Incidental Mutation 'R1349:Gpatch2l'
ID |
156616 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpatch2l
|
Ensembl Gene |
ENSMUSG00000021254 |
Gene Name |
G patch domain containing 2 like |
Synonyms |
1700020O03Rik |
MMRRC Submission |
039414-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1349 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
86288632-86338558 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 86307483 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 287
(L287P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152284
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071106]
[ENSMUST00000221368]
|
AlphaFold |
Q6PE65 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071106
AA Change: L287P
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000065858 Gene: ENSMUSG00000021254 AA Change: L287P
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
48 |
N/A |
INTRINSIC |
low complexity region
|
127 |
135 |
N/A |
INTRINSIC |
low complexity region
|
219 |
232 |
N/A |
INTRINSIC |
low complexity region
|
413 |
427 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220646
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220810
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000221368
AA Change: L287P
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222299
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.8%
|
Validation Efficiency |
98% (46/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810004N23Rik |
G |
A |
8: 125,587,992 (GRCm39) |
T36I |
possibly damaging |
Het |
Adcy2 |
T |
A |
13: 68,816,652 (GRCm39) |
N778I |
probably damaging |
Het |
Ak5 |
G |
T |
3: 152,239,071 (GRCm39) |
D301E |
probably damaging |
Het |
Akap13 |
G |
A |
7: 75,259,340 (GRCm39) |
G655S |
possibly damaging |
Het |
Ankrd28 |
A |
T |
14: 31,467,218 (GRCm39) |
M248K |
probably benign |
Het |
Atf7ip2 |
G |
A |
16: 10,052,195 (GRCm39) |
V225I |
probably damaging |
Het |
Ccdc157 |
A |
T |
11: 4,099,056 (GRCm39) |
I48N |
probably benign |
Het |
Cd209d |
C |
A |
8: 3,928,515 (GRCm39) |
|
probably benign |
Het |
Cecr2 |
G |
A |
6: 120,734,564 (GRCm39) |
G613E |
probably damaging |
Het |
Clspn |
C |
T |
4: 126,457,770 (GRCm39) |
A98V |
probably benign |
Het |
Cntnap5b |
G |
A |
1: 100,091,813 (GRCm39) |
D499N |
probably benign |
Het |
Cox7a2 |
G |
A |
9: 79,665,819 (GRCm39) |
R21* |
probably null |
Het |
Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
Dbpht2 |
C |
CNNNNNNNNNNNNNNNNNN |
12: 74,345,836 (GRCm39) |
|
noncoding transcript |
Het |
Dlg1 |
T |
C |
16: 31,631,638 (GRCm39) |
I208T |
probably damaging |
Het |
Dmxl1 |
A |
T |
18: 50,021,920 (GRCm39) |
N1612Y |
probably damaging |
Het |
Epha3 |
A |
G |
16: 63,431,416 (GRCm39) |
I495T |
possibly damaging |
Het |
Frem1 |
T |
C |
4: 82,840,542 (GRCm39) |
|
probably benign |
Het |
Glipr1 |
A |
G |
10: 111,829,437 (GRCm39) |
V108A |
probably benign |
Het |
Hp |
T |
G |
8: 110,301,938 (GRCm39) |
K337Q |
probably benign |
Het |
Htr1a |
T |
A |
13: 105,581,874 (GRCm39) |
C371* |
probably null |
Het |
Leo1 |
T |
C |
9: 75,356,751 (GRCm39) |
V377A |
possibly damaging |
Het |
Lsg1 |
A |
G |
16: 30,383,472 (GRCm39) |
F583L |
possibly damaging |
Het |
Map4k4 |
C |
A |
1: 40,060,319 (GRCm39) |
P1103Q |
probably damaging |
Het |
Mybph |
T |
C |
1: 134,121,353 (GRCm39) |
S38P |
probably benign |
Het |
Myo1e |
T |
G |
9: 70,194,351 (GRCm39) |
|
probably benign |
Het |
Nefh |
T |
TNNNNNNNNNNNNNNNNNN |
11: 4,891,010 (GRCm39) |
|
probably benign |
Het |
Oca2 |
T |
A |
7: 56,185,716 (GRCm39) |
M814K |
probably benign |
Het |
Odad3 |
C |
T |
9: 21,904,916 (GRCm39) |
R290H |
probably damaging |
Het |
Pkd1 |
T |
C |
17: 24,794,240 (GRCm39) |
C1976R |
probably damaging |
Het |
Pogz |
T |
A |
3: 94,768,199 (GRCm39) |
L126M |
probably damaging |
Het |
Rec8 |
T |
C |
14: 55,856,431 (GRCm39) |
Y68H |
probably damaging |
Het |
Ryr3 |
T |
A |
2: 112,664,546 (GRCm39) |
S1582C |
probably damaging |
Het |
Sh3pxd2a |
A |
T |
19: 47,256,160 (GRCm39) |
W853R |
probably damaging |
Het |
Slc6a7 |
C |
T |
18: 61,133,615 (GRCm39) |
G527D |
probably benign |
Het |
Spopfm1 |
A |
G |
3: 94,173,435 (GRCm39) |
T148A |
possibly damaging |
Het |
Tgm1 |
A |
G |
14: 55,948,658 (GRCm39) |
|
probably benign |
Het |
Tnxb |
T |
C |
17: 34,929,267 (GRCm39) |
V2770A |
possibly damaging |
Het |
Togaram1 |
T |
A |
12: 65,057,919 (GRCm39) |
M1502K |
probably damaging |
Het |
Vmn1r11 |
G |
A |
6: 57,114,963 (GRCm39) |
C209Y |
probably benign |
Het |
Vmn2r102 |
A |
T |
17: 19,880,887 (GRCm39) |
|
probably benign |
Het |
Vmn2r12 |
T |
C |
5: 109,234,452 (GRCm39) |
M587V |
probably benign |
Het |
Vmn2r63 |
A |
G |
7: 42,578,642 (GRCm39) |
F84L |
possibly damaging |
Het |
Wdr35 |
A |
T |
12: 9,069,870 (GRCm39) |
|
probably benign |
Het |
Wdr73 |
C |
A |
7: 80,543,000 (GRCm39) |
V176L |
probably damaging |
Het |
|
Other mutations in Gpatch2l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02335:Gpatch2l
|
APN |
12 |
86,303,711 (GRCm39) |
splice site |
probably benign |
|
IGL02458:Gpatch2l
|
APN |
12 |
86,335,735 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL03131:Gpatch2l
|
APN |
12 |
86,328,285 (GRCm39) |
missense |
probably benign |
0.00 |
R0546:Gpatch2l
|
UTSW |
12 |
86,335,622 (GRCm39) |
makesense |
probably null |
|
R1368:Gpatch2l
|
UTSW |
12 |
86,307,439 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1600:Gpatch2l
|
UTSW |
12 |
86,303,708 (GRCm39) |
critical splice donor site |
probably null |
|
R1701:Gpatch2l
|
UTSW |
12 |
86,335,726 (GRCm39) |
missense |
probably benign |
0.00 |
R2656:Gpatch2l
|
UTSW |
12 |
86,335,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R3149:Gpatch2l
|
UTSW |
12 |
86,291,089 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3150:Gpatch2l
|
UTSW |
12 |
86,291,089 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3176:Gpatch2l
|
UTSW |
12 |
86,291,089 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3177:Gpatch2l
|
UTSW |
12 |
86,291,089 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3276:Gpatch2l
|
UTSW |
12 |
86,291,089 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3277:Gpatch2l
|
UTSW |
12 |
86,291,089 (GRCm39) |
missense |
possibly damaging |
0.76 |
R4342:Gpatch2l
|
UTSW |
12 |
86,307,453 (GRCm39) |
missense |
probably benign |
0.00 |
R5161:Gpatch2l
|
UTSW |
12 |
86,313,950 (GRCm39) |
missense |
probably benign |
0.17 |
R5712:Gpatch2l
|
UTSW |
12 |
86,291,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R6343:Gpatch2l
|
UTSW |
12 |
86,307,379 (GRCm39) |
nonsense |
probably null |
|
R6899:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R6910:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R6911:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R6912:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R6917:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R6930:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R6994:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R6995:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R6996:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R6998:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R6999:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R7000:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R7001:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R7002:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R7003:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R7010:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R7011:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R7203:Gpatch2l
|
UTSW |
12 |
86,335,711 (GRCm39) |
missense |
probably benign |
0.40 |
R7239:Gpatch2l
|
UTSW |
12 |
86,307,349 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7327:Gpatch2l
|
UTSW |
12 |
86,303,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R7419:Gpatch2l
|
UTSW |
12 |
86,312,025 (GRCm39) |
critical splice donor site |
probably null |
|
R8231:Gpatch2l
|
UTSW |
12 |
86,290,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R8876:Gpatch2l
|
UTSW |
12 |
86,308,405 (GRCm39) |
missense |
probably damaging |
0.99 |
R9189:Gpatch2l
|
UTSW |
12 |
86,291,152 (GRCm39) |
missense |
probably benign |
0.13 |
R9284:Gpatch2l
|
UTSW |
12 |
86,290,883 (GRCm39) |
missense |
probably benign |
0.01 |
R9432:Gpatch2l
|
UTSW |
12 |
86,307,408 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGGCGTTGAGAAACTCTCCTGGC -3'
(R):5'- GCTTTGAGACTCACCCTTGAATCCC -3'
Sequencing Primer
(F):5'- GAGAAACTCTCCTGGCATTTG -3'
(R):5'- TTGAATCCCCTAGAACCCTGAG -3'
|
Posted On |
2014-02-11 |