Incidental Mutation 'R3954:Ntng2'
| ID |
308084 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ntng2
|
| Ensembl Gene |
ENSMUSG00000035513 |
| Gene Name |
netrin G2 |
| Synonyms |
Lmnt2, 2610016D08Rik |
| MMRRC Submission |
040831-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R3954 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
29084738-29138111 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29097547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 305
(C305R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071190
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048455]
[ENSMUST00000071201]
[ENSMUST00000091153]
[ENSMUST00000102873]
[ENSMUST00000177689]
[ENSMUST00000183583]
|
| AlphaFold |
Q8R4F1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048455
AA Change: C305R
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000035468
Gene: ENSMUSG00000035513
AA Change: C305R
| Domain | Start | End | E-Value | Type |
|---|
|
LamNT
|
33 |
285 |
2.79e-15 |
SMART |
|
EGF_Lam
|
287 |
344 |
1.41e-5 |
SMART |
|
low complexity region
|
372 |
385 |
N/A |
INTRINSIC |
|
EGF_Lam
|
413 |
466 |
5.28e-5 |
SMART |
|
EGF_Lam
|
469 |
511 |
4.12e-7 |
SMART |
|
EGF
|
515 |
547 |
2.26e-4 |
SMART |
|
low complexity region
|
574 |
589 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071201
AA Change: C305R
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000071190
Gene: ENSMUSG00000035513
AA Change: C305R
| Domain | Start | End | E-Value | Type |
|---|
|
LamNT
|
33 |
285 |
2.79e-15 |
SMART |
|
EGF_Lam
|
287 |
346 |
9.19e-5 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091153
AA Change: C305R
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000088688
Gene: ENSMUSG00000035513
AA Change: C305R
| Domain | Start | End | E-Value | Type |
|---|
|
LamNT
|
33 |
285 |
2.79e-15 |
SMART |
|
EGF_Lam
|
287 |
344 |
1.41e-5 |
SMART |
|
EGF_Lam
|
388 |
441 |
5.28e-5 |
SMART |
|
EGF_Lam
|
444 |
486 |
4.12e-7 |
SMART |
|
EGF
|
490 |
522 |
2.26e-4 |
SMART |
|
low complexity region
|
549 |
564 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102873
AA Change: C305R
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099937
Gene: ENSMUSG00000035513
AA Change: C305R
| Domain | Start | End | E-Value | Type |
|---|
|
LamNT
|
33 |
285 |
2.79e-15 |
SMART |
|
EGF_Lam
|
287 |
344 |
1.41e-5 |
SMART |
|
EGF_Lam
|
354 |
407 |
5.28e-5 |
SMART |
|
EGF_Lam
|
410 |
452 |
4.12e-7 |
SMART |
|
EGF
|
456 |
488 |
2.26e-4 |
SMART |
|
low complexity region
|
515 |
530 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125765
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143194
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147274
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177689
AA Change: C305R
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000136659
Gene: ENSMUSG00000035513
AA Change: C305R
| Domain | Start | End | E-Value | Type |
|---|
|
LamNT
|
33 |
285 |
2.79e-15 |
SMART |
|
EGF_Lam
|
287 |
344 |
1.41e-5 |
SMART |
|
EGF_Lam
|
354 |
407 |
5.28e-5 |
SMART |
|
EGF_Lam
|
410 |
452 |
4.12e-7 |
SMART |
|
EGF
|
456 |
488 |
2.26e-4 |
SMART |
|
low complexity region
|
515 |
530 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183583
AA Change: C305R
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139034
Gene: ENSMUSG00000035513
AA Change: C305R
| Domain | Start | End | E-Value | Type |
