Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02219:Cckbr'

285069

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02219

Quality Score

Status

Chromosome

Chromosomal Location

105075201-105085546 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105083255 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 153 (Y153N)

Ref Sequence

ENSEMBL: ENSMUSP00000138052 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033189] [ENSMUST00000181339]

AlphaFold

P56481

Predicted Effect

probably damaging
Transcript: ENSMUST00000033189
AA Change: Y153N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033189
Gene: ENSMUSG00000030898
AA Change: Y153N

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	396	4.1e-59	PFAM
low complexity region	409	434	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000181339
AA Change: Y153N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138052
Gene: ENSMUSG00000030898
AA Change: Y153N

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

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730013G03Rik	A	T	1: 192,515,691 (GRCm39)		noncoding transcript	Het
Abcb10	G	A	8: 124,681,166 (GRCm39)	H677Y	probably benign	Het
Ager	T	C	17: 34,819,094 (GRCm39)	V314A	probably damaging	Het
Asxl3	A	G	18: 22,586,683 (GRCm39)	M158V	possibly damaging	Het
Atp1a2	G	A	1: 172,107,298 (GRCm39)	Q741*	probably null	Het
Atp1a2	A	T	1: 172,107,285 (GRCm39)	M745K	probably damaging	Het
Begain	A	G	12: 108,999,656 (GRCm39)	S577P	probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Camk2b	A	G	11: 5,926,872 (GRCm39)	L497P	possibly damaging	Het
Cand2	T	A	6: 115,780,773 (GRCm39)	I1219N	probably damaging	Het
Cep250	T	G	2: 155,833,514 (GRCm39)	V1812G	probably benign	Het
Cyp2c39	A	T	19: 39,556,643 (GRCm39)		probably benign	Het
Ddx43	T	A	9: 78,324,001 (GRCm39)	M444K	probably damaging	Het
Dnm1	A	T	2: 32,213,462 (GRCm39)	M506K	probably benign	Het
Duox2	A	T	2: 122,125,145 (GRCm39)	H352Q	probably benign	Het
Fcgbpl1	T	C	7: 27,854,060 (GRCm39)	Y1675H	probably damaging	Het
Fsip2	A	G	2: 82,808,174 (GRCm39)	T1498A	probably benign	Het
Gcn1	A	T	5: 115,751,826 (GRCm39)	Q2067L	possibly damaging	Het
Get4	G	T	5: 139,249,384 (GRCm39)		probably null	Het
Gm6370	G	A	5: 146,430,453 (GRCm39)	A213T	possibly damaging	Het
Gpr135	T	C	12: 72,117,047 (GRCm39)	Y240C	probably damaging	Het
Gstm5	T	A	3: 107,805,347 (GRCm39)	L145Q	probably damaging	Het
Hoxb3	T	C	11: 96,236,986 (GRCm39)	Y355H	probably damaging	Het
Hsf2	A	C	10: 57,372,370 (GRCm39)	K108Q	probably damaging	Het
Kdm3a	T	C	6: 71,577,718 (GRCm39)	N694S	probably benign	Het
Lrpap1	G	A	5: 35,253,411 (GRCm39)		probably benign	Het
Mapk8ip3	T	C	17: 25,118,532 (GRCm39)	T1162A	probably damaging	Het
Mettl14	T	C	3: 123,168,540 (GRCm39)		probably benign	Het
Mrgprx1	T	C	7: 47,671,477 (GRCm39)	Y90C	probably benign	Het
Mybpc3	A	T	2: 90,951,368 (GRCm39)		probably null	Het
Nup88	C	T	11: 70,860,518 (GRCm39)	G87D	probably benign	Het
Or5w20	A	G	2: 87,727,317 (GRCm39)	Y258C	possibly damaging	Het
Or7d9	A	T	9: 20,197,756 (GRCm39)	T254S	probably benign	Het
Or9i1	C	T	19: 13,839,187 (GRCm39)	T10M	probably damaging	Het
Pan2	G	A	10: 128,156,221 (GRCm39)	E1133K	probably benign	Het
Pcsk2	T	C	2: 143,635,045 (GRCm39)	S307P	probably damaging	Het
Pdgfa	C	T	5: 138,971,950 (GRCm39)	V150I	probably damaging	Het
Phf12	T	C	11: 77,875,022 (GRCm39)	C83R	probably damaging	Het
Pla2g2c	A	G	4: 138,463,319 (GRCm39)	Y71C	probably damaging	Het
Pou2f2	T	A	7: 24,797,107 (GRCm39)	Q218L	probably damaging	Het
Prl8a9	C	T	13: 27,743,353 (GRCm39)	V151I	possibly damaging	Het
Prop1	T	C	11: 50,842,911 (GRCm39)	D92G	probably damaging	Het
Rnf13	A	G	3: 57,703,644 (GRCm39)	Y116C	probably damaging	Het
Ro60	A	G	1: 143,637,013 (GRCm39)	C400R	possibly damaging	Het
Scrib	T	A	15: 75,936,885 (GRCm39)	K383*	probably null	Het
Slc44a5	T	C	3: 153,944,796 (GRCm39)	Y138H	possibly damaging	Het
Stra6	G	A	9: 58,047,752 (GRCm39)	V108M	probably benign	Het
Tspan10	G	T	11: 120,337,198 (GRCm39)	A323S	probably benign	Het
Ttc22	T	A	4: 106,495,687 (GRCm39)	V347D	probably damaging	Het
Ugt1a10	C	T	1: 87,983,780 (GRCm39)	L193F	probably benign	Het
Vps13d	G	T	4: 144,894,716 (GRCm39)	H457N	probably benign	Het
Vrtn	A	G	12: 84,695,607 (GRCm39)	Y119C	probably damaging	Het
Xpnpep3	T	C	15: 81,311,657 (GRCm39)	F121S	probably 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
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
RF062:Cckbr	UTSW	7	105,083,894 (GRCm39)	frame shift	probably null

Posted On

2015-04-16