Incidental Mutation 'IGL00900:Glipr1l2'
| ID |
28300 |
| 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: 0.054)
|
| Stock # |
IGL00900
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
111919259-111944003 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111933887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 220
(Y220H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020434]
[ENSMUST00000148897]
|
| AlphaFold |
Q9CQ35 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020434
AA Change: Y220H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020434
Gene: ENSMUSG00000020214
AA Change: Y220H
| 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 benign
Transcript: ENSMUST00000148897
AA Change: Y220H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122771
Gene: ENSMUSG00000020214
AA Change: Y220H
| 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: ENSMUST00000161922
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatf |
T |
C |
11: 84,361,383 (GRCm39) |
|
probably benign |
Het |
| Agap3 |
G |
A |
5: 24,681,366 (GRCm39) |
|
probably benign |
Het |
| Angptl2 |
A |
T |
2: 33,133,784 (GRCm39) |
M369L |
probably benign |
Het |
| Arhgef11 |
A |
G |
3: 87,590,867 (GRCm39) |
D36G |
possibly damaging |
Het |
| Ccnt1 |
A |
G |
15: 98,452,514 (GRCm39) |
V134A |
probably damaging |
Het |
| Ces1e |
T |
C |
8: 93,944,245 (GRCm39) |
H191R |
probably damaging |
Het |
| Dhh |
A |
G |
15: 98,796,101 (GRCm39) |
|
probably benign |
Het |
| Edil3 |
C |
A |
13: 89,437,652 (GRCm39) |
H418N |
probably benign |
Het |
| Fam161b |
T |
C |
12: 84,402,743 (GRCm39) |
I296V |
probably benign |
Het |
| Focad |
T |
A |
4: 88,047,260 (GRCm39) |
N86K |
probably damaging |
Het |
| Foxn1 |
C |
T |
11: 78,262,109 (GRCm39) |
G87S |
probably benign |
Het |
| Hnrnpa1 |
A |
G |
15: 103,152,166 (GRCm39) |
|
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Ipo11 |
T |
C |
13: 106,983,952 (GRCm39) |
M797V |
possibly damaging |
Het |
| Itprid2 |
G |
A |
2: 79,490,822 (GRCm39) |
R980Q |
probably damaging |
Het |
| Klhdc2 |
T |
A |
12: 69,350,308 (GRCm39) |
F118I |
probably benign |
Het |
| Mtap |
T |
A |
4: 89,090,594 (GRCm39) |
Y221* |
probably null |
Het |
| Myh2 |
T |
C |
11: 67,070,210 (GRCm39) |
V414A |
probably damaging |
Het |
| Ncor2 |
A |
T |
5: 125,102,848 (GRCm39) |
Y1999N |
probably damaging |
Het |
| Or5d39 |
A |
G |
2: 87,979,604 (GRCm39) |
F253S |
possibly damaging |
Het |
| Oxsm |
A |
G |
14: 16,242,023 (GRCm38) |
S249P |
probably damaging |
Het |
| Pabpc4l |
T |
A |
3: 46,401,507 (GRCm39) |
I46F |
possibly damaging |
Het |
| Pcnx2 |
A |
G |
8: 126,589,975 (GRCm39) |
|
probably benign |
Het |
| Rasal2 |
A |
G |
1: 157,239,499 (GRCm39) |
S4P |
possibly damaging |
Het |
| Reln |
A |
G |
5: 22,185,115 (GRCm39) |
V1534A |
probably damaging |
Het |
| Rnf138 |
T |
A |
18: 21,154,017 (GRCm39) |
D174E |
possibly damaging |
Het |
| Sh3pxd2a |
T |
A |
19: 47,302,594 (GRCm39) |
N162Y |
probably benign |
Het |
| Slc6a4 |
A |
T |
11: 76,914,006 (GRCm39) |
T519S |
probably benign |
Het |
| Slfn9 |
A |
T |
11: 82,872,197 (GRCm39) |
C846* |
probably null |
Het |
| Trip12 |
A |
G |
1: 84,702,485 (GRCm39) |
S1945P |
possibly damaging |
Het |
| Vmn1r232 |
A |
G |
17: 21,134,394 (GRCm39) |
F69L |
probably benign |
Het |
| Zeb2 |
T |
C |
2: 44,887,287 (GRCm39) |
D545G |
probably damaging |
Het |
|
| Other mutations in Glipr1l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02236:Glipr1l2
|
APN |
10 |
111,928,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-04-17 |
Incidental Mutation