Incidental Mutation 'R8798:Neo1'
ID 671386
Institutional Source Beutler Lab
Gene Symbol Neo1
Ensembl Gene ENSMUSG00000032340
Gene Name neogenin
Synonyms 2610028H22Rik, D930014N22Rik, Igdcc2
MMRRC Submission 068724-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8798 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 58781970-58943724 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58820449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 825 (Y825H)
Ref Sequence ENSEMBL: ENSMUSP00000063656 (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: Y825H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000063656
Gene: ENSMUSG00000032340
AA Change: Y825H

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: Y825H

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (74/74)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik G A 8: 79,937,380 (GRCm39) R176* probably null Het
4921539E11Rik A C 4: 103,123,574 (GRCm39) probably benign Het
Abcc2 A G 19: 43,797,105 (GRCm39) N492S probably benign Het
Acox1 T C 11: 116,065,183 (GRCm39) Y624C probably damaging Het
Aff4 T C 11: 53,291,335 (GRCm39) probably benign Het
Ak9 T A 10: 41,258,847 (GRCm39) D781E Het
Arfgef3 T C 10: 18,522,799 (GRCm39) D409G probably damaging Het
Arhgef18 T A 8: 3,414,645 (GRCm39) Y8N probably benign Het
Blnk A G 19: 40,950,795 (GRCm39) Y119H probably damaging Het
Brsk2 T C 7: 141,541,601 (GRCm39) L310P probably damaging Het
Cgas G A 9: 78,350,348 (GRCm39) R5C probably benign Het
Cit T A 5: 116,107,102 (GRCm39) L1078Q probably damaging Het
Cpn1 A T 19: 43,974,675 (GRCm39) V18D possibly damaging Het
Csmd3 A T 15: 47,595,382 (GRCm39) Y1115N Het
Dnah9 A C 11: 65,796,057 (GRCm39) V3589G probably damaging Het
Dpp9 T C 17: 56,506,037 (GRCm39) Y454C probably damaging Het
Eif3i A G 4: 129,490,717 (GRCm39) V67A probably benign Het
Eif6 T C 2: 155,664,886 (GRCm39) N200S probably damaging Het
Fbxo10 T C 4: 45,051,605 (GRCm39) H502R possibly damaging Het
Fcer1a A G 1: 173,053,047 (GRCm39) Y50H probably benign Het
Filip1 G A 9: 79,727,372 (GRCm39) H416Y possibly damaging Het
Frmpd1 A T 4: 45,285,424 (GRCm39) N1415I possibly damaging Het
Gdpgp1 C T 7: 79,888,725 (GRCm39) P252L probably damaging Het
Gsap T C 5: 21,476,248 (GRCm39) probably null Het
Hgs T C 11: 120,370,938 (GRCm39) V598A probably benign Het
Irf2 G T 8: 47,260,349 (GRCm39) V94L probably benign Het
Kalrn G T 16: 33,803,225 (GRCm39) H2675Q possibly damaging Het
Klhl33 C A 14: 51,130,565 (GRCm39) A50S possibly damaging Het
Klk1b11 T C 7: 43,645,372 (GRCm39) I15T probably benign Het
Lcor C T 19: 41,573,698 (GRCm39) R818W probably damaging Het
Lrrn3 A G 12: 41,503,174 (GRCm39) M381T possibly damaging Het
Ltbr A G 6: 125,284,258 (GRCm39) Y395H probably benign Het
Ltf A G 9: 110,852,828 (GRCm39) probably benign Het
Ly75 A G 2: 60,154,270 (GRCm39) F1059S probably benign Het
Lypd6 T A 2: 50,078,774 (GRCm39) I90N possibly damaging Het
Map1a G A 2: 121,132,768 (GRCm39) V1195M probably benign Het
Mroh2b A T 15: 4,978,191 (GRCm39) I1320F probably damaging Het
Mug2 A G 6: 122,058,569 (GRCm39) T1324A probably damaging Het
Mylk G A 16: 34,719,772 (GRCm39) V562M possibly damaging Het
Myo15b G A 11: 115,754,232 (GRCm39) G911R Het
Nfat5 T G 8: 108,074,321 (GRCm39) V343G probably damaging Het
Nlrp2 A T 7: 5,330,887 (GRCm39) I503K possibly damaging Het
Or10d5 G A 9: 39,862,013 (GRCm39) T18I probably benign Het
Or13d1 C A 4: 52,970,790 (GRCm39) H56Q possibly damaging Het
Or5k16 A T 16: 58,736,307 (GRCm39) D232E probably benign Het
Or8d2 G A 9: 38,760,213 (GRCm39) E268K probably benign Het
Pdcl2 T C 5: 76,472,947 (GRCm39) D7G probably damaging Het
Phyh C T 2: 4,923,893 (GRCm39) R5C probably damaging Het
Prr11 A C 11: 86,996,881 (GRCm39) S28A unknown Het
Psmd13 T A 7: 140,477,663 (GRCm39) L190* probably null Het
Ptx4 A G 17: 25,343,716 (GRCm39) D322G probably damaging Het
Rnf40 T C 7: 127,188,954 (GRCm39) L109P probably damaging Het
Rrp1 T C 10: 78,245,024 (GRCm39) T102A probably damaging Het
Sema4a T G 3: 88,344,004 (GRCm39) D749A possibly damaging Het
Serpina3f A T 12: 104,183,702 (GRCm39) D188V probably benign Het
Smarca5 C A 8: 81,443,137 (GRCm39) A570S probably damaging Het
Spocd1 G C 4: 129,823,997 (GRCm39) probably null Het
Stard9 G A 2: 120,535,212 (GRCm39) G3823D probably benign Het
Suco A G 1: 161,648,004 (GRCm39) L1094S probably damaging Het
Tcf7 T C 11: 52,151,421 (GRCm39) D79G probably damaging Het
Tdrd12 A G 7: 35,228,605 (GRCm39) M39T probably damaging Het
Thnsl1 A G 2: 21,217,209 (GRCm39) N321S probably benign Het
Tmem132c T A 5: 127,437,217 (GRCm39) Y235* probably null Het
Tnfaip6 T C 2: 51,933,824 (GRCm39) F60L probably benign Het
Tnpo3 T C 6: 29,572,620 (GRCm39) I411V probably benign Het
Trio A C 15: 27,851,923 (GRCm39) V856G possibly damaging Het
Trpc2 C G 7: 101,733,767 (GRCm39) R239G probably benign Het
Ttn C T 2: 76,656,476 (GRCm39) V12502I unknown Het
Usf3 A G 16: 44,040,536 (GRCm39) D1672G probably damaging Het
Usp24 A G 4: 106,236,436 (GRCm39) N1011S probably benign Het
Vac14 A G 8: 111,446,519 (GRCm39) E756G probably benign Het
Vmn2r41 A G 7: 8,164,522 (GRCm39) L10P probably damaging Het
Xrcc5 T C 1: 72,353,337 (GRCm39) M115T probably damaging Het
Zfp1006 G A 8: 129,945,779 (GRCm39) H349Y probably damaging Het
Zfp827 G A 8: 79,916,463 (GRCm39) probably benign Het
Zmym1 A T 4: 126,943,664 (GRCm39) N241K possibly 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
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
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'- GCACTGGATATCGTTCTGTGTG -3'
(R):5'- TTCCTGAAGTGCCCAGCT -3'

Sequencing Primer
(F):5'- GAGAGTTACCATGTCTGCAACTGAC -3'
(R):5'- GAAGTGCCCAGCTCTCTTCATG -3'
Posted On 2021-04-30