Incidental Mutation 'R6337:Nell2'
| ID |
513777 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nell2
|
| Ensembl Gene |
ENSMUSG00000022454 |
| Gene Name |
NEL-like 2 |
| Synonyms |
A330108N19Rik, mel91 |
| MMRRC Submission |
044491-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6337 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
95117321-95426677 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95283025 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 339
(F339S)
|
| 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: F339S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000074751
Gene: ENSMUSG00000022454
AA Change: F339S
| 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: F339S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000131665
Gene: ENSMUSG00000022454
AA Change: F339S
| 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: F339S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229981
AA Change: F339S
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
98% (61/62) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
T |
G |
3: 89,969,040 (GRCm39) |
V221G |
probably benign |
Het |
| Abca12 |
G |
A |
1: 71,334,172 (GRCm39) |
A1110V |
probably damaging |
Het |
| Acsl6 |
C |
A |
11: 54,231,368 (GRCm39) |
P462T |
probably damaging |
Het |
| Acsm5 |
G |
A |
7: 119,133,458 (GRCm39) |
A208T |
probably benign |
Het |
| Adcyap1 |
T |
A |
17: 93,509,709 (GRCm39) |
Y53* |
probably null |
Het |
| Adgrg7 |
T |
A |
16: 56,572,788 (GRCm39) |
I343F |
probably damaging |
Het |
| Agl |
T |
A |
3: 116,580,426 (GRCm39) |
K376M |
possibly damaging |
Het |
| Akna |
A |
G |
4: 63,292,240 (GRCm39) |
Y1142H |
probably benign |
Het |
| Anks1b |
A |
T |
10: 90,757,158 (GRCm39) |
T182S |
probably benign |
Het |
| Apol7e |
T |
A |
15: 77,598,582 (GRCm39) |
Y16N |
possibly damaging |
Het |
| Bptf |
G |
T |
11: 106,949,605 (GRCm39) |
T2238K |
possibly damaging |
Het |
| Ccdc87 |
A |
G |
19: 4,889,829 (GRCm39) |
E107G |
probably benign |
Het |
| Ccng2 |
C |
T |
5: 93,418,780 (GRCm39) |
A135V |
probably benign |
Het |
| Chd8 |
C |
A |
14: 52,441,566 (GRCm39) |
R842L |
probably damaging |
Het |
| Cldn18 |
T |
A |
9: 99,591,995 (GRCm39) |
T3S |
probably benign |
Het |
| Dhcr7 |
T |
C |
7: 143,390,468 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dusp26 |
T |
C |
8: 31,586,325 (GRCm39) |
V182A |
probably damaging |
Het |
| Eif3e |
T |
C |
15: 43,115,692 (GRCm39) |
D358G |
possibly damaging |
Het |
| Epha3 |
A |
T |
16: 63,388,806 (GRCm39) |
L814H |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,454,318 (GRCm39) |
N1877S |
probably damaging |
Het |
| Fpgs |
A |
T |
2: 32,577,953 (GRCm39) |
Y156* |
probably null |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm5591 |
T |
C |
7: 38,221,319 (GRCm39) |
D250G |
probably benign |
Het |
| Gtf2e2 |
C |
T |
8: 34,266,043 (GRCm39) |
R240* |
probably null |
Het |
| Hells |
G |
T |
19: 38,943,254 (GRCm39) |
Q519H |
probably benign |
Het |
| Hscb |
A |
G |
5: 110,987,360 (GRCm39) |
|
probably null |
Het |
| Inpp5k |
T |
A |
11: 75,537,640 (GRCm39) |
I350N |
probably damaging |
Het |
| Irf9 |
G |
A |
14: 55,843,799 (GRCm39) |
V221I |
possibly damaging |
Het |
| Itga8 |
A |
T |
2: 12,258,280 (GRCm39) |
Y261* |
probably null |
Het |
| Itprid2 |
G |
A |
2: 79,485,463 (GRCm39) |
D506N |
probably damaging |
Het |
| Lama1 |
C |
T |
17: 68,093,014 (GRCm39) |
T1684M |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,268,811 (GRCm39) |
H4157Q |
probably damaging |
Het |
| Nceh1 |
G |
T |
3: 27,276,956 (GRCm39) |
R93L |
probably damaging |
Het |
| Or2t49 |
A |
T |
11: 58,392,838 (GRCm39) |
C181* |
probably null |
Het |
| Phf11a |
C |
A |
14: 59,521,817 (GRCm39) |
C118F |
probably damaging |
Het |
| Purg |
A |
G |
8: 33,876,451 (GRCm39) |
K30E |
possibly damaging |
Het |
| Qprt |
C |
T |
7: 126,708,101 (GRCm39) |
R110H |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 73,725,039 (GRCm39) |
T1055A |
probably benign |
Het |
| Serpina3a |
T |
C |
12: 104,079,137 (GRCm39) |
F10L |
probably benign |
Het |
| Sidt1 |
A |
T |
16: 44,121,298 (GRCm39) |
|
probably null |
Het |
| Slc4a4 |
T |
A |
5: 89,194,231 (GRCm39) |
M237K |
probably benign |
Het |
| Slitrk5 |
A |
T |
14: 111,917,684 (GRCm39) |
D436V |
probably damaging |
Het |
| Snd1 |
T |
C |
6: 28,888,288 (GRCm39) |
Y908H |
probably damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,132,562 (GRCm39) |
V1132A |
probably benign |
Het |
| Speer3 |
A |
G |
5: 13,843,369 (GRCm39) |
E92G |
probably damaging |
Het |
| Strada |
T |
C |
11: 106,064,143 (GRCm39) |
E58G |
possibly damaging |
Het |
| Tbx10 |
A |
T |
19: 4,047,312 (GRCm39) |
K139* |
probably null |
Het |
| Tcf4 |
T |
C |
18: 69,766,651 (GRCm39) |
Y25H |
probably damaging |
Het |
| Tmem108 |
C |
T |
9: 103,376,960 (GRCm39) |
R163H |
possibly damaging |
Het |
| Top2b |
A |
G |
14: 16,399,026 (GRCm38) |
T549A |
possibly damaging |
Het |
| Tpcn2 |
A |
G |
7: 144,833,080 (GRCm39) |
I46T |
probably damaging |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Vipr2 |
T |
A |
12: 116,086,363 (GRCm39) |
Y129* |
probably null |
Het |
| Vps37a |
A |
T |
8: 40,993,749 (GRCm39) |
Q248L |
probably benign |
Het |
| Wrap53 |
T |
C |
11: 69,468,511 (GRCm39) |
I179V |
probably benign |
Het |
| Zan |
G |
A |
5: 137,450,750 (GRCm39) |
A1609V |
unknown |
Het |
| Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
probably benign |
Het |
| Zbtb5 |
G |
A |
4: 44,993,459 (GRCm39) |
R642W |
probably damaging |
Het |
| Zfyve27 |
A |
G |
19: 42,171,096 (GRCm39) |
|
probably null |
Het |
| Zup1 |
T |
C |
10: 33,825,252 (GRCm39) |
N77D |
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 |
|
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'- TGCAGCTTCCTCTGTGAGTTAG -3'
(R):5'- AGTCTTAGTCTGGCACCTTGG -3'
Sequencing Primer
(F):5'- CCTCTGTGAGTTAGGATTTGAAAG -3'
(R):5'- CTCTGGACCTTAATATACATGAAGC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation