Incidental Mutation 'IGL02946:Cckbr'
| ID |
364752 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cckbr
|
| Ensembl Gene |
ENSMUSG00000030898 |
| Gene Name |
cholecystokinin B receptor |
| Synonyms |
CCK2R, CCK-B/gastrin receptor, CCK2/gastrin, CCKR-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
IGL02946
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
105075201-105085546 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 105083238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 147
(A147V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138052
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033189]
[ENSMUST00000181339]
|
| AlphaFold |
P56481 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033189
AA Change: A147V
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000033189
Gene: ENSMUSG00000030898
AA Change: A147V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
71 |
396 |
4.1e-59 |
PFAM |
|
low complexity region
|
409 |
434 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000181339
AA Change: A147V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138052
Gene: ENSMUSG00000030898
AA Change: A147V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
71 |
301 |
3.3e-49 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a multipass transmembrane receptor protein expressed in the central nervous system and gastrointestinal tract. Cholecystokinin and gastrin bind to the encoded protein to stimulate gastric acid secretion and mucosal growth in the gastrointestinal tract, and anxiety, pain sensation and memory in the brain. Mice lacking the encoded protein exhibit an increase in the basal gastric pH and gastrin levels in the bloodstream as well as mild hypocalcemia, secondary hyperparathyroidism and increased bone resorption. [provided by RefSeq, Apr 2015]
PHENOTYPE: Nullizygous mice show gastic mucoca defects, high gastic pH and hypergastrenemia. Homozygotes for a null allele also exhibit higher energy intake and expenditure, less susceptibility to endotoxin shock, altered pain and mechanical sensitivity, and behavioral changes to isolation and addictive drugs. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
G |
A |
11: 109,919,041 (GRCm39) |
|
probably benign |
Het |
| Actr3b |
T |
C |
5: 26,053,481 (GRCm39) |
I270T |
possibly damaging |
Het |
| Adgrf2 |
T |
C |
17: 43,021,384 (GRCm39) |
Y480C |
probably damaging |
Het |
| Arhgap27 |
T |
C |
11: 103,229,174 (GRCm39) |
T514A |
probably damaging |
Het |
| BC031181 |
C |
T |
18: 75,141,736 (GRCm39) |
|
probably benign |
Het |
| Ccm2 |
G |
A |
11: 6,546,195 (GRCm39) |
R335H |
probably damaging |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Crabp1 |
T |
C |
9: 54,672,232 (GRCm39) |
F16S |
possibly damaging |
Het |
| Crmp1 |
C |
T |
5: 37,441,424 (GRCm39) |
A502V |
probably damaging |
Het |
| Ehhadh |
A |
T |
16: 21,581,672 (GRCm39) |
V440D |
probably damaging |
Het |
| Galnt3 |
T |
A |
2: 65,925,562 (GRCm39) |
I392L |
probably damaging |
Het |
| Gm12689 |
T |
A |
4: 99,184,490 (GRCm39) |
N114K |
unknown |
Het |
| Hspa2 |
A |
G |
12: 76,451,947 (GRCm39) |
T214A |
probably damaging |
Het |
| Itga7 |
T |
C |
10: 128,769,952 (GRCm39) |
I32T |
probably benign |
Het |
| Itgal |
A |
G |
7: 126,913,540 (GRCm39) |
S682G |
probably damaging |
Het |
| Kctd1 |
C |
T |
18: 15,107,036 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
T |
A |
2: 41,202,571 (GRCm39) |
D439V |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,734,366 (GRCm39) |
K3258E |
probably damaging |
Het |
| Mgat4c |
T |
C |
10: 102,225,114 (GRCm39) |
S443P |
probably benign |
Het |
| Mylk |
G |
A |
16: 34,742,158 (GRCm39) |
G890E |
probably benign |
Het |
| Mylk2 |
T |
A |
2: 152,761,130 (GRCm39) |
L446* |
probably null |
Het |
| Niban1 |
A |
T |
1: 151,525,176 (GRCm39) |
I194F |
probably damaging |
Het |
| Or2t26 |
T |
G |
11: 49,039,719 (GRCm39) |
F212V |
probably damaging |
Het |
| Pi4k2b |
T |
C |
5: 52,910,549 (GRCm39) |
F278L |
probably damaging |
Het |
| Pitpnm3 |
A |
G |
11: 71,983,378 (GRCm39) |
S84P |
probably benign |
Het |
| Plxna2 |
T |
C |
1: 194,431,617 (GRCm39) |
|
probably benign |
Het |
| Prr5l |
C |
A |
2: 101,602,529 (GRCm39) |
|
probably null |
Het |
| Ptprs |
T |
C |
17: 56,731,032 (GRCm39) |
T719A |
probably benign |
Het |
| Rasa3 |
T |
C |
8: 13,648,280 (GRCm39) |
H128R |
probably benign |
Het |
| Rhox13 |
A |
G |
X: 37,218,652 (GRCm39) |
K205E |
probably damaging |
Het |
| Rif1 |
C |
A |
2: 52,000,137 (GRCm39) |
S1197* |
probably null |
Het |
| Sgta |
A |
G |
10: 80,885,612 (GRCm39) |
|
probably benign |
Het |
| Slc25a5 |
T |
A |
X: 36,061,506 (GRCm39) |
M239K |
probably damaging |
Het |
| Stil |
T |
A |
4: 114,887,110 (GRCm39) |
H734Q |
probably benign |
Het |
| Stk32b |
T |
C |
5: 37,688,883 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
G |
4: 139,152,606 (GRCm39) |
F1999C |
probably damaging |
Het |
| Wfdc2 |
A |
C |
2: 164,406,009 (GRCm39) |
T86P |
probably benign |
Het |
| Zfp407 |
T |
C |
18: 84,578,834 (GRCm39) |
S760G |
probably damaging |
Het |
| Zfp668 |
A |
T |
7: 127,465,690 (GRCm39) |
L498Q |
possibly damaging |
Het |
|
| Other mutations in Cckbr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00503:Cckbr
|
APN |
7 |
105,083,449 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01630:Cckbr
|
APN |
7 |
105,083,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01931:Cckbr
|
APN |
7 |
105,075,310 (GRCm39) |
missense |
probably benign |
|
|
IGL01955:Cckbr
|
APN |
7 |
105,084,169 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02219:Cckbr
|
APN |
7 |
105,083,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02820:Cckbr
|
APN |
7 |
105,083,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02858:Cckbr
|
APN |
7 |
105,083,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02878:Cckbr
|
APN |
7 |
105,083,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03179:Cckbr
|
APN |
7 |
105,084,130 (GRCm39) |
missense |
probably benign |
0.02 |
|
FR4548:Cckbr
|
UTSW |
7 |
105,083,888 (GRCm39) |
small deletion |
probably benign |
|
|
R0380:Cckbr
|
UTSW |
7 |
105,084,198 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1767:Cckbr
|
UTSW |
7 |
105,083,758 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R3890:Cckbr
|
UTSW |
7 |
105,075,376 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3892:Cckbr
|
UTSW |
7 |
105,075,376 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5116:Cckbr
|
UTSW |
7 |
105,082,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5589:Cckbr
|
UTSW |
7 |
105,083,732 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5975:Cckbr
|
UTSW |
7 |
105,119,826 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6797:Cckbr
|
UTSW |
7 |
105,083,773 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6940:Cckbr
|
UTSW |
7 |
105,084,103 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7194:Cckbr
|
UTSW |
7 |
105,084,552 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7293:Cckbr
|
UTSW |
7 |
105,083,852 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7581:Cckbr
|
UTSW |
7 |
105,082,993 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7793:Cckbr
|
UTSW |
7 |
105,082,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7891:Cckbr
|
UTSW |
7 |
105,084,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8435:Cckbr
|
UTSW |
7 |
105,075,280 (GRCm39) |
missense |
probably benign |
|
|
RF009:Cckbr
|
UTSW |
7 |
105,083,893 (GRCm39) |
frame shift |
probably null |
|
|
RF039:Cckbr
|
UTSW |
7 |
105,083,893 (GRCm39) |
frame shift |
probably null |
|
|
RF062:Cckbr
|
UTSW |
7 |
105,083,894 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation