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 |
58781970-58943724 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58892917 bp (GRCm39)
|
| 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 |
|---|
| Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Bpifb9b |
C |
T |
2: 154,153,662 (GRCm39) |
L243F |
probably benign |
Het |
| Cd226 |
A |
T |
18: 89,265,107 (GRCm39) |
|
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cep295 |
A |
G |
9: 15,246,080 (GRCm39) |
I792T |
possibly damaging |
Het |
| Cfap46 |
T |
C |
7: 139,240,962 (GRCm39) |
Y469C |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| D630045J12Rik |
G |
A |
6: 38,135,026 (GRCm39) |
P1385S |
possibly damaging |
Het |
| Ddb1 |
A |
T |
19: 10,584,337 (GRCm39) |
M64L |
probably benign |
Het |
| Dyrk1b |
G |
A |
7: 27,884,797 (GRCm39) |
R404Q |
possibly damaging |
Het |
| Gal3st2b |
A |
G |
1: 93,867,508 (GRCm39) |
T52A |
probably damaging |
Het |
| Galk2 |
C |
A |
2: 125,773,193 (GRCm39) |
S208R |
probably benign |
Het |
| Hap1 |
A |
T |
11: 100,245,541 (GRCm39) |
I141N |
probably damaging |
Het |
| Hif3a |
T |
C |
7: 16,775,030 (GRCm39) |
S523G |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,995,792 (GRCm39) |
V381I |
probably damaging |
Het |
| Lmbrd1 |
T |
C |
1: 24,724,622 (GRCm39) |
S69P |
probably damaging |
Het |
| Lrriq1 |
C |
T |
10: 103,025,848 (GRCm39) |
V925M |
probably damaging |
Het |
| Mmp16 |
A |
G |
4: 18,112,001 (GRCm39) |
Y459C |
probably damaging |
Het |
| Mtr |
A |
G |
13: 12,203,043 (GRCm39) |
|
probably benign |
Het |
| Nadk2 |
T |
A |
15: 9,085,862 (GRCm39) |
I167N |
probably damaging |
Het |
| Pitpnm2 |
A |
T |
5: 124,260,982 (GRCm39) |
V1010E |
probably damaging |
Het |
| Prp2rt |
G |
A |
13: 97,235,309 (GRCm39) |
T146I |
probably damaging |
Het |
| Semp2l2b |
G |
T |
10: 21,943,155 (GRCm39) |
T275K |
probably benign |
Het |
| Shox2 |
A |
G |
3: 66,888,822 (GRCm39) |
I23T |
possibly damaging |
Het |
| Slc5a12 |
T |
C |
2: 110,439,777 (GRCm39) |
V141A |
probably damaging |
Het |
| Sstr5 |
A |
G |
17: 25,710,875 (GRCm39) |
I118T |
probably benign |
Het |
| Taar4 |
A |
G |
10: 23,836,912 (GRCm39) |
N174S |
probably damaging |
Het |
| Tpcn2 |
C |
A |
7: 144,810,955 (GRCm39) |
G581W |
probably damaging |
Het |
| Umod |
C |
T |
7: 119,065,416 (GRCm39) |
V538M |
probably damaging |
Het |
| Vmn2r44 |
T |
G |
7: 8,373,639 (GRCm39) |
S517R |
probably damaging |
Het |
| Zc3h12d |
G |
T |
10: 7,743,702 (GRCm39) |
V491L |
probably benign |
Het |
| Zfp358 |
A |
T |
8: 3,545,454 (GRCm39) |
H12L |
possibly damaging |
Het |
| Zkscan7 |
A |
G |
9: 122,723,892 (GRCm39) |
D287G |
probably benign |
Het |
|
| Other mutations in Neo1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- CACTACACCTGGCTTTGAACAG -3'
(R):5'- CAGTCTATGTTGGAAACAGTGC -3'
Sequencing Primer
(F):5'- GAACAGTGAATTTTTATGGCCCCTC -3'
(R):5'- TGTTGGAAACAGTGCAATTCTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation