Mutagenetix > Incidental Mutation

Incidental Mutation 'R9240:Creb3l2'

700681

Institutional Source

Beutler Lab

Gene Symbol

Creb3l2

Ensembl Gene

ENSMUSG00000038648

Gene Name

cAMP responsive element binding protein 3-like 2

Synonyms

BBF2H7, C530025K05Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.424) question?

Stock #

R9240 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37307956-37419083 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37311506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 428 (N428D)

Ref Sequence

ENSEMBL: ENSMUSP00000040208 (fasta)

Gene Model

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

AlphaFold

Q8BH52

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041093
AA Change: N428D

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000040208
Gene: ENSMUSG00000038648
AA Change: N428D

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.6%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	A	G	8: 46,966,406 (GRCm39)	I187V	probably benign	Het
Adam7	C	A	14: 68,747,208 (GRCm39)	V584L	probably benign	Het
Arsg	T	A	11: 109,463,093 (GRCm39)	V451E	probably benign	Het
Btbd8	A	G	5: 107,600,034 (GRCm39)	D175G	probably benign	Het
Cacnb3	C	T	15: 98,540,486 (GRCm39)	P338L	probably benign	Het
Cars1	G	T	7: 143,138,533 (GRCm39)	P218Q	probably benign	Het
Ccdc180	T	C	4: 45,917,566 (GRCm39)		probably null	Het
Cdh23	C	T	10: 60,215,044 (GRCm39)	D1431N	probably benign	Het
Cenpf	A	T	1: 189,389,167 (GRCm39)	V1555D	probably benign	Het
Crebbp	A	T	16: 3,917,537 (GRCm39)		probably null	Het
Cstf1	C	A	2: 172,217,669 (GRCm39)	P94Q	probably damaging	Het
Dis3l	A	G	9: 64,217,447 (GRCm39)		probably null	Het
Dlc1	A	T	8: 37,052,005 (GRCm39)	D124E	probably benign	Het
Dpysl3	C	T	18: 43,487,867 (GRCm39)	V159I	probably benign	Het
Eea1	T	G	10: 95,776,824 (GRCm39)	I5S	probably benign	Het
F7	A	T	8: 13,085,173 (GRCm39)	T400S	probably damaging	Het
Fbxo38	C	A	18: 62,651,632 (GRCm39)	E558*	probably null	Het
Fcgr2b	C	T	1: 170,797,042 (GRCm39)		probably null	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Flt1	T	C	5: 147,618,676 (GRCm39)	N220D	probably benign	Het
Fzd9	A	G	5: 135,278,812 (GRCm39)	Y358H	probably damaging	Het
Gcc2	C	T	10: 58,106,398 (GRCm39)	Q545*	probably null	Het
Gkn3	T	C	6: 87,365,789 (GRCm39)	N10S	probably benign	Het
Gls	C	G	1: 52,207,553 (GRCm39)	V604L	probably benign	Het
Gtf2i	T	A	5: 134,292,619 (GRCm39)	Q375L	probably benign	Het
Hells	A	G	19: 38,935,289 (GRCm39)	M320V	possibly damaging	Het
Ints3	T	C	3: 90,310,410 (GRCm39)	S497G	possibly damaging	Het
Iqub	C	A	6: 24,505,622 (GRCm39)	L95F	probably benign	Het
Mat1a	G	A	14: 40,827,573 (GRCm39)	C9Y	probably benign	Het
Mfsd4b5	A	G	10: 39,851,099 (GRCm39)	L103P	probably damaging	Het
Ms4a14	T	C	19: 11,281,864 (GRCm39)	I231M	possibly damaging	Het
Muc16	T	C	9: 18,449,309 (GRCm39)	T7580A	unknown	Het
Myb	A	T	10: 21,016,500 (GRCm39)	L670Q	probably damaging	Het
Nisch	A	G	14: 30,906,988 (GRCm39)	L236P	unknown	Het
Or5d38	A	C	2: 87,955,231 (GRCm39)	F33V	probably benign	Het
Plscr4	A	T	9: 92,366,934 (GRCm39)	M183L	probably benign	Het
Polr1a	T	A	6: 71,940,661 (GRCm39)	C998*	probably null	Het
Prokr2	A	T	2: 132,223,377 (GRCm39)	V55E	possibly damaging	Het
Prr12	A	T	7: 44,684,075 (GRCm39)	V1655E	probably damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,119 (GRCm39)		probably benign	Het
Rspo1	C	T	4: 124,885,132 (GRCm39)	L3F	probably benign	Het
Rtn4rl1	C	A	11: 75,156,082 (GRCm39)	D171E	probably damaging	Het
Ryr1	A	G	7: 28,743,313 (GRCm39)	F3895L	probably damaging	Het
Scn8a	G	T	15: 100,915,068 (GRCm39)	G1211*	probably null	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Smarcd3	T	A	5: 24,801,831 (GRCm39)	M103L	probably benign	Het
Smg1	A	T	7: 117,739,031 (GRCm39)	S3458T	probably benign	Het
Smg6	C	T	11: 74,825,884 (GRCm39)	R738W	probably damaging	Het
Spef2	G	A	15: 9,578,401 (GRCm39)	Q1708*	probably null	Het
Taf2	A	T	15: 54,926,464 (GRCm39)	V162E	probably null	Het
Tbc1d23	A	T	16: 57,032,748 (GRCm39)	N154K	possibly damaging	Het
Tbx3	A	G	5: 119,818,960 (GRCm39)	S532G	probably benign	Het
Tedc1	T	C	12: 113,121,310 (GRCm39)	I177T	probably benign	Het
Tnrc6b	G	C	15: 80,764,262 (GRCm39)	G588A	probably damaging	Het
Top2a	T	A	11: 98,901,368 (GRCm39)	K519*	probably null	Het
Trim47	T	A	11: 115,999,148 (GRCm39)	M243L	probably benign	Het
Ttn	A	T	2: 76,641,865 (GRCm39)		probably null	Het
Uggt1	T	C	1: 36,221,696 (GRCm39)	E624G	possibly damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r9	A	G	5: 108,996,099 (GRCm39)	V183A	possibly damaging	Het
Zfp212	T	A	6: 47,906,032 (GRCm39)	V197E	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
R3808:Creb3l2	UTSW	6	37,332,625 (GRCm39)	missense	probably damaging	0.96
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
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'- TGGACCTACAGAACTCACAGG -3'
(R):5'- AACCTGAAGCCATTGCAGAAAG -3'

Sequencing Primer
(F):5'- TGCTGAAGCTCCAACAGTACTG -3'
(R):5'- TTGCAGAAAGCCAAACCTAGCTG -3'

Posted On

2022-02-07