Incidental Mutation 'IGL03179:Cckbr'
ID412134
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: 0.074) question?
Stock #IGL03179
Quality Score
Status
Chromosome7
Chromosomal Location105425731-105470898 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 105434923 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 288 (V288A)
Ref Sequence ENSEMBL: ENSMUSP00000033189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033189] [ENSMUST00000181339]
Predicted Effect probably benign
Transcript: ENSMUST00000033189
AA Change: V288A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000033189
Gene: ENSMUSG00000030898
AA Change: V288A

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
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
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932429P05Rik G A X: 89,752,828 G89S possibly damaging Het
AI314180 C T 4: 58,832,777 G861D probably damaging Het
Akap11 T A 14: 78,507,740 H1736L probably benign Het
App A G 16: 85,082,847 C133R probably damaging Het
Atxn7l2 G T 3: 108,203,647 C524* probably null Het
Ccr1l1 T C 9: 123,977,750 Y220C probably damaging Het
Cdc42se2 A T 11: 54,723,591 F47I possibly damaging Het
Cep290 T A 10: 100,568,088 I2317N possibly damaging Het
Chrnd T C 1: 87,195,780 S347P probably damaging Het
Clcn5 T A X: 7,163,326 probably null Het
D6Wsu163e A G 6: 126,950,111 D187G probably damaging Het
Dnajc13 T A 9: 104,167,435 I1852F probably benign Het
Fcnb A G 2: 28,076,634 S296P possibly damaging Het
Fut2 C T 7: 45,650,649 R233K probably benign Het
Gm21985 G A 2: 112,358,555 V1078I possibly damaging Het
Gpc3 A T X: 52,397,213 probably benign Het
Krt10 A G 11: 99,389,218 probably benign Het
Lrrk2 A G 15: 91,700,578 E370G probably damaging Het
Myo5c A T 9: 75,255,866 I326F possibly damaging Het
Neb A T 2: 52,176,641 L5906Q probably damaging Het
Nrd1 A T 4: 109,046,691 probably benign Het
Nrip2 A G 6: 128,404,975 N17S possibly damaging Het
Olfr568 T C 7: 102,878,072 probably benign Het
Olfr750 T C 14: 51,071,010 I128V probably benign Het
P2rx7 A G 5: 122,673,700 Y358C possibly damaging Het
Pex10 A C 4: 155,067,897 I61L probably benign Het
Phax T C 18: 56,580,292 F248L probably damaging Het
Phtf2 A T 5: 20,782,399 D366E probably damaging Het
Pnpo A G 11: 96,939,259 Y205H possibly damaging Het
Pparg T A 6: 115,439,872 W9R probably damaging Het
Prex1 C T 2: 166,585,194 S867N probably benign Het
Pyroxd2 T A 19: 42,747,562 N59I possibly damaging Het
Rnf135 T A 11: 80,194,011 S203R possibly damaging Het
Sall1 T A 8: 89,031,661 N605I probably benign Het
Scara3 C T 14: 65,931,154 R338H probably damaging Het
Slc25a14 T C X: 48,637,440 S152P probably benign Het
Strip1 A T 3: 107,620,255 F436I probably damaging Het
Tgfa T C 6: 86,271,421 L135P probably benign Het
Tgif1 T C 17: 70,844,947 Q170R possibly damaging Het
Tmc2 G A 2: 130,229,187 E279K probably damaging Het
Tnks G T 8: 34,848,670 N987K probably benign Het
Traf3ip3 T C 1: 193,194,368 E209G probably damaging Het
Vmn2r73 T A 7: 85,870,260 I497L probably benign Het
Wrn C A 8: 33,310,706 probably null Het
Zcchc24 T C 14: 25,719,662 I193V possibly damaging 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
IGL01931:Cckbr APN 7 105426103 missense probably benign
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
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
R7194:Cckbr UTSW 7 105435345 missense possibly damaging 0.72
R7293:Cckbr UTSW 7 105434645 missense probably benign 0.05
R7581:Cckbr UTSW 7 105433786 missense probably benign 0.05
R7793:Cckbr UTSW 7 105433591 missense probably benign 0.00
R7891:Cckbr UTSW 7 105435350 missense probably benign 0.00
R7974:Cckbr UTSW 7 105435350 missense probably benign 0.00
RF009:Cckbr UTSW 7 105434686 frame shift probably null
RF039:Cckbr UTSW 7 105434686 frame shift probably null
RF062:Cckbr UTSW 7 105434687 frame shift probably null
Posted On2016-08-02