Incidental Mutation 'IGL01865:Nell2'
ID |
178455 |
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 # |
IGL01865
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
95117321-95426677 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 95282962 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 360
(V360A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155436
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075275]
[ENSMUST00000166170]
[ENSMUST00000229933]
[ENSMUST00000229981]
|
AlphaFold |
Q61220 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075275
AA Change: V360A
PolyPhen 2
Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000074751 Gene: ENSMUSG00000022454 AA Change: V360A
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 benign
Transcript: ENSMUST00000166170
AA Change: V360A
PolyPhen 2
Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000131665 Gene: ENSMUSG00000022454 AA Change: V360A
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: ENSMUST00000229933
AA Change: V360A
PolyPhen 2
Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229981
AA Change: V360A
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130023H24Rik |
T |
C |
7: 127,836,107 (GRCm39) |
H162R |
probably damaging |
Het |
Adamts10 |
T |
A |
17: 33,772,140 (GRCm39) |
M1096K |
probably damaging |
Het |
Asap3 |
G |
T |
4: 135,963,715 (GRCm39) |
C325F |
probably damaging |
Het |
Atm |
T |
C |
9: 53,372,302 (GRCm39) |
E2160G |
probably damaging |
Het |
Col4a1 |
G |
A |
8: 11,251,790 (GRCm39) |
|
probably benign |
Het |
Ctdp1 |
C |
T |
18: 80,499,199 (GRCm39) |
G248S |
probably damaging |
Het |
Dcaf5 |
A |
T |
12: 80,386,088 (GRCm39) |
D679E |
probably benign |
Het |
Efcab2 |
C |
A |
1: 178,303,253 (GRCm39) |
Y91* |
probably null |
Het |
Eif3d |
G |
T |
15: 77,851,546 (GRCm39) |
T88K |
probably benign |
Het |
Gapvd1 |
G |
A |
2: 34,585,515 (GRCm39) |
A1049V |
probably null |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm10717 |
A |
T |
9: 3,026,287 (GRCm39) |
Y195F |
probably damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm18856 |
T |
A |
13: 14,139,508 (GRCm39) |
|
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Gm9991 |
A |
G |
1: 90,606,635 (GRCm39) |
|
noncoding transcript |
Het |
Hapln1 |
T |
C |
13: 89,749,784 (GRCm39) |
Y110H |
probably damaging |
Het |
Htr1f |
A |
G |
16: 64,746,282 (GRCm39) |
Y337H |
probably damaging |
Het |
Kirrel1 |
T |
A |
3: 86,993,731 (GRCm39) |
S509C |
probably damaging |
Het |
Limch1 |
A |
T |
5: 67,131,923 (GRCm39) |
R138* |
probably null |
Het |
Lypla1 |
A |
C |
1: 4,907,259 (GRCm39) |
I108L |
probably damaging |
Het |
Mc3r |
A |
G |
2: 172,090,975 (GRCm39) |
N66D |
probably damaging |
Het |
Melk |
T |
A |
4: 44,344,988 (GRCm39) |
C373S |
probably benign |
Het |
Myocd |
C |
A |
11: 65,091,723 (GRCm39) |
S73I |
probably benign |
Het |
Npas4 |
G |
A |
19: 5,035,819 (GRCm39) |
Q782* |
probably null |
Het |
Or7a36 |
A |
T |
10: 78,820,512 (GRCm39) |
D296V |
possibly damaging |
Het |
Pdzd8 |
T |
C |
19: 59,288,077 (GRCm39) |
K1108E |
possibly damaging |
Het |
Per2 |
A |
G |
1: 91,349,239 (GRCm39) |
I1044T |
probably benign |
Het |
Pgm3 |
A |
G |
9: 86,437,371 (GRCm39) |
F501S |
possibly damaging |
Het |
Ppp1r3c |
A |
G |
19: 36,711,578 (GRCm39) |
V64A |
probably benign |
Het |
Ptpn6 |
A |
T |
6: 124,709,428 (GRCm39) |
I15N |
probably damaging |
Het |
Pxk |
T |
C |
14: 8,136,923 (GRCm38) |
V148A |
possibly damaging |
Het |
Rngtt |
T |
A |
4: 33,325,157 (GRCm39) |
|
probably benign |
Het |
Rtkn2 |
T |
G |
10: 67,871,705 (GRCm39) |
S364R |
probably benign |
Het |
Rtn1 |
A |
C |
12: 72,266,074 (GRCm39) |
L167R |
probably damaging |
Het |
Sp2 |
G |
A |
11: 96,851,868 (GRCm39) |
T352I |
probably damaging |
Het |
Tbc1d17 |
A |
G |
7: 44,492,113 (GRCm39) |
M459T |
possibly damaging |
Het |
Tbcd |
T |
A |
11: 121,481,206 (GRCm39) |
M694K |
possibly damaging |
Het |
Tln2 |
G |
A |
9: 67,157,896 (GRCm39) |
R1148* |
probably null |
Het |
Trim27 |
T |
C |
13: 21,376,662 (GRCm39) |
V294A |
probably damaging |
Het |
Tspyl5 |
G |
T |
15: 33,687,858 (GRCm39) |
A29E |
unknown |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vrk2 |
C |
T |
11: 26,485,560 (GRCm39) |
V143I |
possibly damaging |
Het |
Zfp952 |
G |
A |
17: 33,221,791 (GRCm39) |
R52Q |
probably benign |
Het |
Zfp979 |
A |
T |
4: 147,699,774 (GRCm39) |
D55E |
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 |
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 |
2014-05-07 |