Incidental Mutation 'R5473:Neo1'
ID 433932
Institutional Source Beutler Lab
Gene Symbol Neo1
Ensembl Gene ENSMUSG00000032340
Gene Name neogenin
Synonyms 2610028H22Rik, D930014N22Rik, Igdcc2
MMRRC Submission 043034-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5473 (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 58788126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1309 (N1309S)
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: N1336S

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000063656
Gene: ENSMUSG00000032340
AA Change: N1336S

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 possibly damaging
Transcript: ENSMUST00000214547
AA Change: N1309S

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
Meta Mutation Damage Score 0.0841 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.6%
Validation Efficiency 100% (66/66)
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
Acsm4 T C 7: 119,312,173 (GRCm39) Y549H probably damaging Het
Adamtsl4 G T 3: 95,587,303 (GRCm39) Q758K probably damaging Het
Anapc1 G T 2: 128,449,115 (GRCm39) probably benign Het
Ankrd26 A T 6: 118,492,797 (GRCm39) C1316S probably benign Het
Birc5 T C 11: 117,743,533 (GRCm39) V89A possibly damaging Het
Camk2d G T 3: 126,391,048 (GRCm39) probably benign Het
Ccdc47 A T 11: 106,095,855 (GRCm39) S280R probably damaging Het
Cntnap5a T A 1: 116,016,986 (GRCm39) F193Y probably benign Het
Cntrob G T 11: 69,213,579 (GRCm39) D70E possibly damaging Het
Col24a1 A C 3: 145,243,016 (GRCm39) M1519L probably benign Het
Col2a1 G T 15: 97,885,370 (GRCm39) A491D unknown Het
Crat A G 2: 30,297,726 (GRCm39) L266P probably damaging Het
Dlgap1 A T 17: 70,824,025 (GRCm39) probably benign Het
Dnaaf10 T C 11: 17,174,591 (GRCm39) V153A probably damaging Het
Eya4 T A 10: 23,039,351 (GRCm39) H104L probably benign Het
Fam83b T C 9: 76,398,782 (GRCm39) K774E probably damaging Het
Fgd6 T C 10: 93,880,538 (GRCm39) I464T probably benign Het
Gorasp2 A C 2: 70,508,950 (GRCm39) M123L probably damaging Het
H2-M10.3 A T 17: 36,678,261 (GRCm39) V188E probably damaging Het
Hnrnpk A T 13: 58,541,913 (GRCm39) W333R probably damaging Het
Hrh4 T C 18: 13,154,985 (GRCm39) Y175H probably benign Het
Igf2r G T 17: 12,914,201 (GRCm39) T1756K probably benign Het
Kcnq5 A G 1: 21,527,626 (GRCm39) probably null Het
Kiz G T 2: 146,811,915 (GRCm39) E675* probably null Het
Mcm3ap T G 10: 76,338,593 (GRCm39) L1407R probably damaging Het
Mdc1 A G 17: 36,158,952 (GRCm39) D444G probably benign Het
Myl3 C A 9: 110,597,026 (GRCm39) H129N probably damaging Het
Nrxn1 A T 17: 90,897,520 (GRCm39) Y269N probably damaging Het
Nsd1 A G 13: 55,395,585 (GRCm39) N1165S probably damaging Het
Nuf2 T C 1: 169,334,856 (GRCm39) D302G probably benign Het
Olfr908 A G 9: 38,427,508 (GRCm39) Y60C probably damaging Het
Or10j3 G C 1: 173,031,732 (GRCm39) G270R probably benign Het
Or14j1 T C 17: 38,146,630 (GRCm39) F247L probably benign Het
Or5d38 A T 2: 87,954,981 (GRCm39) M116K possibly damaging Het
Oxsm A T 14: 16,242,045 (GRCm38) S241R probably damaging Het
Pde1a G T 2: 79,736,372 (GRCm39) S87R probably damaging Het
Plagl2 A T 2: 153,074,114 (GRCm39) C262* probably null Het
Plcg2 A G 8: 118,361,140 (GRCm39) K1233R probably benign Het
Pon3 A T 6: 5,256,177 (GRCm39) I17K possibly damaging Het
Ppfia1 A T 7: 144,045,229 (GRCm39) M951K probably benign Het
Pramel12 A G 4: 143,145,874 (GRCm39) R448G probably damaging Het
Prpf31 A G 7: 3,642,824 (GRCm39) K438E probably benign Het
Pum3 C A 19: 27,396,248 (GRCm39) V328F probably damaging Het
Ralgapa1 T C 12: 55,723,495 (GRCm39) E1677G probably benign Het
Rpf2 A G 10: 40,103,627 (GRCm39) V96A possibly damaging Het
Rsrc2 C T 5: 123,869,150 (GRCm39) A98T probably damaging Het
Saraf G A 8: 34,628,412 (GRCm39) R86Q probably damaging Het
Scara5 T A 14: 65,977,788 (GRCm39) D349E possibly damaging Het
Slc30a1 T C 1: 191,641,734 (GRCm39) V460A possibly damaging Het
Tdrd7 G T 4: 46,020,877 (GRCm39) V768L possibly damaging Het
Tshz2 T C 2: 169,725,718 (GRCm39) S105P probably benign Het
Ufsp2 A G 8: 46,445,258 (GRCm39) I362M probably damaging Het
Ugt1a7c T A 1: 88,023,159 (GRCm39) I106K probably benign Het
Zdhhc5 A G 2: 84,520,810 (GRCm39) Y456H 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
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
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
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'- ACAGTAATGGTGTGCTTGGCAG -3'
(R):5'- ATTCTTAGCCTTGGCTGTCG -3'

Sequencing Primer
(F):5'- CTTGGCAGTGCAGGATCATAG -3'
(R):5'- GCTGTCGTCCTGATCCGTG -3'
Posted On 2016-10-06