Incidental Mutation 'IGL02236:Glipr1l2'
| ID |
285892 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Glipr1l2
|
| Ensembl Gene |
ENSMUSG00000020214 |
| Gene Name |
GLI pathogenesis-related 1 like 2 |
| Synonyms |
4921508O11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
IGL02236
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
111919259-111944003 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111928534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 143
(Y143C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020434]
[ENSMUST00000148897]
|
| AlphaFold |
Q9CQ35 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020434
AA Change: Y143C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020434
Gene: ENSMUSG00000020214
AA Change: Y143C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
34 |
N/A |
INTRINSIC |
|
SCP
|
49 |
199 |
7.3e-30 |
SMART |
|
transmembrane domain
|
251 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
303 |
331 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148897
AA Change: Y143C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122771
Gene: ENSMUSG00000020214
AA Change: Y143C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
34 |
N/A |
INTRINSIC |
|
SCP
|
49 |
199 |
7.3e-30 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162341
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cysteine-rich secretory protein, antigen 5, and pathogenesis-related 1 superfamily. Members of this family have roles in a variety of processes, including cancer and immune defense. This gene is located in a cluster with two related genes on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Baz1b |
T |
C |
5: 135,246,138 (GRCm39) |
L529P |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,197,399 (GRCm39) |
D995E |
probably benign |
Het |
| Cd22 |
T |
C |
7: 30,566,893 (GRCm39) |
N607S |
possibly damaging |
Het |
| Ddx10 |
T |
A |
9: 53,146,682 (GRCm39) |
D180V |
probably damaging |
Het |
| Dennd4c |
T |
C |
4: 86,725,672 (GRCm39) |
Y709H |
possibly damaging |
Het |
| Dhrs3 |
A |
C |
4: 144,620,133 (GRCm39) |
I17L |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 30,868,747 (GRCm39) |
K394* |
probably null |
Het |
| Flnc |
T |
A |
6: 29,454,375 (GRCm39) |
I1896N |
probably damaging |
Het |
| Lmo7 |
T |
C |
14: 102,163,524 (GRCm39) |
|
probably benign |
Het |
| Lpp |
C |
T |
16: 24,580,895 (GRCm39) |
R204W |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 71,241,888 (GRCm39) |
S98P |
probably benign |
Het |
| Myf5 |
A |
G |
10: 107,320,051 (GRCm39) |
S200P |
possibly damaging |
Het |
| Or52r1b |
T |
G |
7: 102,690,928 (GRCm39) |
S76A |
possibly damaging |
Het |
| Pramel12 |
G |
A |
4: 143,143,512 (GRCm39) |
V93I |
probably benign |
Het |
| Recql5 |
A |
C |
11: 115,784,856 (GRCm39) |
S824A |
probably benign |
Het |
| Reg2 |
A |
G |
6: 78,383,188 (GRCm39) |
E45G |
probably damaging |
Het |
| Rergl |
T |
C |
6: 139,471,918 (GRCm39) |
D77G |
probably benign |
Het |
| Rnf224 |
T |
C |
2: 25,126,260 (GRCm39) |
D31G |
probably damaging |
Het |
| Sema4c |
C |
T |
1: 36,592,166 (GRCm39) |
S227N |
probably damaging |
Het |
| Sgsm2 |
C |
T |
11: 74,750,698 (GRCm39) |
G439D |
probably damaging |
Het |
| Smap2 |
T |
A |
4: 120,832,587 (GRCm39) |
M185L |
probably benign |
Het |
| Spty2d1 |
A |
G |
7: 46,647,360 (GRCm39) |
V523A |
probably benign |
Het |
| Stk17b |
C |
A |
1: 53,803,247 (GRCm39) |
R184L |
probably damaging |
Het |
| Syt13 |
A |
G |
2: 92,771,210 (GRCm39) |
D99G |
probably damaging |
Het |
| Trav14-1 |
T |
A |
14: 53,791,763 (GRCm39) |
S38T |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,700,812 (GRCm39) |
|
probably benign |
Het |
| Usp17la |
G |
A |
7: 104,510,353 (GRCm39) |
W319* |
probably null |
Het |
| Vmn2r73 |
T |
C |
7: 85,521,902 (GRCm39) |
T146A |
probably benign |
Het |
| Vwa3b |
C |
T |
1: 37,193,132 (GRCm39) |
|
probably benign |
Het |
| Zfp13 |
A |
T |
17: 23,799,739 (GRCm39) |
|
probably benign |
Het |
| Zscan18 |
A |
C |
7: 12,503,251 (GRCm39) |
D769E |
probably benign |
Het |
|
| Other mutations in Glipr1l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00900:Glipr1l2
|
APN |
10 |
111,933,887 (GRCm39) |
missense |
probably benign |
|
|
IGL02683:Glipr1l2
|
APN |
10 |
111,919,381 (GRCm39) |
missense |
probably benign |
|
|
PIT1430001:Glipr1l2
|
UTSW |
10 |
111,942,745 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0450:Glipr1l2
|
UTSW |
10 |
111,928,477 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1172:Glipr1l2
|
UTSW |
10 |
111,919,371 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1173:Glipr1l2
|
UTSW |
10 |
111,919,371 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1174:Glipr1l2
|
UTSW |
10 |
111,919,371 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1175:Glipr1l2
|
UTSW |
10 |
111,919,371 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1743:Glipr1l2
|
UTSW |
10 |
111,928,470 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1918:Glipr1l2
|
UTSW |
10 |
111,928,550 (GRCm39) |
nonsense |
probably null |
|
|
R4879:Glipr1l2
|
UTSW |
10 |
111,943,029 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4964:Glipr1l2
|
UTSW |
10 |
111,942,904 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5122:Glipr1l2
|
UTSW |
10 |
111,942,961 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6059:Glipr1l2
|
UTSW |
10 |
111,919,423 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7102:Glipr1l2
|
UTSW |
10 |
111,928,330 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7593:Glipr1l2
|
UTSW |
10 |
111,928,465 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8503:Glipr1l2
|
UTSW |
10 |
111,943,075 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9658:Glipr1l2
|
UTSW |
10 |
111,942,868 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9793:Glipr1l2
|
UTSW |
10 |
111,942,905 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Posted On |
2015-04-16 |
Incidental Mutation