Incidental Mutation 'R6373:Sntg2'
| ID |
513637 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sntg2
|
| Ensembl Gene |
ENSMUSG00000020672 |
| Gene Name |
syntrophin, gamma 2 |
| Synonyms |
2210008K22Rik |
| MMRRC Submission |
044523-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R6373 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
30224481-30423374 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 30308040 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 215
(R215H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021004]
[ENSMUST00000133324]
[ENSMUST00000142046]
[ENSMUST00000149710]
|
| AlphaFold |
Q925E0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021004
AA Change: R215H
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000021004
Gene: ENSMUSG00000020672
AA Change: R215H
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
82 |
156 |
1.83e-17 |
SMART |
|
low complexity region
|
159 |
183 |
N/A |
INTRINSIC |
|
PH
|
297 |
423 |
7.66e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133324
|
| SMART Domains |
Protein: ENSMUSP00000114245
Gene: ENSMUSG00000020672
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
13 |
70 |
9e-24 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142046
|
| SMART Domains |
Protein: ENSMUSP00000115942
Gene: ENSMUSG00000020672
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
13 |
89 |
1e-23 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149710
|
| SMART Domains |
Protein: ENSMUSP00000123332
Gene: ENSMUSG00000020672
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
82 |
156 |
1.83e-17 |
SMART |
|
low complexity region
|
159 |
183 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0786 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
95% (37/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not been described. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
T |
C |
8: 10,038,240 (GRCm39) |
L279P |
probably damaging |
Het |
| Aldh16a1 |
C |
G |
7: 44,795,695 (GRCm39) |
V373L |
probably benign |
Het |
| Btn2a2 |
T |
C |
13: 23,665,999 (GRCm39) |
K278E |
probably benign |
Het |
| Carns1 |
G |
T |
19: 4,216,515 (GRCm39) |
Q556K |
probably benign |
Het |
| Chd1 |
A |
T |
17: 15,958,898 (GRCm39) |
E650V |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,203,118 (GRCm39) |
S1195P |
probably damaging |
Het |
| Deup1 |
T |
C |
9: 15,472,638 (GRCm39) |
H464R |
probably damaging |
Het |
| Eva1a |
T |
C |
6: 82,068,847 (GRCm39) |
L58S |
probably damaging |
Het |
| Fign |
A |
C |
2: 63,809,989 (GRCm39) |
M427R |
probably benign |
Het |
| Gm6309 |
A |
T |
5: 146,107,085 (GRCm39) |
I87N |
probably damaging |
Het |
| H2ac7 |
A |
G |
13: 23,759,027 (GRCm39) |
K128R |
probably benign |
Het |
| Helz |
A |
G |
11: 107,486,010 (GRCm39) |
T140A |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,875,260 (GRCm39) |
E1745K |
probably damaging |
Het |
| Kif16b |
A |
T |
2: 142,541,618 (GRCm39) |
H1227Q |
possibly damaging |
Het |
| Mab21l1 |
A |
T |
3: 55,690,505 (GRCm39) |
I31F |
possibly damaging |
Het |
| Mex3c |
T |
C |
18: 73,723,065 (GRCm39) |
M386T |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,022,994 (GRCm39) |
I1644F |
possibly damaging |
Het |
| Nav2 |
C |
T |
7: 49,102,923 (GRCm39) |
P513S |
probably damaging |
Het |
| Ncoa3 |
C |
T |
2: 165,901,267 (GRCm39) |
S953F |
possibly damaging |
Het |
| Nmt2 |
A |
G |
2: 3,325,988 (GRCm39) |
T462A |
probably benign |
Het |
| Nrxn2 |
T |
C |
19: 6,559,860 (GRCm39) |
I163T |
probably damaging |
Het |
| Nrxn3 |
G |
C |
12: 89,943,237 (GRCm39) |
G122R |
probably damaging |
Het |
| Or1e26 |
A |
G |
11: 73,479,724 (GRCm39) |
V280A |
probably benign |
Het |
| Or5d20-ps1 |
T |
C |
2: 87,932,189 (GRCm39) |
I47M |
possibly damaging |
Het |
| Parg |
T |
G |
14: 31,931,454 (GRCm39) |
|
probably null |
Het |
| Pcdhb7 |
T |
A |
18: 37,475,264 (GRCm39) |
C133* |
probably null |
Het |
| Ppihl |
A |
G |
5: 44,070,893 (GRCm39) |
T127A |
probably damaging |
Het |
| Rigi |
A |
G |
4: 40,216,487 (GRCm39) |
Y504H |
possibly damaging |
Het |
| Rpe |
T |
C |
1: 66,755,139 (GRCm39) |
F174L |
probably benign |
Het |
| Rxrb |
A |
G |
17: 34,252,533 (GRCm39) |
N40S |
probably benign |
Het |
| Ryr3 |
C |
A |
2: 112,486,889 (GRCm39) |
G3840W |
probably damaging |
Het |
| Smurf2 |
A |
G |
11: 106,724,595 (GRCm39) |
L529P |
probably damaging |
Het |
| Spata20 |
A |
G |
11: 94,374,226 (GRCm39) |
V348A |
probably benign |
Het |
| Spink5 |
A |
G |
18: 44,123,739 (GRCm39) |
E342G |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Syce1l |
T |
A |
8: 114,376,143 (GRCm39) |
M31K |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,618,960 (GRCm39) |
V14394I |
probably damaging |
Het |
| Twnk |
G |
A |
19: 44,997,820 (GRCm39) |
V450M |
probably damaging |
Het |
| Vangl1 |
T |
C |
3: 102,065,764 (GRCm39) |
K407R |
probably benign |
Het |
| Vmn1r19 |
T |
C |
6: 57,382,317 (GRCm39) |
I290T |
unknown |
Het |
|
| Other mutations in Sntg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00231:Sntg2
|
APN |
12 |
30,326,720 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL00914:Sntg2
|
APN |
12 |
30,307,956 (GRCm39) |
intron |
probably benign |
|
|
IGL00950:Sntg2
|
APN |
12 |
30,362,680 (GRCm39) |
splice site |
probably benign |
|
|
IGL01106:Sntg2
|
APN |
12 |
30,307,987 (GRCm39) |
nonsense |
probably null |
|
|
IGL01732:Sntg2
|
APN |
12 |
30,362,648 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01987:Sntg2
|
APN |
12 |
30,362,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02138:Sntg2
|
APN |
12 |
30,357,230 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02325:Sntg2
|
APN |
12 |
30,245,542 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02619:Sntg2
|
APN |
12 |
30,317,025 (GRCm39) |
splice site |
probably null |
|
|
IGL02797:Sntg2
|
APN |
12 |
30,276,891 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03176:Sntg2
|
APN |
12 |
30,317,022 (GRCm39) |
splice site |
probably benign |
|
|
PIT4445001:Sntg2
|
UTSW |
12 |
30,362,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0126:Sntg2
|
UTSW |
12 |
30,251,260 (GRCm39) |
splice site |
probably benign |
|
|
R0309:Sntg2
|
UTSW |
12 |
30,276,772 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0614:Sntg2
|
UTSW |
12 |
30,307,977 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1267:Sntg2
|
UTSW |
12 |
30,295,127 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1546:Sntg2
|
UTSW |
12 |
30,338,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1696:Sntg2
|
UTSW |
12 |
30,317,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1708:Sntg2
|
UTSW |
12 |
30,423,179 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1867:Sntg2
|
UTSW |
12 |
30,286,650 (GRCm39) |
missense |
probably benign |
|
|
R2256:Sntg2
|
UTSW |
12 |
30,286,687 (GRCm39) |
nonsense |
probably null |
|
|
R2895:Sntg2
|
UTSW |
12 |
30,276,845 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3401:Sntg2
|
UTSW |
12 |
30,338,171 (GRCm39) |
splice site |
probably benign |
|
|
R3522:Sntg2
|
UTSW |
12 |
30,362,566 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4771:Sntg2
|
UTSW |
12 |
30,326,658 (GRCm39) |
splice site |
probably null |
|
|
R4814:Sntg2
|
UTSW |
12 |
30,423,267 (GRCm39) |
unclassified |
probably benign |
|
|
R5554:Sntg2
|
UTSW |
12 |
30,308,040 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6056:Sntg2
|
UTSW |
12 |
30,362,560 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6328:Sntg2
|
UTSW |
12 |
30,308,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7314:Sntg2
|
UTSW |
12 |
30,317,107 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7494:Sntg2
|
UTSW |
12 |
30,279,633 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7571:Sntg2
|
UTSW |
12 |
30,225,201 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7749:Sntg2
|
UTSW |
12 |
30,276,910 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9375:Sntg2
|
UTSW |
12 |
30,293,343 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9616:Sntg2
|
UTSW |
12 |
30,326,732 (GRCm39) |
missense |
probably benign |
0.30 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGCCAACAGTGCCATTAG -3'
(R):5'- GCTTTCTCTCTGAATCCCTAAGAAG -3'
Sequencing Primer
(F):5'- GTGCCATTAGACACTGAAGCAGC -3'
(R):5'- ATCTTGAAGGTTTTCATCAGTGGAAG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation