Incidental Mutation 'R8775-TAIL:Ntng2'
| ID |
668011 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ntng2
|
| Ensembl Gene |
ENSMUSG00000035513 |
| Gene Name |
netrin G2 |
| Synonyms |
Lmnt2, 2610016D08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R8775-TAIL
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
29084738-29138111 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29117976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 157
(N157K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035468
(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: N157K
PolyPhen 2
Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000035468
Gene: ENSMUSG00000035513
AA Change: N157K
| 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
AA Change: N157K
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000071190
Gene: ENSMUSG00000035513
AA Change: N157K
| Domain | Start | End | E-Value | Type |
|---|
|
LamNT
|
33 |
285 |
2.79e-15 |
SMART |
|
EGF_Lam
|
287 |
346 |
9.19e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091153
AA Change: N157K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000088688
Gene: ENSMUSG00000035513
AA Change: N157K
| 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
AA Change: N157K
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000099937
Gene: ENSMUSG00000035513
AA Change: N157K
| 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 damaging
Transcript: ENSMUST00000177689
AA Change: N157K
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000136659
Gene: ENSMUSG00000035513
AA Change: N157K
| 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
AA Change: N157K
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000139034
Gene: ENSMUSG00000035513
AA Change: N157K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
|
| 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 |
|---|
| Adck2 |
T |
C |
6: 39,552,142 (GRCm39) |
|
probably null |
Het |
| Alpk3 |
A |
C |
7: 80,727,598 (GRCm39) |
M243L |
probably benign |
Het |
| Anapc1 |
A |
T |
2: 128,499,093 (GRCm39) |
Y860N |
possibly damaging |
Het |
| Asprv1 |
T |
C |
6: 86,605,321 (GRCm39) |
S56P |
probably damaging |
Het |
| Blm |
TCC |
TCCACC |
7: 80,162,679 (GRCm39) |
|
probably benign |
Het |
| D130043K22Rik |
G |
T |
13: 25,040,982 (GRCm39) |
E135* |
probably null |
Het |
| Dnmt3b |
A |
G |
2: 153,511,711 (GRCm39) |
H293R |
possibly damaging |
Het |
| Dsg1a |
C |
T |
18: 20,473,564 (GRCm39) |
S879L |
probably damaging |
Het |
| Fbxo24 |
C |
T |
5: 137,611,213 (GRCm39) |
A526T |
possibly damaging |
Het |
| Fign |
A |
T |
2: 63,810,891 (GRCm39) |
D126E |
probably benign |
Het |
| Gpr137 |
A |
G |
19: 6,915,800 (GRCm39) |
F377L |
probably damaging |
Het |
| Gsdma2 |
A |
G |
11: 98,540,009 (GRCm39) |
K44E |
probably damaging |
Het |
| Iigp1 |
A |
C |
18: 60,523,596 (GRCm39) |
Y238S |
probably damaging |
Het |
| Itga8 |
C |
G |
2: 12,187,495 (GRCm39) |
G728A |
probably damaging |
Het |
| Kcnip2 |
T |
C |
19: 45,782,149 (GRCm39) |
N258S |
possibly damaging |
Het |
| Lcat |
A |
G |
8: 106,669,023 (GRCm39) |
I84T |
possibly damaging |
Het |
| Mansc1 |
C |
T |
6: 134,587,631 (GRCm39) |
R182H |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,148,006 (GRCm39) |
M1685T |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,800,145 (GRCm39) |
V1407E |
probably damaging |
Het |
| Ncam2 |
T |
A |
16: 81,314,429 (GRCm39) |
N468K |
probably benign |
Het |
| Nckap1 |
A |
G |
2: 80,375,410 (GRCm39) |
S297P |
probably benign |
Het |
| Nefm |
T |
C |
14: 68,362,108 (GRCm39) |
Y52C |
probably damaging |
Het |
| Oscp1 |
T |
C |
4: 125,970,619 (GRCm39) |
V136A |
probably benign |
Het |
| Oser1 |
G |
A |
2: 163,249,004 (GRCm39) |
T66I |
probably benign |
Het |
| Palld |
A |
G |
8: 62,138,006 (GRCm39) |
L583P |
possibly damaging |
Het |
| Pex7 |
A |
G |
10: 19,760,522 (GRCm39) |
|
probably null |
Het |
| Ppp2r3d |
A |
G |
9: 101,004,204 (GRCm39) |
Y378H |
probably benign |
Het |
| Prss33 |
T |
A |
17: 24,052,885 (GRCm39) |
N263I |
possibly damaging |
Het |
| Psg25 |
A |
C |
7: 18,255,153 (GRCm39) |
C454W |
probably damaging |
Het |
| Ptpn21 |
T |
C |
12: 98,649,001 (GRCm39) |
|
probably null |
Het |
| Sh3bp2 |
A |
T |
5: 34,719,751 (GRCm39) |
S587C |
probably damaging |
Het |
| Sos2 |
A |
G |
12: 69,664,006 (GRCm39) |
F493L |
probably benign |
Het |
| St8sia4 |
T |
A |
1: 95,519,472 (GRCm39) |
T339S |
possibly damaging |
Het |
| Taok1 |
T |
C |
11: 77,470,632 (GRCm39) |
K58E |
probably benign |
Het |
| Thsd1 |
A |
G |
8: 22,749,643 (GRCm39) |
D838G |
possibly damaging |
Het |
| Tulp2 |
A |
G |
7: 45,164,914 (GRCm39) |
T65A |
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,638,466 (GRCm39) |
S205T |
probably benign |
Het |
| Vmn2r16 |
C |
T |
5: 109,488,231 (GRCm39) |
T368M |
probably benign |
Het |
| Vmn2r37 |
A |
T |
7: 9,218,991 (GRCm39) |
Y464* |
probably null |
Het |
| Wdsub1 |
A |
G |
2: 59,693,014 (GRCm39) |
M300T |
probably damaging |
Het |
| Xrcc5 |
C |
T |
1: 72,433,089 (GRCm39) |
T716I |
probably benign |
Het |
| Zfp619 |
G |
T |
7: 39,184,639 (GRCm39) |
C223F |
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 |
|
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 |
|
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 |
|
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 |
|
| Posted On |
2021-03-08 |
Incidental Mutation