Incidental Mutation 'R2365:Gipc2'
| ID |
246285 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gipc2
|
| Ensembl Gene |
ENSMUSG00000039131 |
| Gene Name |
GIPC PDZ domain containing family, member 2 |
| Synonyms |
Semcap2, 2200002N01Rik |
| MMRRC Submission |
040346-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R2365 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
151799476-151871537 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 151833831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 150
(I150T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046614]
|
| AlphaFold |
Q9Z2H7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046614
AA Change: I150T
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000037328
Gene: ENSMUSG00000039131
AA Change: I150T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
18 |
N/A |
INTRINSIC |
|
PDZ
|
125 |
199 |
7.04e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133102
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197813
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200501
|
| Meta Mutation Damage Score |
0.1405 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.9%
|
| Validation Efficiency |
94% (34/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp13a5 |
T |
A |
16: 29,070,008 (GRCm39) |
K959N |
probably benign |
Het |
| C4b |
G |
A |
17: 34,955,032 (GRCm39) |
|
probably benign |
Het |
| Cdhr2 |
T |
G |
13: 54,865,901 (GRCm39) |
S268R |
probably benign |
Het |
| Erc1 |
A |
G |
6: 119,552,656 (GRCm39) |
L1094P |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,034,568 (GRCm39) |
H2740R |
probably benign |
Het |
| Galnt13 |
A |
G |
2: 54,744,709 (GRCm39) |
Y136C |
possibly damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm21957 |
T |
C |
7: 124,818,629 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5591 |
T |
A |
7: 38,218,825 (GRCm39) |
R683W |
probably damaging |
Het |
| Gm826 |
A |
G |
2: 160,169,130 (GRCm39) |
S60P |
unknown |
Het |
| Hsd17b7 |
T |
C |
1: 169,792,009 (GRCm39) |
D133G |
probably damaging |
Het |
| Kera |
A |
G |
10: 97,444,805 (GRCm39) |
T55A |
probably benign |
Het |
| Mff |
T |
C |
1: 82,713,192 (GRCm39) |
V129A |
possibly damaging |
Het |
| Myo7b |
A |
G |
18: 32,147,384 (GRCm39) |
L53P |
probably damaging |
Het |
| Neo1 |
A |
G |
9: 58,863,286 (GRCm39) |
V427A |
probably benign |
Het |
| Or10ak7 |
C |
T |
4: 118,791,230 (GRCm39) |
E272K |
probably benign |
Het |
| Or52e19 |
A |
T |
7: 102,959,380 (GRCm39) |
I151L |
probably benign |
Het |
| Pfkfb3 |
C |
T |
2: 11,498,713 (GRCm39) |
|
probably null |
Het |
| Pom121l2 |
A |
G |
13: 22,167,954 (GRCm39) |
T742A |
probably benign |
Het |
| Pon1 |
A |
G |
6: 5,171,746 (GRCm39) |
S302P |
probably damaging |
Het |
| Rhox3f |
G |
T |
X: 36,763,672 (GRCm39) |
E140* |
probably null |
Het |
| Sall3 |
G |
C |
18: 81,015,007 (GRCm39) |
P974A |
probably benign |
Het |
| Slc1a2 |
T |
A |
2: 102,578,798 (GRCm39) |
|
probably null |
Het |
| Slc22a6 |
A |
G |
19: 8,596,761 (GRCm39) |
T180A |
probably benign |
Het |
| Slc40a1 |
T |
C |
1: 45,963,873 (GRCm39) |
|
probably null |
Het |
| Slc6a5 |
T |
C |
7: 49,596,284 (GRCm39) |
S585P |
possibly damaging |
Het |
| Tbpl1 |
A |
G |
10: 22,581,785 (GRCm39) |
V164A |
possibly damaging |
Het |
| Tmem98 |
A |
T |
11: 80,706,511 (GRCm39) |
I95F |
probably damaging |
Het |
| Ush2a |
C |
A |
1: 188,111,188 (GRCm39) |
P571T |
possibly damaging |
Het |
| Vars1 |
A |
G |
17: 35,234,428 (GRCm39) |
N1125D |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,813,894 (GRCm39) |
|
probably benign |
Het |
| Zbtb18 |
A |
T |
1: 177,275,723 (GRCm39) |
E361V |
probably benign |
Het |
| Zc3hav1 |
A |
G |
6: 38,317,168 (GRCm39) |
F144S |
probably damaging |
Het |
|
| Other mutations in Gipc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Gipc2
|
APN |
3 |
151,843,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01065:Gipc2
|
APN |
3 |
151,808,294 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL01524:Gipc2
|
APN |
3 |
151,843,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01690:Gipc2
|
APN |
3 |
151,833,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01697:Gipc2
|
APN |
3 |
151,843,245 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02223:Gipc2
|
APN |
3 |
151,833,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0400:Gipc2
|
UTSW |
3 |
151,871,305 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0490:Gipc2
|
UTSW |
3 |
151,808,291 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1119:Gipc2
|
UTSW |
3 |
151,799,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1168:Gipc2
|
UTSW |
3 |
151,813,634 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1663:Gipc2
|
UTSW |
3 |
151,799,801 (GRCm39) |
missense |
probably benign |
|
|
R2434:Gipc2
|
UTSW |
3 |
151,843,317 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3816:Gipc2
|
UTSW |
3 |
151,871,481 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3835:Gipc2
|
UTSW |
3 |
151,833,823 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5069:Gipc2
|
UTSW |
3 |
151,799,885 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5240:Gipc2
|
UTSW |
3 |
151,808,299 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5625:Gipc2
|
UTSW |
3 |
151,871,541 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6646:Gipc2
|
UTSW |
3 |
151,799,838 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6956:Gipc2
|
UTSW |
3 |
151,799,885 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7258:Gipc2
|
UTSW |
3 |
151,871,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7259:Gipc2
|
UTSW |
3 |
151,833,693 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8035:Gipc2
|
UTSW |
3 |
151,799,866 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9440:Gipc2
|
UTSW |
3 |
151,833,706 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCCTCTTAGATAAACAAGGGG -3'
(R):5'- GCTAGCTGAATTCTGAATGGAAGG -3'
Sequencing Primer
(F):5'- AAAATGGTTTCTCTTTGTCTGTCTG -3'
(R):5'- CTGAATTCTGAATGGAAGGAAGATG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation