Mutagenetix > Incidental Mutation

Incidental Mutation 'R7868:Creb3l2'

607909

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

045920-MU

Accession Numbers

Essential gene?

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

Stock #

R7868 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37307956-37419083 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37312804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 410 (P410L)

Ref Sequence

ENSEMBL: ENSMUSP00000040208 (fasta)

Gene Model

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

AlphaFold

Q8BH52

Predicted Effect

probably damaging
Transcript: ENSMUST00000041093
AA Change: P410L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000040208
Gene: ENSMUSG00000038648
AA Change: P410L

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: 99.9%
10x: 99.7%
20x: 99.0%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415A04Rik	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	11: 43,478,257 (GRCm39)		probably null	Het
Acacb	A	G	5: 114,386,288 (GRCm39)	E2274G	probably benign	Het
Adam7	A	G	14: 68,770,090 (GRCm39)	I21T	possibly damaging	Het
Aldh3b3	C	T	19: 4,018,492 (GRCm39)	R57*	probably null	Het
Arhgap22	T	C	14: 33,086,473 (GRCm39)		probably benign	Het
B4galt5	G	T	2: 167,143,340 (GRCm39)	Y361*	probably null	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
Bsn	G	T	9: 107,992,098 (GRCm39)	A1218D	possibly damaging	Het
Ccdc141	T	C	2: 76,938,756 (GRCm39)	D283G	probably damaging	Het
Ccdc33	T	A	9: 57,976,374 (GRCm39)	I547F	probably benign	Het
Chdh	A	G	14: 29,753,288 (GRCm39)	N66D	probably benign	Het
Ckap2l	T	A	2: 129,127,209 (GRCm39)	Q323L	probably damaging	Het
Cpvl	T	A	6: 53,951,745 (GRCm39)	I13F	possibly damaging	Het
Dna2	T	C	10: 62,805,643 (GRCm39)	V960A	probably benign	Het
Dop1a	G	A	9: 86,384,037 (GRCm39)		probably null	Het
Dpysl5	A	T	5: 30,902,760 (GRCm39)	D64V	probably damaging	Het
Dysf	A	G	6: 84,091,081 (GRCm39)	Q1041R	probably benign	Het
Efcab7	T	C	4: 99,746,154 (GRCm39)	V242A	probably benign	Het
Ehbp1	G	A	11: 22,096,542 (GRCm39)	R341*	probably null	Het
Eif1ad8	G	T	12: 87,563,388 (GRCm39)		probably benign	Het
Fbxo32	A	T	15: 58,077,986 (GRCm39)	W8R	probably damaging	Het
Fpgs	T	C	2: 32,573,472 (GRCm39)	N455D	probably damaging	Het
Fsip1	G	A	2: 117,966,967 (GRCm39)	Q453*	probably null	Het
Gm8257	T	A	14: 44,894,754 (GRCm39)	E12V	probably damaging	Het
Kdm3a	A	T	6: 71,572,473 (GRCm39)	D1029E	probably benign	Het
Lipo4	T	G	19: 33,488,968 (GRCm39)	Q205P	possibly damaging	Het
Lpar6	A	T	14: 73,476,435 (GRCm39)	N132I	probably damaging	Het
Lrp1b	C	T	2: 41,339,246 (GRCm39)	G866S		Het
Man2c1	T	C	9: 57,045,270 (GRCm39)	F460L	probably damaging	Het
Map3k7cl	T	C	16: 87,378,100 (GRCm39)	V72A	probably damaging	Het
Map4k1	A	T	7: 28,699,387 (GRCm39)		probably null	Het
Matn1	A	G	4: 130,682,311 (GRCm39)	E496G	probably damaging	Het
Mfsd2a	A	T	4: 122,850,648 (GRCm39)	V76E	possibly damaging	Het
Mmut	C	T	17: 41,257,934 (GRCm39)	R367C	probably damaging	Het
Mtpap	A	G	18: 4,380,673 (GRCm39)	E117G	probably damaging	Het
Muc17	T	A	5: 137,175,625 (GRCm39)	N15I		Het
Ndufa10	A	G	1: 92,388,169 (GRCm39)	Y275H	probably damaging	Het
Nlrc4	A	T	17: 74,755,047 (GRCm39)	H56Q	possibly damaging	Het
Nrde2	G	A	12: 100,097,446 (GRCm39)	R785C	possibly damaging	Het
Nsun4	C	A	4: 115,891,329 (GRCm39)	C350F	probably benign	Het
Or10x1	A	G	1: 174,196,551 (GRCm39)	T23A	probably benign	Het
Or51f23b	A	G	7: 102,402,812 (GRCm39)	L108P	possibly damaging	Het
Or8g2	T	A	9: 39,821,282 (GRCm39)	F61Y	probably benign	Het
Or9s14	G	A	1: 92,536,237 (GRCm39)	G226D	possibly damaging	Het
Pdcd7	T	A	9: 65,254,261 (GRCm39)	C280S	probably damaging	Het
Peak1	G	T	9: 56,167,754 (GRCm39)	T58K	probably damaging	Het
Phactr2	T	C	10: 13,108,353 (GRCm39)	E573G	probably damaging	Het
Pramel27	A	G	4: 143,578,154 (GRCm39)	H138R	possibly damaging	Het
Ptprz1	G	A	6: 23,000,963 (GRCm39)	A1018T	not run	Het
Ralgapa1	G	T	12: 55,659,423 (GRCm39)	D2032E	probably benign	Het
Rapgef4	T	A	2: 72,031,481 (GRCm39)	N488K	probably benign	Het
Slc1a2	A	G	2: 102,591,530 (GRCm39)	D420G	probably benign	Het
Smyd5	T	A	6: 85,421,297 (GRCm39)	L337Q	probably damaging	Het
Tenm4	G	A	7: 96,555,587 (GRCm39)	R2764H	possibly damaging	Het
Tex35	A	T	1: 156,926,908 (GRCm39)	Y195*	probably null	Het
Tln2	T	C	9: 67,255,508 (GRCm39)	K690E	probably damaging	Het
Trpc4	A	G	3: 54,209,707 (GRCm39)	T691A	probably benign	Het
Tsr1	T	A	11: 74,791,158 (GRCm39)	F246I	possibly damaging	Het
Ttn	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	2: 76,746,150 (GRCm39)		probably benign	Het
Ubr4	A	T	4: 139,187,344 (GRCm39)	Y669F	unknown	Het
Uox	A	C	3: 146,316,029 (GRCm39)	D12A	probably benign	Het
Wdr17	A	G	8: 55,149,302 (GRCm39)		probably null	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
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'- AGAATTCCTGGTGCTACCCAG -3'
(R):5'- GTCATTTCAAGGACACAAGTGAGG -3'

Sequencing Primer
(F):5'- TACCCAGGGAGTCCAGTG -3'
(R):5'- TGACCCCTAACAGACTTGTGC -3'

Posted On

2019-12-20