Incidental Mutation 'R9317:Negr1'
| ID |
705907 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Negr1
|
| Ensembl Gene |
ENSMUSG00000040037 |
| Gene Name |
neuronal growth regulator 1 |
| Synonyms |
neurotractin, Ntra, 5330422G01Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9317 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
156267431-157022082 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 156904081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 315
(C315S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101680
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074015]
[ENSMUST00000106065]
|
| AlphaFold |
Q80Z24 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074015
|
| SMART Domains |
Protein: ENSMUSP00000073664
Gene: ENSMUSG00000040037
| 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: ENSMUST00000106065
AA Change: C315S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000101680
Gene: ENSMUSG00000040037
AA Change: C315S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (37/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad2 |
T |
C |
8: 120,342,180 (GRCm39) |
L307P |
probably damaging |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| C1qbp |
T |
C |
11: 70,868,929 (GRCm39) |
N278D |
probably benign |
Het |
| Cd68 |
C |
T |
11: 69,555,860 (GRCm39) |
|
probably null |
Het |
| Cdc37l1 |
T |
G |
19: 28,972,518 (GRCm39) |
N70K |
probably damaging |
Het |
| Cyp3a57 |
T |
C |
5: 145,309,421 (GRCm39) |
V253A |
possibly damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,829,575 (GRCm39) |
F795S |
probably damaging |
Het |
| Gli3 |
T |
A |
13: 15,889,658 (GRCm39) |
S591T |
probably damaging |
Het |
| Gmeb1 |
A |
T |
4: 131,953,349 (GRCm39) |
S472R |
probably benign |
Het |
| Gpr158 |
T |
C |
2: 21,832,037 (GRCm39) |
S1046P |
probably benign |
Het |
| Grik5 |
A |
G |
7: 24,745,660 (GRCm39) |
L471P |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,350,328 (GRCm39) |
R5075H |
possibly damaging |
Het |
| Hspa5 |
G |
T |
2: 34,666,070 (GRCm39) |
S638I |
probably benign |
Het |
| Ilf3 |
A |
G |
9: 21,307,422 (GRCm39) |
Y355C |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 33,834,045 (GRCm39) |
T2366A |
|
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or8b52 |
T |
A |
9: 38,576,655 (GRCm39) |
M162L |
probably benign |
Het |
| Prr5 |
C |
T |
15: 84,583,324 (GRCm39) |
Q110* |
probably null |
Het |
| Prune2 |
T |
A |
19: 17,099,034 (GRCm39) |
S1513T |
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,230,731 (GRCm39) |
E274G |
probably damaging |
Het |
| Qrfprl |
A |
C |
6: 65,424,368 (GRCm39) |
I174L |
probably benign |
Het |
| Rmdn3 |
G |
A |
2: 118,986,991 (GRCm39) |
A12V |
unknown |
Het |
| Rpf1 |
A |
G |
3: 146,218,016 (GRCm39) |
V166A |
probably benign |
Het |
| Senp5 |
A |
C |
16: 31,802,390 (GRCm39) |
F554C |
probably damaging |
Het |
| Smarca2 |
T |
C |
19: 26,737,279 (GRCm39) |
C65R |
possibly damaging |
Het |
| Sprr2j-ps |
T |
A |
3: 92,326,178 (GRCm39) |
C18S |
unknown |
Het |
| Sult2a6 |
A |
T |
7: 13,970,615 (GRCm39) |
Y160* |
probably null |
Het |
| Taar8a |
T |
C |
10: 23,952,753 (GRCm39) |
V119A |
probably benign |
Het |
| Tmtc3 |
T |
C |
10: 100,301,896 (GRCm39) |
K351R |
probably benign |
Het |
| Trpc1 |
A |
G |
9: 95,603,275 (GRCm39) |
L419P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,641,699 (GRCm39) |
K13466E |
possibly damaging |
Het |
| Unc13c |
A |
G |
9: 73,447,662 (GRCm39) |
F1846S |
possibly damaging |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Vmn2r72 |
A |
T |
7: 85,404,022 (GRCm39) |
N56K |
probably benign |
Het |
| Wdr12 |
C |
A |
1: 60,128,455 (GRCm39) |
M98I |
probably benign |
Het |
| Zfp953 |
T |
C |
13: 67,491,457 (GRCm39) |
Y165C |
possibly 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 |
|
|
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 |
|
|
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'- AAGGGGCATGATACCAACTGC -3'
(R):5'- ACACTTCAGGTCTGAGTTCTACTTC -3'
Sequencing Primer
(F):5'- TGATACCAACTGCTCACATAGTGGAG -3'
(R):5'- CTGTTGATGTGATAACTAACCACC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation