Mutagenetix > Incidental Mutation

Incidental Mutation 'R7194:Cckbr'

559786

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

MMRRC Submission

045335-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R7194 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105075201-105085546 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 105084552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 429 (E429K)

Ref Sequence

ENSEMBL: ENSMUSP00000033189 (fasta)

Gene Model

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

AlphaFold

P56481

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033189
AA Change: E429K

PolyPhen 2 Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000033189
Gene: ENSMUSG00000030898
AA Change: E429K

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 benign
Transcript: ENSMUST00000181339

SMART Domains

Protein: ENSMUSP00000138052
Gene: ENSMUSG00000030898

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	A	G	8: 60,979,656 (GRCm39)	I173V	probably benign	Het
Abi3bp	C	T	16: 56,382,734 (GRCm39)	R115C	probably damaging	Het
Adam18	A	G	8: 25,141,868 (GRCm39)	S234P	possibly damaging	Het
Adam20	A	G	8: 41,249,449 (GRCm39)	R520G	probably benign	Het
Angel2	C	G	1: 190,677,194 (GRCm39)	T514R	probably damaging	Het
Ankar	A	T	1: 72,698,192 (GRCm39)	I954N	probably benign	Het
Ankrd7	A	T	6: 18,879,342 (GRCm39)	Y262F	probably benign	Het
Ano8	C	A	8: 71,935,007 (GRCm39)	L398F	possibly damaging	Het
App	C	T	16: 84,822,319 (GRCm39)	V356I	probably benign	Het
Atp1a2	C	A	1: 172,108,194 (GRCm39)	E636*	probably null	Het
Cfi	T	G	3: 129,648,708 (GRCm39)	S197R	probably damaging	Het
Chn2	A	G	6: 54,263,162 (GRCm39)		probably null	Het
Col3a1	C	A	1: 45,370,860 (GRCm39)	A405D	unknown	Het
Colec12	A	T	18: 9,848,248 (GRCm39)	N142I	probably benign	Het
Copa	T	C	1: 171,947,511 (GRCm39)	L1109P	probably damaging	Het
Cpeb3	T	A	19: 37,152,152 (GRCm39)	M75L	probably benign	Het
Cyp2d11	T	C	15: 82,275,969 (GRCm39)	Y204C	probably benign	Het
Defa17	A	G	8: 22,146,613 (GRCm39)	T80A	probably benign	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dppa5a	C	T	9: 78,275,002 (GRCm39)		probably null	Het
Fat4	G	T	3: 38,943,033 (GRCm39)	S642I	probably damaging	Het
Fat4	T	A	3: 39,038,044 (GRCm39)	C3899S	probably damaging	Het
Fn1	A	G	1: 71,641,482 (GRCm39)	V1869A	probably damaging	Het
Gm10308	A	T	17: 91,396,389 (GRCm39)	I104L	unknown	Het
Gpr139	C	T	7: 118,743,896 (GRCm39)	A230T	possibly damaging	Het
Grm8	T	C	6: 27,618,486 (GRCm39)	N452S	probably benign	Het
Hmox1	T	C	8: 75,823,551 (GRCm39)	V73A	probably benign	Het
Hspa4	A	G	11: 53,156,765 (GRCm39)	F641L	probably damaging	Het
Ifi207	T	G	1: 173,557,490 (GRCm39)	H416P	possibly damaging	Het
Igkv10-96	G	T	6: 68,609,028 (GRCm39)	T89K	possibly damaging	Het
Kmt2d	A	C	15: 98,741,714 (GRCm39)	V4482G	unknown	Het
Krt28	T	A	11: 99,265,230 (GRCm39)	K146*	probably null	Het
Krt82	T	C	15: 101,451,191 (GRCm39)	N406S	probably damaging	Het
Marveld3	A	T	8: 110,686,477 (GRCm39)		probably null	Het
Mllt6	C	T	11: 97,564,394 (GRCm39)	S370L	probably benign	Het
Muc16	A	G	9: 18,585,750 (GRCm39)	L26S	unknown	Het
Mup12	T	A	4: 60,696,734 (GRCm39)	E48V	probably benign	Het
Myh1	G	A	11: 67,102,183 (GRCm39)	V825I	probably benign	Het
Nipal3	G	A	4: 135,201,732 (GRCm39)	T152I	probably benign	Het
Nrg3	A	T	14: 39,194,435 (GRCm39)	M108K	probably benign	Het
Nup50l	T	G	6: 96,141,756 (GRCm39)	E429D	probably benign	Het
Oog3	A	T	4: 143,889,169 (GRCm39)	I3N	probably damaging	Het
Or10d4c	G	A	9: 39,558,387 (GRCm39)	V122I	probably benign	Het
Pira13	A	G	7: 3,827,792 (GRCm39)	W122R		Het
Pkhd1l1	T	C	15: 44,392,512 (GRCm39)	C1616R	probably damaging	Het
Ppa2	T	A	3: 133,053,953 (GRCm39)		probably null	Het
Ppfibp2	T	A	7: 107,322,187 (GRCm39)		probably null	Het
Ppp4c	T	C	7: 126,385,653 (GRCm39)	N229D	probably damaging	Het
Ptpn9	T	C	9: 56,929,570 (GRCm39)	F96L	probably damaging	Het
Pygl	A	G	12: 70,241,094 (GRCm39)	V742A	probably benign	Het
Ranbp2	A	G	10: 58,312,591 (GRCm39)	T1104A	probably benign	Het
Rasal1	G	A	5: 120,813,557 (GRCm39)	A644T	probably benign	Het
Rcor3	T	A	1: 191,810,261 (GRCm39)	T139S	possibly damaging	Het
Rfx5	T	A	3: 94,862,454 (GRCm39)	I37N	probably damaging	Het
Rnf112	C	T	11: 61,341,683 (GRCm39)	G374R	probably damaging	Het
Rrp12	T	C	19: 41,859,979 (GRCm39)	I1034V	probably benign	Het
Sacs	T	A	14: 61,447,538 (GRCm39)	Y3195N	possibly damaging	Het
Scn4a	A	G	11: 106,215,062 (GRCm39)	I1243T	probably benign	Het
Sirt7	A	T	11: 120,509,799 (GRCm39)	C362S	probably benign	Het
Slc17a6	T	A	7: 51,276,640 (GRCm39)	S130T	probably damaging	Het
Snrnp48	A	C	13: 38,393,875 (GRCm39)	Y60S	probably damaging	Het
Syne1	T	C	10: 5,060,859 (GRCm39)	E7260G	probably damaging	Het
Trbv15	C	T	6: 41,118,529 (GRCm39)	T95I	probably benign	Het
Trip12	A	T	1: 84,771,943 (GRCm39)	N68K	probably benign	Het
Ugcg	A	G	4: 59,213,210 (GRCm39)	Y132C	probably damaging	Het
Usp9y	A	T	Y: 1,304,672 (GRCm39)	C2391S	probably damaging	Het
Vmn1r103	C	A	7: 20,244,438 (GRCm39)	V8L	probably benign	Het
Vmn2r15	T	A	5: 109,440,649 (GRCm39)	N403I	probably damaging	Het
Zbtb11	T	C	16: 55,827,551 (GRCm39)	S1006P	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
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
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
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'- TGTTGGCTGCCAGTGTACAG -3'
(R):5'- TACCACCTGAATTAATCCCGG -3'

Sequencing Primer
(F):5'- TGTACAGCGCCAACACGTG -3'
(R):5'- ACCACCTGAATTAATCCCGGATTTTG -3'

Posted On

2019-06-26