Incidental Mutation 'R6264:Nell2'
| ID |
506910 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R6264 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
95117321-95426677 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 95244706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 464
(P464S)
|
| 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: P464S
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000074751
Gene: ENSMUSG00000022454
AA Change: P464S
| 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: P464S
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131665
Gene: ENSMUSG00000022454
AA Change: P464S
| 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: P464S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229981
AA Change: P464S
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,264,824 (GRCm39) |
Y175H |
probably damaging |
Het |
| Agtpbp1 |
A |
T |
13: 59,598,114 (GRCm39) |
V1165D |
possibly damaging |
Het |
| Ahsg |
A |
G |
16: 22,717,611 (GRCm39) |
D224G |
probably benign |
Het |
| Akap11 |
T |
C |
14: 78,749,861 (GRCm39) |
D842G |
possibly damaging |
Het |
| Anln |
T |
C |
9: 22,245,413 (GRCm39) |
N186D |
possibly damaging |
Het |
| Aqr |
A |
G |
2: 113,940,445 (GRCm39) |
Y1234H |
probably damaging |
Het |
| Ccdc162 |
A |
G |
10: 41,570,464 (GRCm39) |
F7S |
probably benign |
Het |
| Cltc |
T |
C |
11: 86,596,084 (GRCm39) |
Y1222C |
probably damaging |
Het |
| Coro2a |
C |
T |
4: 46,562,912 (GRCm39) |
V81I |
probably damaging |
Het |
| Cpa5 |
T |
C |
6: 30,613,984 (GRCm39) |
V42A |
probably damaging |
Het |
| D2hgdh |
A |
G |
1: 93,754,177 (GRCm39) |
Y50C |
probably damaging |
Het |
| Ddx6 |
A |
G |
9: 44,540,049 (GRCm39) |
N326D |
probably damaging |
Het |
| Dedd2 |
A |
G |
7: 24,903,215 (GRCm39) |
L248P |
possibly damaging |
Het |
| Frem3 |
T |
A |
8: 81,341,832 (GRCm39) |
I1375N |
probably damaging |
Het |
| Gm12185 |
T |
C |
11: 48,807,002 (GRCm39) |
N63S |
probably benign |
Het |
| H2-Aa |
A |
G |
17: 34,502,172 (GRCm39) |
S250P |
probably damaging |
Het |
| Hbs1l |
T |
C |
10: 21,243,656 (GRCm39) |
S667P |
possibly damaging |
Het |
| Hc |
T |
A |
2: 34,896,285 (GRCm39) |
|
probably null |
Het |
| Hoxd4 |
A |
T |
2: 74,557,729 (GRCm39) |
Y36F |
possibly damaging |
Het |
| Ifi207 |
A |
G |
1: 173,555,111 (GRCm39) |
V864A |
probably damaging |
Het |
| Igsf10 |
T |
A |
3: 59,235,928 (GRCm39) |
T1418S |
possibly damaging |
Het |
| Klhl41 |
T |
C |
2: 69,510,176 (GRCm39) |
|
probably null |
Het |
| Lman2l |
T |
C |
1: 36,477,850 (GRCm39) |
N162S |
probably damaging |
Het |
| Lrr1 |
T |
G |
12: 69,215,655 (GRCm39) |
V9G |
probably damaging |
Het |
| Marchf5 |
T |
C |
19: 37,198,140 (GRCm39) |
I127T |
probably damaging |
Het |
| Med12l |
T |
C |
3: 59,163,423 (GRCm39) |
L1350P |
probably damaging |
Het |
| Mmp25 |
G |
A |
17: 23,849,768 (GRCm39) |
A541V |
possibly damaging |
Het |
| Myh10 |
T |
A |
11: 68,636,241 (GRCm39) |
I210N |
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,182,836 (GRCm39) |
N825S |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,524,694 (GRCm39) |
T2312A |
probably damaging |
Het |
| Ndrg4 |
G |
T |
8: 96,436,396 (GRCm39) |
R208L |
probably damaging |
Het |
| Nrxn3 |
T |
A |
12: 90,299,011 (GRCm39) |
Y374N |
probably damaging |
Het |
| Oprd1 |
A |
C |
4: 131,841,365 (GRCm39) |
C198G |
possibly damaging |
Het |
| Pik3ca |
T |
C |
3: 32,494,863 (GRCm39) |
|
probably null |
Het |
| Plin4 |
T |
G |
17: 56,411,787 (GRCm39) |
D748A |
possibly damaging |
Het |
| Pramel23 |
T |
G |
4: 143,425,722 (GRCm39) |
T74P |
possibly damaging |
Het |
| Prkg2 |
T |
G |
5: 99,082,223 (GRCm39) |
K52Q |
probably benign |
Het |
| Ptprk |
A |
T |
10: 28,442,669 (GRCm39) |
E890D |
probably damaging |
Het |
| Rab27b |
T |
C |
18: 70,122,659 (GRCm39) |
D100G |
probably damaging |
Het |
| Ranbp6 |
T |
C |
19: 29,790,026 (GRCm39) |
T109A |
probably benign |
Het |
| Rarb |
T |
A |
14: 16,818,819 (GRCm38) |
M17L |
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,167,293 (GRCm39) |
H260R |
probably damaging |
Het |
| Rec8 |
T |
A |
14: 55,856,636 (GRCm39) |
D109E |
probably damaging |
Het |
| Scd4 |
C |
A |
19: 44,327,398 (GRCm39) |
S158* |
probably null |
Het |
| Scn7a |
T |
A |
2: 66,505,870 (GRCm39) |
E1673V |
possibly damaging |
Het |
| Sit1 |
A |
T |
4: 43,482,651 (GRCm39) |
D169E |
possibly damaging |
Het |
| Slc16a14 |
G |
T |
1: 84,885,130 (GRCm39) |
Q470K |
probably benign |
Het |
| Slc43a2 |
T |
A |
11: 75,457,900 (GRCm39) |
C392S |
possibly damaging |
Het |
| Smg1 |
A |
G |
7: 117,765,310 (GRCm39) |
|
probably benign |
Het |
| Sstr2 |
A |
T |
11: 113,515,932 (GRCm39) |
I284F |
probably damaging |
Het |
| Tep1 |
C |
T |
14: 51,082,970 (GRCm39) |
V1013M |
probably damaging |
Het |
| Tmem120b |
T |
G |
5: 123,253,763 (GRCm39) |
L232R |
probably damaging |
Het |
| Tmem9b |
C |
A |
7: 109,344,612 (GRCm39) |
V75F |
probably damaging |
Het |
| Trappc3 |
A |
G |
4: 126,167,731 (GRCm39) |
S97G |
probably damaging |
Het |
| Ube3c |
T |
C |
5: 29,795,829 (GRCm39) |
F73L |
probably damaging |
Het |
| Vmn1r127 |
C |
A |
7: 21,052,930 (GRCm39) |
C286F |
probably benign |
Het |
| Vmn1r44 |
T |
C |
6: 89,870,652 (GRCm39) |
S133P |
probably benign |
Het |
| Vps8 |
C |
T |
16: 21,378,099 (GRCm39) |
Q635* |
probably null |
Het |
| Vwa8 |
A |
G |
14: 79,324,252 (GRCm39) |
E1185G |
possibly damaging |
Het |
| Zfp354c |
G |
A |
11: 50,706,274 (GRCm39) |
T267I |
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 |
|
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'- AGCAGGTTCACAATCAAATGC -3'
(R):5'- CTGTCTTGTGAACATCAAACACTC -3'
Sequencing Primer
(F):5'- GGTTCACAATCAAATGCTAGAACAAG -3'
(R):5'- ACATCAAACACTCTTATTAAAGGGG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation