Incidental Mutation 'R4874:Negr1'
ID |
376766 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Negr1
|
Ensembl Gene |
ENSMUSG00000040037 |
Gene Name |
neuronal growth regulator 1 |
Synonyms |
neurotractin, Ntra, 5330422G01Rik |
MMRRC Submission |
042484-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4874 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
156267431-157022082 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 156565082 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 56
(L56S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101680
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041425]
[ENSMUST00000074015]
[ENSMUST00000106065]
[ENSMUST00000175773]
|
AlphaFold |
Q80Z24 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041425
AA Change: L56S
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000041132 Gene: ENSMUSG00000040037 AA Change: L56S
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 benign
Transcript: ENSMUST00000074015
AA Change: L56S
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000073664 Gene: ENSMUSG00000040037 AA Change: L56S
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: L56S
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000101680 Gene: ENSMUSG00000040037 AA Change: L56S
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 benign
Transcript: ENSMUST00000175773
|
SMART Domains |
Protein: ENSMUSP00000135531 Gene: ENSMUSG00000040037
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
26 |
N/A |
INTRINSIC |
IG
|
39 |
101 |
6.97e-3 |
SMART |
|
Meta Mutation Damage Score |
0.4435 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
94% (51/54) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadat |
G |
A |
8: 60,969,147 (GRCm39) |
|
probably null |
Het |
Adamtsl1 |
A |
G |
4: 86,260,729 (GRCm39) |
N988S |
possibly damaging |
Het |
Aph1b |
A |
T |
9: 66,697,878 (GRCm39) |
|
probably null |
Het |
B4galnt3 |
C |
A |
6: 120,184,167 (GRCm39) |
R880L |
probably damaging |
Het |
Bcam |
T |
C |
7: 19,503,247 (GRCm39) |
|
probably benign |
Het |
Cr2 |
A |
T |
1: 194,858,878 (GRCm39) |
I14N |
possibly damaging |
Het |
Dcdc5 |
T |
C |
2: 106,198,451 (GRCm39) |
|
noncoding transcript |
Het |
Dll1 |
A |
T |
17: 15,590,501 (GRCm39) |
M405K |
probably benign |
Het |
Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
Ern2 |
T |
C |
7: 121,775,810 (GRCm39) |
D428G |
probably benign |
Het |
Esp36 |
A |
T |
17: 38,727,987 (GRCm39) |
M98K |
unknown |
Het |
Foxd2 |
G |
T |
4: 114,764,768 (GRCm39) |
H417Q |
possibly damaging |
Het |
Glrb |
T |
C |
3: 80,758,349 (GRCm39) |
N304D |
possibly damaging |
Het |
Haus3 |
A |
G |
5: 34,324,972 (GRCm39) |
V229A |
probably benign |
Het |
Hpgd |
A |
T |
8: 56,770,838 (GRCm39) |
I159F |
possibly damaging |
Het |
Ighv1-22 |
T |
A |
12: 114,710,036 (GRCm39) |
I70F |
probably benign |
Het |
Il16 |
A |
T |
7: 83,310,153 (GRCm39) |
F584L |
possibly damaging |
Het |
Lamc2 |
T |
C |
1: 153,030,141 (GRCm39) |
D167G |
probably null |
Het |
Megf10 |
G |
A |
18: 57,426,930 (GRCm39) |
V1083I |
probably benign |
Het |
Mertk |
T |
C |
2: 128,592,079 (GRCm39) |
S268P |
probably damaging |
Het |
Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
Mki67 |
T |
C |
7: 135,310,500 (GRCm39) |
D132G |
probably damaging |
Het |
Nbas |
A |
G |
12: 13,371,756 (GRCm39) |
N419D |
probably damaging |
Het |
Nup214 |
A |
G |
2: 31,870,596 (GRCm39) |
|
probably null |
Het |
Opn5 |
C |
G |
17: 42,891,610 (GRCm39) |
A276P |
probably damaging |
Het |
Or10j5 |
A |
G |
1: 172,785,166 (GRCm39) |
E268G |
probably benign |
Het |
Or2d3 |
C |
T |
7: 106,490,642 (GRCm39) |
V225I |
probably benign |
Het |
Or5t9 |
T |
A |
2: 86,659,598 (GRCm39) |
H167Q |
probably damaging |
Het |
Papln |
G |
T |
12: 83,823,917 (GRCm39) |
V499L |
probably benign |
Het |
Pgap1 |
A |
T |
1: 54,569,296 (GRCm39) |
W357R |
probably damaging |
Het |
Pibf1 |
T |
C |
14: 99,377,992 (GRCm39) |
Y373H |
probably damaging |
Het |
Pitpnm1 |
T |
C |
19: 4,162,252 (GRCm39) |
|
probably null |
Het |
Prcd |
T |
A |
11: 116,550,597 (GRCm39) |
W3R |
probably null |
Het |
Prkaa1 |
A |
G |
15: 5,203,838 (GRCm39) |
N249S |
probably benign |
Het |
Reg3b |
T |
A |
6: 78,349,809 (GRCm39) |
N116K |
possibly damaging |
Het |
Rpusd2 |
T |
C |
2: 118,865,360 (GRCm39) |
L19P |
probably benign |
Het |
Rufy1 |
T |
C |
11: 50,297,277 (GRCm39) |
T392A |
possibly damaging |
Het |
Sall3 |
T |
C |
18: 81,017,188 (GRCm39) |
K247E |
probably benign |
Het |
Shank1 |
C |
T |
7: 43,965,497 (GRCm39) |
T191M |
unknown |
Het |
Slit1 |
C |
T |
19: 41,717,493 (GRCm39) |
|
probably null |
Het |
Sorl1 |
A |
T |
9: 41,975,048 (GRCm39) |
V520E |
probably damaging |
Het |
Vmn2r115 |
T |
A |
17: 23,578,825 (GRCm39) |
F766Y |
probably damaging |
Het |
Wdr87-ps |
A |
G |
7: 29,235,608 (GRCm39) |
|
noncoding transcript |
Het |
Zfp644 |
A |
G |
5: 106,783,279 (GRCm39) |
S1032P |
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 |
R1324:Negr1
|
UTSW |
3 |
156,774,860 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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'- GTTTGGCTCTGAACTGAAGCAC -3'
(R):5'- ACTCACCTTGCACAGTGAGATG -3'
Sequencing Primer
(F):5'- TGAAGCACAGGCATACACACAG -3'
(R):5'- AGATGAACCTGCATTGTCCG -3'
|
Posted On |
2016-03-17 |