Incidental Mutation 'R9512:Ntng2'
| ID |
718213 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ntng2
|
| Ensembl Gene |
ENSMUSG00000035513 |
| Gene Name |
netrin G2 |
| Synonyms |
Lmnt2, 2610016D08Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R9512 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
29084738-29138111 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29117969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 160
(T160A)
|
| 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: T160A
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000035468
Gene: ENSMUSG00000035513
AA Change: T160A
| 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 |
possibly damaging
Transcript: ENSMUST00000071201
AA Change: T160A
PolyPhen 2
Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000071190
Gene: ENSMUSG00000035513
AA Change: T160A
| 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: T160A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000088688
Gene: ENSMUSG00000035513
AA Change: T160A
| 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: T160A
PolyPhen 2
Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099937
Gene: ENSMUSG00000035513
AA Change: T160A
| 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: ENSMUST00000177689
AA Change: T160A
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000136659
Gene: ENSMUSG00000035513
AA Change: T160A
| 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: T160A
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139034
Gene: ENSMUSG00000035513
AA Change: T160A
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
C |
T |
7: 120,022,963 (GRCm39) |
A33V |
probably benign |
Het |
| Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
| Alkbh8 |
G |
T |
9: 3,367,959 (GRCm39) |
R325M |
probably damaging |
Het |
| Ap1g1 |
T |
C |
8: 110,529,687 (GRCm39) |
S36P |
probably damaging |
Het |
| Arid1b |
A |
G |
17: 5,391,864 (GRCm39) |
D1745G |
probably benign |
Het |
| Bnipl |
A |
G |
3: 95,150,369 (GRCm39) |
V292A |
probably benign |
Het |
| Brca2 |
C |
T |
5: 150,454,546 (GRCm39) |
A103V |
probably benign |
Het |
| Capn3 |
G |
A |
2: 120,326,535 (GRCm39) |
E576K |
probably damaging |
Het |
| Eif2ak4 |
G |
A |
2: 118,293,196 (GRCm39) |
G1372S |
probably damaging |
Het |
| Ephb6 |
G |
A |
6: 41,593,030 (GRCm39) |
E423K |
possibly damaging |
Het |
| Esrp1 |
A |
G |
4: 11,365,449 (GRCm39) |
V213A |
probably benign |
Het |
| Fndc3a |
T |
C |
14: 72,827,424 (GRCm39) |
E87G |
probably damaging |
Het |
| Foxn1 |
G |
T |
11: 78,262,035 (GRCm39) |
S111R |
|
Het |
| Fyb2 |
G |
A |
4: 104,853,100 (GRCm39) |
R564Q |
probably benign |
Het |
| Henmt1 |
A |
G |
3: 108,867,445 (GRCm39) |
I327V |
probably benign |
Het |
| Hsdl2 |
A |
T |
4: 59,594,464 (GRCm39) |
R117* |
probably null |
Het |
| Kif18a |
A |
G |
2: 109,171,517 (GRCm39) |
T865A |
probably benign |
Het |
| Lrrcc1 |
T |
C |
3: 14,613,301 (GRCm39) |
L463P |
possibly damaging |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Meiosin |
T |
A |
7: 18,838,860 (GRCm39) |
T156S |
unknown |
Het |
| Mroh4 |
C |
A |
15: 74,485,095 (GRCm39) |
R539L |
probably benign |
Het |
| Nln |
A |
T |
13: 104,198,274 (GRCm39) |
H179Q |
possibly damaging |
Het |
| Nrg2 |
A |
G |
18: 36,179,010 (GRCm39) |
F309L |
probably benign |
Het |
| Or1j10 |
T |
C |
2: 36,267,325 (GRCm39) |
L179P |
possibly damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or4x12-ps1 |
A |
G |
2: 89,916,721 (GRCm39) |
L28P |
possibly damaging |
Het |
| Or9s14 |
T |
C |
1: 92,535,990 (GRCm39) |
C144R |
probably benign |
Het |
| Orc6 |
T |
A |
8: 86,029,522 (GRCm39) |
I98N |
|
Het |
| Pcdha8 |
A |
C |
18: 37,126,624 (GRCm39) |
I369L |
possibly damaging |
Het |
| Plk2 |
C |
T |
13: 110,536,673 (GRCm39) |
T655M |
probably damaging |
Het |
| Pou1f1 |
A |
G |
16: 65,320,502 (GRCm39) |
T66A |
probably benign |
Het |
| Ppp1r9a |
A |
T |
6: 5,113,681 (GRCm39) |
E728D |
probably benign |
Het |
| Ppp1r9a |
T |
C |
6: 5,115,364 (GRCm39) |
V829A |
probably damaging |
Het |
| Psd |
T |
C |
19: 46,306,154 (GRCm39) |
K46R |
possibly damaging |
Het |
| Slc25a51 |
T |
C |
4: 45,399,360 (GRCm39) |
I277V |
probably benign |
Het |
| Slc9a2 |
T |
G |
1: 40,721,258 (GRCm39) |
D75E |
probably damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,917,252 (GRCm39) |
Y292C |
probably damaging |
Het |
| Snap91 |
T |
G |
9: 86,665,392 (GRCm39) |
T667P |
unknown |
Het |
| Spata16 |
G |
C |
3: 26,722,093 (GRCm39) |
E205Q |
possibly damaging |
Het |
| Stard6 |
G |
A |
18: 70,633,601 (GRCm39) |
V203I |
probably benign |
Het |
| Stra8 |
G |
A |
6: 34,909,988 (GRCm39) |
A137T |
probably benign |
Het |
| Toporsl |
A |
G |
4: 52,610,382 (GRCm39) |
T92A |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,643,160 (GRCm39) |
N4174S |
probably damaging |
Het |
| Vmn1r232 |
A |
C |
17: 21,134,416 (GRCm39) |
S61R |
probably damaging |
Het |
| Zfp263 |
T |
C |
16: 3,564,306 (GRCm39) |
S199P |
probably damaging |
Het |
| Zfp616 |
G |
A |
11: 73,975,936 (GRCm39) |
C735Y |
probably 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 |
|
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 |
|
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'- AGGTTGTCCATGTTACGCAGG -3'
(R):5'- ATGAGGGACTGGCTACCTACTG -3'
Sequencing Primer
(F):5'- AGATGGCAAAGCGGTCCCTTAC -3'
(R):5'- GACTGGCTACCTACTGGCAAAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation