Mutagenetix > Incidental Mutation

Incidental Mutation 'R3808:Creb3l2'

275030

Institutional Source

Beutler Lab

Gene Symbol

Creb3l2

Ensembl Gene

ENSMUSG00000038648

Gene Name

cAMP responsive element binding protein 3-like 2

Synonyms

BBF2H7, C530025K05Rik

MMRRC Submission

040765-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.369) question?

Stock #

R3808 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37307956-37419083 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37332625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 290 (S290P)

Ref Sequence

ENSEMBL: ENSMUSP00000040208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041093]

AlphaFold

Q8BH52

Predicted Effect

probably damaging
Transcript: ENSMUST00000041093
AA Change: S290P

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000040208
Gene: ENSMUSG00000038648
AA Change: S290P

Domain	Start	End	E-Value	Type
low complexity region	203	220	N/A	INTRINSIC
BRLZ	292	356	1.25e-15	SMART
low complexity region	436	452	N/A	INTRINSIC
low complexity region	455	469	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.8%

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 oasis bZIP transcription factor family. Members of this family can dimerize but form homodimers only. The encoded protein is a transcriptional activator. Translocations between this gene on chromosome 7 and the gene fused in sarcoma on chromosome 16 can be found in some tumors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit severe chondrodysplasia and die shortly after first birth from suffocation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Aldh3a2	G	T	11: 61,149,623 (GRCm39)	L248M	probably damaging	Het
Als2	A	G	1: 59,209,609 (GRCm39)	S1458P	probably benign	Het
Aoc1l3	C	T	6: 48,964,928 (GRCm39)	P312L	possibly damaging	Het
Arhgap5	A	G	12: 52,613,970 (GRCm39)	E192G	possibly damaging	Het
Atg2a	A	G	19: 6,302,846 (GRCm39)	K1019R	possibly damaging	Het
Atp2b1	A	G	10: 98,839,010 (GRCm39)	K613E	possibly damaging	Het
Carm1	T	C	9: 21,498,258 (GRCm39)	C421R	probably damaging	Het
Cdh17	A	T	4: 11,795,671 (GRCm39)	Y417F	probably damaging	Het
Cers1	A	G	8: 70,782,660 (GRCm39)	D10G	possibly damaging	Het
Clptm1l	A	C	13: 73,760,573 (GRCm39)	M319L	probably benign	Het
Cntnap3	A	G	13: 64,929,618 (GRCm39)	V527A	probably damaging	Het
Dock4	T	G	12: 40,722,809 (GRCm39)	V305G	probably damaging	Het
Dtl	A	C	1: 191,280,466 (GRCm39)	L356R	probably damaging	Het
Eftud2	A	T	11: 102,732,289 (GRCm39)		probably null	Het
Eif2b4	A	G	5: 31,348,512 (GRCm39)	S88P	possibly damaging	Het
Fat4	T	G	3: 39,036,587 (GRCm39)	V3413G	possibly damaging	Het
Fgfr2	T	C	7: 129,801,578 (GRCm39)	M218V	probably benign	Het
Grin2b	A	G	6: 135,900,269 (GRCm39)	L204P	probably damaging	Het
Kcnj12	A	G	11: 60,961,103 (GRCm39)	N467S	probably benign	Het
Klhdc3	T	A	17: 46,988,858 (GRCm39)	N111Y	possibly damaging	Het
Lin9	A	G	1: 180,486,676 (GRCm39)	I81V	probably null	Het
Lrp2	T	C	2: 69,331,892 (GRCm39)	D1621G	probably damaging	Het
Lrp4	T	A	2: 91,307,047 (GRCm39)	D389E	probably damaging	Het
Med15	C	T	16: 17,473,598 (GRCm39)		probably benign	Het
Nbea	T	C	3: 55,625,269 (GRCm39)	N2274S	probably benign	Het
Nr3c2	G	A	8: 77,635,343 (GRCm39)	G148D	probably damaging	Het
Or10s1	A	T	9: 39,985,605 (GRCm39)	M5L	probably benign	Het
Or14j6	T	C	17: 38,214,464 (GRCm39)	V9A	probably benign	Het
Or4c112	G	T	2: 88,853,770 (GRCm39)	H192Q	probably benign	Het
Paxip1	A	G	5: 27,977,027 (GRCm39)		probably benign	Het
Pfas	T	C	11: 68,880,779 (GRCm39)		probably benign	Het
Plin3	C	A	17: 56,593,275 (GRCm39)	A96S	probably damaging	Het
Pnck	T	A	X: 72,700,550 (GRCm39)	I288F	probably damaging	Het
Ppp4c	C	T	7: 126,386,499 (GRCm39)	G166D	probably damaging	Het
Prss43	A	T	9: 110,656,840 (GRCm39)	R115S	probably damaging	Het
Rassf2	T	C	2: 131,840,180 (GRCm39)		probably null	Het
Rdh16f1	T	A	10: 127,624,568 (GRCm39)	D135E	probably benign	Het
Rdh16f1	G	A	10: 127,624,569 (GRCm39)	V136M	probably damaging	Het
Rgs12	A	G	5: 35,189,698 (GRCm39)	E702G	probably damaging	Het
Rnf213	A	G	11: 119,370,384 (GRCm39)	K4728E	probably damaging	Het
Ros1	T	G	10: 51,996,944 (GRCm39)	T1243P	probably benign	Het
Sall1	G	A	8: 89,758,101 (GRCm39)	Q668*	probably null	Het
Sbf2	C	A	7: 110,088,487 (GRCm39)	*45L	probably null	Het
Serpina3j	A	T	12: 104,286,086 (GRCm39)	I414F	probably benign	Het
Sh2d3c	T	C	2: 32,636,108 (GRCm39)	Y159H	probably damaging	Het
Slamf1	A	G	1: 171,625,745 (GRCm39)	D307G	probably null	Het
Slc22a13	T	C	9: 119,025,143 (GRCm39)	T178A	probably benign	Het
Smchd1	A	T	17: 71,736,536 (GRCm39)	L588H	probably damaging	Het
Trim12a	G	A	7: 103,956,201 (GRCm39)	A113V	probably benign	Het
Vil1	T	C	1: 74,466,772 (GRCm39)	V654A	probably benign	Het
Vmn1r202	T	C	13: 22,686,070 (GRCm39)	T116A	possibly damaging	Het
Zfp267	T	G	3: 36,219,792 (GRCm39)		probably null	Het
Zfp607a	G	A	7: 27,578,826 (GRCm39)	R632H	probably benign	Het

Other mutations in Creb3l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01129:Creb3l2	APN	6	37,330,569 (GRCm39)	splice site	probably benign
R0611:Creb3l2	UTSW	6	37,311,416 (GRCm39)	missense	probably benign	0.01
R0634:Creb3l2	UTSW	6	37,311,283 (GRCm39)	splice site	probably benign
R3755:Creb3l2	UTSW	6	37,340,961 (GRCm39)	missense	possibly damaging	0.86
R4060:Creb3l2	UTSW	6	37,311,484 (GRCm39)	missense	probably benign	0.32
R4771:Creb3l2	UTSW	6	37,311,512 (GRCm39)	missense	probably benign	0.26
R6031:Creb3l2	UTSW	6	37,311,369 (GRCm39)	missense	probably benign	0.01
R6031:Creb3l2	UTSW	6	37,311,369 (GRCm39)	missense	probably benign	0.01
R7051:Creb3l2	UTSW	6	37,313,200 (GRCm39)	missense	possibly damaging	0.77
R7381:Creb3l2	UTSW	6	37,312,783 (GRCm39)	missense	probably damaging	1.00
R7491:Creb3l2	UTSW	6	37,356,794 (GRCm39)	missense	probably benign	0.01
R7868:Creb3l2	UTSW	6	37,312,804 (GRCm39)	missense	probably damaging	0.99
R9091:Creb3l2	UTSW	6	37,332,583 (GRCm39)	missense	probably damaging	1.00
R9240:Creb3l2	UTSW	6	37,311,506 (GRCm39)	missense	possibly damaging	0.56
R9270:Creb3l2	UTSW	6	37,332,583 (GRCm39)	missense	probably damaging	1.00
R9387:Creb3l2	UTSW	6	37,356,751 (GRCm39)	missense	probably damaging	0.96
R9476:Creb3l2	UTSW	6	37,311,446 (GRCm39)	missense	probably damaging	1.00
R9510:Creb3l2	UTSW	6	37,311,446 (GRCm39)	missense	probably damaging	1.00
R9630:Creb3l2	UTSW	6	37,356,808 (GRCm39)	missense	possibly damaging	0.82
R9663:Creb3l2	UTSW	6	37,356,926 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCATACTGGTGTGAGTTCAC -3'
(R):5'- AGAGGCTCAGTTTCTCTGCATG -3'

Sequencing Primer
(F):5'- GTGAGTTCACACCCACGG -3'
(R):5'- GCATGGTGAGATTCTCCACAC -3'

Posted On

2015-04-02