Incidental Mutation 'IGL02859:Nrn1'
| ID |
362107 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nrn1
|
| Ensembl Gene |
ENSMUSG00000039114 |
| Gene Name |
neuritin 1 |
| Synonyms |
0710008J23Rik, cpg15 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.317)
|
| Stock # |
IGL02859
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
36909596-36918451 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 36914080 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037623]
[ENSMUST00000122286]
[ENSMUST00000223611]
[ENSMUST00000224323]
[ENSMUST00000224960]
|
| AlphaFold |
Q8CFV4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037623
|
| SMART Domains |
Protein: ENSMUSP00000040900
Gene: ENSMUSG00000039114
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:NRN1
|
31 |
120 |
1e-47 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000122286
|
| SMART Domains |
Protein: ENSMUSP00000113721
Gene: ENSMUSG00000039114
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NRN1
|
47 |
133 |
2.7e-42 |
PFAM |
|
transmembrane domain
|
134 |
156 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000223611
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223623
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224323
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224960
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225048
|
| Meta Mutation Damage Score |
0.9484 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the neuritin family, and is expressed in postmitotic-differentiating neurons of the developmental nervous system and neuronal structures associated with plasticity in the adult. The expression of this gene can be induced by neural activity and neurotrophins. The encoded protein contains a consensus cleavage signal found in glycosylphoshatidylinositol (GPI)-anchored proteins. The encoded protein promotes neurite outgrowth and arborization, suggesting its role in promoting neuritogenesis. Overexpression of the encoded protein may be associated with astrocytoma progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a reduction in body length and body weight, delayed axonal, dendritic, and synaptic development, reduced dendritic spine maintenance leading to gradual spine loss, and impaired associative and spatial learning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,415,818 (GRCm39) |
Y637F |
possibly damaging |
Het |
| Abcc4 |
A |
G |
14: 118,753,912 (GRCm39) |
I1025T |
probably damaging |
Het |
| Adam22 |
C |
A |
5: 8,217,375 (GRCm39) |
R140L |
probably damaging |
Het |
| Ahdc1 |
C |
A |
4: 132,790,003 (GRCm39) |
L415I |
possibly damaging |
Het |
| Ahdc1 |
T |
A |
4: 132,790,004 (GRCm39) |
L415H |
probably damaging |
Het |
| Bivm |
C |
A |
1: 44,176,159 (GRCm39) |
S305* |
probably null |
Het |
| Clca4b |
C |
T |
3: 144,617,800 (GRCm39) |
D768N |
probably benign |
Het |
| Cobl |
T |
A |
11: 12,319,602 (GRCm39) |
N31Y |
probably damaging |
Het |
| Col4a5 |
G |
A |
X: 140,392,846 (GRCm39) |
C484Y |
unknown |
Het |
| Ctnnd1 |
T |
C |
2: 84,450,253 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,383,771 (GRCm39) |
T2998A |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,772,445 (GRCm39) |
|
probably benign |
Het |
| F2 |
T |
C |
2: 91,456,087 (GRCm39) |
D558G |
probably damaging |
Het |
| Gle1 |
T |
A |
2: 29,839,240 (GRCm39) |
W511R |
probably damaging |
Het |
| Gm11564 |
C |
T |
11: 99,705,953 (GRCm39) |
S159N |
unknown |
Het |
| Htr6 |
A |
G |
4: 138,801,745 (GRCm39) |
C110R |
probably damaging |
Het |
| Ikbke |
T |
A |
1: 131,197,934 (GRCm39) |
S391C |
probably damaging |
Het |
| Itgae |
T |
C |
11: 73,005,693 (GRCm39) |
F286L |
probably damaging |
Het |
| Kcnb2 |
A |
T |
1: 15,780,730 (GRCm39) |
H534L |
probably damaging |
Het |
| Map1b |
T |
C |
13: 99,569,544 (GRCm39) |
Y1059C |
unknown |
Het |
| Mul1 |
A |
G |
4: 138,165,660 (GRCm39) |
T106A |
probably damaging |
Het |
| Nf2 |
T |
A |
11: 4,741,209 (GRCm39) |
E249V |
probably damaging |
Het |
| Nlrp1a |
T |
C |
11: 70,996,912 (GRCm39) |
S965G |
possibly damaging |
Het |
| Optc |
T |
C |
1: 133,829,799 (GRCm39) |
T204A |
probably damaging |
Het |
| Or51f1d |
T |
C |
7: 102,701,345 (GRCm39) |
V280A |
probably benign |
Het |
| Or8k37 |
T |
C |
2: 86,469,992 (GRCm39) |
N20S |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,589,912 (GRCm39) |
R787Q |
probably damaging |
Het |
| Pim1 |
G |
A |
17: 29,710,909 (GRCm39) |
E171K |
probably damaging |
Het |
| Pnpt1 |
T |
C |
11: 29,088,162 (GRCm39) |
V191A |
probably damaging |
Het |
| Rbbp8 |
G |
A |
18: 11,871,671 (GRCm39) |
R796Q |
probably benign |
Het |
| Serpinb9e |
A |
G |
13: 33,435,633 (GRCm39) |
D22G |
possibly damaging |
Het |
| Sit1 |
C |
T |
4: 43,482,831 (GRCm39) |
M109I |
probably benign |
Het |
| Slc17a8 |
A |
G |
10: 89,412,446 (GRCm39) |
V329A |
probably benign |
Het |
| Smg1 |
T |
A |
7: 117,748,156 (GRCm39) |
|
probably benign |
Het |
| Snx7 |
T |
A |
3: 117,623,320 (GRCm39) |
|
probably benign |
Het |
| Stat2 |
A |
T |
10: 128,112,480 (GRCm39) |
E40V |
probably damaging |
Het |
| Vegfa |
C |
T |
17: 46,335,421 (GRCm39) |
S291N |
probably benign |
Het |
| Vmn1r61 |
G |
T |
7: 5,614,288 (GRCm39) |
L9I |
probably benign |
Het |
| Wbp4 |
T |
C |
14: 79,708,129 (GRCm39) |
K163E |
probably damaging |
Het |
|
| Other mutations in Nrn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01139:Nrn1
|
APN |
13 |
36,914,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02801:Nrn1
|
APN |
13 |
36,914,080 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02816:Nrn1
|
APN |
13 |
36,914,080 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02838:Nrn1
|
APN |
13 |
36,914,080 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02881:Nrn1
|
APN |
13 |
36,914,080 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02900:Nrn1
|
APN |
13 |
36,914,080 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02927:Nrn1
|
APN |
13 |
36,914,080 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02938:Nrn1
|
APN |
13 |
36,914,080 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02942:Nrn1
|
APN |
13 |
36,914,080 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03144:Nrn1
|
APN |
13 |
36,914,080 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02802:Nrn1
|
UTSW |
13 |
36,914,080 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0172:Nrn1
|
UTSW |
13 |
36,914,544 (GRCm39) |
missense |
probably benign |
|
|
R2126:Nrn1
|
UTSW |
13 |
36,914,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5986:Nrn1
|
UTSW |
13 |
36,918,238 (GRCm39) |
nonsense |
probably null |
|
|
R7226:Nrn1
|
UTSW |
13 |
36,914,577 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7426:Nrn1
|
UTSW |
13 |
36,910,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8224:Nrn1
|
UTSW |
13 |
36,918,258 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9294:Nrn1
|
UTSW |
13 |
36,910,648 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-12-18 |
Incidental Mutation