Incidental Mutation 'IGL01931:Cckbr'
ID180434
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cckbr
Ensembl Gene ENSMUSG00000030898
Gene Namecholecystokinin B receptor
SynonymsCCK2/gastrin, CCK2R, CCKR-2, CCK-B/gastrin receptor
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL01931
Quality Score
Status
Chromosome7
Chromosomal Location105425731-105470898 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 105426103 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 27 (S27P)
Ref Sequence ENSEMBL: ENSMUSP00000138052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033189] [ENSMUST00000181339]
Predicted Effect probably benign
Transcript: ENSMUST00000033189
AA Change: S27P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033189
Gene: ENSMUSG00000030898
AA Change: S27P

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 benign
Transcript: ENSMUST00000181339
AA Change: S27P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138052
Gene: ENSMUSG00000030898
AA Change: S27P

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533L02Rik A G 7: 125,318,697 E87G unknown Het
Ano2 A G 6: 125,982,745 Y656C probably damaging Het
Celsr1 T A 15: 85,907,660 N2580I probably damaging Het
Cfap221 A G 1: 119,932,895 L667P probably damaging Het
Col16a1 T C 4: 130,072,841 C555R possibly damaging Het
Dync2h1 G A 9: 7,011,207 S3669L probably benign Het
Dync2h1 A G 9: 7,114,973 V162A probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm4922 A G 10: 18,784,294 S227P probably benign Het
Grin2c A G 11: 115,253,910 F597L probably damaging Het
Hook3 G A 8: 26,088,055 probably benign Het
Ltv1 A G 10: 13,185,501 I106T probably damaging Het
Mdc1 T C 17: 35,848,231 V501A probably benign Het
Myo15 T A 11: 60,496,138 C667S probably damaging Het
Myom3 T C 4: 135,789,639 V840A probably benign Het
Naip1 G T 13: 100,409,032 C1329* probably null Het
Oas1c A C 5: 120,805,495 I193S probably benign Het
Osbp2 C T 11: 3,705,388 probably null Het
Phf1 T C 17: 26,935,535 probably benign Het
Pisd C A 5: 32,739,132 probably null Het
Ppox T C 1: 171,277,883 Q302R probably null Het
Sec24b G A 3: 130,009,799 P305S probably benign Het
Spink5 A T 18: 44,015,638 I923F probably benign Het
Thsd7a A T 6: 12,504,099 V352E probably damaging Het
Tpi1 A G 6: 124,812,640 V152A possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdfy4 C T 14: 33,155,753 G85S probably damaging Het
Wnk4 A G 11: 101,268,484 T139A possibly damaging Het
Zfp345 T C 2: 150,473,350 H89R probably benign Het
Other mutations in Cckbr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Cckbr APN 7 105434242 missense probably benign 0.01
IGL01630:Cckbr APN 7 105434086 missense probably damaging 1.00
IGL01955:Cckbr APN 7 105434962 missense probably damaging 0.97
IGL02219:Cckbr APN 7 105434048 missense probably damaging 1.00
IGL02820:Cckbr APN 7 105434031 missense probably damaging 1.00
IGL02858:Cckbr APN 7 105434031 missense probably damaging 1.00
IGL02878:Cckbr APN 7 105434031 missense probably damaging 1.00
IGL02946:Cckbr APN 7 105434031 missense probably damaging 1.00
IGL03179:Cckbr APN 7 105434923 missense probably benign 0.02
FR4548:Cckbr UTSW 7 105434681 small deletion probably benign
R0380:Cckbr UTSW 7 105434991 missense probably benign 0.00
R1767:Cckbr UTSW 7 105434551 missense possibly damaging 0.56
R3890:Cckbr UTSW 7 105426169 missense probably benign 0.00
R3892:Cckbr UTSW 7 105426169 missense probably benign 0.00
R5116:Cckbr UTSW 7 105433655 missense probably damaging 1.00
R5589:Cckbr UTSW 7 105434525 missense probably damaging 0.98
R5975:Cckbr UTSW 7 105470619 missense probably benign 0.07
R6797:Cckbr UTSW 7 105434566 missense possibly damaging 0.85
R6940:Cckbr UTSW 7 105434896 missense probably benign 0.00
Posted On2014-05-07