Incidental Mutation 'IGL02820:Cckbr'
ID 360983
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: 0.073) question?
Stock # IGL02820
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624G23Rik T C 12: 24,124,417 (GRCm39) Y86C probably benign Het
Adgra2 G A 8: 27,607,535 (GRCm39) V47M probably damaging Het
Anks1b T C 10: 89,912,921 (GRCm39) C349R possibly damaging Het
Anks4b A T 7: 119,781,914 (GRCm39) probably benign Het
Apobec2 A G 17: 48,730,295 (GRCm39) S124P probably damaging Het
Brd8 G A 18: 34,740,354 (GRCm39) S493L probably benign Het
Cbln3 A G 14: 56,120,944 (GRCm39) Y126H probably damaging Het
Ccdc138 T C 10: 58,364,721 (GRCm39) probably benign Het
Ceacam2 T A 7: 25,219,411 (GRCm39) H283L probably damaging Het
Cfap251 A G 5: 123,392,699 (GRCm39) probably benign Het
Clasp1 A G 1: 118,478,834 (GRCm39) D718G possibly damaging Het
Clmn A T 12: 104,739,493 (GRCm39) Y979N probably damaging Het
Ddias T C 7: 92,508,551 (GRCm39) T455A probably benign Het
Dennd5b T C 6: 148,920,840 (GRCm39) R851G probably null Het
Dock1 T C 7: 134,768,944 (GRCm39) V1771A probably benign Het
Dysf T A 6: 84,077,187 (GRCm39) L694Q probably damaging Het
Faim2 T C 15: 99,419,138 (GRCm39) Y77C probably benign Het
Fbxw22 A T 9: 109,215,732 (GRCm39) I172N probably damaging Het
Fhad1 C T 4: 141,646,069 (GRCm39) D298N probably benign Het
Fyb1 T G 15: 6,688,040 (GRCm39) V800G possibly damaging Het
Gcm1 T C 9: 77,971,844 (GRCm39) F262L probably benign Het
Gm21983 T C 7: 26,879,605 (GRCm39) M121V probably benign Het
Gm9996 A T 10: 29,019,657 (GRCm39) probably benign Het
Gstm3 A T 3: 107,876,074 (GRCm39) probably benign Het
Gsto2 G T 19: 47,863,398 (GRCm39) E91D probably damaging Het
Hs6st3 G T 14: 119,376,492 (GRCm39) M222I possibly damaging Het
Ighv3-6 T C 12: 114,251,850 (GRCm39) D90G probably damaging Het
Itgb1bp1 C T 12: 21,326,854 (GRCm39) A40T possibly damaging Het
Kcns3 C T 12: 11,141,872 (GRCm39) E276K probably benign Het
Lamc3 C T 2: 31,813,034 (GRCm39) R1007C probably damaging Het
Lnx2 A T 5: 146,978,877 (GRCm39) M125K probably damaging Het
Lyst T A 13: 13,812,643 (GRCm39) N1018K probably benign Het
Mctp2 T A 7: 71,895,290 (GRCm39) S186C probably damaging Het
Or1j20 A T 2: 36,759,871 (GRCm39) T98S probably benign Het
Polg T C 7: 79,109,519 (GRCm39) T433A possibly damaging Het
Rdh13 C T 7: 4,438,059 (GRCm39) V127M probably damaging Het
Rdh16 A G 10: 127,649,470 (GRCm39) T309A probably benign Het
Reep5 A T 18: 34,506,312 (GRCm39) D21E probably benign Het
Rptn A T 3: 93,304,227 (GRCm39) N520I probably benign Het
Rttn T C 18: 89,047,122 (GRCm39) L928P probably damaging Het
Slc44a2 A G 9: 21,254,273 (GRCm39) I212V probably benign Het
Snupn A G 9: 56,870,332 (GRCm39) T71A probably benign Het
Ssu2 T C 6: 112,359,353 (GRCm39) N89S probably benign Het
Thsd7a A G 6: 12,321,071 (GRCm39) S1535P probably damaging Het
Tmt1a C A 15: 100,202,933 (GRCm39) S51* probably null Het
Uba7 A T 9: 107,858,715 (GRCm39) S849C probably benign Het
Vmn2r80 A G 10: 79,007,439 (GRCm39) T472A probably benign Het
Wdr6 A G 9: 108,455,743 (GRCm39) I17T probably benign Het
Xkr9 G A 1: 13,771,173 (GRCm39) V230I probably benign Het
Other mutations in Cckbr
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
IGL02946: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