Mutagenetix > Incidental Mutation

Incidental Mutation 'R3755:Creb3l2'

271386

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

040738-MU

Accession Numbers

Essential gene?

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

Stock #

R3755 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37307956-37419083 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37340961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 146 (I146N)

Ref Sequence

ENSEMBL: ENSMUSP00000040208 (fasta)

Gene Model

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

AlphaFold

Q8BH52

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041093
AA Change: I146N

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000040208
Gene: ENSMUSG00000038648
AA Change: I146N

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

Meta Mutation Damage Score

0.0653

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

96% (50/52)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	C	A	10: 29,098,110 (GRCm39)	S169Y	probably damaging	Het
Abcb1a	G	A	5: 8,797,403 (GRCm39)	V1225M	possibly damaging	Het
Adamdec1	A	T	14: 68,814,587 (GRCm39)	I130N	probably damaging	Het
Atf7ip	T	A	6: 136,537,815 (GRCm39)	N357K	probably benign	Het
Bace2	C	G	16: 97,237,857 (GRCm39)	T436R	probably benign	Het
Capn13	G	A	17: 73,638,114 (GRCm39)	Q430*	probably null	Het
Ccdc30	A	T	4: 119,225,005 (GRCm39)		probably null	Het
Ces5a	T	C	8: 94,255,130 (GRCm39)	T184A	probably benign	Het
Cntnap5c	T	C	17: 58,411,594 (GRCm39)	C493R	possibly damaging	Het
Erich3	A	G	3: 154,469,958 (GRCm39)		probably benign	Het
Etl4	G	A	2: 20,748,348 (GRCm39)	V27I	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fsip2	G	A	2: 82,808,561 (GRCm39)	D1627N	probably benign	Het
Gcdh	A	G	8: 85,620,109 (GRCm39)		probably benign	Het
Kcna7	T	C	7: 45,058,369 (GRCm39)	F219L	probably benign	Het
Kdm3b	T	C	18: 34,941,349 (GRCm39)	L280S	probably benign	Het
Knl1	T	A	2: 118,933,060 (GRCm39)	V2073D	probably damaging	Het
Kprp	A	G	3: 92,732,346 (GRCm39)	S235P	unknown	Het
Lpp	A	G	16: 24,663,911 (GRCm39)	H396R	probably benign	Het
Lrch4	T	A	5: 137,635,992 (GRCm39)	D348E	probably damaging	Het
Mcm9	T	C	10: 53,502,048 (GRCm39)	N179S	probably benign	Het
Mettl13	T	C	1: 162,371,789 (GRCm39)	E360G	probably damaging	Het
Nfib	A	T	4: 82,241,936 (GRCm39)	S418R	probably damaging	Het
Or52b1	A	G	7: 104,979,358 (GRCm39)	F14L	probably damaging	Het
Or8s2	A	C	15: 98,276,463 (GRCm39)	I176S	probably benign	Het
Pcdha8	G	A	18: 37,126,741 (GRCm39)	V408M	probably damaging	Het
Pcdhb3	T	C	18: 37,435,878 (GRCm39)	F615L	probably damaging	Het
Pkd1l3	C	T	8: 110,359,171 (GRCm39)	T844I	probably damaging	Het
Pkhd1l1	A	T	15: 44,452,802 (GRCm39)	E3909V	probably damaging	Het
Poldip3	A	G	15: 83,015,676 (GRCm39)		probably benign	Het
Ptpn1	T	C	2: 167,816,143 (GRCm39)	I219T	probably damaging	Het
Rad18	T	C	6: 112,670,432 (GRCm39)	N44S	probably damaging	Het
Reep5	T	C	18: 34,505,527 (GRCm39)	Y48C	probably damaging	Het
Rgl2	C	A	17: 34,151,571 (GRCm39)	A205D	probably benign	Het
Rundc3a	A	G	11: 102,290,085 (GRCm39)	I175V	possibly damaging	Het
Slamf1	C	T	1: 171,604,728 (GRCm39)	A166V	probably damaging	Het
Slc4a5	A	G	6: 83,265,285 (GRCm39)	D693G	probably benign	Het
Snap23	T	A	2: 120,416,726 (GRCm39)	C79S	probably damaging	Het
Spag6l	A	C	16: 16,580,884 (GRCm39)		probably null	Het
Trappc13	C	T	13: 104,305,068 (GRCm39)	D40N	probably benign	Het
Trav4-3	C	A	14: 53,836,596 (GRCm39)	S20R	probably benign	Het
Tssk2	G	A	16: 17,716,827 (GRCm39)	E77K	probably damaging	Het
Ubap2	A	G	4: 41,195,482 (GRCm39)	F1051S	probably damaging	Het
Ugt3a1	A	G	15: 9,367,498 (GRCm39)	T414A	probably benign	Het
Urod	C	T	4: 116,850,601 (GRCm39)	C66Y	probably damaging	Het
Vmn1r234	A	G	17: 21,449,271 (GRCm39)	K62E	probably damaging	Het
Wiz	A	G	17: 32,578,106 (GRCm39)	S460P	probably damaging	Het
Zbbx	C	T	3: 75,012,978 (GRCm39)	G151E	probably damaging	Het
Zbtb7a	C	T	10: 80,980,100 (GRCm39)	T98M	probably damaging	Het
Zfp524	C	A	7: 5,020,884 (GRCm39)	H137Q	probably damaging	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
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
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'- TGCATACATATACAGCTATTCTCCC -3'
(R):5'- ATTCTGGCATGCACACTTCC -3'

Sequencing Primer
(F):5'- CCTCAAAATCGTGTATCTCCTAGG -3'
(R):5'- AGTGGTCACATGACTCGCTTATAC -3'

Posted On

2015-03-18