Mutagenetix > Incidental Mutation

Incidental Mutation 'R5314:Crtc2'

405727

Institutional Source

Beutler Lab

Gene Symbol

Crtc2

Ensembl Gene

ENSMUSG00000027936

Gene Name

CREB regulated transcription coactivator 2

Synonyms

4632407F12Rik

MMRRC Submission

042897-MU

Accession Numbers

Essential gene?

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

Stock #

R5314 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90161475-90171432 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 90168348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 364 (Q364*)

Ref Sequence

ENSEMBL: ENSMUSP00000139194 (fasta)

Gene Model

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

AlphaFold

Q3U182

Predicted Effect

probably null
Transcript: ENSMUST00000029545
AA Change: Q449*

SMART Domains

Protein: ENSMUSP00000029545
Gene: ENSMUSG00000027936
AA Change: Q449*

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

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

probably null
Transcript: ENSMUST00000184882
AA Change: Q364*

SMART Domains

Protein: ENSMUSP00000139194
Gene: ENSMUSG00000027936
AA Change: Q364*

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

noncoding transcript
Transcript: ENSMUST00000149897

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	T	C	3: 121,473,172 (GRCm39)	F109S	unknown	Het
Ankhd1	A	T	18: 36,694,111 (GRCm39)		probably null	Het
Atp8a1	C	T	5: 67,863,248 (GRCm39)		probably null	Het
Ccdc136	G	T	6: 29,417,497 (GRCm39)	V707F	probably benign	Het
Ccdc157	A	T	11: 4,100,078 (GRCm39)	C91*	probably null	Het
Ceacam3	T	A	7: 16,892,296 (GRCm39)	N346K	possibly damaging	Het
Cfap251	A	G	5: 123,460,626 (GRCm39)	D1196G	probably benign	Het
Chd4	A	G	6: 125,077,551 (GRCm39)	E74G	probably damaging	Het
Cntn1	A	G	15: 92,192,892 (GRCm39)	M665V	probably benign	Het
Csf1r	T	A	18: 61,262,796 (GRCm39)	I857N	probably damaging	Het
Dner	C	T	1: 84,558,460 (GRCm39)	G168D	probably damaging	Het
Edar	T	C	10: 58,443,182 (GRCm39)	T315A	probably benign	Het
Egflam	A	G	15: 7,333,493 (GRCm39)	V153A	probably damaging	Het
Enoph1	T	C	5: 100,211,682 (GRCm39)	I193T	possibly damaging	Het
Epc1	A	G	18: 6,462,969 (GRCm39)	I9T	probably damaging	Het
Fbxw18	T	A	9: 109,522,246 (GRCm39)	I208F	possibly damaging	Het
Gm4841	A	G	18: 60,403,364 (GRCm39)	V243A	probably benign	Het
Herc2	T	C	7: 55,869,534 (GRCm39)	V4297A	probably damaging	Het
Itsn2	C	T	12: 4,677,960 (GRCm39)	P106S	probably benign	Het
Kcnu1	A	G	8: 26,352,486 (GRCm39)	T218A	probably damaging	Het
Kif1a	A	G	1: 92,946,220 (GRCm39)	S1677P	probably damaging	Het
Krt14	A	T	11: 100,095,526 (GRCm39)	M293K	probably damaging	Het
Meis3	T	A	7: 15,917,989 (GRCm39)	V307E	probably damaging	Het
Nadk2	A	C	15: 9,108,401 (GRCm39)	I417L	probably benign	Het
Nav2	AAGCAGCAGCAGCAGCAGCAGCAGCA	AAGCAGCAGCAGCAGCAGCAGCA	7: 49,058,440 (GRCm39)		probably benign	Het
Neb	A	T	2: 52,171,515 (GRCm39)	N1659K	probably benign	Het
Nhsl3	T	C	4: 129,118,005 (GRCm39)	T208A	possibly damaging	Het
Or10w1	T	C	19: 13,632,630 (GRCm39)	V274A	probably benign	Het
Or8g32	T	C	9: 39,305,785 (GRCm39)	S233P	probably damaging	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Pde3b	A	T	7: 114,093,772 (GRCm39)	N339Y	probably damaging	Het
Pde8b	A	G	13: 95,223,361 (GRCm39)	F298L	possibly damaging	Het
Phtf1	G	A	3: 103,906,603 (GRCm39)	R606H	probably damaging	Het
Psd4	A	G	2: 24,290,528 (GRCm39)	D535G	possibly damaging	Het
Rad51ap1	A	G	6: 126,905,121 (GRCm39)	V130A	probably damaging	Het
Rbm11	T	C	16: 75,393,474 (GRCm39)	F57L	probably damaging	Het
Rprd2	A	G	3: 95,671,401 (GRCm39)	V1334A	possibly damaging	Het
Satb2	T	C	1: 56,870,686 (GRCm39)	E433G	probably damaging	Het
Sema6b	G	A	17: 56,435,413 (GRCm39)	R277*	probably null	Het
Sepsecs	A	T	5: 52,805,015 (GRCm39)	S349T	probably benign	Het
Slc35b2	T	C	17: 45,877,424 (GRCm39)	Y184H	probably damaging	Het
Slc7a2	T	C	8: 41,368,067 (GRCm39)		probably null	Het
Smc1b	T	A	15: 84,955,066 (GRCm39)	Y1062F	probably benign	Het
Snrnp70	G	A	7: 45,026,476 (GRCm39)	R298*	probably null	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Taar8c	A	T	10: 23,977,246 (GRCm39)	C189S	probably damaging	Het
Tas1r2	T	A	4: 139,382,672 (GRCm39)	D103E	probably damaging	Het
Timd2	T	C	11: 46,568,087 (GRCm39)	I236V	probably benign	Het
Tmem87a	A	G	2: 120,208,407 (GRCm39)	V316A	probably damaging	Het
Treml2	T	A	17: 48,607,601 (GRCm39)	L16Q	probably damaging	Het
Zcchc14	G	A	8: 122,335,337 (GRCm39)		probably benign	Het
Zfp462	T	C	4: 55,013,178 (GRCm39)	Y567H	probably damaging	Het
Zfp551	G	A	7: 12,150,087 (GRCm39)	R441*	probably null	Het
Zfp930	A	G	8: 69,679,373 (GRCm39)	I59M	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
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'- TAGTCACCCATCACTGCCTG -3'
(R):5'- ATGCCCGATGCCGAATACTC -3'

Sequencing Primer
(F):5'- TGGCCCACCATGCACTG -3'
(R):5'- CCGATGCCGAATACTCAGTGTATG -3'

Posted On

2016-07-22