sequence ENSEMBL: ENSMUSP00000140536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022222] [ENSMUST00000053927] [ENSMUST00000091269] [ENSMUST00000169083] [ENSMUST00000188997] [ENSMUST00000191275]
AlphaFold Q80TH2
Predicted Effect possibly damaging
Transcript: ENSMUST00000022222
AA Change: H646N

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022222
Gene: ENSMUSG00000021709
AA Change: H646N

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: H646N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000057956
Gene: ENSMUSG00000021709
AA Change: H646N

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: H646N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000088813
Gene: ENSMUSG00000021709
AA Change: H646N

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 possibly damaging
Transcript: ENSMUST00000169083
AA Change: H646N

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000127607
Gene: ENSMUSG00000021709
AA Change: H646N

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 possibly damaging
Transcript: ENSMUST00000188997
AA Change: H646N

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140931
Gene: ENSMUSG00000021709
AA Change: H646N

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: H646N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140536
Gene: ENSMUSG00000021709
AA Change: H646N

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 0.1043 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
Validation Efficiency 98% (54/55)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A T 17: 46,623,359 (GRCm39) V851E probably benign Het
Adam28 A G 14: 68,870,620 (GRCm39) I351T probably benign Het
Agrp G T 8: 106,293,467 (GRCm39) T106K probably damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Ap2a1 T C 7: 44,556,369 (GRCm39) E285G probably damaging Het
Arfgef1 A C 1: 10,243,480 (GRCm39) I1023R probably damaging Het
Atp2c2 G A 8: 120,451,833 (GRCm39) V133I probably benign Het
Bpifb6 A G 2: 153,753,403 (GRCm39) T401A possibly damaging Het
Capn3 G A 2: 120,320,170 (GRCm39) V283M possibly damaging Het
Chd6 A T 2: 160,823,587 (GRCm39) V1261E probably damaging Het
Col22a1 C T 15: 71,878,636 (GRCm39) A174T probably damaging Het
Crnn T C 3: 93,054,198 (GRCm39) V27A probably benign Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dgkd T C 1: 87,859,766 (GRCm39) probably null Het
Diaph3 A G 14: 87,203,996 (GRCm39) L554P probably damaging Het
Ephb4 A T 5: 137,358,696 (GRCm39) H293L probably benign Het
Faiml T C 9: 99,116,511 (GRCm39) N60D probably benign Het
Fem1al A G 11: 29,774,723 (GRCm39) S245P probably benign Het
Flot1 A G 17: 36,135,552 (GRCm39) E102G probably damaging Het
Fryl G A 5: 73,190,204 (GRCm39) probably benign Het
Gad1-ps A T 10: 99,281,386 (GRCm39) noncoding transcript Het
Gtf3c3 A G 1: 54,473,371 (GRCm39) S81P probably damaging Het
Hs1bp3 C T 12: 8,371,690 (GRCm39) Q91* probably null Het
Igf1r T C 7: 67,819,661 (GRCm39) C324R probably damaging Het
Il23r G A 6: 67,443,275 (GRCm39) T276I probably damaging Het
Ip6k1 G A 9: 107,918,195 (GRCm39) E77K possibly damaging Het
Kctd1 A T 18: 15,196,263 (GRCm39) probably benign Het
Kmt2b A T 7: 30,285,275 (GRCm39) M539K possibly damaging Het
Man2b1 T A 8: 85,820,563 (GRCm39) F617I probably damaging Het
Med15 G A 16: 17,473,570 (GRCm39) probably benign Het
Myo9b A G 8: 71,806,691 (GRCm39) K1543R probably damaging Het
N4bp2 A G 5: 65,948,165 (GRCm39) Y265C probably benign Het
N4bp2l2 A T 5: 150,585,424 (GRCm39) N185K probably benign Het
Nkx2-1 A G 12: 56,580,529 (GRCm39) M137T probably benign Het
Or51q1c A G 7: 103,653,270 (GRCm39) T269A probably benign Het
Prickle2 A T 6: 92,353,574 (GRCm39) Y631N probably damaging Het
Ptpro A G 6: 137,377,643 (GRCm39) T698A probably benign Het
Rapgef3 T C 15: 97,648,059 (GRCm39) I690V probably benign Het
Rnf44 G A 13: 54,830,005 (GRCm39) R271W probably damaging Het
Rundc3a GAGCC GAGCCAGCC 11: 102,291,739 (GRCm39) probably null Het
Ryr2 A G 13: 11,805,153 (GRCm39) Y904H probably damaging Het
Suz12 T C 11: 79,912,922 (GRCm39) L322P probably damaging Het
Tnfsf13 G A 11: 69,575,973 (GRCm39) A38V probably benign Het
Topbp1 G A 9: 103,186,044 (GRCm39) R62H probably benign Het
Tor1aip1 G T 1: 155,906,180 (GRCm39) probably null Het
Trpv4 A T 5: 114,771,215 (GRCm39) V438E probably damaging Het
Tsku A T 7: 98,001,386 (GRCm39) V315E possibly damaging Het
Ttc38 T C 15: 85,717,373 (GRCm39) L16P probably damaging Het
Vmn1r170 A G 7: 23,305,759 (GRCm39) I54V probably damaging Het
Vmn1r71 T C 7: 10,482,196 (GRCm39) D98G probably benign Het
Wdfy3 A T 5: 102,096,795 (GRCm39) D334E probably damaging Het
Zfhx3 T A 8: 109,682,494 (GRCm39) F3311Y unknown Het
Zswim9 A G 7: 13,003,482 (GRCm39) S123P 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
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
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 PCR Primer
(F):5'- AAATGCACACAGACCTGACTTTGGA -3'
(R):5'- CACCTCACACATGGAGAGATTACCAC -3'

Sequencing Primer
(F):5'- GAGTTACTATCCACGGGAGTC -3'
(R):5'- tgtttacatttgaaataaaGGAACCG -3'
Posted On 2014-05-23