Incidental Mutation 'R4364:Glipr1'
| ID |
325677 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glipr1
|
| Ensembl Gene |
ENSMUSG00000056888 |
| Gene Name |
GLI pathogenesis related 1 |
| Synonyms |
mRTVP-1, RTVP-1, RTVP1, 2410114O14Rik |
| MMRRC Submission |
041672-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R4364 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
111821353-111838536 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111821542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 220
(N220S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123990
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074805]
[ENSMUST00000161870]
[ENSMUST00000162508]
[ENSMUST00000163048]
[ENSMUST00000174653]
|
| AlphaFold |
Q9CWG1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074805
AA Change: N220S
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000074359
Gene: ENSMUSG00000056888
AA Change: N220S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
SCP
|
32 |
172 |
4.04e-55 |
SMART |
|
transmembrane domain
|
222 |
244 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000075924
|
| Predicted Effect |
silent
Transcript: ENSMUST00000161870
|
| SMART Domains |
Protein: ENSMUSP00000134094
Gene: ENSMUSG00000056888
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAP
|
1 |
42 |
9.2e-10 |
PFAM |
|
low complexity region
|
82 |
93 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162508
AA Change: N220S
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123990
Gene: ENSMUSG00000056888
AA Change: N220S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
SCP
|
32 |
172 |
4.04e-55 |
SMART |
|
transmembrane domain
|
222 |
244 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163048
|
| SMART Domains |
Protein: ENSMUSP00000125746
Gene: ENSMUSG00000063334
| Domain | Start | End | E-Value | Type |
|---|
|
KH
|
138 |
210 |
4.85e-6 |
SMART |
|
low complexity region
|
246 |
264 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
363 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174653
|
| SMART Domains |
Protein: ENSMUSP00000134408
Gene: ENSMUSG00000063334
| Domain | Start | End | E-Value | Type |
|---|
|
KH
|
138 |
210 |
4.85e-6 |
SMART |
|
low complexity region
|
265 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
306 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1709 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
93% (40/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with similarity to both the pathogenesis-related protein (PR) superfamily and the cysteine-rich secretory protein (CRISP) family. Increased expression of this gene is associated with myelomocytic differentiation in macrophage and decreased expression of this gene through gene methylation is associated with prostate cancer. The protein has proapoptotic activities in prostate and bladder cancer cells. This gene is a member of a cluster on chromosome 12 containing two other similar genes. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted inactivation of this gene renders mice more vulnerable to spontaneous tumorigenesis, leading to the formation of a wide spectrum of tumors and significantly shorter tumor-free survival times. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amn |
A |
C |
12: 111,238,196 (GRCm39) |
N37H |
probably damaging |
Het |
| Apoa5 |
A |
T |
9: 46,181,827 (GRCm39) |
D301V |
probably damaging |
Het |
| Atrn |
A |
G |
2: 130,812,128 (GRCm39) |
E691G |
probably benign |
Het |
| Ccer1 |
CGAGGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGA |
10: 97,530,232 (GRCm39) |
|
probably benign |
Het |
| Cct2 |
A |
G |
10: 116,891,056 (GRCm39) |
V396A |
probably damaging |
Het |
| Dhx35 |
C |
T |
2: 158,684,272 (GRCm39) |
Q516* |
probably null |
Het |
| Dop1b |
A |
G |
16: 93,567,812 (GRCm39) |
K1413R |
probably benign |
Het |
| Dpp9 |
T |
C |
17: 56,494,391 (GRCm39) |
H856R |
possibly damaging |
Het |
| Eif4e2 |
T |
C |
1: 87,152,093 (GRCm39) |
F97L |
probably benign |
Het |
| Exoc6b |
A |
T |
6: 84,980,161 (GRCm39) |
|
probably benign |
Het |
| Fat1 |
T |
A |
8: 45,405,999 (GRCm39) |
S917T |
probably benign |
Het |
| Frem1 |
A |
T |
4: 82,831,488 (GRCm39) |
Y2043N |
probably damaging |
Het |
| Galnt14 |
A |
G |
17: 73,819,154 (GRCm39) |
I312T |
probably damaging |
Het |
| Grid1 |
A |
G |
14: 34,667,989 (GRCm39) |
E172G |
probably benign |
Het |
| Hspa4l |
C |
A |
3: 40,721,241 (GRCm39) |
|
probably null |
Het |
| Il1rl2 |
G |
T |
1: 40,390,951 (GRCm39) |
R298L |
probably benign |
Het |
| Il7r |
T |
A |
15: 9,513,014 (GRCm39) |
H165L |
probably damaging |
Het |
| Krt87 |
T |
G |
15: 101,385,395 (GRCm39) |
M326L |
probably benign |
Het |
| Lcn10 |
G |
T |
2: 25,574,052 (GRCm39) |
C85F |
probably damaging |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Nup205 |
C |
A |
6: 35,168,962 (GRCm39) |
P397Q |
probably benign |
Het |
| Or4d10 |
A |
G |
19: 12,051,861 (GRCm39) |
V45A |
probably benign |
Het |
| Or4f17-ps1 |
G |
A |
2: 111,357,985 (GRCm39) |
V127M |
probably benign |
Het |
| Or8b12c |
A |
T |
9: 37,715,486 (GRCm39) |
H93L |
probably benign |
Het |
| Prkce |
C |
T |
17: 86,784,279 (GRCm39) |
T218I |
probably damaging |
Het |
| Rhbdl2 |
T |
A |
4: 123,703,728 (GRCm39) |
M1K |
probably null |
Het |
| Ripor2 |
C |
T |
13: 24,905,694 (GRCm39) |
P947S |
probably benign |
Het |
| Shoc1 |
T |
G |
4: 59,082,294 (GRCm39) |
T445P |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,899,136 (GRCm39) |
L428P |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,303,987 (GRCm39) |
V789A |
probably damaging |
Het |
| Taar8c |
C |
T |
10: 23,977,477 (GRCm39) |
V112M |
probably benign |
Het |
| Tex10 |
T |
C |
4: 48,468,774 (GRCm39) |
I51V |
probably benign |
Het |
| Ttll1 |
T |
A |
15: 83,384,195 (GRCm39) |
Q144L |
probably damaging |
Het |
|
| Other mutations in Glipr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00233:Glipr1
|
APN |
10 |
111,821,555 (GRCm39) |
missense |
probably benign |
|
|
IGL00553:Glipr1
|
APN |
10 |
111,822,574 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02391:Glipr1
|
APN |
10 |
111,824,799 (GRCm39) |
unclassified |
probably benign |
|
|
R0115:Glipr1
|
UTSW |
10 |
111,829,446 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0486:Glipr1
|
UTSW |
10 |
111,832,754 (GRCm39) |
splice site |
probably benign |
|
|
R1349:Glipr1
|
UTSW |
10 |
111,829,437 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1822:Glipr1
|
UTSW |
10 |
111,832,765 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4905:Glipr1
|
UTSW |
10 |
111,821,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4974:Glipr1
|
UTSW |
10 |
111,829,411 (GRCm39) |
nonsense |
probably null |
|
|
R5734:Glipr1
|
UTSW |
10 |
111,821,698 (GRCm39) |
nonsense |
probably null |
|
|
R7603:Glipr1
|
UTSW |
10 |
111,824,737 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8238:Glipr1
|
UTSW |
10 |
111,829,345 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9489:Glipr1
|
UTSW |
10 |
111,832,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9605:Glipr1
|
UTSW |
10 |
111,832,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Glipr1
|
UTSW |
10 |
111,824,742 (GRCm39) |
missense |
probably benign |
0.19 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCGAAAGACAAGTTAACTCTG -3'
(R):5'- CTGGTTTTACAGTTAACCCACGAC -3'
Sequencing Primer
(F):5'- CGAAAGACAAGTTAACTCTGTAGAC -3'
(R):5'- GTTTTACAGTTAACCCACGACGAGAC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation