Mutagenetix > Incidental Mutation

Incidental Mutation 'R0707:Crtc2'

218349

Institutional Source

Beutler Lab

Gene Symbol

Crtc2

Ensembl Gene

ENSMUSG00000027936

Gene Name

CREB regulated transcription coactivator 2

Synonyms

4632407F12Rik

MMRRC Submission

038890-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.279) question?

Stock #

R0707 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

90161475-90171432 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90170804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 626 (F626I)

Ref Sequence

ENSEMBL: ENSMUSP00000029545 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029545] [ENSMUST00000098914] [ENSMUST00000129564] [ENSMUST00000184882]

AlphaFold

Q3U182

Predicted Effect

probably damaging
Transcript: ENSMUST00000029545
AA Change: F626I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029545
Gene: ENSMUSG00000027936
AA Change: F626I

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: ENSMUST00000098914

SMART Domains

Protein: ENSMUSP00000096514
Gene: ENSMUSG00000042404

Domain	Start	End	E-Value	Type
low complexity region	8	15	N/A	INTRINSIC
low complexity region	43	57	N/A	INTRINSIC
uDENN	183	290	1.15e-29	SMART
DENN	324	508	5.26e-70	SMART
dDENN	573	647	1.75e-25	SMART
low complexity region	672	690	N/A	INTRINSIC
low complexity region	740	752	N/A	INTRINSIC
coiled coil region	902	928	N/A	INTRINSIC
low complexity region	1022	1038	N/A	INTRINSIC
low complexity region	1086	1096	N/A	INTRINSIC
low complexity region	1114	1127	N/A	INTRINSIC
low complexity region	1131	1148	N/A	INTRINSIC
low complexity region	1338	1350	N/A	INTRINSIC
low complexity region	1424	1439	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123964

Predicted Effect

probably benign
Transcript: ENSMUST00000129564

SMART Domains

Protein: ENSMUSP00000117354
Gene: ENSMUSG00000042404

Domain	Start	End	E-Value	Type
low complexity region	32	46	N/A	INTRINSIC
uDENN	172	279	1.15e-29	SMART
DENN	313	497	5.26e-70	SMART
dDENN	562	636	1.75e-25	SMART
low complexity region	661	679	N/A	INTRINSIC
low complexity region	729	741	N/A	INTRINSIC
coiled coil region	891	917	N/A	INTRINSIC
low complexity region	1011	1027	N/A	INTRINSIC
low complexity region	1075	1085	N/A	INTRINSIC
low complexity region	1103	1116	N/A	INTRINSIC
low complexity region	1120	1137	N/A	INTRINSIC
low complexity region	1327	1339	N/A	INTRINSIC
low complexity region	1413	1428	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130002

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135002

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149897

Predicted Effect

probably benign
Transcript: ENSMUST00000184882

SMART Domains

Protein: ENSMUSP00000139194
Gene: ENSMUSG00000027936

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

Predicted Effect

probably benign
Transcript: ENSMUST00000156358

SMART Domains

Protein: ENSMUSP00000118483
Gene: ENSMUSG00000042404

Domain	Start	End	E-Value	Type
low complexity region	24	38	N/A	INTRINSIC
Blast:uDENN	39	97	9e-6	BLAST
Blast:uDENN	164	207	1e-22	BLAST

Meta Mutation Damage Score

0.0862

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (74/74)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	A	G	4: 106,617,329 (GRCm39)	F259S	probably damaging	Het
Aldh16a1	T	A	7: 44,793,931 (GRCm39)		probably benign	Het
Ankrd24	A	T	10: 81,478,547 (GRCm39)		probably benign	Het
Arhgap5	T	C	12: 52,564,951 (GRCm39)	S641P	probably damaging	Het
Arpp21	A	C	9: 111,986,824 (GRCm39)	S242R	probably benign	Het
Bpifb5	A	G	2: 154,070,820 (GRCm39)	T204A	probably benign	Het
Bud31	A	G	5: 145,083,265 (GRCm39)	Y77C	probably damaging	Het
Ccdc65	G	A	15: 98,607,095 (GRCm39)	V101I	possibly damaging	Het
Ccr7	T	A	11: 99,036,809 (GRCm39)	T38S	probably damaging	Het
Cdc14a	T	C	3: 116,087,362 (GRCm39)		probably benign	Het
Ces2f	C	T	8: 105,677,618 (GRCm39)	H208Y	possibly damaging	Het
Chst1	C	A	2: 92,443,964 (GRCm39)	N145K	possibly damaging	Het
Clock	A	G	5: 76,374,976 (GRCm39)	V731A	possibly damaging	Het
Cog6	C	T	3: 52,921,283 (GRCm39)	V108I	possibly damaging	Het
Cplane1	T	A	15: 8,287,805 (GRCm39)	N2881K	unknown	Het
Dicer1	A	T	12: 104,673,144 (GRCm39)	F792I	probably damaging	Het
Dnajc13	T	C	9: 104,049,781 (GRCm39)	K1780R	probably benign	Het
Dph5	A	C	3: 115,708,782 (GRCm39)	N155H	probably benign	Het
Dscam	T	C	16: 96,626,982 (GRCm39)		probably null	Het
Etl4	C	A	2: 20,810,382 (GRCm39)		probably benign	Het
Flt3l	T	C	7: 44,785,450 (GRCm39)	S9G	probably benign	Het
Fmnl2	A	G	2: 52,944,498 (GRCm39)	E159G	possibly damaging	Het
Fryl	A	G	5: 73,240,715 (GRCm39)	I1295T	probably benign	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Gatad2b	T	A	3: 90,263,489 (GRCm39)	S529T	probably benign	Het
Herc6	G	A	6: 57,639,347 (GRCm39)	G905E	possibly damaging	Het
Hhip	T	A	8: 80,724,884 (GRCm39)	N296I	probably damaging	Het
Hmgcr	A	T	13: 96,787,151 (GRCm39)		probably benign	Het
Kalrn	T	G	16: 33,830,951 (GRCm39)	N723H	possibly damaging	Het
Mroh5	T	A	15: 73,662,588 (GRCm39)	Y242F	possibly damaging	Het
Msh3	T	A	13: 92,483,848 (GRCm39)	K258*	probably null	Het
Myo1a	T	C	10: 127,555,732 (GRCm39)		probably benign	Het
Nlrp4f	C	T	13: 65,342,317 (GRCm39)	E443K	probably benign	Het
Nupr2	A	G	5: 129,937,533 (GRCm39)	Y34C	probably damaging	Het
Ociad1	T	C	5: 73,452,255 (GRCm39)		probably benign	Het
Or1af1	A	T	2: 37,110,208 (GRCm39)	K236*	probably null	Het
Or5af2	T	A	11: 58,708,577 (GRCm39)	L248M	probably damaging	Het
Or5b3	A	T	19: 13,388,784 (GRCm39)	M284L	probably benign	Het
Or5p5	A	G	7: 107,414,331 (GRCm39)	D182G	probably damaging	Het
Or6ae1	T	C	7: 139,742,002 (GRCm39)	N287S	probably damaging	Het
P2ry12	C	A	3: 59,124,908 (GRCm39)	V256F	probably damaging	Het
Pcdhb22	T	A	18: 37,651,904 (GRCm39)	I124N	probably damaging	Het
Pcnt	A	G	10: 76,256,375 (GRCm39)	F622L	probably damaging	Het
Pfas	A	T	11: 68,888,863 (GRCm39)	N361K	probably benign	Het
Plod2	T	G	9: 92,487,480 (GRCm39)	L600V	possibly damaging	Het
Pole	T	C	5: 110,446,854 (GRCm39)	Y631H	probably damaging	Het
Proser1	T	C	3: 53,386,197 (GRCm39)	L693P	probably damaging	Het
Ptprd	A	G	4: 75,875,476 (GRCm39)	Y1195H	probably damaging	Het
Rbm27	T	A	18: 42,459,091 (GRCm39)		probably null	Het
Ric8a	A	G	7: 140,437,886 (GRCm39)		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rimkla	C	T	4: 119,335,177 (GRCm39)	V69M	probably damaging	Het
Scfd1	A	T	12: 51,459,360 (GRCm39)	K307M	probably damaging	Het
Sh2b2	A	G	5: 136,261,117 (GRCm39)	F33S	probably damaging	Het
Smg7	T	G	1: 152,746,508 (GRCm39)		probably null	Het
Srebf1	T	C	11: 60,094,942 (GRCm39)	T486A	probably benign	Het
Strn3	G	A	12: 51,657,187 (GRCm39)	T642I	probably damaging	Het
Syne2	T	C	12: 76,028,837 (GRCm39)		probably null	Het
Syne3	A	G	12: 104,935,619 (GRCm39)	L53P	probably damaging	Het
Tcea1	T	A	1: 4,950,569 (GRCm39)		probably benign	Het
Tmem30b	T	C	12: 73,592,942 (GRCm39)	N58D	probably benign	Het
Tnpo1	A	G	13: 98,991,954 (GRCm39)	Y641H	probably damaging	Het
Trim25	A	T	11: 88,890,564 (GRCm39)	T84S	probably benign	Het
Trip4	A	T	9: 65,746,286 (GRCm39)	F537I	possibly damaging	Het
Uaca	G	A	9: 60,755,900 (GRCm39)		probably benign	Het
Ugt2b34	T	A	5: 87,040,758 (GRCm39)	Y388F	possibly damaging	Het
Vmn2r71	T	C	7: 85,268,640 (GRCm39)	V281A	probably benign	Het
Vps13d	A	T	4: 144,882,502 (GRCm39)	D1030E	probably damaging	Het
Vps8	C	A	16: 21,261,107 (GRCm39)	F82L	probably damaging	Het
Zfp296	A	G	7: 19,313,661 (GRCm39)	D172G	probably benign	Het
Zfp977	C	A	7: 42,229,958 (GRCm39)	C189F	probably damaging	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
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
R8825:Crtc2	UTSW	3	90,166,463 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCAATTCAACATGGAGAGCCCATC -3'
(R):5'- TACGGAATGAGTCCTCCACAGCAG -3'

Sequencing Primer
(F):5'- ATCAATGAGTGGCCCCCAG -3'
(R):5'- TCCACAGCAGGGTCAGG -3'

Posted On

2014-08-01