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)
|
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 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 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
Incidental Mutation