Incidental Mutation 'R1636:Neo1'
ID 173174
Institutional Source Beutler Lab
Gene Symbol Neo1
Ensembl Gene ENSMUSG00000032340
Gene Name neogenin
Synonyms 2610028H22Rik, D930014N22Rik, Igdcc2
MMRRC Submission 039672-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1636 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 58781970-58943724 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58820560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 788 (S788G)
Ref Sequence ENSEMBL: ENSMUSP00000150600 (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: S788G

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000063656
Gene: ENSMUSG00000032340
AA Change: S788G

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 damaging
Transcript: ENSMUST00000214547
AA Change: S788G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215026
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217545
Meta Mutation Damage Score 0.5605 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.4%
  • 20x: 86.1%
Validation Efficiency 96% (85/89)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C A 6: 121,631,571 (GRCm39) L623M probably benign Het
Abca7 A G 10: 79,844,832 (GRCm39) H1518R probably benign Het
Adam4 A G 12: 81,466,464 (GRCm39) L719S probably damaging Het
Adprm T C 11: 66,932,549 (GRCm39) Y120C possibly damaging Het
Arhgap25 T A 6: 87,472,923 (GRCm39) Y78F probably damaging Het
Asap1 G A 15: 63,995,761 (GRCm39) P665L probably damaging Het
Bank1 T C 3: 135,788,987 (GRCm39) K637R probably damaging Het
Bcr T A 10: 74,966,898 (GRCm39) L502M probably damaging Het
Brwd1 A G 16: 95,860,841 (GRCm39) L315P probably damaging Het
Btbd7 A T 12: 102,760,110 (GRCm39) Y613N probably damaging Het
Cdca7l G A 12: 117,840,663 (GRCm39) R395H probably damaging Het
Cftr T A 6: 18,226,156 (GRCm39) I368K probably damaging Het
D6Wsu163e T C 6: 126,923,564 (GRCm39) V150A possibly damaging Het
Ddx52 A G 11: 83,846,169 (GRCm39) T470A probably damaging Het
Def6 A G 17: 28,442,892 (GRCm39) E316G possibly damaging Het
Dip2a A T 10: 76,157,412 (GRCm39) N64K probably benign Het
Dlgap4 G T 2: 156,587,997 (GRCm39) E631* probably null Het
Dner T C 1: 84,563,051 (GRCm39) K190E possibly damaging Het
Eif2b4 T A 5: 31,349,610 (GRCm39) probably null Het
Eif3a A T 19: 60,770,343 (GRCm39) D119E possibly damaging Het
Ercc2 C T 7: 19,121,049 (GRCm39) T276M possibly damaging Het
Exoc1 A G 5: 76,715,965 (GRCm39) K830R probably benign Het
F2r G T 13: 95,740,400 (GRCm39) Y378* probably null Het
Fam186a G A 15: 99,839,539 (GRCm39) T2235I unknown Het
Fmo3 T G 1: 162,781,994 (GRCm39) K453T probably benign Het
Fzd3 A T 14: 65,490,555 (GRCm39) D9E probably benign Het
Galns A G 8: 123,330,955 (GRCm39) probably benign Het
Gm1818 T C 12: 48,602,550 (GRCm39) noncoding transcript Het
Gm9955 C A 18: 24,842,287 (GRCm39) probably benign Het
Immp2l T C 12: 41,750,470 (GRCm39) V113A probably damaging Het
Iyd T A 10: 3,495,588 (GRCm39) M82K possibly damaging Het
Kif21a A T 15: 90,869,008 (GRCm39) probably benign Het
Lipf A G 19: 33,953,935 (GRCm39) D342G probably damaging Het
Lmbrd1 C A 1: 24,786,011 (GRCm39) Y435* probably null Het
Mpped1 C T 15: 83,676,191 (GRCm39) probably benign Het
Mtrf1l A G 10: 5,763,265 (GRCm39) S355P probably damaging Het
Ndn C T 7: 61,998,256 (GRCm39) P34L probably benign Het
Nfx1 T G 4: 41,016,072 (GRCm39) probably null Het
Nlrp4c T C 7: 6,069,737 (GRCm39) V546A possibly damaging Het
Nwd2 G A 5: 63,964,900 (GRCm39) V1495M probably damaging Het
Oaf T A 9: 43,150,621 (GRCm39) I84F probably benign Het
Obscn A G 11: 59,013,463 (GRCm39) F1153S probably damaging Het
Ofcc1 A T 13: 40,333,904 (GRCm39) C396S possibly damaging Het
Omg A G 11: 79,393,166 (GRCm39) S231P probably benign Het
Or51a7 T G 7: 102,614,898 (GRCm39) I197S possibly damaging Het
Or8g35 T C 9: 39,381,215 (GRCm39) D269G probably benign Het
Pdcl3 A G 1: 39,034,016 (GRCm39) T53A possibly damaging Het
Pik3r2 A T 8: 71,224,542 (GRCm39) H244Q probably benign Het
Pinx1 A T 14: 64,103,586 (GRCm39) H55L probably damaging Het
Pwwp2b T A 7: 138,834,758 (GRCm39) H66Q probably benign Het
Rell2 A G 18: 38,091,132 (GRCm39) D99G probably damaging Het
Reln G A 5: 22,203,681 (GRCm39) A1191V probably damaging Het
Rprm T C 2: 53,975,316 (GRCm39) M1V probably null Het
Sav1 A C 12: 70,031,269 (GRCm39) H84Q probably benign Het
Scamp5 T C 9: 57,358,692 (GRCm39) D28G possibly damaging Het
Selenbp2 G A 3: 94,604,122 (GRCm39) G9D probably damaging Het
Sh3tc2 T C 18: 62,122,792 (GRCm39) W518R probably damaging Het
Slc10a6 A T 5: 103,777,012 (GRCm39) N29K probably benign Het
Spindoc C A 19: 7,351,922 (GRCm39) D142Y probably damaging Het
Spink12 T A 18: 44,240,795 (GRCm39) D60E probably benign Het
Sugt1 A G 14: 79,825,422 (GRCm39) I23V probably benign Het
Syne2 T C 12: 76,051,506 (GRCm39) C4079R probably benign Het
Tex15 T G 8: 34,066,415 (GRCm39) Y1948* probably null Het
Thoc2l T A 5: 104,668,616 (GRCm39) M1046K probably damaging Het
Tln2 T C 9: 67,213,814 (GRCm39) E321G probably damaging Het
Tmem198b A G 10: 128,638,065 (GRCm39) L166P probably damaging Het
Tspear T A 10: 77,706,253 (GRCm39) L341H possibly damaging Het
Ttn T A 2: 76,730,566 (GRCm39) probably benign Het
Unc13a G A 8: 72,106,034 (GRCm39) T690I probably damaging Het
Ush2a T C 1: 188,198,373 (GRCm39) I1479T possibly damaging Het
Vcan G A 13: 89,851,786 (GRCm39) T1058I possibly damaging Het
Vmn1r84 T C 7: 12,096,522 (GRCm39) Q45R probably benign Het
Vmn2r111 T C 17: 22,790,380 (GRCm39) N209D probably damaging Het
Wbp1l A G 19: 46,632,883 (GRCm39) Y40C probably damaging Het
Wdr72 A T 9: 74,086,907 (GRCm39) H625L probably benign Het
Zeb2 T C 2: 44,892,623 (GRCm39) Y195C probably damaging Het
Zkscan6 C T 11: 65,705,256 (GRCm39) probably benign Het
Zmym6 C A 4: 127,017,560 (GRCm39) H1022N probably damaging 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
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
R3829:Neo1 UTSW 9 58,820,452 (GRCm39) missense possibly damaging 0.58
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'- GTTATCCCTTCCACCTAGCAAGCATAC -3'
(R):5'- TGGGGAGACCAAAGACCTATTCTGAG -3'

Sequencing Primer
(F):5'- GCATACCCAAGTTTTCGATGG -3'
(R):5'- CTTGGCCTAAATATTGTTAAAGCCC -3'
Posted On 2014-04-24