Incidental Mutation 'R6742:Ntng2'
| ID |
530474 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ntng2
|
| Ensembl Gene |
ENSMUSG00000035513 |
| Gene Name |
netrin G2 |
| Synonyms |
Lmnt2, 2610016D08Rik |
| MMRRC Submission |
044859-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R6742 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
29084738-29138111 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 29090940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 360
(M360L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048455]
[ENSMUST00000071201]
[ENSMUST00000091153]
[ENSMUST00000102873]
[ENSMUST00000177689]
[ENSMUST00000183583]
|
| AlphaFold |
Q8R4F1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048455
AA Change: M360L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000035468
Gene: ENSMUSG00000035513
AA Change: M360L
| 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 benign
Transcript: ENSMUST00000071201
|
| SMART Domains |
Protein: ENSMUSP00000071190
Gene: ENSMUSG00000035513
| Domain | Start | End | E-Value | Type |
|---|
|
LamNT
|
33 |
285 |
2.79e-15 |
SMART |
|
EGF_Lam
|
287 |
346 |
9.19e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091153
|
| SMART Domains |
Protein: ENSMUSP00000088688
Gene: ENSMUSG00000035513
| 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 |
probably benign
Transcript: ENSMUST00000102873
|
| SMART Domains |
Protein: ENSMUSP00000099937
Gene: ENSMUSG00000035513
| 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
|
| SMART Domains |
Protein: ENSMUSP00000136659
Gene: ENSMUSG00000035513
| 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 |
probably benign
Transcript: ENSMUST00000183583
|
| SMART Domains |
Protein: ENSMUSP00000139034
Gene: ENSMUSG00000035513
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (46/46) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,654,995 (GRCm39) |
R1440G |
probably benign |
Het |
| Abca13 |
T |
A |
11: 9,278,168 (GRCm39) |
L3116Q |
probably damaging |
Het |
| Adgb |
G |
A |
10: 10,287,593 (GRCm39) |
H55Y |
probably damaging |
Het |
| AI182371 |
G |
T |
2: 34,974,717 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,827,412 (GRCm39) |
|
probably benign |
Het |
| Ccdc127 |
G |
T |
13: 74,501,042 (GRCm39) |
G20W |
probably damaging |
Het |
| Ccdc149 |
G |
A |
5: 52,562,475 (GRCm39) |
Q184* |
probably null |
Het |
| Cntrob |
G |
A |
11: 69,213,749 (GRCm39) |
P14S |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,077,629 (GRCm39) |
E1288G |
possibly damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,113,640 (GRCm39) |
D1350G |
possibly damaging |
Het |
| Fasn |
T |
C |
11: 120,701,279 (GRCm39) |
T1990A |
probably damaging |
Het |
| Itga2 |
T |
A |
13: 114,973,061 (GRCm39) |
N1166I |
possibly damaging |
Het |
| Lmtk2 |
T |
A |
5: 144,085,175 (GRCm39) |
C216S |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,361,132 (GRCm39) |
D557G |
probably benign |
Het |
| Lrrc32 |
T |
C |
7: 98,148,039 (GRCm39) |
V273A |
probably benign |
Het |
| Nlrp4f |
C |
T |
13: 65,335,254 (GRCm39) |
|
probably null |
Het |
| Pik3c2b |
A |
G |
1: 133,003,559 (GRCm39) |
S504G |
probably benign |
Het |
| Ppfia4 |
A |
C |
1: 134,256,909 (GRCm39) |
L104R |
probably damaging |
Het |
| Raph1 |
A |
G |
1: 60,564,879 (GRCm39) |
S203P |
probably damaging |
Het |
| Rbl1 |
G |
A |
2: 157,011,918 (GRCm39) |
T679I |
probably benign |
Het |
| Rnase4 |
G |
T |
14: 51,342,486 (GRCm39) |
R70L |
probably benign |
Het |
| Rnf146 |
A |
C |
10: 29,223,528 (GRCm39) |
D119E |
probably damaging |
Het |
| Rrp1b |
A |
G |
17: 32,275,908 (GRCm39) |
H485R |
probably benign |
Het |
| Rwdd4a |
T |
A |
8: 48,000,998 (GRCm39) |
|
probably null |
Het |
| Scarf2 |
G |
A |
16: 17,624,351 (GRCm39) |
C552Y |
probably damaging |
Het |
| Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
| Sox10 |
T |
C |
15: 79,040,676 (GRCm39) |
N127S |
probably damaging |
Het |
| Speer4a1 |
A |
T |
5: 26,241,054 (GRCm39) |
|
probably null |
Het |
| Tars1 |
A |
T |
15: 11,394,427 (GRCm39) |
I70N |
probably damaging |
Het |
| Thsd7a |
C |
T |
6: 12,408,815 (GRCm39) |
V736M |
probably damaging |
Het |
| Timp3 |
G |
A |
10: 86,136,742 (GRCm39) |
V9M |
probably benign |
Het |
| Tnfrsf1a |
A |
T |
6: 125,333,911 (GRCm39) |
N55Y |
probably damaging |
Het |
| Trim43a |
G |
A |
9: 88,470,399 (GRCm39) |
V402I |
possibly damaging |
Het |
| Tshz2 |
A |
G |
2: 169,725,677 (GRCm39) |
D91G |
probably damaging |
Het |
| Ubac1 |
T |
C |
2: 25,895,418 (GRCm39) |
D345G |
possibly damaging |
Het |
| Usp4 |
G |
A |
9: 108,251,438 (GRCm39) |
V538I |
possibly damaging |
Het |
| Vmn2r19 |
A |
T |
6: 123,306,917 (GRCm39) |
Y475F |
possibly damaging |
Het |
| Vmn2r87 |
A |
T |
10: 130,308,396 (GRCm39) |
V614E |
probably damaging |
Het |
| Wfdc2 |
A |
T |
2: 164,404,706 (GRCm39) |
T21S |
probably benign |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zfp78 |
A |
G |
7: 6,381,277 (GRCm39) |
E109G |
probably damaging |
Het |
| Zfp873 |
C |
A |
10: 81,894,256 (GRCm39) |
A19D |
probably damaging |
Het |
| Zfp935 |
T |
A |
13: 62,602,293 (GRCm39) |
K302N |
probably damaging |
Het |
| Zfpm2 |
G |
A |
15: 40,965,114 (GRCm39) |
S401N |
probably benign |
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 |
|
R3954:Ntng2
|
UTSW |
2 |
29,097,547 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6235:Ntng2
|
UTSW |
2 |
29,117,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TAGCTACAGGCCTTTTACCTCATTG -3'
(R):5'- AGCCTCTGCAGCTGCTATAG -3'
Sequencing Primer
(F):5'- TAAGTTCTGCCACCCCACG -3'
(R):5'- CCTCTGCAGCTGCTATAGTATAGAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation