Incidental Mutation 'R3829:Neo1'
ID 273897
Institutional Source Beutler Lab
Gene Symbol Neo1
Ensembl Gene ENSMUSG00000032340
Gene Name neogenin
Synonyms 2610028H22Rik, D930014N22Rik, Igdcc2
MMRRC Submission 040776-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3829 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 58781970-58943724 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58820452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 824 (Y824H)
Ref Sequence ENSEMBL: ENSMUSP00000063656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068664] [ENSMUST00000214547]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000068664
AA Change: Y824H

PolyPhen 2 Score 0.582 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000063656
Gene: ENSMUSG00000032340
AA Change: Y824H

DomainStartEndE-ValueType
signal peptide 1 41 N/A INTRINSIC
IGc2 76 147 9.49e-5 SMART
IGc2 175 239 4.43e-5 SMART
IGc2 272 338 6.15e-13 SMART
IGc2 364 428 7.76e-10 SMART
low complexity region 446 458 N/A INTRINSIC
FN3 470 553 8.23e-12 SMART
FN3 570 649 1.78e-16 SMART
FN3 665 749 1.54e-11 SMART
FN3 770 849 5.27e-10 SMART
FN3 885 970 7.63e-7 SMART
FN3 986 1072 2.78e-9 SMART
transmembrane domain 1136 1158 N/A INTRINSIC
Pfam:Neogenin_C 1189 1492 1.9e-122 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214547
AA Change: Y824H

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215026
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217545
Meta Mutation Damage Score 0.1079 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 100% (54/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell surface protein that is a member of the immunoglobulin superfamily. The encoded protein consists of four N-terminal immunoglobulin-like domains, six fibronectin type III domains, a transmembrane domain and a C-terminal internal domain that shares homology with the tumor suppressor candidate gene DCC. This protein may be involved in cell growth and differentiation and in cell-cell adhesion. Defects in this gene are associated with cell proliferation in certain cancers. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a gene trap allele display perinatal lethality and abnormal trigeminal nerve development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik G T 14: 54,821,966 (GRCm39) H466Q probably damaging Het
4933411K16Rik A T 19: 42,041,322 (GRCm39) H151L probably damaging Het
A330008L17Rik A G 8: 100,148,389 (GRCm39) noncoding transcript Het
Abcc5 C A 16: 20,184,615 (GRCm39) V1015L probably benign Het
Bach2 T A 4: 32,563,150 (GRCm39) L539H probably damaging Het
Birc6 A G 17: 74,962,173 (GRCm39) K3929R probably damaging Het
C1qtnf2 A G 11: 43,382,148 (GRCm39) D320G probably benign Het
Cbr2 A T 11: 120,621,278 (GRCm39) H140Q probably benign Het
Cbs T C 17: 31,836,355 (GRCm39) probably benign Het
Cdc42bpg T C 19: 6,367,675 (GRCm39) V1015A probably damaging Het
Cep104 T G 4: 154,069,400 (GRCm39) M207R probably damaging Het
Chil6 A T 3: 106,313,274 (GRCm39) M25K probably benign Het
Cln5 A G 14: 103,310,795 (GRCm39) D154G probably damaging Het
Col4a1 C A 8: 11,259,650 (GRCm39) G1341V probably damaging Het
Commd9 C A 2: 101,727,486 (GRCm39) N93K probably benign Het
Cplane2 C T 4: 140,945,900 (GRCm39) R148C probably damaging Het
Cx3cl1 A T 8: 95,503,934 (GRCm39) probably benign Het
Cyct T C 2: 76,184,512 (GRCm39) K80E probably damaging Het
Dhx37 T C 5: 125,508,677 (GRCm39) K86R probably benign Het
Dnah17 G A 11: 117,931,984 (GRCm39) probably benign Het
Etl4 T C 2: 20,790,232 (GRCm39) V628A probably benign Het
Fam234a T C 17: 26,437,163 (GRCm39) E172G probably benign Het
Foxp2 C T 6: 15,379,830 (GRCm39) probably benign Het
Frem1 A T 4: 82,917,167 (GRCm39) F592Y probably damaging Het
Gm10259 T G 3: 25,266,693 (GRCm39) noncoding transcript Het
Gm17521 C A X: 121,938,922 (GRCm39) G149C unknown Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Grpel1 T A 5: 36,626,827 (GRCm39) N36K probably benign Het
Hap1 G T 11: 100,246,847 (GRCm39) D19E probably damaging Het
Lpcat1 T C 13: 73,637,212 (GRCm39) I114T possibly damaging Het
Mast4 G T 13: 102,875,319 (GRCm39) H1350N probably damaging Het
Mrpl50 T C 4: 49,514,539 (GRCm39) E44G probably damaging Het
Myg1 G C 15: 102,246,171 (GRCm39) G349R probably damaging Het
Myh1 A G 11: 67,096,423 (GRCm39) I301V probably benign Het
Ncapg2 A T 12: 116,370,938 (GRCm39) probably benign Het
Ncor2 T C 5: 125,195,756 (GRCm39) probably benign Het
Or1o4 T A 17: 37,591,140 (GRCm39) Y57F probably damaging Het
Orc1 T A 4: 108,462,828 (GRCm39) M635K probably damaging Het
Phip A G 9: 82,753,698 (GRCm39) I1682T probably benign Het
Ppp2r1b A G 9: 50,773,794 (GRCm39) N223S probably benign Het
Ralb A T 1: 119,399,447 (GRCm39) C204S probably benign Het
Rgs12 G A 5: 35,123,359 (GRCm39) V381M possibly damaging Het
Rtkn2 A T 10: 67,833,456 (GRCm39) probably null Het
Srrm3 A G 5: 135,886,068 (GRCm39) D336G probably damaging Het
Stk11 T C 10: 79,963,782 (GRCm39) probably null Het
Svep1 A G 4: 58,096,177 (GRCm39) L1481P probably damaging Het
Tiam2 C G 17: 3,557,976 (GRCm39) probably benign Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tmprss11b T C 5: 86,809,449 (GRCm39) T348A probably damaging Het
Ube3b C A 5: 114,538,012 (GRCm39) Q368K probably damaging Het
Veph1 T A 3: 66,066,748 (GRCm39) E413D possibly damaging Het
Vmn2r91 T G 17: 18,325,759 (GRCm39) W126G probably damaging Het
Yrdc T A 4: 124,745,554 (GRCm39) M1K probably null Het
Zfp445 T C 9: 122,682,142 (GRCm39) M600V probably benign Het
Other mutations in Neo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Neo1 APN 9 58,829,202 (GRCm39) splice site probably benign
IGL00885:Neo1 APN 9 58,795,746 (GRCm39) missense probably damaging 1.00
IGL01103:Neo1 APN 9 58,788,082 (GRCm39) missense possibly damaging 0.60
IGL01322:Neo1 APN 9 58,814,368 (GRCm39) missense possibly damaging 0.68
IGL02216:Neo1 APN 9 58,824,336 (GRCm39) missense probably damaging 0.96
IGL02327:Neo1 APN 9 58,810,371 (GRCm39) missense probably benign 0.08
IGL02392:Neo1 APN 9 58,833,094 (GRCm39) missense possibly damaging 0.49
IGL02458:Neo1 APN 9 58,801,150 (GRCm39) splice site probably benign
IGL03057:Neo1 APN 9 58,785,342 (GRCm39) missense probably damaging 1.00
IGL03091:Neo1 APN 9 58,885,951 (GRCm39) missense probably damaging 0.98
IGL03193:Neo1 APN 9 58,815,767 (GRCm39) missense probably damaging 1.00
R0097:Neo1 UTSW 9 58,882,021 (GRCm38) intron probably benign
R0419:Neo1 UTSW 9 58,897,463 (GRCm39) splice site probably benign
R0571:Neo1 UTSW 9 58,893,069 (GRCm39) missense probably benign
R0646:Neo1 UTSW 9 58,838,317 (GRCm39) missense probably damaging 1.00
R0736:Neo1 UTSW 9 58,824,364 (GRCm39) missense possibly damaging 0.78
R0739:Neo1 UTSW 9 58,829,160 (GRCm39) missense probably benign 0.22
R1636:Neo1 UTSW 9 58,820,560 (GRCm39) missense probably damaging 1.00
R1694:Neo1 UTSW 9 58,787,886 (GRCm39) missense probably damaging 1.00
R1827:Neo1 UTSW 9 58,824,314 (GRCm39) nonsense probably null
R1927:Neo1 UTSW 9 58,897,668 (GRCm39) missense probably benign 0.12
R2354:Neo1 UTSW 9 58,892,917 (GRCm39) missense probably benign
R2365:Neo1 UTSW 9 58,863,286 (GRCm39) missense probably benign
R3156:Neo1 UTSW 9 58,796,262 (GRCm39) splice site probably null
R3552:Neo1 UTSW 9 58,801,161 (GRCm39) missense probably damaging 1.00
R4477:Neo1 UTSW 9 58,784,582 (GRCm39) missense probably damaging 0.99
R4613:Neo1 UTSW 9 58,796,324 (GRCm39) missense possibly damaging 0.94
R5023:Neo1 UTSW 9 58,897,554 (GRCm39) missense probably damaging 1.00
R5046:Neo1 UTSW 9 58,801,194 (GRCm39) missense possibly damaging 0.77
R5057:Neo1 UTSW 9 58,897,554 (GRCm39) missense probably damaging 1.00
R5323:Neo1 UTSW 9 58,813,931 (GRCm39) critical splice donor site probably null
R5394:Neo1 UTSW 9 58,897,517 (GRCm39) missense probably benign 0.10
R5470:Neo1 UTSW 9 58,838,350 (GRCm39) missense probably damaging 1.00
R5473:Neo1 UTSW 9 58,788,126 (GRCm39) missense possibly damaging 0.88
R5500:Neo1 UTSW 9 58,824,337 (GRCm39) missense possibly damaging 0.94
R5503:Neo1 UTSW 9 58,892,933 (GRCm39) missense possibly damaging 0.67
R6122:Neo1 UTSW 9 58,824,291 (GRCm39) missense probably benign
R6191:Neo1 UTSW 9 58,796,312 (GRCm39) missense probably damaging 1.00
R6431:Neo1 UTSW 9 58,814,354 (GRCm39) missense probably benign 0.27
R6560:Neo1 UTSW 9 58,787,884 (GRCm39) missense possibly damaging 0.95
R6658:Neo1 UTSW 9 58,829,132 (GRCm39) missense probably benign 0.14
R6772:Neo1 UTSW 9 58,810,259 (GRCm39) missense probably damaging 1.00
R6912:Neo1 UTSW 9 58,824,335 (GRCm39) missense probably benign 0.00
R7061:Neo1 UTSW 9 58,897,724 (GRCm39) missense possibly damaging 0.95
R7145:Neo1 UTSW 9 58,796,462 (GRCm39) missense probably damaging 1.00
R7156:Neo1 UTSW 9 58,810,206 (GRCm39) missense probably damaging 1.00
R7485:Neo1 UTSW 9 58,791,826 (GRCm39) missense probably benign 0.04
R7519:Neo1 UTSW 9 58,785,348 (GRCm39) missense probably benign 0.13
R7615:Neo1 UTSW 9 58,791,786 (GRCm39) missense probably benign 0.07
R7665:Neo1 UTSW 9 58,833,078 (GRCm39) missense probably damaging 1.00
R7695:Neo1 UTSW 9 58,810,212 (GRCm39) missense possibly damaging 0.81
R7753:Neo1 UTSW 9 58,863,288 (GRCm39) missense probably benign 0.00
R7807:Neo1 UTSW 9 58,897,777 (GRCm39) missense probably benign 0.01
R7915:Neo1 UTSW 9 58,838,264 (GRCm39) missense probably benign 0.42
R7973:Neo1 UTSW 9 58,897,476 (GRCm39) missense probably damaging 1.00
R8356:Neo1 UTSW 9 58,785,402 (GRCm39) missense probably damaging 1.00
R8505:Neo1 UTSW 9 58,820,566 (GRCm39) missense probably benign 0.02
R8700:Neo1 UTSW 9 58,825,913 (GRCm39) missense probably benign 0.28
R8798:Neo1 UTSW 9 58,820,449 (GRCm39) missense probably damaging 1.00
R8952:Neo1 UTSW 9 58,897,545 (GRCm39) missense probably benign 0.01
R9779:Neo1 UTSW 9 58,886,009 (GRCm39) nonsense probably null
R9784:Neo1 UTSW 9 58,889,503 (GRCm39) missense probably benign
R9789:Neo1 UTSW 9 58,801,307 (GRCm39) critical splice acceptor site probably null
X0063:Neo1 UTSW 9 58,897,581 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GCACTGGATATCGTTCTGTGT -3'
(R):5'- TCGTGTTCCTGAAGTGCC -3'

Sequencing Primer
(F):5'- GAGAGTTACCATGTCTGCAACTGAC -3'
(R):5'- GAAGTGCCCAGCTCTCTTCATG -3'
Posted On 2015-04-02