|---|
|
LamNT
|
33 |
285 |
2.79e-15 |
SMART |
|
EGF_Lam
|
287 |
344 |
1.41e-5 |
SMART |
|
low complexity region
|
345 |
368 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147897
|
| Meta Mutation Damage Score |
0.9681 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
98% (42/43) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene belongs to a subclass of the netrin family called netrin-G proteins. Unlike classic netrins, which act as diffusible chemoattractants, netrin-Gs are glycosylphosphatidylinositol-anchored membrane proteins that interact with specific transmembrane proteins. In mouse, this gene is preferentially expressed in the cerebral cortex, habenular nucleus and superior colliculus. Knockout mutant mice display a lack of behavioral startle in response to acoustic stimuli. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit an absence of startle reflex and abnormal ABR amplitude. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
G |
10: 29,100,805 (GRCm39) |
K393E |
possibly damaging |
Het |
| Aagab |
A |
G |
9: 63,526,442 (GRCm39) |
E155G |
probably damaging |
Het |
| Acad11 |
A |
G |
9: 103,963,351 (GRCm39) |
|
probably benign |
Het |
| Adam2 |
G |
A |
14: 66,295,059 (GRCm39) |
S262L |
probably damaging |
Het |
| Ankle2 |
A |
G |
5: 110,399,541 (GRCm39) |
T633A |
probably benign |
Het |
| Arhgef19 |
A |
G |
4: 140,983,645 (GRCm39) |
Y726C |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| B3galnt2 |
A |
G |
13: 14,141,039 (GRCm39) |
Q87R |
probably benign |
Het |
| Carmil1 |
A |
G |
13: 24,197,390 (GRCm39) |
S1349P |
probably benign |
Het |
| Cfap52 |
C |
A |
11: 67,821,691 (GRCm39) |
V446L |
probably benign |
Het |
| Cgnl1 |
T |
C |
9: 71,631,945 (GRCm39) |
N469D |
probably benign |
Het |
| Clspn |
ACGGCGGCGGC |
A |
4: 126,460,230 (GRCm39) |
|
probably null |
Het |
| Cpsf3 |
A |
G |
12: 21,363,806 (GRCm39) |
D632G |
probably benign |
Het |
| Cyp3a57 |
A |
T |
5: 145,286,135 (GRCm39) |
|
probably null |
Het |
| Dennd5a |
A |
G |
7: 109,504,906 (GRCm39) |
M868T |
probably benign |
Het |
| Dlg1 |
T |
C |
16: 31,676,826 (GRCm39) |
Y792H |
probably damaging |
Het |
| Dusp13b |
T |
A |
14: 21,790,175 (GRCm39) |
D57V |
probably damaging |
Het |
| Galnt6 |
A |
G |
15: 100,595,049 (GRCm39) |
V484A |
possibly damaging |
Het |
| Hbq1a |
T |
C |
11: 32,250,214 (GRCm39) |
|
probably null |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Igkv4-79 |
A |
G |
6: 69,020,229 (GRCm39) |
S29P |
possibly damaging |
Het |
| Lamp5 |
G |
A |
2: 135,902,928 (GRCm39) |
D216N |
probably damaging |
Het |
| Me2 |
A |
G |
18: 73,914,203 (GRCm39) |
F443L |
probably damaging |
Het |
| Ncam2 |
G |
A |
16: 81,386,612 (GRCm39) |
V664M |
probably damaging |
Het |
| Ndst4 |
T |
C |
3: 125,231,554 (GRCm39) |
M41T |
probably benign |
Het |
| Nkx6-3 |
G |
T |
8: 23,643,742 (GRCm39) |
A48S |
possibly damaging |
Het |
| Nup210l |
A |
T |
3: 90,100,361 (GRCm39) |
R1462S |
possibly damaging |
Het |
| Odad1 |
A |
G |
7: 45,591,100 (GRCm39) |
K192E |
probably damaging |
Het |
| Omd |
A |
T |
13: 49,743,213 (GRCm39) |
I88F |
probably benign |
Het |
| Or51f1 |
A |
G |
7: 102,505,824 (GRCm39) |
C222R |
probably damaging |
Het |
| Pi4k2a |
G |
A |
19: 42,104,338 (GRCm39) |
A367T |
probably damaging |
Het |
| Pramel30 |
A |
C |
4: 144,058,238 (GRCm39) |
M282L |
probably benign |
Het |
| Prph2 |
T |
C |
17: 47,221,644 (GRCm39) |
