Incidental Mutation 'R6907:Ntng2'
| ID |
538807 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ntng2
|
| Ensembl Gene |
ENSMUSG00000035513 |
| Gene Name |
netrin G2 |
| Synonyms |
Lmnt2, 2610016D08Rik |
| MMRRC Submission |
044999-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.171)
|
| Stock # |
R6907 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
29084738-29138111 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29118218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 77
(C77R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139034
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048455]
[ENSMUST00000071201]
[ENSMUST00000091153]
[ENSMUST00000102873]
[ENSMUST00000177689]
[ENSMUST00000183583]
|
| AlphaFold |
Q8R4F1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048455
AA Change: C77R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035468
Gene: ENSMUSG00000035513
AA Change: C77R
| 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: C77R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071190
Gene: ENSMUSG00000035513
AA Change: C77R
| 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: C77R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088688
Gene: ENSMUSG00000035513
AA Change: C77R
| 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 damaging
Transcript: ENSMUST00000102873
AA Change: C77R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099937
Gene: ENSMUSG00000035513
AA Change: C77R
| 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: C77R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136659
Gene: ENSMUSG00000035513
AA Change: C77R
| 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: ENSMUST00000183583
AA Change: C77R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139034
Gene: ENSMUSG00000035513
AA Change: C77R
| 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 |
|
| Meta Mutation Damage Score |
0.9422 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
97% (38/39) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat1 |
T |
C |
8: 112,698,793 (GRCm39) |
I344V |
probably benign |
Het |
| Bmper |
A |
T |
9: 23,310,868 (GRCm39) |
Q434L |
probably damaging |
Het |
| Cabyr |
A |
G |
18: 12,883,969 (GRCm39) |
Y152C |
probably benign |
Het |
| Cactin |
G |
A |
10: 81,159,278 (GRCm39) |
|
probably null |
Het |
| Cadps2 |
T |
C |
6: 23,599,505 (GRCm39) |
D238G |
probably damaging |
Het |
| Card10 |
T |
C |
15: 78,671,671 (GRCm39) |
T598A |
possibly damaging |
Het |
| Ctr9 |
C |
T |
7: 110,629,449 (GRCm39) |
P25L |
probably damaging |
Het |
| Entpd5 |
T |
C |
12: 84,424,127 (GRCm39) |
T409A |
probably benign |
Het |
| Exd1 |
A |
G |
2: 119,363,957 (GRCm39) |
V137A |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,784,443 (GRCm39) |
G168R |
probably damaging |
Het |
| Ift88 |
A |
G |
14: 57,683,067 (GRCm39) |
N248S |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,939,888 (GRCm39) |
Y1561N |
probably damaging |
Het |
| Mef2c |
A |
G |
13: 83,802,730 (GRCm39) |
D227G |
probably benign |
Het |
| Myh2 |
C |
T |
11: 67,084,567 (GRCm39) |
T1702M |
probably damaging |
Het |
| Myo1e |
T |
A |
9: 70,234,437 (GRCm39) |
N263K |
probably benign |
Het |
| Nfe2l1 |
A |
G |
11: 96,710,636 (GRCm39) |
L373P |
probably damaging |
Het |
| Nob1 |
C |
T |
8: 108,142,860 (GRCm39) |
V274M |
possibly damaging |
Het |
| Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
| Or10ad1c |
T |
C |
15: 98,085,649 (GRCm39) |
N10D |
probably damaging |
Het |
| Or5p55 |
T |
C |
7: 107,567,459 (GRCm39) |
L285P |
probably damaging |
Het |
| Pcdh7 |
T |
A |
5: 57,876,471 (GRCm39) |
W9R |
possibly damaging |
Het |
| Pcdha1 |
A |
G |
18: 37,064,124 (GRCm39) |
T263A |
probably benign |
Het |
| Per3 |
C |
T |
4: 151,128,015 (GRCm39) |
|
probably null |
Het |
| Pgbd5 |
A |
G |
8: 125,107,021 (GRCm39) |
F265L |
probably damaging |
Het |
| Ppm1k |
T |
G |
6: 57,487,755 (GRCm39) |
E356A |
probably benign |
Het |
| Ptgfr |
G |
T |
3: 151,540,938 (GRCm39) |
T190K |
possibly damaging |
Het |
| Sec24a |
A |
G |
11: 51,603,103 (GRCm39) |
Y782H |
probably damaging |
Het |
| Setd1b |
T |
C |
5: 123,301,295 (GRCm39) |
|
probably benign |
Het |
| Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
| Slc19a2 |
C |
T |
1: 164,090,323 (GRCm39) |
T253I |
possibly damaging |
Het |
| Tcf4 |
C |
T |
18: 69,785,484 (GRCm39) |
T207M |
probably damaging |
Het |
| Thada |
T |
C |
17: 84,700,897 (GRCm39) |
N1203S |
probably damaging |
Het |
| Tln2 |
A |
T |
9: 67,304,917 (GRCm39) |
S5T |
probably damaging |
Het |
| Traf4 |
C |
T |
11: 78,051,268 (GRCm39) |
R296Q |
probably benign |
Het |
| Ttbk2 |
A |
G |
2: 120,655,751 (GRCm39) |
S38P |
probably benign |
Het |
| Vrk1 |
G |
T |
12: 106,041,291 (GRCm39) |
Q395H |
possibly damaging |
Het |
| Vwa3a |
G |
T |
7: 120,391,804 (GRCm39) |
|
probably benign |
Het |
| Wdsub1 |
C |
T |
2: 59,692,028 (GRCm39) |
V335I |
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 |
|
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'- ACGTCGTCTGTCAACTCCAC -3'
(R):5'- TGGGCTTATAGAACACGCAGTAG -3'
Sequencing Primer
(F):5'- CACGCTCTTGTTCCATGAGAGG -3'
(R):5'- GTGCAGAGTACCTAAGACCC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation