Incidental Mutation 'R3552:Neo1'
ID 269000
Institutional Source Beutler Lab
Gene Symbol Neo1
Ensembl Gene ENSMUSG00000032340
Gene Name neogenin
Synonyms 2610028H22Rik, D930014N22Rik, Igdcc2
MMRRC Submission 040669-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3552 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 58874687-59036441 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58893878 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 1140 (K1140M)
Ref Sequence ENSEMBL: ENSMUSP00000150600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068664] [ENSMUST00000214547]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000068664
AA Change: K1167M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000063656
Gene: ENSMUSG00000032340
AA Change: K1167M

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: K1140M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215165
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.4%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009O20Rik A G 18: 38,258,365 (GRCm38) probably benign Het
Acaca T A 11: 84,261,624 (GRCm38) Y866N probably damaging Het
Agk A G 6: 40,394,681 (GRCm38) T371A probably benign Het
Akna T C 4: 63,398,124 (GRCm38) M1V probably null Het
Aldh7a1 T C 18: 56,550,292 (GRCm38) probably null Het
Ankrd26 A T 6: 118,507,776 (GRCm38) L1500H probably damaging Het
Atp13a5 T A 16: 29,310,766 (GRCm38) D452V probably damaging Het
Bahcc1 C T 11: 120,276,772 (GRCm38) T1333M possibly damaging Het
Carmil3 G T 14: 55,507,402 (GRCm38) R1276L possibly damaging Het
Ccni T C 5: 93,187,761 (GRCm38) S173G probably benign Het
Chrm2 A T 6: 36,523,810 (GRCm38) I201F probably damaging Het
Col16a1 A G 4: 130,077,041 (GRCm38) T618A probably benign Het
Dock2 T C 11: 34,720,960 (GRCm38) Y192C probably benign Het
Ep400 T A 5: 110,729,287 (GRCm38) E821V unknown Het
Esrrg G A 1: 188,150,190 (GRCm38) V215I probably benign Het
Evx1 A T 6: 52,316,923 (GRCm38) S359C probably damaging Het
Fcrls A G 3: 87,259,410 (GRCm38) I92T possibly damaging Het
Gal3st1 T A 11: 3,998,110 (GRCm38) F106I possibly damaging Het
Gm9944 T C 4: 144,453,043 (GRCm38) probably benign Het
Hjurp GT GTT 1: 88,266,524 (GRCm38) probably null Het
Hrc G C 7: 45,336,333 (GRCm38) E303Q possibly damaging Het
Kcnh1 A G 1: 192,238,766 (GRCm38) N118D probably damaging Het
Khdrbs1 A G 4: 129,720,791 (GRCm38) I323T possibly damaging Het
Klhdc7b T C 15: 89,387,521 (GRCm38) Y869H probably benign Het
Lrrc4c T A 2: 97,629,961 (GRCm38) W311R probably damaging Het
Megf11 A G 9: 64,695,463 (GRCm38) D862G possibly damaging Het
Muc5b A G 7: 141,861,335 (GRCm38) T2673A possibly damaging Het
Muc5b A G 7: 141,867,705 (GRCm38) S4311G probably benign Het
Myo15 C T 11: 60,509,663 (GRCm38) A1767V possibly damaging Het
Oc90 T C 15: 65,878,801 (GRCm38) Q365R possibly damaging Het
Olfr1012 T C 2: 85,759,893 (GRCm38) N161S possibly damaging Het
Olfr378 T C 11: 73,425,852 (GRCm38) I44V probably benign Het
Olfr48 A C 2: 89,844,343 (GRCm38) M210R possibly damaging Het
Oplah C T 15: 76,302,094 (GRCm38) D734N possibly damaging Het
Pbx1 G A 1: 168,158,793 (GRCm38) P411L possibly damaging Het
Pcdhga6 G T 18: 37,708,217 (GRCm38) R330L probably benign Het
Phox2b C A 5: 67,097,656 (GRCm38) R150L probably damaging Het
Plscr2 A G 9: 92,290,795 (GRCm38) E169G probably damaging Het
Ptprn2 A T 12: 116,888,877 (GRCm38) Q518L probably benign Het
Rbl1 A T 2: 157,195,585 (GRCm38) I214K probably benign Het
Ryr1 T A 7: 29,056,997 (GRCm38) Q3464L probably damaging Het
Ryr3 T A 2: 112,751,787 (GRCm38) I2854F probably damaging Het
Shtn1 T C 19: 58,975,038 (GRCm38) Y615C probably benign Het
Sirt5 A T 13: 43,383,167 (GRCm38) N226Y probably damaging Het
Slc30a3 G A 5: 31,095,078 (GRCm38) probably benign Het
Slc5a4b A G 10: 76,081,524 (GRCm38) V226A probably damaging Het
Slf2 C A 19: 44,934,951 (GRCm38) S68* probably null Het
Smyd5 G A 6: 85,442,211 (GRCm38) E292K probably damaging Het
Spns1 A G 7: 126,370,371 (GRCm38) V512A possibly damaging Het
Sry T A Y: 2,663,141 (GRCm38) Q173L unknown Het
Ssrp1 C A 2: 85,044,392 (GRCm38) Q519K probably benign Het
Tgfbr3 T C 5: 107,139,839 (GRCm38) E498G probably damaging Het
Tnrc6b T G 15: 80,880,247 (GRCm38) L650W probably damaging Het
Tnxb A T 17: 34,718,721 (GRCm38) E3861D probably damaging Het
Trbc1 G T 6: 41,539,645 (GRCm38) probably benign Het
Trpm7 T A 2: 126,826,710 (GRCm38) probably benign Het
Usp39 G A 6: 72,337,832 (GRCm38) T197I possibly damaging Het
Vmn1r38 T C 6: 66,776,493 (GRCm38) H213R possibly damaging Het
Washc2 A G 6: 116,220,568 (GRCm38) D168G probably damaging Het
Washc4 A G 10: 83,546,856 (GRCm38) I45V probably benign Het
Zfp352 A G 4: 90,225,102 (GRCm38) E493G probably benign Het
Zfp692 C T 11: 58,309,428 (GRCm38) T170I possibly damaging Het
Zfp735 C A 11: 73,711,241 (GRCm38) S337* probably null 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
R2354:Neo1 UTSW 9 58,985,634 (GRCm38) missense probably benign
R2365:Neo1 UTSW 9 58,956,003 (GRCm38) missense probably benign
R3156:Neo1 UTSW 9 58,888,979 (GRCm38) splice site probably null
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'- TCAGCTCCATTAGAATCTTATGGG -3'
(R):5'- CCTTGAAAAGGTTTGATGGAGC -3'

Sequencing Primer
(F):5'- GCTCCATTAGAATCTTATGGGACTTG -3'
(R):5'- CTGCTGGTCATCATTGTC -3'
Posted On 2015-02-19