Mutagenetix > Incidental Mutation

Incidental Mutation 'R8825:Crtc2'

673370

Institutional Source

Beutler Lab

Gene Symbol

Crtc2

Ensembl Gene

ENSMUSG00000027936

Gene Name

CREB regulated transcription coactivator 2

Synonyms

4632407F12Rik

MMRRC Submission

068728-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.352) question?

Stock #

R8825 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90161475-90171432 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90166463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 146 (M146K)

Ref Sequence

ENSEMBL: ENSMUSP00000029545 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029545] [ENSMUST00000184882]

AlphaFold

Q3U182

Predicted Effect

probably benign
Transcript: ENSMUST00000029545
AA Change: M146K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029545
Gene: ENSMUSG00000027936
AA Change: M146K

Domain	Start	End	E-Value	Type
Pfam:TORC_N	18	72	1.8e-20	PFAM
low complexity region	127	141	N/A	INTRINSIC
Pfam:TORC_M	168	323	3.7e-71	PFAM
low complexity region	335	384	N/A	INTRINSIC
low complexity region	391	416	N/A	INTRINSIC
low complexity region	432	439	N/A	INTRINSIC
low complexity region	484	494	N/A	INTRINSIC
low complexity region	517	528	N/A	INTRINSIC
Pfam:TORC_C	614	691	4.3e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184882
AA Change: M61K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139194
Gene: ENSMUSG00000027936
AA Change: M61K

Domain	Start	End	E-Value	Type
low complexity region	42	56	N/A	INTRINSIC
Pfam:TORC_M	83	239	6.5e-65	PFAM
low complexity region	250	299	N/A	INTRINSIC
low complexity region	306	331	N/A	INTRINSIC
low complexity region	347	354	N/A	INTRINSIC
low complexity region	399	409	N/A	INTRINSIC
low complexity region	432	443	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the transducers of regulated cAMP response element-binding protein activity family of transcription coactivators. These proteins promote the transcription of genes targeted by the cAMP response element-binding protein, and therefore play an important role in many cellular processes. Under basal conditions the encoded protein is phosphorylated by AMP-activated protein kinase or the salt-inducible kinases and is sequestered in the cytoplasm. Upon activation by elevated cAMP or calcium, the encoded protein translocates to the nucleus and increases target gene expression. Single nucleotide polymorphisms in this gene may increase the risk of type 2 diabetes. A pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased circulating corticosterone levels, hepatocyte secretion of glucose in response to glucagon, and glycogen levels in liver and muscle cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgap2	T	A	2: 91,103,906 (GRCm39)	L334Q	probably damaging	Het
Arhgef18	T	A	8: 3,436,951 (GRCm39)	L247Q	probably damaging	Het
Birc6	T	A	17: 74,920,500 (GRCm39)	C2100S	probably damaging	Het
Bpi	A	G	2: 158,109,670 (GRCm39)	D206G	probably benign	Het
C6	T	C	15: 4,761,170 (GRCm39)	I10T	possibly damaging	Het
Cactin	A	G	10: 81,161,492 (GRCm39)	T675A	probably damaging	Het
Cd200	G	A	16: 45,215,157 (GRCm39)	R165C	probably benign	Het
Cdkal1	C	T	13: 29,538,777 (GRCm39)	V461I	probably benign	Het
Ces2g	C	T	8: 105,693,954 (GRCm39)	S430F	probably benign	Het
Clcn3	A	T	8: 61,382,522 (GRCm39)	H382Q	probably damaging	Het
Crem	A	T	18: 3,268,061 (GRCm39)	V89E	probably damaging	Het
Depdc1b	T	G	13: 108,521,316 (GRCm39)	D374E	possibly damaging	Het
Dgkg	T	A	16: 22,381,519 (GRCm39)	H477L	probably benign	Het
Dnhd1	T	A	7: 105,343,174 (GRCm39)	V1506D	possibly damaging	Het
Erfl	A	G	7: 24,628,682 (GRCm39)	V60A	possibly damaging	Het
Exosc10	G	A	4: 148,653,159 (GRCm39)		probably null	Het
Fem1al	T	C	11: 29,773,696 (GRCm39)	E587G	probably benign	Het
Flnb	G	T	14: 7,887,566 (GRCm38)	G459C	probably damaging	Het
Golgb1	A	G	16: 36,739,809 (GRCm39)	D2757G	probably benign	Het
Gsta4	T	G	9: 78,116,121 (GRCm39)		probably benign	Het
Herc2	T	A	7: 55,700,626 (GRCm39)	M1K	probably null	Het
Hip1	C	T	5: 135,450,976 (GRCm39)	V879M	probably damaging	Het
Htt	T	C	5: 34,983,304 (GRCm39)	Y968H	probably benign	Het
Ints11	T	A	4: 155,969,587 (GRCm39)	Y154*	probably null	Het
Itih5	A	G	2: 10,195,231 (GRCm39)	S208G	probably benign	Het
Lamb2	C	T	9: 108,362,460 (GRCm39)	T701I	probably benign	Het
Lgals3	T	A	14: 47,617,557 (GRCm39)	Y22*	probably null	Het
Macc1	T	A	12: 119,409,587 (GRCm39)	D118E	probably benign	Het
Mad2l2	T	C	4: 148,225,277 (GRCm39)	L9P	probably damaging	Het
Mark2	T	C	19: 7,318,571 (GRCm39)	T6A	probably benign	Het
Mcat	T	C	15: 83,436,812 (GRCm39)	N143S	probably benign	Het
Med10	T	G	13: 69,962,046 (GRCm39)	C144G	unknown	Het
Miga1	A	T	3: 151,982,460 (GRCm39)	F539I	probably damaging	Het
Mon2	A	T	10: 122,849,776 (GRCm39)	S1174T	probably benign	Het
Mycbp2	C	A	14: 103,466,871 (GRCm39)	W1330C	probably damaging	Het
Myo5b	T	C	18: 74,892,169 (GRCm39)	S1612P	possibly damaging	Het
Nipal4	T	C	11: 46,052,873 (GRCm39)	I31V	probably benign	Het
Obox3	A	T	7: 15,361,226 (GRCm39)	V13E	possibly damaging	Het
Or2ag19	A	T	7: 106,444,636 (GRCm39)	I273F	probably damaging	Het
Or8g4	T	C	9: 39,661,994 (GRCm39)	F104S	probably damaging	Het
Ppic	A	G	18: 53,542,222 (GRCm39)	V162A	probably damaging	Het
Prkg2	T	C	5: 99,090,043 (GRCm39)	K699R	probably benign	Het
Prl2c2	T	A	13: 13,179,656 (GRCm39)	L6F	possibly damaging	Het
Rnf148	G	C	6: 23,654,378 (GRCm39)	S206C	probably benign	Het
Sec16a	A	G	2: 26,313,586 (GRCm39)	S474P		Het
Sema5a	T	G	15: 32,689,498 (GRCm39)	H1054Q	probably benign	Het
Slc6a18	C	A	13: 73,813,751 (GRCm39)	V521F	probably null	Het
Stat2	T	A	10: 128,127,233 (GRCm39)	D921E	possibly damaging	Het
Tcf24	G	T	1: 10,031,224 (GRCm39)	N42K	unknown	Het
Tgfb2	T	A	1: 186,361,136 (GRCm39)	N372Y	probably damaging	Het
Tktl2	A	C	8: 66,966,319 (GRCm39)	M626L	possibly damaging	Het
Tmem94	A	G	11: 115,688,201 (GRCm39)	D1220G	probably benign	Het
Trcg1	A	G	9: 57,148,754 (GRCm39)	T109A	probably benign	Het
Trim30a	T	A	7: 104,060,529 (GRCm39)	K416*	probably null	Het
Trpm5	T	C	7: 142,636,753 (GRCm39)	K395E	possibly damaging	Het
Ufm1	T	A	3: 53,771,093 (GRCm39)		probably null	Het
Unc13b	T	A	4: 43,237,683 (GRCm39)		probably benign	Het
Vmn2r16	T	C	5: 109,487,019 (GRCm39)	V80A	probably benign	Het
Vmn2r77	A	T	7: 86,452,855 (GRCm39)	Y524F	probably benign	Het
Zfp1007	T	G	5: 109,826,746 (GRCm39)	T5P	probably damaging	Het
Zfp64	T	C	2: 168,793,552 (GRCm39)	S65G	probably benign	Het
Zng1	A	G	19: 24,926,601 (GRCm39)	V150A	probably benign	Het

Other mutations in Crtc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00946:Crtc2	APN	3	90,168,112 (GRCm39)	missense	probably damaging	0.98
IGL01874:Crtc2	APN	3	90,165,815 (GRCm39)	missense	probably damaging	1.00
IGL02220:Crtc2	APN	3	90,166,455 (GRCm39)	splice site	probably benign
IGL02454:Crtc2	APN	3	90,166,474 (GRCm39)	missense	probably benign	0.00
IGL02957:Crtc2	APN	3	90,169,840 (GRCm39)	missense	probably damaging	1.00
R0190:Crtc2	UTSW	3	90,166,716 (GRCm39)	missense	probably damaging	1.00
R0492:Crtc2	UTSW	3	90,170,804 (GRCm39)	missense	probably damaging	0.99
R0707:Crtc2	UTSW	3	90,170,804 (GRCm39)	missense	probably damaging	0.99
R0751:Crtc2	UTSW	3	90,169,940 (GRCm39)	nonsense	probably null
R1184:Crtc2	UTSW	3	90,169,940 (GRCm39)	nonsense	probably null
R1521:Crtc2	UTSW	3	90,164,690 (GRCm39)	missense	probably benign	0.10
R3856:Crtc2	UTSW	3	90,169,877 (GRCm39)	missense	probably damaging	1.00
R4283:Crtc2	UTSW	3	90,166,543 (GRCm39)	splice site	probably benign
R4747:Crtc2	UTSW	3	90,167,518 (GRCm39)	missense	probably damaging	1.00
R5293:Crtc2	UTSW	3	90,170,871 (GRCm39)	missense	probably benign
R5302:Crtc2	UTSW	3	90,168,325 (GRCm39)	missense	probably damaging	1.00
R5314:Crtc2	UTSW	3	90,168,348 (GRCm39)	nonsense	probably null
R6170:Crtc2	UTSW	3	90,166,907 (GRCm39)	missense	probably benign
R6887:Crtc2	UTSW	3	90,168,378 (GRCm39)	missense	probably damaging	0.99
R7067:Crtc2	UTSW	3	90,167,489 (GRCm39)	missense	probably benign	0.44
R7506:Crtc2	UTSW	3	90,166,519 (GRCm39)	missense	probably damaging	1.00
R8169:Crtc2	UTSW	3	90,170,883 (GRCm39)	missense	probably damaging	1.00
R8559:Crtc2	UTSW	3	90,170,904 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TTCAGCTTGTCTTGGCAGAGAG -3'
(R):5'- TGCCTGGCAGTGGAATATTC -3'

Sequencing Primer
(F):5'- CCAGATCTCTTAGATTGAGCAGG -3'
(R):5'- CTGGCAGTGGAATATTCAAACTGGTC -3'

Posted On

2021-07-15