Incidental Mutation 'RF062:Cckbr'
ID 605439
Institutional Source Beutler Lab
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 # RF062 (G1)
Quality Score 128.457
Status Not validated
Chromosome 7
Chromosomal Location 105075201-105085546 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) CAG to C at 105083894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000033189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033189] [ENSMUST00000181339]
AlphaFold P56481
Predicted Effect probably null
Transcript: ENSMUST00000033189
SMART Domains Protein: ENSMUSP00000033189
Gene: ENSMUSG00000030898

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 null
Transcript: ENSMUST00000181339
SMART Domains Protein: ENSMUSP00000138052
Gene: ENSMUSG00000030898

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
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 99.3%
  • 20x: 98.6%
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc2 GTGGCGGCGGCGGC G 2: 25,162,549 (GRCm39) probably null Het
Ankhd1 GGCGGC GGCGGCAGCGGC 18: 36,693,971 (GRCm39) probably benign Het
Defb22 TGGCCT TGGCCTCTGCGGCAGAGCCGGCCT 2: 152,327,745 (GRCm39) probably benign Het
Dennd2b GGGCAGCCCTCACTGA G 7: 109,156,153 (GRCm39) probably benign Het
Dmkn GGTGGAAGTGGTGGAAGTGGTGGAAGT GGTGGAAGTGGTGGAAGTGGTGGAAGTCGTGGAAGTGGTGGAAGTGGTGGAAGT 7: 30,466,600 (GRCm39) probably benign Het
Efhd2 GCCGCC GCCGCCTCCGCC 4: 141,602,066 (GRCm39) probably benign Het
Efhd2 CC CCGCCGAC 4: 141,602,085 (GRCm39) probably benign Het
Fsip2 TTTT TTTTGTTT 2: 82,814,707 (GRCm39) probably benign Het
Gm11060 CTGTGTG CTG 2: 104,922,385 (GRCm39) probably null Het
Gm5591 GC G 7: 38,221,759 (GRCm39) probably null Het
Krt10 CGCC CGCCGCC 11: 99,277,025 (GRCm39) probably benign Het
Krt10 ACCACCGCC ACCACCGCCACCGCC 11: 99,280,090 (GRCm39) probably benign Het
Nefh TGGGGACTTGGCCTCACCTGGGGACTTGGCCTC TGGGGACTTGGCCTCACCGGGGGACTTGGCCTCACCTGGGGACTTGGCCTC 11: 4,891,028 (GRCm39) probably benign Het
Nusap1 CAAGCTGAGA CAAGCTGAGATACACGTTAGCAGTGAGGAGGAAGCTGAGA 2: 119,458,082 (GRCm39) probably benign Het
Nusap1 A ATACACGTTAGCAGTGAGGAGCAAGCTGAGG 2: 119,458,091 (GRCm39) probably benign Het
Rfx4 CTCTCTCTCTCTCT CTCTCTCTCTCTCTCTATCTCTCTCTCTCT 10: 84,694,345 (GRCm39) probably benign Het
Tfeb GCA GCATCA 17: 48,097,025 (GRCm39) probably benign Het
Tnfaip8 ACACACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC AC 18: 50,179,898 (GRCm39) probably benign Het
Zfp384 CCCAGGCCCAGGCCCAGGCCCAGG CCCAGGCCCAGGACCAGGCCCAGGCCCAGGCCCAGG 6: 125,013,429 (GRCm39) 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
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
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
Predicted Primers PCR Primer
(F):5'- GGTCCGTGCTTCTGCTAATAC -3'
(R):5'- AGCAGCCATCACTGTCTTCC -3'

Sequencing Primer
(F):5'- GTGCTTCTGCTAATACTGCTG -3'
(R):5'- AGTCAGGCTGGTCACATGC -3'
Posted On 2019-12-04