Incidental Mutation 'R2354:Neo1'
ID 246833
Institutional Source Beutler Lab
Gene Symbol Neo1
Ensembl Gene ENSMUSG00000032340
Gene Name neogenin
Synonyms 2610028H22Rik, D930014N22Rik, Igdcc2
MMRRC Submission 040336-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2354 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 58874687-59036441 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58985634 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 242 (F242L)
Ref Sequence ENSEMBL: ENSMUSP00000150600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068664] [ENSMUST00000214547]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000068664
AA Change: F242L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000063656
Gene: ENSMUSG00000032340
AA Change: F242L

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: F242L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215026
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216941
Predicted Effect probably benign
Transcript: ENSMUST00000216964
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217545
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency 97% (34/35)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444G20Rik G T 10: 22,067,256 (GRCm38) T275K probably benign Het
Ap3b2 C T 7: 81,473,850 (GRCm38) probably benign Het
B4galt3 C A 1: 171,274,043 (GRCm38) H196N probably damaging Het
Bpifb9b C T 2: 154,311,742 (GRCm38) L243F probably benign Het
Cd226 A T 18: 89,246,983 (GRCm38) probably null Het
Cdh15 G A 8: 122,862,024 (GRCm38) R279Q probably damaging Het
Cep295 A G 9: 15,334,784 (GRCm38) I792T possibly damaging Het
Cfap46 T C 7: 139,661,046 (GRCm38) Y469C probably damaging Het
Col9a2 C G 4: 121,054,258 (GRCm38) R599G probably damaging Het
D630045J12Rik G A 6: 38,158,091 (GRCm38) P1385S possibly damaging Het
Ddb1 A T 19: 10,606,973 (GRCm38) M64L probably benign Het
Dyrk1b G A 7: 28,185,372 (GRCm38) R404Q possibly damaging Het
Gal3st2b A G 1: 93,939,786 (GRCm38) T52A probably damaging Het
Galk2 C A 2: 125,931,273 (GRCm38) S208R probably benign Het
Gm6169 G A 13: 97,098,801 (GRCm38) T146I probably damaging Het
Hap1 A T 11: 100,354,715 (GRCm38) I141N probably damaging Het
Hif3a T C 7: 17,041,105 (GRCm38) S523G probably damaging Het
Kirrel C T 3: 87,088,485 (GRCm38) V381I probably damaging Het
Lmbrd1 T C 1: 24,685,541 (GRCm38) S69P probably damaging Het
Lrriq1 C T 10: 103,189,987 (GRCm38) V925M probably damaging Het
Mmp16 A G 4: 18,112,001 (GRCm38) Y459C probably damaging Het
Mtr A G 13: 12,188,157 (GRCm38) probably benign Het
Nadk2 T A 15: 9,085,782 (GRCm38) I167N probably damaging Het
Pitpnm2 A T 5: 124,122,919 (GRCm38) V1010E probably damaging Het
Shox2 A G 3: 66,981,489 (GRCm38) I23T possibly damaging Het
Slc5a12 T C 2: 110,609,432 (GRCm38) V141A probably damaging Het
Sstr5 A G 17: 25,491,901 (GRCm38) I118T probably benign Het
Taar4 A G 10: 23,961,014 (GRCm38) N174S probably damaging Het
Tpcn2 C A 7: 145,257,218 (GRCm38) G581W probably damaging Het
Umod C T 7: 119,466,193 (GRCm38) V538M probably damaging Het
Vmn2r44 T G 7: 8,370,640 (GRCm38) S517R probably damaging Het
Zc3h12d G T 10: 7,867,938 (GRCm38) V491L probably benign Het
Zfp358 A T 8: 3,495,454 (GRCm38) H12L possibly damaging Het
Zkscan7 A G 9: 122,894,827 (GRCm38) D287G probably benign Het
Other mutations in Neo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Neo1 APN 9 58,921,919 (GRCm38) splice site probably benign
IGL00885:Neo1 APN 9 58,888,463 (GRCm38) missense probably damaging 1.00
IGL01103:Neo1 APN 9 58,880,799 (GRCm38) missense possibly damaging 0.60
IGL01322:Neo1 APN 9 58,907,085 (GRCm38) missense possibly damaging 0.68
IGL02216:Neo1 APN 9 58,917,053 (GRCm38) missense probably damaging 0.96
IGL02327:Neo1 APN 9 58,903,088 (GRCm38) missense probably benign 0.08
IGL02392:Neo1 APN 9 58,925,811 (GRCm38) missense possibly damaging 0.49
IGL02458:Neo1 APN 9 58,893,867 (GRCm38) splice site probably benign
IGL03057:Neo1 APN 9 58,878,059 (GRCm38) missense probably damaging 1.00
IGL03091:Neo1 APN 9 58,978,668 (GRCm38) missense probably damaging 0.98
IGL03193:Neo1 APN 9 58,908,484 (GRCm38) missense probably damaging 1.00
R0097:Neo1 UTSW 9 58,882,021 (GRCm38) intron probably benign
R0419:Neo1 UTSW 9 58,990,180 (GRCm38) splice site probably benign
R0571:Neo1 UTSW 9 58,985,786 (GRCm38) missense probably benign
R0646:Neo1 UTSW 9 58,931,034 (GRCm38) missense probably damaging 1.00
R0736:Neo1 UTSW 9 58,917,081 (GRCm38) missense possibly damaging 0.78
R0739:Neo1 UTSW 9 58,921,877 (GRCm38) missense probably benign 0.22
R1636:Neo1 UTSW 9 58,913,277 (GRCm38) missense probably damaging 1.00
R1694:Neo1 UTSW 9 58,880,603 (GRCm38) missense probably damaging 1.00
R1827:Neo1 UTSW 9 58,917,031 (GRCm38) nonsense probably null
R1927:Neo1 UTSW 9 58,990,385 (GRCm38) missense probably benign 0.12
R2365:Neo1 UTSW 9 58,956,003 (GRCm38) missense probably benign
R3156:Neo1 UTSW 9 58,888,979 (GRCm38) splice site probably null
R3552:Neo1 UTSW 9 58,893,878 (GRCm38) missense probably damaging 1.00
R3829:Neo1 UTSW 9 58,913,169 (GRCm38) missense possibly damaging 0.58
R4477:Neo1 UTSW 9 58,877,299 (GRCm38) missense probably damaging 0.99
R4613:Neo1 UTSW 9 58,889,041 (GRCm38) missense possibly damaging 0.94
R5023:Neo1 UTSW 9 58,990,271 (GRCm38) missense probably damaging 1.00
R5046:Neo1 UTSW 9 58,893,911 (GRCm38) missense possibly damaging 0.77
R5057:Neo1 UTSW 9 58,990,271 (GRCm38) missense probably damaging 1.00
R5323:Neo1 UTSW 9 58,906,648 (GRCm38) critical splice donor site probably null
R5394:Neo1 UTSW 9 58,990,234 (GRCm38) missense probably benign 0.10
R5470:Neo1 UTSW 9 58,931,067 (GRCm38) missense probably damaging 1.00
R5473:Neo1 UTSW 9 58,880,843 (GRCm38) missense possibly damaging 0.88
R5500:Neo1 UTSW 9 58,917,054 (GRCm38) missense possibly damaging 0.94
R5503:Neo1 UTSW 9 58,985,650 (GRCm38) missense possibly damaging 0.67
R6122:Neo1 UTSW 9 58,917,008 (GRCm38) missense probably benign
R6191:Neo1 UTSW 9 58,889,029 (GRCm38) missense probably damaging 1.00
R6431:Neo1 UTSW 9 58,907,071 (GRCm38) missense probably benign 0.27
R6560:Neo1 UTSW 9 58,880,601 (GRCm38) missense possibly damaging 0.95
R6658:Neo1 UTSW 9 58,921,849 (GRCm38) missense probably benign 0.14
R6772:Neo1 UTSW 9 58,902,976 (GRCm38) missense probably damaging 1.00
R6912:Neo1 UTSW 9 58,917,052 (GRCm38) missense probably benign 0.00
R7061:Neo1 UTSW 9 58,990,441 (GRCm38) missense possibly damaging 0.95
R7145:Neo1 UTSW 9 58,889,179 (GRCm38) missense probably damaging 1.00
R7156:Neo1 UTSW 9 58,902,923 (GRCm38) missense probably damaging 1.00
R7485:Neo1 UTSW 9 58,884,543 (GRCm38) missense probably benign 0.04
R7519:Neo1 UTSW 9 58,878,065 (GRCm38) missense probably benign 0.13
R7615:Neo1 UTSW 9 58,884,503 (GRCm38) missense probably benign 0.07
R7665:Neo1 UTSW 9 58,925,795 (GRCm38) missense probably damaging 1.00
R7695:Neo1 UTSW 9 58,902,929 (GRCm38) missense possibly damaging 0.81
R7753:Neo1 UTSW 9 58,956,005 (GRCm38) missense probably benign 0.00
R7807:Neo1 UTSW 9 58,990,494 (GRCm38) missense probably benign 0.01
R7915:Neo1 UTSW 9 58,930,981 (GRCm38) missense probably benign 0.42
R7973:Neo1 UTSW 9 58,990,193 (GRCm38) missense probably damaging 1.00
R8356:Neo1 UTSW 9 58,878,119 (GRCm38) missense probably damaging 1.00
R8505:Neo1 UTSW 9 58,913,283 (GRCm38) missense probably benign 0.02
R8700:Neo1 UTSW 9 58,918,630 (GRCm38) missense probably benign 0.28
R8798:Neo1 UTSW 9 58,913,166 (GRCm38) missense probably damaging 1.00
R8952:Neo1 UTSW 9 58,990,262 (GRCm38) missense probably benign 0.01
R9779:Neo1 UTSW 9 58,978,726 (GRCm38) nonsense probably null
R9784:Neo1 UTSW 9 58,982,220 (GRCm38) missense probably benign
R9789:Neo1 UTSW 9 58,894,024 (GRCm38) critical splice acceptor site probably null
X0063:Neo1 UTSW 9 58,990,298 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CACTACACCTGGCTTTGAACAG -3'
(R):5'- CAGTCTATGTTGGAAACAGTGC -3'

Sequencing Primer
(F):5'- GAACAGTGAATTTTTATGGCCCCTC -3'
(R):5'- TGTTGGAAACAGTGCAATTCTG -3'
Posted On 2014-10-30