F8L |
probably benign |
Het |
| Qng1 |
A |
G |
13: 58,532,203 (GRCm39) |
S118P |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,130,974 (GRCm39) |
S696P |
probably damaging |
Het |
| Slc26a1 |
T |
C |
5: 108,821,448 (GRCm39) |
D147G |
possibly damaging |
Het |
| Tec |
T |
C |
5: 72,939,520 (GRCm39) |
|
probably null |
Het |
| Tmem131l |
C |
A |
3: 83,817,726 (GRCm39) |
C1257F |
probably damaging |
Het |
| Trim30d |
C |
T |
7: 104,121,728 (GRCm39) |
G339D |
probably damaging |
Het |
| Ttc6 |
T |
C |
12: 57,744,238 (GRCm39) |
V1290A |
probably benign |
Het |
| Vmn1r124 |
A |
G |
7: 20,994,448 (GRCm39) |
V32A |
possibly damaging |
Het |
| Zc3h13 |
T |
A |
14: 75,567,178 (GRCm39) |
S921T |
possibly damaging |
Het |
|
| Other mutations in Ntng2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0388:Ntng2
|
UTSW |
2 |
29,097,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0526:Ntng2
|
UTSW |
2 |
29,087,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1835:Ntng2
|
UTSW |
2 |
29,087,069 (GRCm39) |
nonsense |
probably null |
|
|
R1961:Ntng2
|
UTSW |
2 |
29,087,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2507:Ntng2
|
UTSW |
2 |
29,097,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2920:Ntng2
|
UTSW |
2 |
29,094,223 (GRCm39) |
missense |
probably benign |
|
|
R3944:Ntng2
|
UTSW |
2 |
29,094,289 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6235:Ntng2
|
UTSW |
2 |
29,117,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6742:Ntng2
|
UTSW |
2 |
29,090,940 (GRCm39) |
missense |
probably benign |
|
|
R6751:Ntng2
|
UTSW |
2 |
29,118,055 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6774:Ntng2
|
UTSW |
2 |
29,087,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6907:Ntng2
|
UTSW |
2 |
29,118,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6964:Ntng2
|
UTSW |
2 |
29,087,041 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6995:Ntng2
|
UTSW |
2 |
29,087,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7214:Ntng2
|
UTSW |
2 |
29,117,732 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7249:Ntng2
|
UTSW |
2 |
29,118,004 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7825:Ntng2
|
UTSW |
2 |
29,094,090 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8337:Ntng2
|
UTSW |
2 |
29,138,050 (GRCm39) |
start codon destroyed |
probably null |
0.88 |
|
R8775:Ntng2
|
UTSW |
2 |
29,117,976 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8775-TAIL:Ntng2
|
UTSW |
2 |
29,117,976 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9058:Ntng2
|
UTSW |
2 |
29,094,202 (GRCm39) |
missense |
probably benign |
|
|
R9203:Ntng2
|
UTSW |
2 |
29,084,998 (GRCm39) |
nonsense |
probably null |
|
|
R9319:Ntng2
|
UTSW |
2 |
29,091,121 (GRCm39) |
intron |
probably benign |
|
|
R9411:Ntng2
|
UTSW |
2 |
29,138,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9480:Ntng2
|
UTSW |
2 |
29,137,997 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9512:Ntng2
|
UTSW |
2 |
29,117,969 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
X0023:Ntng2
|
UTSW |
2 |
29,087,075 (GRCm39) |
nonsense |
probably null |
|
|
X0028:Ntng2
|
UTSW |
2 |
29,087,161 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTATCCATGTCAGCTGCCC -3'
(R):5'- GAGTGTGCAGTGGATCTCTC -3'
Sequencing Primer
(F):5'- TGCACGTGTGAGCCACC -3'
(R):5'- GTGCAGTGGATCTCTCCTCCAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation