Incidental Mutation 'R8700:Neo1'
| ID |
669004 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Neo1
|
| Ensembl Gene |
ENSMUSG00000032340 |
| Gene Name |
neogenin |
| Synonyms |
2610028H22Rik, D930014N22Rik, Igdcc2 |
| MMRRC Submission |
068554-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8700 (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 58825913 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 672
(S672P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063656
(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: S672P
PolyPhen 2
Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000063656
Gene: ENSMUSG00000032340
AA Change: S672P
| 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: S672P
PolyPhen 2
Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
|
| Predicted Effect |
|
| Meta Mutation Damage Score |
0.1354 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
98% (59/60) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933414I15Rik |
T |
A |
11: 50,833,344 (GRCm39) |
D86V |
unknown |
Het |
| Abtb2 |
C |
A |
2: 103,397,289 (GRCm39) |
T73K |
probably damaging |
Het |
| Akr1c14 |
T |
C |
13: 4,131,157 (GRCm39) |
|
probably benign |
Het |
| Anapc7 |
T |
A |
5: 122,560,669 (GRCm39) |
M10K |
probably damaging |
Het |
| Ano7 |
T |
G |
1: 93,316,329 (GRCm39) |
I204S |
probably damaging |
Het |
| Arhgef39 |
T |
A |
4: 43,496,715 (GRCm39) |
Q333L |
probably benign |
Het |
| Art5 |
T |
C |
7: 101,748,862 (GRCm39) |
|
probably benign |
Het |
| Asah1 |
T |
C |
8: 41,813,312 (GRCm39) |
T34A |
probably benign |
Het |
| Atp9b |
T |
C |
18: 80,796,361 (GRCm39) |
E894G |
|
Het |
| Atxn7l3 |
A |
T |
11: 102,184,747 (GRCm39) |
M126K |
possibly damaging |
Het |
| Cacna2d4 |
A |
G |
6: 119,258,654 (GRCm39) |
D580G |
probably damaging |
Het |
| Calcoco2 |
T |
A |
11: 95,994,330 (GRCm39) |
K74N |
probably benign |
Het |
| Ccdc163 |
T |
C |
4: 116,571,348 (GRCm39) |
|
probably null |
Het |
| Cep164 |
T |
C |
9: 45,686,667 (GRCm39) |
|
probably null |
Het |
| Chd7 |
T |
A |
4: 8,833,892 (GRCm39) |
N1215K |
probably damaging |
Het |
| Chsy3 |
T |
C |
18: 59,309,487 (GRCm39) |
Y247H |
probably damaging |
Het |
| Clec16a |
A |
G |
16: 10,506,422 (GRCm39) |
Y714C |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,527,371 (GRCm39) |
V2653A |
probably benign |
Het |
| Daam2 |
T |
A |
17: 49,803,180 (GRCm39) |
K77N |
probably damaging |
Het |
| Dhx35 |
T |
A |
2: 158,682,552 (GRCm39) |
M495K |
possibly damaging |
Het |
| Disp2 |
T |
A |
2: 118,620,340 (GRCm39) |
C357* |
probably null |
Het |
| Dnah6 |
T |
A |
6: 73,052,873 (GRCm39) |
|
probably benign |
Het |
| Dnah7a |
T |
G |
1: 53,535,088 (GRCm39) |
D2724A |
possibly damaging |
Het |
| Entpd5 |
A |
T |
12: 84,443,508 (GRCm39) |
D53E |
probably damaging |
Het |
| Fto |
T |
A |
8: 92,249,461 (GRCm39) |
I431N |
probably damaging |
Het |
| Gabrr2 |
T |
C |
4: 33,095,488 (GRCm39) |
I459T |
probably damaging |
Het |
| Gm5565 |
T |
A |
5: 146,097,236 (GRCm39) |
I29F |
probably damaging |
Het |
| Gm9195 |
C |
T |
14: 72,720,171 (GRCm39) |
G87R |
probably damaging |
Het |
| Grin2a |
T |
C |
16: 9,397,412 (GRCm39) |
S892G |
probably benign |
Het |
| Katnip |
A |
G |
7: 125,429,042 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,307,436 (GRCm39) |
N106S |
|
Het |
| Myo16 |
T |
C |
8: 10,463,172 (GRCm39) |
S580P |
unknown |
Het |
| Nxph3 |
A |
T |
11: 95,401,706 (GRCm39) |
V236E |
probably damaging |
Het |
| Or10j7 |
G |
T |
1: 173,011,429 (GRCm39) |
P191T |
probably benign |
Het |
| Or7e171-ps1 |
A |
C |
9: 19,852,996 (GRCm39) |
L247V |
unknown |
Het |
| Pcdhb14 |
T |
C |
18: 37,582,652 (GRCm39) |
V586A |
probably damaging |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pja2 |
C |
T |
17: 64,599,949 (GRCm39) |
D512N |
probably damaging |
Het |
| Ppfibp2 |
A |
G |
7: 107,345,602 (GRCm39) |
T875A |
possibly damaging |
Het |
| Ppp3cc |
C |
A |
14: 70,474,001 (GRCm39) |
C332F |
probably damaging |
Het |
| Pramel16 |
T |
A |
4: 143,675,701 (GRCm39) |
H375L |
possibly damaging |
Het |
| Psg18 |
A |
T |
7: 18,087,550 (GRCm39) |
V36D |
probably damaging |
Het |
| Ptprh |
A |
G |
7: 4,567,190 (GRCm39) |
S561P |
probably damaging |
Het |
| Rhbdf2 |
G |
A |
11: 116,498,230 (GRCm39) |
|
probably benign |
Het |
| Ripk2 |
T |
A |
4: 16,158,422 (GRCm39) |
N61I |
possibly damaging |
Het |
| Setdb2 |
T |
C |
14: 59,654,888 (GRCm39) |
Y318C |
probably damaging |
Het |
| Shc1 |
A |
G |
3: 89,334,740 (GRCm39) |
D533G |
possibly damaging |
Het |
| Sirpb1a |
T |
C |
3: 15,476,419 (GRCm39) |
E193G |
probably damaging |
Het |
| Slc41a2 |
T |
C |
10: 83,152,097 (GRCm39) |
E126G |
probably damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,127,859 (GRCm39) |
I1717N |
possibly damaging |
Het |
| Srms |
C |
A |
2: 180,848,521 (GRCm39) |
A413S |
probably damaging |
Het |
| Tob2 |
G |
T |
15: 81,735,802 (GRCm39) |
R56S |
probably damaging |
Het |
| Unc119 |
T |
C |
11: 78,238,137 (GRCm39) |
I105T |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,479,679 (GRCm39) |
I1742V |
probably benign |
Het |
| Vmn1r46 |
C |
T |
6: 89,953,325 (GRCm39) |
T58I |
probably benign |
Het |
| Vmn2r81 |
G |
T |
10: 79,129,517 (GRCm39) |
V803F |
probably damaging |
Het |
| Zfp365 |
T |
C |
10: 67,745,535 (GRCm39) |
K81R |
possibly damaging |
Het |
| Zfp974 |
G |
T |
7: 27,609,472 (GRCm39) |
T751K |
possibly damaging |
Het |
| Zfpl1 |
T |
C |
19: 6,132,464 (GRCm39) |
N149S |
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 |
|
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 |
|
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'- AAGTGAGTTCTTAGCCCAGC -3'
(R):5'- GGATGCTCATATGAACGAAGC -3'
Sequencing Primer
(F):5'- GTTTTCAGTTACATCCTAATTTCACG -3'
(R):5'- TGCTCATATGAACGAAGCATGGC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation