Incidental Mutation 'R5975:Cckbr'
ID 471686
Institutional Source Beutler Lab
Gene Symbol Cckbr
Ensembl Gene ENSMUSG00000030898
Gene Name cholecystokinin B receptor
Synonyms CCK2/gastrin, CCK2R, CCKR-2, CCK-B/gastrin receptor
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R5975 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 105425731-105470898 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 105470619 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 280 (G280E)
Ref Sequence ENSEMBL: ENSMUSP00000138052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000181339]
AlphaFold P56481
Predicted Effect probably benign
Transcript: ENSMUST00000181339
AA Change: G280E

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000138052
Gene: ENSMUSG00000030898
AA Change: G280E

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 98% (80/82)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik C T 3: 36,969,221 (GRCm38) T2233I possibly damaging Het
9430038I01Rik T C 7: 137,387,292 (GRCm38) probably benign Het
Abhd14a A T 9: 106,443,951 (GRCm38) probably null Het
Actn2 T C 13: 12,340,497 (GRCm38) N2D probably benign Het
Adcy9 T C 16: 4,311,567 (GRCm38) E722G probably damaging Het
Alox12 C A 11: 70,242,783 (GRCm38) V572L possibly damaging Het
Ankrd11 T C 8: 122,889,749 (GRCm38) I2434V possibly damaging Het
Anks1 T A 17: 27,991,447 (GRCm38) probably null Het
Bpifa3 T A 2: 154,136,321 (GRCm38) S148T probably damaging Het
Bptf C T 11: 107,035,864 (GRCm38) probably benign Het
Cabin1 A T 10: 75,657,839 (GRCm38) L1655H probably damaging Het
Ccdc13 G T 9: 121,827,235 (GRCm38) Q171K probably benign Het
Ccdc33 T A 9: 58,117,478 (GRCm38) Q155L possibly damaging Het
Cdk11b G A 4: 155,648,240 (GRCm38) probably benign Het
Celsr1 G T 15: 85,919,038 (GRCm38) probably null Het
Cenpj A T 14: 56,564,066 (GRCm38) I150N possibly damaging Het
Cep135 C A 5: 76,640,890 (GRCm38) A1110E possibly damaging Het
Chit1 C A 1: 134,146,626 (GRCm38) H224N probably damaging Het
Cul5 T C 9: 53,622,793 (GRCm38) R680G probably damaging Het
Dhx58 C A 11: 100,702,209 (GRCm38) R224L probably damaging Het
Dlx1 C A 2: 71,531,009 (GRCm38) N122K probably damaging Het
Dnah5 A C 15: 28,234,282 (GRCm38) D279A probably damaging Het
Enpp3 A G 10: 24,774,842 (GRCm38) W799R probably benign Het
Ercc5 A G 1: 44,173,406 (GRCm38) T675A probably benign Het
Farsa T A 8: 84,864,432 (GRCm38) probably null Het
Fbxw15 A T 9: 109,555,252 (GRCm38) V397D probably damaging Het
Fcrl5 G A 3: 87,442,103 (GRCm38) V62I probably benign Het
Gart A G 16: 91,624,336 (GRCm38) S815P probably damaging Het
Glrx5 A G 12: 105,040,323 (GRCm38) N111S possibly damaging Het
Gm10845 A G 14: 79,863,174 (GRCm38) noncoding transcript Het
Gm11639 A G 11: 104,687,549 (GRCm38) probably benign Het
Gm8882 A G 6: 132,362,073 (GRCm38) S61P unknown Het
Gm9925 T A 18: 74,065,516 (GRCm38) probably benign Het
Gsdme T C 6: 50,227,359 (GRCm38) N206S probably benign Het
Helz2 T C 2: 181,231,050 (GRCm38) S2459G probably benign Het
Hnrnpul1 A G 7: 25,754,359 (GRCm38) S93P possibly damaging Het
Ints2 A T 11: 86,226,748 (GRCm38) I716N possibly damaging Het
Lmnb2 G A 10: 80,905,128 (GRCm38) Q248* probably null Het
Map3k7cl A G 16: 87,570,321 (GRCm38) I32V probably benign Het
Mfsd4b4 A T 10: 39,892,470 (GRCm38) I255N probably benign Het
Myh6 A G 14: 54,950,508 (GRCm38) I1163T probably benign Het
Nphs1 A T 7: 30,466,115 (GRCm38) T636S possibly damaging Het
Ntsr1 T A 2: 180,500,788 (GRCm38) L124Q probably damaging Het
Obscn C T 11: 59,122,619 (GRCm38) probably null Het
P4ha2 G A 11: 54,126,412 (GRCm38) probably null Het
Pcdha9 T A 18: 36,999,111 (GRCm38) V411D probably benign Het
Pkhd1l1 A T 15: 44,525,988 (GRCm38) I1380F probably damaging Het
Plekha1 T C 7: 130,892,253 (GRCm38) V106A probably benign Het
Plekhm1 A T 11: 103,376,691 (GRCm38) V818E possibly damaging Het
Pprc1 T G 19: 46,065,370 (GRCm38) probably benign Het
Prmt9 T C 8: 77,561,018 (GRCm38) probably benign Het
Rab26 T C 17: 24,530,399 (GRCm38) N193D possibly damaging Het
Rnf111 A G 9: 70,429,580 (GRCm38) S942P probably damaging Het
Scgb2b18 T C 7: 33,173,225 (GRCm38) T52A probably damaging Het
Syt3 C T 7: 44,392,763 (GRCm38) Q349* probably null Het
Tas2r107 T C 6: 131,659,780 (GRCm38) N102S probably benign Het
Tas2r126 T A 6: 42,435,000 (GRCm38) Y156N possibly damaging Het
Tcaf2 A T 6: 42,642,778 (GRCm38) I105N probably benign Het
Tet1 A C 10: 62,879,773 (GRCm38) M81R probably benign Het
Togaram2 T C 17: 71,729,205 (GRCm38) Y897H probably damaging Het
Trerf1 A T 17: 47,314,271 (GRCm38) noncoding transcript Het
Ttn G A 2: 76,761,235 (GRCm38) T12703I probably damaging Het
Unc79 A G 12: 103,125,626 (GRCm38) K1735E possibly damaging Het
Usp54 G A 14: 20,583,351 (GRCm38) T372I possibly damaging Het
Wdr24 T C 17: 25,827,128 (GRCm38) S476P probably benign Het
Wdr78 G A 4: 103,049,589 (GRCm38) P676S probably benign Het
Zbtb1 T C 12: 76,386,275 (GRCm38) I345T possibly damaging Het
Zcrb1 T A 15: 93,395,615 (GRCm38) I29L probably benign Het
Zfp341 T A 2: 154,630,441 (GRCm38) C315S probably damaging Het
Zfp623 C A 15: 75,948,163 (GRCm38) R323S probably benign Het
Zfp831 T A 2: 174,644,092 (GRCm38) Y187N possibly damaging Het
Other mutations in Cckbr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Cckbr APN 7 105,434,242 (GRCm38) missense probably benign 0.01
IGL01630:Cckbr APN 7 105,434,086 (GRCm38) missense probably damaging 1.00
IGL01931:Cckbr APN 7 105,426,103 (GRCm38) missense probably benign
IGL01955:Cckbr APN 7 105,434,962 (GRCm38) missense probably damaging 0.97
IGL02219:Cckbr APN 7 105,434,048 (GRCm38) missense probably damaging 1.00
IGL02820:Cckbr APN 7 105,434,031 (GRCm38) missense probably damaging 1.00
IGL02858:Cckbr APN 7 105,434,031 (GRCm38) missense probably damaging 1.00
IGL02878:Cckbr APN 7 105,434,031 (GRCm38) missense probably damaging 1.00
IGL02946:Cckbr APN 7 105,434,031 (GRCm38) missense probably damaging 1.00
IGL03179:Cckbr APN 7 105,434,923 (GRCm38) missense probably benign 0.02
FR4548:Cckbr UTSW 7 105,434,681 (GRCm38) small deletion probably benign
R0380:Cckbr UTSW 7 105,434,991 (GRCm38) missense probably benign 0.00
R1767:Cckbr UTSW 7 105,434,551 (GRCm38) missense possibly damaging 0.56
R3890:Cckbr UTSW 7 105,426,169 (GRCm38) missense probably benign 0.00
R3892:Cckbr UTSW 7 105,426,169 (GRCm38) missense probably benign 0.00
R5116:Cckbr UTSW 7 105,433,655 (GRCm38) missense probably damaging 1.00
R5589:Cckbr UTSW 7 105,434,525 (GRCm38) missense probably damaging 0.98
R6797:Cckbr UTSW 7 105,434,566 (GRCm38) missense possibly damaging 0.85
R6940:Cckbr UTSW 7 105,434,896 (GRCm38) missense probably benign 0.00
R7194:Cckbr UTSW 7 105,435,345 (GRCm38) missense possibly damaging 0.72
R7293:Cckbr UTSW 7 105,434,645 (GRCm38) missense probably benign 0.05
R7581:Cckbr UTSW 7 105,433,786 (GRCm38) missense probably benign 0.05
R7793:Cckbr UTSW 7 105,433,591 (GRCm38) missense probably benign 0.00
R7891:Cckbr UTSW 7 105,435,350 (GRCm38) missense probably benign 0.00
R8435:Cckbr UTSW 7 105,426,073 (GRCm38) missense probably benign
RF009:Cckbr UTSW 7 105,434,686 (GRCm38) frame shift probably null
RF039:Cckbr UTSW 7 105,434,686 (GRCm38) frame shift probably null
RF062:Cckbr UTSW 7 105,434,687 (GRCm38) frame shift probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2017-03-31