Mutagenetix > Incidental Mutation

Incidental Mutation 'R8790:Cckar'

670859

Institutional Source

Beutler Lab

Gene Symbol

Cckar

Ensembl Gene

ENSMUSG00000029193

Gene Name

cholecystokinin A receptor

Synonyms

MMRRC Submission

068634-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R8790 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53855827-53865046 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53857291 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 373 (V373A)

Ref Sequence

ENSEMBL: ENSMUSP00000031093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031093] [ENSMUST00000200691]

AlphaFold

O08786

Predicted Effect

probably damaging
Transcript: ENSMUST00000031093
AA Change: V373A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031093
Gene: ENSMUSG00000029193
AA Change: V373A

Domain	Start	End	E-Value	Type
Pfam:CholecysA-Rec_N	1	47	8.8e-29	PFAM
Pfam:7tm_4	48	252	7.2e-12	PFAM
Pfam:7TM_GPCR_Srsx	52	393	2.6e-10	PFAM
Pfam:7tm_1	58	378	1.1e-66	PFAM
low complexity region	399	416	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000200691
AA Change: V302A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144103
Gene: ENSMUSG00000029193
AA Change: V302A

Domain	Start	End	E-Value	Type
Pfam:7tm_1	1	307	1.6e-59	PFAM
Pfam:7tm_4	3	181	1.8e-6	PFAM
low complexity region	328	345	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (83/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G-protein coupled receptor that binds non-sulfated members of the cholecystokinin (CCK) family of peptide hormones. This receptor is a major physiologic mediator of pancreatic enzyme secretion and smooth muscle contraction of the gallbladder and stomach. In the central and peripheral nervous system this receptor regulates satiety and the release of beta-endorphin and dopamine. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice cannot regulate core body temperature in response to changes in ambient temperature. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	G	A	10: 78,928,285 (GRCm39)	P68S	possibly damaging	Het
Abcb5	T	A	12: 118,831,620 (GRCm39)	N1244I	possibly damaging	Het
Abcb9	A	G	5: 124,215,304 (GRCm39)	I479T	probably damaging	Het
Abi3bp	A	T	16: 56,495,437 (GRCm39)	I920F	probably damaging	Het
Adcy6	T	A	15: 98,496,881 (GRCm39)	T465S	probably damaging	Het
Ankrd12	A	T	17: 66,290,153 (GRCm39)	I1760N	possibly damaging	Het
Aoah	C	T	13: 21,035,840 (GRCm39)	R140C	probably benign	Het
Bmp7	T	A	2: 172,712,060 (GRCm39)	D388V	probably benign	Het
Bphl	C	T	13: 34,244,468 (GRCm39)	A195V	probably benign	Het
Cd79b	T	G	11: 106,202,873 (GRCm39)	D243A	possibly damaging	Het
Cdc25a	T	A	9: 109,716,416 (GRCm39)		probably null	Het
Cfap57	T	A	4: 118,439,111 (GRCm39)	Q805L	possibly damaging	Het
Ckap2l	A	T	2: 129,111,172 (GRCm39)	M675K	possibly damaging	Het
Cluap1	T	A	16: 3,735,787 (GRCm39)		probably benign	Het
Cyp2b9	A	G	7: 25,898,167 (GRCm39)		probably benign	Het
D930020B18Rik	G	A	10: 121,503,568 (GRCm39)	G248S	possibly damaging	Het
Ddx1	A	T	12: 13,273,993 (GRCm39)	I570N	probably damaging	Het
Dmkn	G	A	7: 30,463,449 (GRCm39)	S34N	probably benign	Het
Dnaaf2	T	C	12: 69,244,068 (GRCm39)	D331G	probably damaging	Het
Dnah1	A	T	14: 31,018,232 (GRCm39)	Y1429N	possibly damaging	Het
Dnajc5b	T	A	3: 19,600,981 (GRCm39)	L26Q	probably damaging	Het
Epb41l1	T	G	2: 156,345,722 (GRCm39)	F242V	possibly damaging	Het
Esam	A	T	9: 37,442,927 (GRCm39)	I72F	probably benign	Het
Fam110a	C	T	2: 151,812,338 (GRCm39)	R144H	probably damaging	Het
Fam186a	T	C	15: 99,841,024 (GRCm39)	D1740G	possibly damaging	Het
