Incidental Mutation 'R2434:Gipc2'
ID |
250519 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gipc2
|
Ensembl Gene |
ENSMUSG00000039131 |
Gene Name |
GIPC PDZ domain containing family, member 2 |
Synonyms |
Semcap2, 2200002N01Rik |
MMRRC Submission |
040395-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.123)
|
Stock # |
R2434 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
151799476-151871537 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 151843317 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 107
(I107L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037328
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046614]
|
AlphaFold |
Q9Z2H7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046614
AA Change: I107L
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000037328 Gene: ENSMUSG00000039131 AA Change: I107L
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
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl5 |
A |
G |
5: 31,051,357 (GRCm39) |
Q493R |
probably damaging |
Het |
Ank3 |
T |
C |
10: 69,837,948 (GRCm39) |
V785A |
probably damaging |
Het |
Capsl |
A |
T |
15: 9,462,795 (GRCm39) |
H145L |
probably damaging |
Het |
Carns1 |
A |
C |
19: 4,215,448 (GRCm39) |
C911W |
probably damaging |
Het |
Celsr2 |
A |
C |
3: 108,311,795 (GRCm39) |
F1351V |
probably damaging |
Het |
Cpne8 |
T |
C |
15: 90,393,714 (GRCm39) |
I432V |
probably benign |
Het |
Cpxm1 |
A |
T |
2: 130,236,004 (GRCm39) |
I386N |
probably damaging |
Het |
E2f5 |
T |
A |
3: 14,644,074 (GRCm39) |
D65E |
probably damaging |
Het |
Eif3a |
T |
C |
19: 60,752,488 (GRCm39) |
|
probably benign |
Het |
Fcrl2 |
A |
G |
3: 87,164,005 (GRCm39) |
Y375H |
probably damaging |
Het |
Fip1l1 |
C |
A |
5: 74,707,485 (GRCm39) |
T196K |
possibly damaging |
Het |
Fmo6 |
A |
T |
1: 162,744,439 (GRCm39) |
N484K |
probably benign |
Het |
Foxred1 |
G |
T |
9: 35,116,954 (GRCm39) |
D345E |
probably damaging |
Het |
Gbe1 |
T |
A |
16: 70,238,100 (GRCm39) |
N295K |
probably damaging |
Het |
Kcnn1 |
GTCCTCCTCCTCCTCCTCCTC |
GTCCTCCTCCTCCTCCTC |
8: 71,307,810 (GRCm39) |
|
probably benign |
Het |
Lgr5 |
T |
A |
10: 115,423,311 (GRCm39) |
I30L |
probably benign |
Het |
Nbea |
A |
T |
3: 55,554,881 (GRCm39) |
V2589E |
possibly damaging |
Het |
Ncam2 |
A |
T |
16: 81,392,113 (GRCm39) |
N699I |
probably benign |
Het |
Nlrp1b |
T |
C |
11: 71,047,552 (GRCm39) |
|
probably null |
Het |
Or11l3 |
A |
G |
11: 58,515,937 (GRCm39) |
Y312H |
possibly damaging |
Het |
Rnasel |
T |
C |
1: 153,630,396 (GRCm39) |
V304A |
probably damaging |
Het |
Serinc4 |
C |
T |
2: 121,286,186 (GRCm39) |
R134H |
probably benign |
Het |
Sim1 |
T |
A |
10: 50,784,054 (GRCm39) |
Y103N |
probably damaging |
Het |
Slc47a1 |
A |
T |
11: 61,258,548 (GRCm39) |
|
probably null |
Het |
Slc6a6 |
T |
A |
6: 91,712,193 (GRCm39) |
S241T |
probably benign |
Het |
Son |
G |
T |
16: 91,451,575 (GRCm39) |
K107N |
probably damaging |
Het |
St3gal6 |
T |
C |
16: 58,291,015 (GRCm39) |
T329A |
probably damaging |
Het |
Stab2 |
G |
A |
10: 86,805,183 (GRCm39) |
P265L |
possibly damaging |
Het |
Tmem199 |
G |
A |
11: 78,400,570 (GRCm39) |
T119I |
probably damaging |
Het |
Ttc14 |
A |
G |
3: 33,855,227 (GRCm39) |
D125G |
probably benign |
Het |
Vmn1r205 |
T |
A |
13: 22,776,524 (GRCm39) |
M193L |
probably benign |
Het |
Vmn2r-ps158 |
A |
G |
7: 42,696,881 (GRCm39) |
Y646C |
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 |
|
R2365:Gipc2
|
UTSW |
3 |
151,833,831 (GRCm39) |
missense |
possibly damaging |
0.89 |
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'- TGTGAACCCCATCTGAGCTG -3'
(R):5'- GGGACTTTTACATTGTAAATTGAGGCC -3'
Sequencing Primer
(F):5'- TAGCTCTCCCCGAAGAGAATTTG -3'
(R):5'- TTCATCAGTGGTCAGGGT -3'
|
Posted On |
2014-11-12 |