Mutagenetix > Incidental Mutation

Incidental Mutation 'R8169:Crtc2'

633940

Institutional Source

Beutler Lab

Gene Symbol

Crtc2

Ensembl Gene

ENSMUSG00000027936

Gene Name

CREB regulated transcription coactivator 2

Synonyms

4632407F12Rik

MMRRC Submission

067595-MU

Accession Numbers

Essential gene?

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

Stock #

R8169 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90161475-90171432 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 90170883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Alanine at position 652 (G652A)

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: G652A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029545
Gene: ENSMUSG00000027936
AA Change: G652A

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

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

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (80/81)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	C	A	5: 139,349,812 (GRCm39)	G79V	probably damaging	Het
4930562C15Rik	T	A	16: 4,684,082 (GRCm39)	Y226N	probably benign	Het
Arhgap45	G	A	10: 79,863,706 (GRCm39)	A819T	probably damaging	Het
Bach1	G	A	16: 87,519,390 (GRCm39)	C560Y	possibly damaging	Het
Capn13	T	A	17: 73,633,467 (GRCm39)		probably null	Het
Casq2	G	T	3: 102,017,628 (GRCm39)	A103S	possibly damaging	Het
Cfap100	A	G	6: 90,394,656 (GRCm39)	F57S		Het
Clca3a2	A	T	3: 144,783,653 (GRCm39)	L654Q	probably damaging	Het
Cntnap5c	T	A	17: 58,411,765 (GRCm39)		probably null	Het
Cplane2	A	G	4: 140,945,530 (GRCm39)	H127R	probably damaging	Het
Csnk1g2	A	G	10: 80,475,636 (GRCm39)	D401G	probably damaging	Het
Dars1	T	C	1: 128,304,002 (GRCm39)	N242D	probably null	Het
Dnah10	T	C	5: 124,877,946 (GRCm39)	L2677P	probably damaging	Het
Dnal1	G	A	12: 84,171,330 (GRCm39)	A3T	probably benign	Het
Dpep2	C	T	8: 106,722,849 (GRCm39)	V60I		Het
Eeig1	T	C	2: 32,453,760 (GRCm39)	I203T	probably benign	Het
Ehmt2	T	A	17: 35,122,339 (GRCm39)	I302N	probably benign	Het
Eif3a	C	T	19: 60,750,628 (GRCm39)	R1309Q	unknown	Het
Eno4	T	A	19: 58,935,084 (GRCm39)	Y100N	probably benign	Het
Ephx2	A	T	14: 66,349,602 (GRCm39)		probably null	Het
Fbxw14	A	T	9: 109,106,284 (GRCm39)	I251K	probably benign	Het
Fcgbp	T	C	7: 27,784,919 (GRCm39)		probably null	Het
Foxm1	A	C	6: 128,348,671 (GRCm39)		probably null	Het
Fscn3	T	A	6: 28,430,328 (GRCm39)	I166N	possibly damaging	Het
Gdpd4	G	T	7: 97,621,335 (GRCm39)	V193L	probably benign	Het
Gnpat	T	G	8: 125,606,869 (GRCm39)	C352G	probably benign	Het
H2-Q7	T	A	17: 35,658,910 (GRCm39)	Y120*	probably null	Het
Klri1	G	A	6: 129,694,070 (GRCm39)	R6C	probably benign	Het
Kmo	T	C	1: 175,476,729 (GRCm39)	V154A	probably benign	Het
Kmt2c	A	G	5: 25,559,685 (GRCm39)	L1031P	probably damaging	Het
Lrrc14b	T	G	13: 74,511,286 (GRCm39)	T265P	possibly damaging	Het
Lrrc2	C	T	9: 110,809,954 (GRCm39)	T330I	probably benign	Het
Lyn	T	A	4: 3,783,050 (GRCm39)	S428T	probably damaging	Het
Lypd10	T	A	7: 24,412,000 (GRCm39)	M60K	probably benign	Het
Mfsd8	T	A	3: 40,791,550 (GRCm39)	M59L	probably benign	Het
Mok	T	A	12: 110,774,799 (GRCm39)	Q341L	probably benign	Het
Muc21	T	C	17: 35,932,072 (GRCm39)	T705A	unknown	Het
Myh3	C	A	11: 66,979,856 (GRCm39)	N598K	probably benign	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nlrp4e	A	G	7: 23,019,931 (GRCm39)	I139M	probably benign	Het
Or11g25	T	C	14: 50,723,692 (GRCm39)	V259A	probably benign	Het
Or3a10	T	A	11: 73,935,707 (GRCm39)	Q131L	possibly damaging	Het
Or4b13	G	A	2: 90,082,442 (GRCm39)	R297*	probably null	Het
Or51g2	A	G	7: 102,622,545 (GRCm39)	L218P	probably damaging	Het
Or52n2b	A	T	7: 104,565,619 (GRCm39)	Y295N	possibly damaging	Het
Osbpl7	G	A	11: 96,945,676 (GRCm39)	S312N	probably damaging	Het
Paxip1	A	G	5: 27,977,093 (GRCm39)	L323P	unknown	Het
Pcdh18	T	A	3: 49,699,684 (GRCm39)	H926L	probably damaging	Het
Pcm1	T	G	8: 41,763,153 (GRCm39)	S1460R	possibly damaging	Het
Pdha2	A	G	3: 140,917,155 (GRCm39)	S118P	possibly damaging	Het
Pdss1	A	T	2: 22,791,824 (GRCm39)	Y86F	probably benign	Het
Ppargc1a	A	T	5: 51,631,026 (GRCm39)	D534E	probably benign	Het
Prune2	A	G	19: 17,102,455 (GRCm39)	K2538R	probably benign	Het
Ptprq	A	T	10: 107,418,351 (GRCm39)	I1675N	probably damaging	Het
Rgma	C	T	7: 73,025,630 (GRCm39)	P3L	probably benign	Het
Ros1	A	G	10: 51,940,768 (GRCm39)		probably null	Het
Sema4g	C	T	19: 44,987,410 (GRCm39)	R519W	probably damaging	Het
Serpinc1	T	A	1: 160,820,971 (GRCm39)	F139L	probably damaging	Het
Slc22a29	A	G	19: 8,184,696 (GRCm39)	I198T	probably damaging	Het
Slc4a5	T	C	6: 83,280,373 (GRCm39)	V1007A	probably benign	Het
Sptbn1	T	C	11: 30,147,783 (GRCm39)	Y17C	possibly damaging	Het
Tex261	C	A	6: 83,751,999 (GRCm39)		probably null	Het
Timmdc1	T	A	16: 38,331,148 (GRCm39)	T128S	probably benign	Het
Tmem120b	C	A	5: 123,237,999 (GRCm39)	Y96*	probably null	Het
Tmem196	T	A	12: 119,982,311 (GRCm39)	F182I	possibly damaging	Het
Tnxb	G	A	17: 34,918,181 (GRCm39)	V2365M	possibly damaging	Het
Tph1	T	C	7: 46,303,233 (GRCm39)		silent	Het
Trmt9b	A	T	8: 36,978,857 (GRCm39)	K153N	probably damaging	Het
Trpc1	G	A	9: 95,592,323 (GRCm39)	Q551*	probably null	Het
Tubgcp3	T	C	8: 12,666,099 (GRCm39)	N828D	probably benign	Het
Unc13a	C	A	8: 72,108,933 (GRCm39)	G478W	probably damaging	Het
Usp15	T	A	10: 122,961,798 (GRCm39)	T627S		Het
Vmn1r115	A	T	7: 20,578,144 (GRCm39)	I256N	probably damaging	Het
Vmn2r6	T	A	3: 64,447,310 (GRCm39)	K585N	probably benign	Het
Vsir	G	T	10: 60,194,047 (GRCm39)		probably null	Het
Xirp2	A	G	2: 67,343,543 (GRCm39)	D1928G	probably benign	Het
Xylt1	A	G	7: 117,249,846 (GRCm39)	Y672C	probably damaging	Het
Yrdc	A	G	4: 124,744,880 (GRCm39)	S105G	probably benign	Het
Zfc3h1	T	A	10: 115,254,616 (GRCm39)	N1403K	probably damaging	Het
Zfp160	A	T	17: 21,247,298 (GRCm39)	H616L	probably damaging	Het
Zfp637	T	A	6: 117,822,252 (GRCm39)	F127I	probably damaging	Het
Zfp69	G	T	4: 120,787,731 (GRCm39)	A528D	probably damaging	Het
Zpr1	T	A	9: 46,189,645 (GRCm39)	L342Q	possibly 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
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
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'- TACTCACAGGTAAGGGAGTGTG -3'
(R):5'- AGTAGTCTCTACTGGCCAGG -3'

Sequencing Primer
(F):5'- CAGGAAGAGTTGACAGCCTCAC -3'
(R):5'- TCTCTACTGGCCAGGGGGAAG -3'

Posted On

2020-07-13