Incidental Mutation 'R1324:Negr1'
| ID |
157155 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Negr1
|
| Ensembl Gene |
ENSMUSG00000040037 |
| Gene Name |
neuronal growth regulator 1 |
| Synonyms |
neurotractin, Ntra, 5330422G01Rik |
| MMRRC Submission |
039390-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1324 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
156267431-157022082 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 156774860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 192
(A192V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101680
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041425]
[ENSMUST00000074015]
[ENSMUST00000106065]
|
| AlphaFold |
Q80Z24 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041425
AA Change: A192V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041132
Gene: ENSMUSG00000040037
AA Change: A192V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
IG
|
39 |
130 |
2.52e-9 |
SMART |
|
IGc2
|
145 |
204 |
3.22e-16 |
SMART |
|
IGc2
|
230 |
298 |
3.82e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074015
AA Change: A192V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073664
Gene: ENSMUSG00000040037
AA Change: A192V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
IG
|
39 |
130 |
2.52e-9 |
SMART |
|
IGc2
|
145 |
204 |
3.22e-16 |
SMART |
|
IGc2
|
230 |
298 |
3.82e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106065
AA Change: A192V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101680
Gene: ENSMUSG00000040037
AA Change: A192V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
IG
|
39 |
130 |
2.52e-9 |
SMART |
|
IGc2
|
145 |
204 |
3.22e-16 |
SMART |
|
IGc2
|
230 |
298 |
3.82e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196666
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out or ENU-induced allele exhibit reduced body weight. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap10 |
T |
A |
11: 61,805,847 (GRCm39) |
|
probably null |
Het |
| Col11a1 |
A |
G |
3: 113,824,565 (GRCm39) |
R6G |
unknown |
Het |
| Enam |
A |
T |
5: 88,641,927 (GRCm39) |
Y172F |
possibly damaging |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,832,525 (GRCm39) |
|
probably null |
Het |
| Lmnb2 |
T |
C |
10: 80,740,005 (GRCm39) |
I330V |
possibly damaging |
Het |
| Myom1 |
T |
A |
17: 71,359,714 (GRCm39) |
I462N |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nrxn3 |
T |
C |
12: 89,221,466 (GRCm39) |
I42T |
possibly damaging |
Het |
| Pheta2 |
A |
G |
15: 82,227,699 (GRCm39) |
T73A |
probably damaging |
Het |
| Rnf141 |
G |
A |
7: 110,416,050 (GRCm39) |
R184* |
probably null |
Het |
| Serpinb6a |
A |
T |
13: 34,102,343 (GRCm39) |
L273H |
probably damaging |
Het |
| Thoc6 |
G |
T |
17: 23,896,437 (GRCm39) |
|
probably null |
Het |
| Tmem39a |
T |
A |
16: 38,393,531 (GRCm39) |
F77I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,611,930 (GRCm39) |
D15578G |
probably damaging |
Het |
| Usp25 |
T |
A |
16: 76,877,275 (GRCm39) |
M587K |
probably damaging |
Het |
|
| Other mutations in Negr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01284:Negr1
|
APN |
3 |
156,851,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01635:Negr1
|
APN |
3 |
156,267,929 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02006:Negr1
|
APN |
3 |
156,721,810 (GRCm39) |
splice site |
probably benign |
|
|
IGL02427:Negr1
|
APN |
3 |
156,267,827 (GRCm39) |
start gained |
probably benign |
|
|
IGL02542:Negr1
|
APN |
3 |
156,267,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4466001:Negr1
|
UTSW |
3 |
156,565,235 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0241:Negr1
|
UTSW |
3 |
156,914,036 (GRCm39) |
intron |
probably benign |
|
|
R0496:Negr1
|
UTSW |
3 |
156,721,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0506:Negr1
|
UTSW |
3 |
156,866,385 (GRCm39) |
splice site |
probably benign |
|
|
R0507:Negr1
|
UTSW |
3 |
156,267,862 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0634:Negr1
|
UTSW |
3 |
156,721,903 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1923:Negr1
|
UTSW |
3 |
156,267,836 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4569:Negr1
|
UTSW |
3 |
156,914,013 (GRCm39) |
intron |
probably benign |
|
|
R4592:Negr1
|
UTSW |
3 |
156,914,023 (GRCm39) |
intron |
probably benign |
|
|
R4874:Negr1
|
UTSW |
3 |
156,565,082 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5137:Negr1
|
UTSW |
3 |
156,721,833 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5330:Negr1
|
UTSW |
3 |
156,774,913 (GRCm39) |
nonsense |
probably null |
|
|
R5331:Negr1
|
UTSW |
3 |
156,774,913 (GRCm39) |
nonsense |
probably null |
|
|
R5974:Negr1
|
UTSW |
3 |
156,774,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6560:Negr1
|
UTSW |
3 |
157,018,494 (GRCm39) |
missense |
probably benign |
|
|
R7506:Negr1
|
UTSW |
3 |
156,774,870 (GRCm39) |
nonsense |
probably null |
|
|
R7677:Negr1
|
UTSW |
3 |
156,774,823 (GRCm39) |
nonsense |
probably null |
|
|
R8080:Negr1
|
UTSW |
3 |
156,866,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8523:Negr1
|
UTSW |
3 |
156,866,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8950:Negr1
|
UTSW |
3 |
156,721,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8997:Negr1
|
UTSW |
3 |
156,721,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9082:Negr1
|
UTSW |
3 |
156,774,876 (GRCm39) |
nonsense |
probably null |
|
|
R9317:Negr1
|
UTSW |
3 |
156,904,081 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9691:Negr1
|
UTSW |
3 |
156,267,898 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9715:Negr1
|
UTSW |
3 |
156,774,936 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACATTGTGAGGACGTGGTTCAGG -3'
(R):5'- AGTGCTGGGCATGAACATGATACTG -3'
Sequencing Primer
(F):5'- GAACACATGGGCATTCTGC -3'
(R):5'- CAAACCATTGCTGGGATCTG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation