Mutagenetix > Incidental Mutation

Incidental Mutation 'RF039:Cckbr'

604715

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: 0.073) question?

Stock #

RF039 (G1)

Quality Score

139.457

Status

Not validated

Chromosome

Chromosomal Location

105075201-105085546 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

GCA to G at 105083893 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000033189 (fasta)

Gene Model

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

AlphaFold

P56481

Predicted Effect

probably null
Transcript: ENSMUST00000033189

SMART Domains

Protein: ENSMUSP00000033189
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	396	4.1e-59	PFAM
low complexity region	409	434	N/A	INTRINSIC

Predicted Effect

probably null
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: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	GCATCCTGGGCTGCT	GCATCCTGGGCTGCTTCATCCTGGGCTGCT	4: 155,989,549 (GRCm39)		probably benign	Het
Ankhd1	GGCGGC	GGCGGCTGCGGC	18: 36,693,971 (GRCm39)		probably benign	Het
Camkv	CGCTGCTGC	CGC	9: 107,825,059 (GRCm39)		probably benign	Het
Cd276	G	A	9: 58,442,787 (GRCm39)	R223C	probably damaging	Het
Cdx1	CTGCTG	CTGCTGATGCTG	18: 61,152,942 (GRCm39)		probably benign	Het
Cul9	CCT	CCTTCT	17: 46,811,780 (GRCm39)		probably benign	Het
Dcdc2b	GCTGC	GCTGCCAGGTCTGC	4: 129,503,444 (GRCm39)		probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Eml6	CTAAAAAAACAAAACA	C	11: 29,702,551 (GRCm39)		probably benign	Het
Eps8	C	CTCAT	6: 137,494,068 (GRCm39)		probably null	Het
Exd2	CACAGCCA	C	12: 80,522,715 (GRCm39)		probably null	Het
Gab3	TTC	TTCGTC	X: 74,043,610 (GRCm39)		probably benign	Het
Gm10718	ATTTTCAGTTTCCTCGCCATATTCCAGGTCCTACAGTGTGCATTTCTCATTTTTCACGTTTTTCAGT	ATTTTCAGT	9: 3,024,385 (GRCm39)		probably null	Het
Gm8369	GTGTGT	GTGTGTTTGTGT	19: 11,489,122 (GRCm39)		probably benign	Het
Gm8369	GTG	GTGTTTTTG	19: 11,489,146 (GRCm39)		probably benign	Het
Igf1r	GG	GGTGATGGAGCTTG	7: 67,875,924 (GRCm39)		probably benign	Het
Il2	GG	GGGCTTGTTGTGTG	3: 37,179,991 (GRCm39)		probably benign	Het
Kif12	GGC	GGCCTCCAACCGGCCAGC	4: 63,089,662 (GRCm39)		probably benign	Het
L1td1	AGGAGGAGGAGGAGGAGGAGGAGGGGGAGGAGGAG	AGGAGGAGGAG	4: 98,625,026 (GRCm39)		probably benign	Het
Lrch1	CGTGGTGCTGGTGGTGTTGGTGGTGTTGGTGGTGCTGGTGG	CGTGGTGTTGGTGGTGTTGGTGGTGCTGGTGG	14: 75,184,989 (GRCm39)		probably benign	Het
Lypd8	ACCAATCACCAAC	ACCAATCACCAACTGTTCCCTCGCCTCTGTTTCCCCCCCAATCACCAAC	11: 58,281,057 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,432 (GRCm39)		probably benign	Het
Mamld1	CAG	CAGAAG	X: 70,162,446 (GRCm39)		probably benign	Het
Map1a	CCAGC	CCAGCCCCAGCTCCAGCTCCAGCTCCAGCTACAGC	2: 121,136,785 (GRCm39)		probably benign	Het
Mast4	CCTCGGGGACAAGCTGTGAGTTGGGGAAC	CC	13: 102,875,749 (GRCm39)		probably benign	Het
Nalf2	CCG	CCGCCGGCG	X: 98,864,978 (GRCm39)		probably benign	Het
Nefh	AGCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	AGCTGGGGACTTGGCCTCAGCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,007 (GRCm39)		probably benign	Het
Or4k41	G	A	2: 111,279,896 (GRCm39)	G137D	not run	Het
Pdcd11	GGAGGAGA	G	19: 47,101,894 (GRCm39)		probably null	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,712,167 (GRCm39)		probably benign	Het
Pnma8a	CAACATC	CAACATCTCATGATGCACCTGCTTTAACATC	7: 16,695,369 (GRCm39)		probably benign	Het
Prp2	AGGCCCACAGCAGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	AGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	6: 132,577,464 (GRCm39)		probably benign	Het
Prr5l	GCCTC	G	2: 101,627,918 (GRCm39)		probably null	Het
Rassf6	TCATGGTCCTGTAGAGCAATGGGGATTC	TCATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACGCATGGTCCTGTAGAGCAATGGGGATTC	5: 90,756,774 (GRCm39)		probably benign	Het
Rassf6	ATTC	ATTCTGCCTCACTCATGTTCCTGTAGAGCAATGGGGTTTC	5: 90,756,798 (GRCm39)		probably benign	Het
Slc39a4	GTC	GTCATCATGATCACCATGGTCCCCATGATCACTGTGCTC	15: 76,499,070 (GRCm39)		probably benign	Het
Slc39a4	TC	TCATCGTGATCACCATGGTCACCATGATCACTGTGGAC	15: 76,499,071 (GRCm39)		probably benign	Het
Speer4a3	CTTT	C	5: 26,155,857 (GRCm39)		probably benign	Het
Spmap2l	GCGATCCTCCCCAGTCCCGCAAGGCCA	GCGATCCTCCCCAGGCCCGCAAGGCCACCGATCCTCCCCAGTCCCGCAAGGCCA	5: 77,164,249 (GRCm39)		probably benign	Het
Strn	TTACCCC	TTACCCCTGGCCGTGCTCCCTTACCCCAGTCCGTGCGCCCGTACCCC	17: 78,984,707 (GRCm39)		probably null	Het
Tbc1d12	CGGAGGAGG	CGG	19: 38,825,401 (GRCm39)		probably benign	Het
Tent4a	GACA	G	13: 69,681,973 (GRCm39)		probably benign	Het
Tfeb	CAG	CAGAAG	17: 48,097,020 (GRCm39)		probably benign	Het
Tfeb	CAG	CAGTAG	17: 48,097,035 (GRCm39)		probably null	Het
Thbs1	TGACCTTAG	TG	2: 117,953,346 (GRCm39)		probably benign	Het
Tmprss13	ATCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC	ATCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC	9: 45,239,762 (GRCm39)		probably benign	Het
Triobp	CCCCAGGACTCCCTGTGCCCAACGG	CCCCAGGACTCCCTGTGCCCAACGGAACAAACCCAGGACTCCCTGTGCCCAACGG	15: 78,851,236 (GRCm39)		probably benign	Het
Triobp	CAGGACTCCCTGTGCCCAACGG	CAGGACTCCCTGTGCCCAACGGAACAACCCAAGGACTCCCTGTGCCCAACGG	15: 78,851,239 (GRCm39)		probably benign	Het
Ufl1	C	T	4: 25,280,628 (GRCm39)	R73Q	possibly damaging	Het
Yipf3	AGAGGA	AGA	17: 46,559,898 (GRCm39)		probably benign	Het
Zc3h4	TGACATGCACCCTGACATGCACCCAGACATGCACCCCGACATGCACCCTGACATGCACCCCGACATGCACCCCGACATGCACCCTGACATGCA	TGACATGCACCCTGACATGCACCCCGACATGCACCCCGACATGCACCCTGACATGCA	7: 16,163,543 (GRCm39)		probably benign	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
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
RF062:Cckbr	UTSW	7	105,083,894 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CAGGTCCGTGCTTCTGCTAATAC -3'
(R):5'- AGCAGCCATCACTGTCTTCC -3'

Sequencing Primer
(F):5'- GTGCTTCTGCTAATACTGCTG -3'
(R):5'- AGTCAGGCTGGTCACATGC -3'

Posted On

2019-12-04