Fam98a	A	G	17: 75,854,684 (GRCm39)	F42L	possibly damaging	Het
Fras1	C	T	5: 96,903,236 (GRCm39)	P3038S	probably damaging	Het
Gm32742	C	A	9: 51,059,140 (GRCm39)	G1035C	probably damaging	Het
Irf5	T	A	6: 29,535,026 (GRCm39)		probably benign	Het
Jam2	T	A	16: 84,606,259 (GRCm39)	I91K	possibly damaging	Het
Klhdc3	A	G	17: 46,991,626 (GRCm39)		probably benign	Het
Lgi1	C	T	19: 38,289,296 (GRCm39)	S215F	possibly damaging	Het
Lrp1	G	A	10: 127,374,946 (GRCm39)	T4504I	probably damaging	Het
Mafa	T	A	15: 75,619,224 (GRCm39)	H183L	probably benign	Het
Map2	T	C	1: 66,477,997 (GRCm39)	V1773A	probably damaging	Het
Mesp1	G	A	7: 79,442,825 (GRCm39)	R151*	probably null	Het
Mphosph9	T	C	5: 124,453,736 (GRCm39)	D192G	probably damaging	Het
Mthfr	C	A	4: 148,139,991 (GRCm39)	D678E	probably benign	Het
Myo15a	A	C	11: 60,367,362 (GRCm39)	T41P	possibly damaging	Het
Myo15a	G	T	11: 60,378,047 (GRCm39)	R185L		Het
Myom2	T	G	8: 15,169,242 (GRCm39)	L1136W	probably damaging	Het
Naa30	A	G	14: 49,418,208 (GRCm39)	D316G	probably benign	Het
Ngef	T	C	1: 87,405,319 (GRCm39)	Q697R	probably benign	Het
Nin	T	C	12: 70,067,793 (GRCm39)	R1945G		Het
Obox8	A	T	7: 14,066,908 (GRCm39)	Y45*	probably null	Het
Ocln	C	T	13: 100,642,727 (GRCm39)	V452I	probably benign	Het
Oog3	T	A	4: 143,885,710 (GRCm39)	D296V	possibly damaging	Het
Or5a1	T	C	19: 12,097,906 (GRCm39)	N57D	probably damaging	Het
Or5h19	T	C	16: 58,856,580 (GRCm39)	I173M	possibly damaging	Het
Or8g4	T	A	9: 39,662,204 (GRCm39)	I174K	probably damaging	Het
Or8k35	T	C	2: 86,424,278 (GRCm39)	K298R	possibly damaging	Het
Papln	T	C	12: 83,823,918 (GRCm39)	V499A	probably benign	Het
Paxip1	G	T	5: 27,977,078 (GRCm39)	P328Q	unknown	Het
Pcnx2	T	C	8: 126,604,306 (GRCm39)	H650R	probably benign	Het
Pcnx3	A	T	19: 5,735,206 (GRCm39)	V540E	possibly damaging	Het
Pnpla5	C	T	15: 84,002,819 (GRCm39)	G255R	probably damaging	Het
Ppdpf	G	T	2: 180,829,646 (GRCm39)	E34*	probably null	Het
Pum3	T	C	19: 27,394,199 (GRCm39)	Y357C	probably damaging	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Rasa3	A	T	8: 13,727,391 (GRCm39)		probably null	Het
Rcor2	T	A	19: 7,246,340 (GRCm39)	M5K	possibly damaging	Het
Rere	A	G	4: 150,593,332 (GRCm39)	T309A	unknown	Het
Ryr1	A	T	7: 28,776,297 (GRCm39)	I2250N	probably damaging	Het
Sema6c	T	C	3: 95,075,341 (GRCm39)	V130A	probably benign	Het
Slc26a9	T	A	1: 131,683,155 (GRCm39)	S200T	probably damaging	Het
Slc38a10	A	G	11: 120,023,519 (GRCm39)	L299P	possibly damaging	Het
Smim10l1	G	T	6: 133,084,848 (GRCm39)	V72L	unknown	Het
Sptbn2	C	A	19: 4,782,052 (GRCm39)	F430L	probably damaging	Het
Svep1	T	A	4: 58,118,145 (GRCm39)	Y859F	possibly damaging	Het
Svil	C	A	18: 5,056,098 (GRCm39)	Q324K	possibly damaging	Het
Tgfb1i1	A	T	7: 127,852,049 (GRCm39)	D377V	probably damaging	Het
Tmed10	C	A	12: 85,390,254 (GRCm39)	W203L	probably damaging	Het
Tmem51	T	A	4: 141,765,056 (GRCm39)	M1L	possibly damaging	Het
Tmprss11e	A	G	5: 86,855,259 (GRCm39)	V382A	probably benign	Het
Tnfrsf13b	G	T	11: 61,038,350 (GRCm39)	R211L	possibly damaging	Het
Tns3	A	G	11: 8,468,273 (GRCm39)	V317A	probably damaging	Het
Top3a	G	A	11: 60,631,363 (GRCm39)	P1000S	possibly damaging	Het
Traj32	A	T	14: 54,423,587 (GRCm39)	I10F		Het
Trav8-1	T	A	14: 53,707,677 (GRCm39)	C106S	probably damaging	Het
Trbv2	A	G	6: 41,024,655 (GRCm39)	I24V	probably benign	Het
Ubap2	A	G	4: 41,209,351 (GRCm39)		probably null	Het
Vmn2r97	T	A	17: 19,160,472 (GRCm39)	C536S	probably damaging	Het
Zfp879	G	T	11: 50,723,429 (GRCm39)	C542*	probably null	Het
Znfx1	C	T	2: 166,892,500 (GRCm39)		probably benign	Het

Other mutations in Cckar

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Cckar	APN	5	53,857,171 (GRCm39)	missense	possibly damaging	0.86
IGL00568:Cckar	APN	5	53,864,643 (GRCm39)	missense	probably benign	0.02
IGL00766:Cckar	APN	5	53,857,378 (GRCm39)	missense	probably damaging	0.99
IGL00960:Cckar	APN	5	53,858,634 (GRCm39)	missense	probably damaging	1.00
IGL02424:Cckar	APN	5	53,863,770 (GRCm39)	missense	possibly damaging	0.63
IGL03002:Cckar	APN	5	53,860,247 (GRCm39)	missense	probably damaging	0.99
R0167:Cckar	UTSW	5	53,863,795 (GRCm39)	missense	probably damaging	1.00
R0302:Cckar	UTSW	5	53,857,641 (GRCm39)	frame shift	probably null
R0366:Cckar	UTSW	5	53,857,507 (GRCm39)	missense	probably benign	0.01
R0391:Cckar	UTSW	5	53,863,595 (GRCm39)	critical splice donor site	probably null
R0981:Cckar	UTSW	5	53,863,632 (GRCm39)	missense	probably damaging	1.00
R1619:Cckar	UTSW	5	53,857,409 (GRCm39)	missense	probably damaging	1.00
R1644:Cckar	UTSW	5	53,857,215 (GRCm39)	missense	probably benign
R1779:Cckar	UTSW	5	53,857,321 (GRCm39)	missense	probably damaging	1.00
R2184:Cckar	UTSW	5	53,860,254 (GRCm39)	missense	probably damaging	0.96
R4290:Cckar	UTSW	5	53,863,839 (GRCm39)	missense	probably benign
R4291:Cckar	UTSW	5	53,863,839 (GRCm39)	missense	probably benign
R4292:Cckar	UTSW	5	53,863,839 (GRCm39)	missense	probably benign
R4294:Cckar	UTSW	5	53,863,839 (GRCm39)	missense	probably benign
R4518:Cckar	UTSW	5	53,857,264 (GRCm39)	missense	probably damaging	1.00
R4583:Cckar	UTSW	5	53,857,124 (GRCm39)	missense	probably benign	0.01
R5139:Cckar	UTSW	5	53,860,265 (GRCm39)	missense	probably benign	0.00
R5505:Cckar	UTSW	5	53,860,410 (GRCm39)	missense	probably damaging	1.00
R6207:Cckar	UTSW	5	53,857,186 (GRCm39)	missense	probably benign
R6415:Cckar	UTSW	5	53,860,398 (GRCm39)	missense	probably damaging	1.00
R7127:Cckar	UTSW	5	53,863,817 (GRCm39)	missense	probably damaging	1.00
R7372:Cckar	UTSW	5	53,864,624 (GRCm39)	missense	probably damaging	0.99
R7966:Cckar	UTSW	5	53,858,580 (GRCm39)	missense	possibly damaging	0.65
R8897:Cckar	UTSW	5	53,864,583 (GRCm39)	start gained	probably benign
R9010:Cckar	UTSW	5	53,857,163 (GRCm39)	missense	probably damaging	1.00
R9054:Cckar	UTSW	5	53,860,424 (GRCm39)	missense	probably damaging	1.00
R9205:Cckar	UTSW	5	53,864,587 (GRCm39)	critical splice donor site	probably null
R9396:Cckar	UTSW	5	53,864,623 (GRCm39)	missense	probably damaging	1.00
R9646:Cckar	UTSW	5	53,863,608 (GRCm39)	missense	probably benign	0.01
R9656:Cckar	UTSW	5	53,857,318 (GRCm39)	missense	probably damaging	0.99
R9709:Cckar	UTSW	5	53,860,201 (GRCm39)	critical splice donor site	probably null
X0028:Cckar	UTSW	5	53,864,616 (GRCm39)	missense	probably benign	0.01
X0028:Cckar	UTSW	5	53,864,615 (GRCm39)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- TCATGTGGCTGTAGGAATACC -3'
(R):5'- GCAGTGGTGGCAGAATCAAC -3'

Sequencing Primer
(F):5'- TGGCTGTAGGAATACCGGGAC -3'
(R):5'- AGTGGTTCTGCTGCCAAC -3'

Posted On

2021-04-30