Incidental Mutation 'R1378:Nell2'
ID |
162967 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nell2
|
Ensembl Gene |
ENSMUSG00000022454 |
Gene Name |
NEL-like 2 |
Synonyms |
A330108N19Rik, mel91 |
MMRRC Submission |
039442-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1378 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
95117321-95426677 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 95130402 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 657
(V657E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131665
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075275]
[ENSMUST00000166170]
[ENSMUST00000229933]
[ENSMUST00000229981]
|
AlphaFold |
Q61220 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075275
AA Change: V657E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000074751 Gene: ENSMUSG00000022454 AA Change: V657E
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: V657E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131665 Gene: ENSMUSG00000022454 AA Change: V657E
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: V657E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229981
AA Change: V657E
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
Meta Mutation Damage Score |
0.1477 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.3%
|
Validation Efficiency |
100% (57/57) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afap1 |
A |
G |
5: 36,126,030 (GRCm39) |
T342A |
probably damaging |
Het |
Alg1 |
A |
G |
16: 5,061,580 (GRCm39) |
N406D |
probably damaging |
Het |
Atp13a4 |
A |
T |
16: 29,239,246 (GRCm39) |
M825K |
probably damaging |
Het |
Birc6 |
T |
A |
17: 74,967,450 (GRCm39) |
I4117K |
probably damaging |
Het |
Brinp2 |
A |
T |
1: 158,074,624 (GRCm39) |
L499Q |
possibly damaging |
Het |
Brwd1 |
A |
T |
16: 95,842,570 (GRCm39) |
V789D |
probably benign |
Het |
Ccdc153 |
C |
G |
9: 44,154,958 (GRCm39) |
L94V |
probably null |
Het |
Ccna1 |
A |
G |
3: 54,957,150 (GRCm39) |
V237A |
probably damaging |
Het |
Cct7 |
T |
A |
6: 85,444,545 (GRCm39) |
|
probably null |
Het |
Cenpb |
C |
T |
2: 131,020,230 (GRCm39) |
|
probably benign |
Het |
Chrne |
T |
A |
11: 70,505,956 (GRCm39) |
|
probably null |
Het |
Clstn3 |
T |
A |
6: 124,415,378 (GRCm39) |
D662V |
probably damaging |
Het |
Clu |
G |
T |
14: 66,212,350 (GRCm39) |
C189F |
probably damaging |
Het |
Cstdc5 |
A |
G |
16: 36,179,929 (GRCm39) |
C63R |
probably benign |
Het |
Cul7 |
C |
T |
17: 46,973,052 (GRCm39) |
R1388C |
probably damaging |
Het |
Dgka |
T |
C |
10: 128,571,696 (GRCm39) |
|
probably null |
Het |
Dop1b |
A |
G |
16: 93,567,280 (GRCm39) |
T1236A |
probably benign |
Het |
Edn2 |
A |
G |
4: 120,019,095 (GRCm39) |
E28G |
probably benign |
Het |
Elp3 |
T |
C |
14: 65,830,380 (GRCm39) |
I24V |
probably benign |
Het |
Faap24 |
T |
C |
7: 35,092,326 (GRCm39) |
E197G |
probably benign |
Het |
Fam13a |
T |
A |
6: 58,933,736 (GRCm39) |
M285L |
probably benign |
Het |
Gm9944 |
T |
A |
4: 144,179,773 (GRCm39) |
|
probably benign |
Het |
Gsdmc3 |
T |
C |
15: 63,731,435 (GRCm39) |
|
probably benign |
Het |
Gvin3 |
T |
A |
7: 106,201,373 (GRCm39) |
I624F |
probably damaging |
Het |
Ift22 |
A |
C |
5: 136,941,757 (GRCm39) |
K133T |
probably benign |
Het |
Il23r |
T |
A |
6: 67,429,394 (GRCm39) |
K316I |
possibly damaging |
Het |
Klra17 |
T |
A |
6: 129,842,647 (GRCm39) |
E217V |
probably damaging |
Het |
Nlrp4d |
C |
A |
7: 10,098,111 (GRCm39) |
K850N |
probably benign |
Het |
Nsmce4a |
C |
T |
7: 130,139,900 (GRCm39) |
R276Q |
probably benign |
Het |
Or10d4 |
T |
C |
9: 39,580,962 (GRCm39) |
L203P |
probably damaging |
Het |
Or4p8 |
T |
A |
2: 88,727,370 (GRCm39) |
R190S |
probably benign |
Het |
Or52s1b |
T |
C |
7: 102,822,475 (GRCm39) |
D123G |
probably damaging |
Het |
Or52z14 |
A |
T |
7: 103,253,145 (GRCm39) |
R95* |
probably null |
Het |
Pclo |
T |
C |
5: 14,732,327 (GRCm39) |
S3610P |
probably benign |
Het |
Pon3 |
T |
G |
6: 5,230,813 (GRCm39) |
D238A |
probably benign |
Het |
Ppp4r4 |
T |
C |
12: 103,547,751 (GRCm39) |
|
probably benign |
Het |
Rad18 |
T |
C |
6: 112,658,297 (GRCm39) |
|
probably benign |
Het |
Ralgapa1 |
T |
C |
12: 55,723,711 (GRCm39) |
Y1652C |
probably damaging |
Het |
Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
Sel1l |
T |
C |
12: 91,799,871 (GRCm39) |
|
probably null |
Het |
Soat1 |
A |
G |
1: 156,294,352 (GRCm39) |
|
probably benign |
Het |
Tex15 |
A |
T |
8: 34,065,244 (GRCm39) |
N1558I |
probably damaging |
Het |
Tmem132d |
A |
T |
5: 128,346,011 (GRCm39) |
F170L |
probably benign |
Het |
Tro |
G |
T |
X: 149,438,567 (GRCm39) |
P30Q |
probably damaging |
Het |
Tubg2 |
G |
T |
11: 101,047,699 (GRCm39) |
E95* |
probably null |
Het |
Unc45b |
G |
A |
11: 82,827,678 (GRCm39) |
S725N |
probably benign |
Het |
Vmn2r7 |
A |
G |
3: 64,599,025 (GRCm39) |
S511P |
possibly damaging |
Het |
Vps35l |
G |
T |
7: 118,393,795 (GRCm39) |
E515* |
probably null |
Het |
Vps35l |
A |
T |
7: 118,393,796 (GRCm39) |
E515V |
probably damaging |
Het |
Zfp174 |
G |
A |
16: 3,667,353 (GRCm39) |
E181K |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGATATTTTCCACTCTTGGGTGAAGGC -3'
(R):5'- CCATAGATATTGACGAATGCGGGACTG -3'
Sequencing Primer
(F):5'- gggggaggggaaaaggg -3'
(R):5'- GGACTGGGAGGCACAGC -3'
|
Posted On |
2014-03-17 |