Incidental Mutation 'IGL02324:Nell2'
| ID |
288382 |
| 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 # |
IGL02324
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
95117321-95426677 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95126982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 798
(T798A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155436
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075275]
[ENSMUST00000166170]
[ENSMUST00000229933]
[ENSMUST00000229981]
|
| AlphaFold |
Q61220 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075275
AA Change: T798A
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000074751
Gene: ENSMUSG00000022454
AA Change: T798A
| 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: ENSMUST00000166170
AA Change: T798A
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131665
Gene: ENSMUSG00000022454
AA Change: T798A
| 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: T798A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229981
AA Change: T798A
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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
A |
3: 151,203,511 (GRCm39) |
C124S |
probably damaging |
Het |
| Aldh1a7 |
T |
C |
19: 20,704,368 (GRCm39) |
N42S |
probably damaging |
Het |
| Arhgef1 |
T |
C |
7: 24,623,240 (GRCm39) |
L667P |
probably damaging |
Het |
| C1qb |
C |
A |
4: 136,607,811 (GRCm39) |
R184L |
possibly damaging |
Het |
| Cacna1s |
A |
G |
1: 136,002,914 (GRCm39) |
|
probably benign |
Het |
| Cdk20 |
A |
G |
13: 64,585,734 (GRCm39) |
E244G |
probably benign |
Het |
| Copg2 |
C |
A |
6: 30,840,469 (GRCm39) |
|
probably null |
Het |
| Cyp2d40 |
A |
T |
15: 82,645,149 (GRCm39) |
|
probably benign |
Het |
| Cyp2j6 |
A |
G |
4: 96,414,170 (GRCm39) |
I365T |
probably damaging |
Het |
| Dhx29 |
A |
G |
13: 113,064,342 (GRCm39) |
K6E |
probably damaging |
Het |
| Dpp10 |
T |
A |
1: 123,295,531 (GRCm39) |
T539S |
probably benign |
Het |
| Ehbp1 |
A |
T |
11: 22,046,048 (GRCm39) |
I542K |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,493,593 (GRCm39) |
Y3913C |
probably damaging |
Het |
| Flt4 |
C |
T |
11: 49,536,822 (GRCm39) |
T1264I |
probably benign |
Het |
| Fmnl1 |
A |
G |
11: 103,070,364 (GRCm39) |
D51G |
probably damaging |
Het |
| Gm17093 |
A |
G |
14: 44,755,807 (GRCm39) |
T25A |
unknown |
Het |
| Gpatch2 |
A |
G |
1: 186,957,936 (GRCm39) |
E97G |
probably damaging |
Het |
| Hcn1 |
T |
C |
13: 118,039,422 (GRCm39) |
L446P |
unknown |
Het |
| Hpse2 |
A |
T |
19: 42,920,038 (GRCm39) |
L354I |
probably damaging |
Het |
| Hspa4 |
A |
G |
11: 53,190,885 (GRCm39) |
|
probably null |
Het |
| Krtap16-1 |
C |
T |
11: 99,877,129 (GRCm39) |
V92M |
probably damaging |
Het |
| Med23 |
A |
T |
10: 24,773,239 (GRCm39) |
Q281L |
probably damaging |
Het |
| Megf8 |
T |
C |
7: 25,039,873 (GRCm39) |
S963P |
probably benign |
Het |
| Mical1 |
G |
A |
10: 41,362,660 (GRCm39) |
E932K |
possibly damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,479,643 (GRCm39) |
S1217P |
probably damaging |
Het |
| Myocd |
C |
A |
11: 65,069,484 (GRCm39) |
L785F |
probably benign |
Het |
| Nfat5 |
T |
C |
8: 108,092,808 (GRCm39) |
|
probably benign |
Het |
| Olfm5 |
T |
C |
7: 103,803,302 (GRCm39) |
|
probably null |
Het |
| Or1e26 |
A |
G |
11: 73,480,081 (GRCm39) |
V161A |
probably benign |
Het |
| P2ry1 |
A |
T |
3: 60,911,199 (GRCm39) |
N113Y |
possibly damaging |
Het |
| Pan3 |
A |
G |
5: 147,466,933 (GRCm39) |
|
probably null |
Het |
| Pappa |
A |
G |
4: 65,115,045 (GRCm39) |
R714G |
probably damaging |
Het |
| Plcd1 |
A |
G |
9: 118,901,710 (GRCm39) |
F579L |
probably damaging |
Het |
| Ptprb |
T |
C |
10: 116,155,238 (GRCm39) |
V664A |
probably benign |
Het |
| Slc27a5 |
T |
A |
7: 12,731,487 (GRCm39) |
Q168L |
probably benign |
Het |
| Spag8 |
T |
C |
4: 43,651,781 (GRCm39) |
E395G |
probably damaging |
Het |
| Stfa2l1 |
T |
C |
16: 35,982,138 (GRCm39) |
Y70H |
probably damaging |
Het |
| Taf2 |
T |
C |
15: 54,891,772 (GRCm39) |
N1017S |
probably benign |
Het |
| Tnfrsf25 |
C |
A |
4: 152,203,779 (GRCm39) |
Q296K |
probably damaging |
Het |
| Trpm3 |
T |
A |
19: 22,676,143 (GRCm39) |
I103N |
probably benign |
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 |
|
IGL01124:Nell2
|
APN |
15 |
95,194,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation