Incidental Mutation 'R7010:Gpatch2l'
ID |
544974 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpatch2l
|
Ensembl Gene |
ENSMUSG00000021254 |
Gene Name |
G patch domain containing 2 like |
Synonyms |
1700020O03Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7010 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
86288632-86338558 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 86290958 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 47
(R47H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152284
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071106]
[ENSMUST00000221368]
|
AlphaFold |
Q6PE65 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071106
AA Change: R47H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000065858 Gene: ENSMUSG00000021254 AA Change: R47H
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 |
probably damaging
Transcript: ENSMUST00000221368
AA Change: R47H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.1427 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AL592187.3 |
A |
T |
15: 77,486,797 (GRCm39) |
Y58F |
probably benign |
Het |
Ano10 |
T |
C |
9: 122,082,190 (GRCm39) |
T494A |
probably damaging |
Het |
Asah2 |
A |
T |
19: 32,031,954 (GRCm39) |
F72I |
probably benign |
Het |
Atat1 |
T |
C |
17: 36,219,522 (GRCm39) |
D114G |
probably damaging |
Het |
Atp6v1e2 |
C |
T |
17: 87,251,773 (GRCm39) |
M208I |
probably benign |
Het |
Bicd1 |
A |
G |
6: 149,396,113 (GRCm39) |
Y161C |
probably damaging |
Het |
Camk2g |
T |
C |
14: 20,791,512 (GRCm39) |
S410G |
probably benign |
Het |
Car2 |
C |
T |
3: 14,965,113 (GRCm39) |
P249L |
possibly damaging |
Het |
Cdh23 |
T |
G |
10: 60,366,770 (GRCm39) |
I237L |
probably benign |
Het |
Dlat |
T |
A |
9: 50,569,274 (GRCm39) |
K176N |
probably damaging |
Het |
Dnajc12 |
T |
A |
10: 63,233,059 (GRCm39) |
C67S |
probably benign |
Het |
Fat1 |
G |
T |
8: 45,406,386 (GRCm39) |
E1046* |
probably null |
Het |
Gmip |
G |
A |
8: 70,264,050 (GRCm39) |
A137T |
probably damaging |
Het |
Grk6 |
A |
G |
13: 55,598,113 (GRCm39) |
I62V |
possibly damaging |
Het |
Hook1 |
G |
T |
4: 95,903,048 (GRCm39) |
L512F |
probably damaging |
Het |
Ighe |
T |
C |
12: 113,236,761 (GRCm39) |
T36A |
|
Het |
Il17rc |
A |
G |
6: 113,456,249 (GRCm39) |
N338S |
possibly damaging |
Het |
Itgb6 |
T |
C |
2: 60,480,322 (GRCm39) |
Y338C |
probably damaging |
Het |
Kcnd2 |
A |
G |
6: 21,216,707 (GRCm39) |
Y137C |
probably damaging |
Het |
L3mbtl3 |
T |
A |
10: 26,158,759 (GRCm39) |
|
probably null |
Het |
Lcn3 |
T |
C |
2: 25,656,068 (GRCm39) |
F41S |
probably damaging |
Het |
Map3k8 |
T |
C |
18: 4,334,060 (GRCm39) |
H344R |
probably damaging |
Het |
Marf1 |
A |
T |
16: 13,954,865 (GRCm39) |
I884N |
probably damaging |
Het |
Nalcn |
G |
A |
14: 123,530,877 (GRCm39) |
T1387I |
probably damaging |
Het |
Nrros |
T |
C |
16: 31,962,398 (GRCm39) |
T540A |
probably damaging |
Het |
Or5p63 |
A |
T |
7: 107,811,349 (GRCm39) |
I129N |
probably damaging |
Het |
Pank2 |
T |
C |
2: 131,122,293 (GRCm39) |
Y273H |
probably benign |
Het |
Pgrmc2 |
A |
G |
3: 41,037,068 (GRCm39) |
V121A |
probably damaging |
Het |
Phldb2 |
C |
T |
16: 45,571,868 (GRCm39) |
V1175M |
probably damaging |
Het |
Prss3b |
A |
C |
6: 41,009,247 (GRCm39) |
S196A |
probably benign |
Het |
Ranbp2 |
A |
G |
10: 58,290,393 (GRCm39) |
|
probably null |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Syt7 |
A |
G |
19: 10,395,354 (GRCm39) |
T55A |
probably benign |
Het |
Tfcp2l1 |
T |
C |
1: 118,581,457 (GRCm39) |
S137P |
probably damaging |
Het |
Tom1 |
T |
A |
8: 75,778,603 (GRCm39) |
V140D |
probably damaging |
Het |
Ttc23l |
T |
G |
15: 10,515,224 (GRCm39) |
I385L |
probably damaging |
Het |
Vmn1r122 |
A |
G |
7: 20,867,896 (GRCm39) |
V53A |
probably damaging |
Het |
Vmn2r1 |
C |
T |
3: 64,012,146 (GRCm39) |
T669I |
probably benign |
Het |
Vmn2r86 |
A |
G |
10: 130,291,726 (GRCm39) |
L13P |
probably benign |
Het |
Zfp958 |
T |
C |
8: 4,678,377 (GRCm39) |
I134T |
probably benign |
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 |
|
R1349:Gpatch2l
|
UTSW |
12 |
86,307,483 (GRCm39) |
missense |
possibly damaging |
0.94 |
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 |
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'- AGCCGGTCTTCTCAAGCATC -3'
(R):5'- GAATGTTGCTTACCCCTAATGATGG -3'
Sequencing Primer
(F):5'- TCTCAAGCATCATTCTTCATCAAG -3'
(R):5'- TTACCCCTAATGATGGCACTGAGAG -3'
|
Posted On |
2019-05-13 |