Mutagenetix > Incidental Mutation

Incidental Mutation 'R5975:Cckbr'

471686

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: 0.069) question?

Stock #

R5975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105075201-105085546 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 105119826 bp (GRCm39)

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

Domain	Start	End	E-Value	Type
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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	T	C	7: 136,989,021 (GRCm39)		probably benign	Het
Abhd14a	A	T	9: 106,321,150 (GRCm39)		probably null	Het
Actn2	T	C	13: 12,355,378 (GRCm39)	N2D	probably benign	Het
Adcy9	T	C	16: 4,129,431 (GRCm39)	E722G	probably damaging	Het
Alox12	C	A	11: 70,133,609 (GRCm39)	V572L	possibly damaging	Het
Ankrd11	T	C	8: 123,616,488 (GRCm39)	I2434V	possibly damaging	Het
Anks1	T	A	17: 28,210,421 (GRCm39)		probably null	Het
Bltp1	C	T	3: 37,023,370 (GRCm39)	T2233I	possibly damaging	Het
Bpifa3	T	A	2: 153,978,241 (GRCm39)	S148T	probably damaging	Het
Bptf	C	T	11: 106,926,690 (GRCm39)		probably benign	Het
Cabin1	A	T	10: 75,493,673 (GRCm39)	L1655H	probably damaging	Het
Ccdc13	G	T	9: 121,656,301 (GRCm39)	Q171K	probably benign	Het
Ccdc33	T	A	9: 58,024,761 (GRCm39)	Q155L	possibly damaging	Het
Cdk11b	G	A	4: 155,732,697 (GRCm39)		probably benign	Het
Celsr1	G	T	15: 85,803,239 (GRCm39)		probably null	Het
Cenpj	A	T	14: 56,801,523 (GRCm39)	I150N	possibly damaging	Het
Cep135	C	A	5: 76,788,737 (GRCm39)	A1110E	possibly damaging	Het
Chit1	C	A	1: 134,074,364 (GRCm39)	H224N	probably damaging	Het
Cul5	T	C	9: 53,534,093 (GRCm39)	R680G	probably damaging	Het
Dhx58	C	A	11: 100,593,035 (GRCm39)	R224L	probably damaging	Het
Dlx1	C	A	2: 71,361,353 (GRCm39)	N122K	probably damaging	Het
Dnah5	A	C	15: 28,234,428 (GRCm39)	D279A	probably damaging	Het
Dnai4	G	A	4: 102,906,786 (GRCm39)	P676S	probably benign	Het
Efcab3	A	G	11: 104,578,375 (GRCm39)		probably benign	Het
Enpp3	A	G	10: 24,650,740 (GRCm39)	W799R	probably benign	Het
Ercc5	A	G	1: 44,212,566 (GRCm39)	T675A	probably benign	Het
Farsa	T	A	8: 85,591,061 (GRCm39)		probably null	Het
Fbxw15	A	T	9: 109,384,320 (GRCm39)	V397D	probably damaging	Het
Fcrl5	G	A	3: 87,349,410 (GRCm39)	V62I	probably benign	Het
Gart	A	G	16: 91,421,224 (GRCm39)	S815P	probably damaging	Het
Glrx5	A	G	12: 105,006,582 (GRCm39)	N111S	possibly damaging	Het
Gm10845	A	G	14: 80,100,614 (GRCm39)		noncoding transcript	Het
Gm9925	T	A	18: 74,198,587 (GRCm39)		probably benign	Het
Gsdme	T	C	6: 50,204,339 (GRCm39)	N206S	probably benign	Het
Helz2	T	C	2: 180,872,843 (GRCm39)	S2459G	probably benign	Het
Hnrnpul1	A	G	7: 25,453,784 (GRCm39)	S93P	possibly damaging	Het
Ints2	A	T	11: 86,117,574 (GRCm39)	I716N	possibly damaging	Het
Lmnb2	G	A	10: 80,740,962 (GRCm39)	Q248*	probably null	Het
Map3k7cl	A	G	16: 87,367,209 (GRCm39)	I32V	probably benign	Het
Mfsd4b4	A	T	10: 39,768,466 (GRCm39)	I255N	probably benign	Het
Myh6	A	G	14: 55,187,965 (GRCm39)	I1163T	probably benign	Het
Nphs1	A	T	7: 30,165,540 (GRCm39)	T636S	possibly damaging	Het
Ntsr1	T	A	2: 180,142,581 (GRCm39)	L124Q	probably damaging	Het
Obscn	C	T	11: 59,013,445 (GRCm39)		probably null	Het
P4ha2	G	A	11: 54,017,238 (GRCm39)		probably null	Het
Pcdha9	T	A	18: 37,132,164 (GRCm39)	V411D	probably benign	Het
Pkhd1l1	A	T	15: 44,389,384 (GRCm39)	I1380F	probably damaging	Het
Plekha1	T	C	7: 130,493,983 (GRCm39)	V106A	probably benign	Het
Plekhm1	A	T	11: 103,267,517 (GRCm39)	V818E	possibly damaging	Het
Pprc1	T	G	19: 46,053,809 (GRCm39)		probably benign	Het
Prb1c	A	G	6: 132,339,036 (GRCm39)	S61P	unknown	Het
Prmt9	T	C	8: 78,287,647 (GRCm39)		probably benign	Het
Rab26	T	C	17: 24,749,373 (GRCm39)	N193D	possibly damaging	Het
Rnf111	A	G	9: 70,336,862 (GRCm39)	S942P	probably damaging	Het
Scgb2b18	T	C	7: 32,872,650 (GRCm39)	T52A	probably damaging	Het
Syt3	C	T	7: 44,042,187 (GRCm39)	Q349*	probably null	Het
Tas2r107	T	C	6: 131,636,743 (GRCm39)	N102S	probably benign	Het
Tas2r126	T	A	6: 42,411,934 (GRCm39)	Y156N	possibly damaging	Het
Tcaf2	A	T	6: 42,619,712 (GRCm39)	I105N	probably benign	Het
Tet1	A	C	10: 62,715,552 (GRCm39)	M81R	probably benign	Het
Togaram2	T	C	17: 72,036,200 (GRCm39)	Y897H	probably damaging	Het
Trerf1	A	T	17: 47,625,197 (GRCm39)		noncoding transcript	Het
Ttn	G	A	2: 76,591,579 (GRCm39)	T12703I	probably damaging	Het
Unc79	A	G	12: 103,091,885 (GRCm39)	K1735E	possibly damaging	Het
Usp54	G	A	14: 20,633,419 (GRCm39)	T372I	possibly damaging	Het
Wdr24	T	C	17: 26,046,102 (GRCm39)	S476P	probably benign	Het
Zbtb1	T	C	12: 76,433,049 (GRCm39)	I345T	possibly damaging	Het
Zcrb1	T	A	15: 93,293,496 (GRCm39)	I29L	probably benign	Het
Zfp341	T	A	2: 154,472,361 (GRCm39)	C315S	probably damaging	Het
Zfp623	C	A	15: 75,820,012 (GRCm39)	R323S	probably benign	Het
Zfp831	T	A	2: 174,485,885 (GRCm39)	Y187N	possibly damaging	Het

Other mutations in Cckbr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- TACAGTCCTCAAGTGAGCTGAAG -3'
(R):5'- GTGGGTACATGAATGACTAGTTTAG -3'

Sequencing Primer
(F):5'- ATATCATCTCTGATTCAGTCTGCAAC -3'
(R):5'- GCAGGACATGTCATACAG -3'

Posted On

2017-03-31