Incidental Mutation 'R7839:Nell2'
| ID |
606184 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nell2
|
| Ensembl Gene |
ENSMUSG00000022454 |
| Gene Name |
NEL-like 2 |
| Synonyms |
A330108N19Rik, mel91 |
| MMRRC Submission |
045893-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7839 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
95117321-95426677 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95196819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 499
(N499S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075275]
[ENSMUST00000166170]
[ENSMUST00000229933]
[ENSMUST00000229981]
|
| AlphaFold |
Q61220 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075275
AA Change: N499S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000074751
Gene: ENSMUSG00000022454
AA Change: N499S
| 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: N499S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000131665
Gene: ENSMUSG00000022454
AA Change: N499S
| 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: ENSMUST00000229933
AA Change: N499S
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229981
AA Change: N499S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Meta Mutation Damage Score |
0.1850 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (51/51) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
T |
11: 110,025,085 (GRCm39) |
M986K |
probably benign |
Het |
| Adcyap1 |
A |
G |
17: 93,511,413 (GRCm39) |
K129R |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,526,528 (GRCm39) |
D90G |
probably damaging |
Het |
| Ankrd17 |
G |
A |
5: 90,411,213 (GRCm39) |
H1361Y |
probably damaging |
Het |
| Aqp4 |
T |
A |
18: 15,532,737 (GRCm39) |
I119F |
possibly damaging |
Het |
| Bfsp1 |
T |
A |
2: 143,673,770 (GRCm39) |
I313F |
possibly damaging |
Het |
| Cxcl9 |
A |
G |
5: 92,475,869 (GRCm39) |
V5A |
probably benign |
Het |
| Cyfip1 |
G |
A |
7: 55,536,483 (GRCm39) |
V304M |
probably damaging |
Het |
| Cyp2d22 |
A |
G |
15: 82,256,772 (GRCm39) |
V334A |
probably damaging |
Het |
| Cyp2j12 |
A |
G |
4: 95,987,893 (GRCm39) |
V499A |
possibly damaging |
Het |
| Cyth3 |
A |
G |
5: 143,683,509 (GRCm39) |
E136G |
probably benign |
Het |
| Degs2 |
CTTAGTGAAT |
CT |
12: 108,658,460 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
G |
1: 53,606,334 (GRCm39) |
S1229P |
probably benign |
Het |
| Dop1a |
T |
A |
9: 86,424,818 (GRCm39) |
C2087* |
probably null |
Het |
| Dop1b |
A |
T |
16: 93,560,829 (GRCm39) |
H889L |
probably damaging |
Het |
| Elf1 |
A |
G |
14: 79,773,855 (GRCm39) |
E22G |
probably benign |
Het |
| Gbgt1 |
T |
C |
2: 28,393,182 (GRCm39) |
V90A |
probably damaging |
Het |
| Glis3 |
T |
C |
19: 28,294,773 (GRCm39) |
D675G |
possibly damaging |
Het |
| Glt8d1 |
G |
T |
14: 30,723,788 (GRCm39) |
|
probably benign |
Het |
| Gzf1 |
T |
A |
2: 148,525,815 (GRCm39) |
Y95* |
probably null |
Het |
| Insig2 |
T |
C |
1: 121,240,049 (GRCm39) |
I84V |
probably benign |
Het |
| Mapkapk2 |
A |
G |
1: 131,025,256 (GRCm39) |
S3P |
unknown |
Het |
| Nlrp9b |
G |
A |
7: 19,758,398 (GRCm39) |
R545H |
possibly damaging |
Het |
| Obox7 |
T |
A |
7: 14,399,350 (GRCm39) |
I192N |
probably benign |
Het |
| Or10ad1 |
T |
C |
15: 98,106,026 (GRCm39) |
I80V |
probably damaging |
Het |
| Or6c76b |
A |
T |
10: 129,692,899 (GRCm39) |
I171F |
possibly damaging |
Het |
| Plec |
A |
T |
15: 76,060,583 (GRCm39) |
V3118E |
probably damaging |
Het |
| Plk3 |
T |
C |
4: 116,986,527 (GRCm39) |
T571A |
probably damaging |
Het |
| Ppa2 |
T |
C |
3: 133,082,351 (GRCm39) |
|
probably null |
Het |
| Rabl6 |
A |
T |
2: 25,482,829 (GRCm39) |
H183Q |
probably damaging |
Het |
| Rad51ap2 |
T |
A |
12: 11,507,238 (GRCm39) |
S387T |
possibly damaging |
Het |
| Rbm33 |
A |
G |
5: 28,573,397 (GRCm39) |
|
probably null |
Het |
| Robo4 |
T |
C |
9: 37,322,055 (GRCm39) |
S724P |
probably damaging |
Het |
| Rtf2 |
T |
C |
2: 172,308,253 (GRCm39) |
|
probably null |
Het |
| Sft2d1rt |
T |
C |
11: 45,942,887 (GRCm39) |
T79A |
possibly damaging |
Het |
| Slc45a2 |
A |
T |
15: 11,027,835 (GRCm39) |
Q468L |
probably benign |
Het |
| Slc6a15 |
A |
G |
10: 103,240,660 (GRCm39) |
I428V |
probably benign |
Het |
| Sp140l2 |
C |
T |
1: 85,224,736 (GRCm39) |
M266I |
probably benign |
Het |
| Taar7f |
C |
A |
10: 23,925,967 (GRCm39) |
A187E |
possibly damaging |
Het |
| Tmt1a |
T |
C |
15: 100,202,957 (GRCm39) |
V77A |
possibly damaging |
Het |
| Tob1 |
T |
A |
11: 94,104,598 (GRCm39) |
Y45N |
probably damaging |
Het |
| Trappc10 |
A |
G |
10: 78,024,646 (GRCm39) |
V1161A |
possibly damaging |
Het |
| Trbv13-2 |
T |
C |
6: 41,098,521 (GRCm39) |
V32A |
probably benign |
Het |
| Trpm8 |
T |
A |
1: 88,254,176 (GRCm39) |
L133Q |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,538,512 (GRCm39) |
T34729A |
probably benign |
Het |
| Uba6 |
G |
T |
5: 86,270,271 (GRCm39) |
|
probably null |
Het |
| Unc13c |
T |
C |
9: 73,840,596 (GRCm39) |
D85G |
possibly damaging |
Het |
| Vmn1r176 |
T |
C |
7: 23,534,394 (GRCm39) |
D253G |
possibly damaging |
Het |
| Vmn2r34 |
T |
A |
7: 7,687,173 (GRCm39) |
I175F |
possibly damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,916,032 (GRCm39) |
I215N |
probably damaging |
Het |
| Vwa5a |
C |
A |
9: 38,634,799 (GRCm39) |
S202R |
probably damaging |
Het |
| Zfp383 |
G |
A |
7: 29,614,483 (GRCm39) |
C246Y |
probably damaging |
Het |
| Zfp40 |
T |
C |
17: 23,395,963 (GRCm39) |
D208G |
probably damaging |
Het |
| Zfp992 |
C |
A |
4: 146,550,875 (GRCm39) |
L199I |
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 |
|
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 |
|
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'- ACTTCCCTGTCCATGAGGTG -3'
(R):5'- GCAGGCCTTTGCTTCAATTAC -3'
Sequencing Primer
(F):5'- CTGTCCATGAGGTGCAGAG -3'
(R):5'- AGGCCTTTGCTTCAATTACTTTTGG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation