Mutagenetix > Incidental Mutation

Incidental Mutation 'R3890:Cckbr'

310336

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

040802-MU

Accession Numbers

Essential gene?

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

Stock #

R3890 (G1)

Quality Score

160

Status

Validated

Chromosome

Chromosomal Location

105075201-105085546 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 105075376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 49 (T49P)

Ref Sequence

ENSEMBL: ENSMUSP00000033189 (fasta)

Gene Model

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

AlphaFold

P56481

Predicted Effect

probably benign
Transcript: ENSMUST00000033189
AA Change: T49P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000033189
Gene: ENSMUSG00000030898
AA Change: T49P

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
AA Change: T49P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000138052
Gene: ENSMUSG00000030898
AA Change: T49P

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

0.2356

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (60/61)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,604,700 (GRCm39)	Y201C	probably damaging	Het
Adam10	A	G	9: 70,676,136 (GRCm39)	T624A	probably benign	Het
Atf2	T	C	2: 73,693,557 (GRCm39)	S2G	probably damaging	Het
Atf7ip	T	C	6: 136,564,043 (GRCm39)	V762A	possibly damaging	Het
Cacna1e	C	T	1: 154,359,299 (GRCm39)	R265Q	probably damaging	Het
Clip2	T	C	5: 134,551,847 (GRCm39)	K92E	probably damaging	Het
Clrn3	T	C	7: 135,120,194 (GRCm39)	T131A	possibly damaging	Het
Cntrl	T	G	2: 35,060,492 (GRCm39)	C1342G	probably benign	Het
Def8	T	C	8: 124,185,083 (GRCm39)		probably benign	Het
Dennd4a	T	C	9: 64,779,310 (GRCm39)	S598P	probably damaging	Het
Deup1	A	G	9: 15,511,009 (GRCm39)	Y257H	probably damaging	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Ect2	T	C	3: 27,192,689 (GRCm39)	D387G	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fmo4	A	T	1: 162,621,624 (GRCm39)	I529N	probably benign	Het
Frs3	A	G	17: 48,014,360 (GRCm39)	D351G	probably damaging	Het
Gcat	T	A	15: 78,921,376 (GRCm39)	V378D	probably damaging	Het
Hmcn1	A	T	1: 150,510,946 (GRCm39)	D3592E	probably damaging	Het
Hspa4l	A	T	3: 40,736,026 (GRCm39)	Q570L	possibly damaging	Het
Ifi213	A	G	1: 173,394,822 (GRCm39)	I571T	probably benign	Het
Lsamp	T	C	16: 39,805,054 (GRCm39)	V11A	probably benign	Het
Mettl1	T	C	10: 126,880,998 (GRCm39)		probably null	Het
Mettl15	A	G	2: 109,021,924 (GRCm39)	I127T	probably benign	Het
Mipep	T	C	14: 61,046,444 (GRCm39)	L322P	probably damaging	Het
Mob1b	T	A	5: 88,901,061 (GRCm39)	I156K	probably damaging	Het
Mobp	G	A	9: 119,997,022 (GRCm39)	C51Y	probably damaging	Het
Ms4a3	T	C	19: 11,610,271 (GRCm39)	N97S	probably benign	Het
Myrip	A	G	9: 120,251,324 (GRCm39)	E210G	probably damaging	Het
Nos1ap	T	C	1: 170,177,025 (GRCm39)	Y126C	probably damaging	Het
Nuak2	G	T	1: 132,259,223 (GRCm39)	A342S	possibly damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or10ah1-ps1	G	T	5: 143,123,152 (GRCm39)	S290R	probably benign	Het
Or2aj5	A	G	16: 19,425,205 (GRCm39)	I71T	probably damaging	Het
Or7e165	T	G	9: 19,695,011 (GRCm39)	I194S	probably benign	Het
Pdgfra	A	G	5: 75,328,588 (GRCm39)	N240S	probably null	Het
Pdxdc1	T	C	16: 13,654,312 (GRCm39)	T759A	probably benign	Het
Pex2	C	T	3: 5,626,008 (GRCm39)	C267Y	probably damaging	Het
Pgghg	T	C	7: 140,525,616 (GRCm39)	I473T	probably damaging	Het
Prdm15	T	C	16: 97,600,771 (GRCm39)	H829R	probably damaging	Het
Pum1	T	C	4: 130,491,393 (GRCm39)	L774P	probably damaging	Het
Rcbtb1	T	A	14: 59,465,804 (GRCm39)	H382Q	possibly damaging	Het
Rprd2	A	T	3: 95,672,536 (GRCm39)	F956I	probably damaging	Het
Samd1	G	A	8: 84,724,361 (GRCm39)		probably benign	Het
Slc4a11	A	T	2: 130,527,705 (GRCm39)	S592T	probably damaging	Het
Slc5a4b	A	G	10: 75,898,094 (GRCm39)	V540A	probably benign	Het
Slfn8	G	A	11: 82,895,270 (GRCm39)	T512I	possibly damaging	Het
Slx4	A	T	16: 3,797,773 (GRCm39)	I1537N	probably damaging	Het
Sorl1	G	A	9: 41,915,401 (GRCm39)	T1276M	probably damaging	Het
Specc1	C	T	11: 62,042,739 (GRCm39)	T872M	probably benign	Het
Speer4f1	T	C	5: 17,684,500 (GRCm39)	I176T	probably damaging	Het
Spint1	T	C	2: 119,079,283 (GRCm39)	I455T	probably benign	Het
Srp54a	A	G	12: 55,135,978 (GRCm39)		probably null	Het
Stoml3	T	A	3: 53,414,875 (GRCm39)	N222K	probably damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tanc2	A	T	11: 105,689,504 (GRCm39)	D222V	probably damaging	Het
Tasor2	T	C	13: 3,646,785 (GRCm39)	E80G	probably damaging	Het
Thsd7a	G	A	6: 12,418,336 (GRCm39)	S631L	probably benign	Het
Vmn2r73	G	A	7: 85,507,144 (GRCm39)	H723Y	probably benign	Het
Wdfy4	T	C	14: 32,769,237 (GRCm39)	E2076G	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
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

Predicted Primers

PCR Primer
(F):5'- TGAGTGGGACTTCACAGGAG -3'
(R):5'- ATCTAGGTAGCTAATGGCAGGG -3'

Sequencing Primer
(F):5'- ACTTCACAGGAGCCATGGATCTG -3'
(R):5'- CTCTGAAGCATGGTGTGAAGG -3'

Posted On

2015-04-17