Incidental Mutation 'IGL01124:Nell2'
| ID |
52831 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nell2
|
| Ensembl Gene |
ENSMUSG00000022454 |
| Gene Name |
NEL-like 2 |
| Synonyms |
A330108N19Rik, mel91 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01124
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
95117321-95426677 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 95194060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 551
(T551M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155436
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075275]
[ENSMUST00000166170]
[ENSMUST00000229933]
[ENSMUST00000229981]
|
| AlphaFold |
Q61220 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075275
AA Change: T551M
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000074751
Gene: ENSMUSG00000022454
AA Change: T551M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
TSPN
|
32 |
217 |
9.94e-64 |
SMART |
|
LamG
|
86 |
216 |
3.97e-8 |
SMART |
|
coiled coil region
|
242 |
271 |
N/A |
INTRINSIC |
|
VWC
|
277 |
333 |
6.18e-10 |
SMART |
|
VWC
|
337 |
398 |
3.57e0 |
SMART |
|
EGF
|
403 |
442 |
2.02e-1 |
SMART |
|
EGF_CA
|
443 |
484 |
2.8e-9 |
SMART |
|
EGF_CA
|
485 |
525 |
9.47e-7 |
SMART |
|
EGF
|
527 |
556 |
1.28e-3 |
SMART |
|
EGF_CA
|
558 |
604 |
2.13e-9 |
SMART |
|
EGF_like
|
605 |
644 |
9.39e-4 |
SMART |
|
VWC
|
643 |
695 |
8.88e-1 |
SMART |
|
VWC
|
703 |
758 |
1.13e-17 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166170
AA Change: T551M
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131665
Gene: ENSMUSG00000022454
AA Change: T551M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
TSPN
|
32 |
217 |
9.94e-64 |
SMART |
|
LamG
|
86 |
216 |
3.97e-8 |
SMART |
|
coiled coil region
|
242 |
271 |
N/A |
INTRINSIC |
|
VWC
|
277 |
333 |
6.18e-10 |
SMART |
|
VWC
|
337 |
398 |
3.57e0 |
SMART |
|
EGF
|
403 |
442 |
2.02e-1 |
SMART |
|
EGF_CA
|
443 |
484 |
2.8e-9 |
SMART |
|
EGF_CA
|
485 |
525 |
9.47e-7 |
SMART |
|
EGF
|
527 |
556 |
1.28e-3 |
SMART |
|
EGF_CA
|
558 |
604 |
2.13e-9 |
SMART |
|
EGF_like
|
605 |
644 |
9.39e-4 |
SMART |
|
VWC
|
643 |
695 |
8.88e-1 |
SMART |
|
VWC
|
703 |
758 |
1.13e-17 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229933
AA Change: T551M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229981
AA Change: T551M
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a glycoprotein containing several von Willebrand factor C domains and epidermal growth factor (EGF)-like domains. The encoded protein acts as a homotrimer and is found in the cytoplasm. Several variants encoding a few different isoforms exist, and at least one isoform appears to be a secreted protein. Studies in mouse suggest that this protein plays a role in neural cell growth and differentiation as well as in oncogenesis. [provided by RefSeq, Feb 2009]
PHENOTYPE: Homozygous null mice display enhanced long term potentiation in the dentate gyrus of the hippocampus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ascc3 |
T |
C |
10: 50,608,569 (GRCm39) |
I1477T |
probably damaging |
Het |
| Baat |
A |
G |
4: 49,490,391 (GRCm39) |
I231T |
possibly damaging |
Het |
| Cactin |
T |
C |
10: 81,160,184 (GRCm39) |
S426P |
possibly damaging |
Het |
| Cfh |
A |
T |
1: 140,110,999 (GRCm39) |
F6I |
probably benign |
Het |
| Clec4a2 |
C |
T |
6: 123,116,037 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,611,129 (GRCm39) |
S148P |
probably damaging |
Het |
| Cubn |
G |
T |
2: 13,482,904 (GRCm39) |
Q281K |
possibly damaging |
Het |
| Cyp2c65 |
T |
A |
19: 39,081,954 (GRCm39) |
|
probably benign |
Het |
| Dennd4b |
A |
T |
3: 90,176,381 (GRCm39) |
T243S |
possibly damaging |
Het |
| Epha8 |
C |
T |
4: 136,663,394 (GRCm39) |
G518D |
probably damaging |
Het |
| Fmo3 |
G |
A |
1: 162,785,830 (GRCm39) |
R387C |
probably damaging |
Het |
| Foxo6 |
T |
C |
4: 120,126,349 (GRCm39) |
T149A |
probably benign |
Het |
| Fthl17d |
T |
C |
X: 8,852,827 (GRCm39) |
E3G |
probably benign |
Het |
| Gm10521 |
A |
G |
1: 171,724,010 (GRCm39) |
Y107C |
unknown |
Het |
| Ipo8 |
T |
A |
6: 148,678,874 (GRCm39) |
E908V |
probably benign |
Het |
| Kcnd2 |
T |
C |
6: 21,217,216 (GRCm39) |
S307P |
probably damaging |
Het |
| Klf3 |
A |
G |
5: 64,974,123 (GRCm39) |
M3V |
possibly damaging |
Het |
| Ldb3 |
T |
A |
14: 34,266,157 (GRCm39) |
E417D |
probably damaging |
Het |
| Lrch1 |
A |
T |
14: 74,994,503 (GRCm39) |
D673E |
probably benign |
Het |
| Map3k4 |
T |
C |
17: 12,474,087 (GRCm39) |
K865E |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,589,104 (GRCm39) |
V754I |
possibly damaging |
Het |
| Nek4 |
A |
G |
14: 30,692,219 (GRCm39) |
N223D |
probably benign |
Het |
| Nup155 |
T |
A |
15: 8,183,163 (GRCm39) |
M1241K |
probably damaging |
Het |
| Or2t49 |
A |
T |
11: 58,393,020 (GRCm39) |
S121T |
possibly damaging |
Het |
| Or5i1 |
T |
C |
2: 87,613,720 (GRCm39) |
F279L |
probably benign |
Het |
| Orc1 |
T |
C |
4: 108,445,984 (GRCm39) |
|
probably benign |
Het |
| Pclo |
T |
C |
5: 14,764,343 (GRCm39) |
I4272T |
unknown |
Het |
| Ppp1r12c |
A |
G |
7: 4,500,344 (GRCm39) |
|
probably benign |
Het |
| Prcp |
A |
G |
7: 92,559,416 (GRCm39) |
E160G |
probably benign |
Het |
| Prl3d3 |
G |
A |
13: 27,343,090 (GRCm39) |
R92Q |
possibly damaging |
Het |
| Prl6a1 |
T |
A |
13: 27,500,347 (GRCm39) |
M106K |
possibly damaging |
Het |
| Slc22a1 |
T |
A |
17: 12,869,749 (GRCm39) |
|
probably benign |
Het |
| Slco3a1 |
A |
G |
7: 73,934,295 (GRCm39) |
Y626H |
probably damaging |
Het |
| Smtn |
A |
G |
11: 3,476,326 (GRCm39) |
|
probably null |
Het |
| Snx30 |
T |
C |
4: 59,886,404 (GRCm39) |
|
probably benign |
Het |
| Spock2 |
A |
G |
10: 59,967,209 (GRCm39) |
D393G |
unknown |
Het |
| Trem3 |
T |
G |
17: 48,556,829 (GRCm39) |
L100R |
probably damaging |
Het |
| Trpm2 |
A |
T |
10: 77,781,659 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,745,386 (GRCm39) |
M901V |
probably benign |
Het |
| Usp28 |
T |
A |
9: 48,948,513 (GRCm39) |
S873T |
probably damaging |
Het |
| Vmn1r86 |
T |
C |
7: 12,836,856 (GRCm39) |
I7V |
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,338,959 (GRCm39) |
L400P |
probably damaging |
Het |
|
| Other mutations in Nell2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00559:Nell2
|
APN |
15 |
95,425,166 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00919:Nell2
|
APN |
15 |
95,281,608 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01356:Nell2
|
APN |
15 |
95,127,064 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01865:Nell2
|
APN |
15 |
95,282,962 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02324:Nell2
|
APN |
15 |
95,126,982 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02505:Nell2
|
APN |
15 |
95,194,144 (GRCm39) |
splice site |
probably benign |
|
|
PIT4495001:Nell2
|
UTSW |
15 |
95,281,608 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0112:Nell2
|
UTSW |
15 |
95,329,562 (GRCm39) |
splice site |
probably benign |
|
|
R0139:Nell2
|
UTSW |
15 |
95,330,782 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0355:Nell2
|
UTSW |
15 |
95,330,782 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0481:Nell2
|
UTSW |
15 |
95,330,563 (GRCm39) |
splice site |
probably null |
|
|
R0535:Nell2
|
UTSW |
15 |
95,329,488 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0607:Nell2
|
UTSW |
15 |
95,127,095 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1378:Nell2
|
UTSW |
15 |
95,130,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1688:Nell2
|
UTSW |
15 |
95,329,494 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2054:Nell2
|
UTSW |
15 |
95,332,990 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2163:Nell2
|
UTSW |
15 |
95,327,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2176:Nell2
|
UTSW |
15 |
95,333,038 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3745:Nell2
|
UTSW |
15 |
95,330,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5055:Nell2
|
UTSW |
15 |
95,371,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5184:Nell2
|
UTSW |
15 |
95,425,690 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5382:Nell2
|
UTSW |
15 |
95,127,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6145:Nell2
|
UTSW |
15 |
95,371,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6264:Nell2
|
UTSW |
15 |
95,244,706 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6337:Nell2
|
UTSW |
15 |
95,283,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6423:Nell2
|
UTSW |
15 |
95,425,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6438:Nell2
|
UTSW |
15 |
95,130,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6579:Nell2
|
UTSW |
15 |
95,282,957 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6810:Nell2
|
UTSW |
15 |
95,139,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6894:Nell2
|
UTSW |
15 |
95,244,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7016:Nell2
|
UTSW |
15 |
95,127,032 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7266:Nell2
|
UTSW |
15 |
95,333,274 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7761:Nell2
|
UTSW |
15 |
95,330,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7839:Nell2
|
UTSW |
15 |
95,196,819 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7965:Nell2
|
UTSW |
15 |
95,129,216 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8000:Nell2
|
UTSW |
15 |
95,333,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8856:Nell2
|
UTSW |
15 |
95,281,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8880:Nell2
|
UTSW |
15 |
95,129,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8951:Nell2
|
UTSW |
15 |
95,139,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9036:Nell2
|
UTSW |
15 |
95,194,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9071:Nell2
|
UTSW |
15 |
95,244,682 (GRCm39) |
nonsense |
probably null |
|
|
R9383:Nell2
|
UTSW |
15 |
95,282,957 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9496:Nell2
|
UTSW |
15 |
95,194,097 (GRCm39) |
missense |
probably benign |
0.10 |
|
X0038:Nell2
|
UTSW |
15 |
95,425,693 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Nell2
|
UTSW |
15 |
95,332,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation