Mutagenetix > Incidental Mutation

Incidental Mutation 'R9270:Creb3l2'

702832

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

Accession Numbers

Essential gene?

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

Stock #

R9270 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37307956-37419083 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37332583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 304 (N304D)

Ref Sequence

ENSEMBL: ENSMUSP00000040208 (fasta)

Gene Model

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

AlphaFold

Q8BH52

Predicted Effect

probably damaging
Transcript: ENSMUST00000041093
AA Change: N304D

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

SMART Domains

Protein: ENSMUSP00000040208
Gene: ENSMUSG00000038648
AA Change: N304D

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: 99.7%
20x: 99.1%

Validation Efficiency

100% (85/85)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt3	T	A	3: 30,652,781 (GRCm39)	E104D	probably damaging	Het
Aig1	T	C	10: 13,529,505 (GRCm39)		probably null	Het
Arih2	A	T	9: 108,493,890 (GRCm39)	D174E	probably damaging	Het
Asprv1	T	C	6: 86,606,077 (GRCm39)	F308L	probably damaging	Het
Baiap2l2	A	G	15: 79,168,205 (GRCm39)		probably null	Het
Btla	T	C	16: 45,064,656 (GRCm39)	F203L	possibly damaging	Het
C1rb	A	T	6: 124,551,947 (GRCm39)	D283V	probably damaging	Het
C87436	C	G	6: 86,442,813 (GRCm39)	Q462E	probably benign	Het
Ccdc149	T	C	5: 52,563,352 (GRCm39)	D147G	possibly damaging	Het
Chd6	A	T	2: 160,871,793 (GRCm39)	L214*	probably null	Het
Chrna4	C	A	2: 180,670,643 (GRCm39)	R371L	possibly damaging	Het
Cpne5	A	G	17: 29,444,163 (GRCm39)		probably null	Het
Cr1l	T	C	1: 194,789,204 (GRCm39)	E400G	possibly damaging	Het
Cyp17a1	T	C	19: 46,656,030 (GRCm39)	T420A	probably benign	Het
Cyp24a1	A	G	2: 170,327,853 (GRCm39)	I463T	probably damaging	Het
Cyp3a41b	A	T	5: 145,514,973 (GRCm39)	I84N	probably damaging	Het
Dnajc6	G	A	4: 101,496,559 (GRCm39)	V909M	possibly damaging	Het
Dtl	A	G	1: 191,288,923 (GRCm39)	Y264H	probably damaging	Het
Dynlt5	A	G	4: 102,845,955 (GRCm39)		probably null	Het
Dysf	C	T	6: 84,077,216 (GRCm39)	R660*	probably null	Het
Egf	A	G	3: 129,529,449 (GRCm39)		probably null	Het
Eva1c	T	C	16: 90,701,231 (GRCm39)	S402P	probably benign	Het
Fcho2	A	T	13: 98,925,869 (GRCm39)		probably null	Het
Fhdc1	G	A	3: 84,352,290 (GRCm39)	R197C	unknown	Het
Foxa2	T	A	2: 147,886,426 (GRCm39)	M136L	probably benign	Het
Gm10226	T	C	17: 21,910,866 (GRCm39)	C34R	possibly damaging	Het
Gm8947	T	C	1: 151,068,853 (GRCm39)	S229P	probably benign	Het
Ift56	C	T	6: 38,366,109 (GRCm39)		probably benign	Het
Ighv9-2	A	T	12: 114,072,896 (GRCm39)	S26T	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kat6a	T	G	8: 23,420,190 (GRCm39)	I745M	probably damaging	Het
Klhdc1	T	C	12: 69,309,968 (GRCm39)	L290P	probably damaging	Het
Lcp2	C	T	11: 34,039,688 (GRCm39)	T496I		Het
Map4k4	T	C	1: 40,042,923 (GRCm39)	W593R	probably benign	Het
Mefv	T	G	16: 3,535,841 (GRCm39)	Q29P	probably damaging	Het
Mgat5b	T	C	11: 116,859,269 (GRCm39)	Y34H		Het
Mlip	C	T	9: 77,137,080 (GRCm39)	R609Q	probably benign	Het
Muc2	A	G	7: 141,290,816 (GRCm39)	D34G		Het
Nbeal1	C	T	1: 60,307,548 (GRCm39)	P1687S	possibly damaging	Het
Notch1	T	A	2: 26,369,895 (GRCm39)	I477L	probably damaging	Het
Odad2	T	A	18: 7,217,846 (GRCm39)	K623*	probably null	Het
Or1l4b	G	A	2: 37,037,047 (GRCm39)	M274I	probably benign	Het
Or1s2	T	C	19: 13,758,333 (GRCm39)	V117A	probably benign	Het
Or4a2	A	T	2: 89,248,712 (GRCm39)	L15Q	probably damaging	Het
Or51v8	T	A	7: 103,320,124 (GRCm39)	N38I	probably damaging	Het
Or6c214	A	G	10: 129,591,148 (GRCm39)	M57T	probably damaging	Het
Pak5	A	T	2: 135,958,688 (GRCm39)	S133R	probably damaging	Het
Pcyt1a	C	A	16: 32,285,332 (GRCm39)	D187E	probably benign	Het
Pdlim7	G	T	13: 55,655,354 (GRCm39)	T161K	probably damaging	Het
Phf8-ps	A	C	17: 33,286,701 (GRCm39)	C34G	probably damaging	Het
Pik3r4	A	G	9: 105,547,108 (GRCm39)	K962R	probably benign	Het
Pkd1l2	T	C	8: 117,759,433 (GRCm39)	K1516E	probably damaging	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Ptchd3	A	T	11: 121,733,180 (GRCm39)	Y690F	probably benign	Het
Ptpn13	A	T	5: 103,649,735 (GRCm39)	R379S	possibly damaging	Het
Rbm27	C	T	18: 42,438,829 (GRCm39)	A410V	probably benign	Het
Rnase4	A	G	14: 51,342,662 (GRCm39)	T129A	probably benign	Het
Serpinb11	C	T	1: 107,304,533 (GRCm39)	T166I	probably benign	Het
Shank2	A	G	7: 143,963,705 (GRCm39)	T438A	possibly damaging	Het
Slc13a2	T	C	11: 78,295,258 (GRCm39)	N172D	probably damaging	Het
Slc2a8	A	G	2: 32,864,864 (GRCm39)	F428L	probably damaging	Het
Slc38a6	T	C	12: 73,398,544 (GRCm39)	M358T	probably benign	Het
Snx29	A	G	16: 11,213,155 (GRCm39)	H107R	probably benign	Het
Spint3	G	A	2: 164,415,154 (GRCm39)	A21V	probably benign	Het
Susd1	A	T	4: 59,412,226 (GRCm39)	V162E	probably benign	Het
Syne2	T	G	12: 75,977,834 (GRCm39)	N1426K	probably damaging	Het
Synj2	T	C	17: 6,067,875 (GRCm39)	V638A	possibly damaging	Het
Thada	A	T	17: 84,538,589 (GRCm39)	L1473Q	probably damaging	Het
Trim36	G	A	18: 46,300,580 (GRCm39)	S697L	possibly damaging	Het
Ttbk1	A	T	17: 46,781,517 (GRCm39)	I412N	possibly damaging	Het
Tubb2a	T	C	13: 34,258,578 (GRCm39)	D404G	probably damaging	Het
Tyk2	T	A	9: 21,035,841 (GRCm39)	N114Y	probably damaging	Het
Umodl1	A	G	17: 31,185,678 (GRCm39)	D139G	probably damaging	Het
Urb2	A	G	8: 124,750,192 (GRCm39)		probably benign	Het
Vmn2r101	T	A	17: 19,810,244 (GRCm39)	N343K	probably benign	Het
Vnn1	A	G	10: 23,780,464 (GRCm39)	D484G	probably damaging	Het
Vps13b	A	G	15: 35,770,919 (GRCm39)	T2121A	probably benign	Het
Wdr81	T	C	11: 75,345,216 (GRCm39)	E17G	probably benign	Het
Wnk2	T	G	13: 49,224,505 (GRCm39)	K1117Q	probably benign	Het
Zbtb46	C	T	2: 181,066,138 (GRCm39)	R4Q	probably benign	Het
Zfp608	T	A	18: 55,032,190 (GRCm39)	K583N	probably damaging	Het
Zfp729b	A	T	13: 67,740,480 (GRCm39)	L595H	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
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
R9240:Creb3l2	UTSW	6	37,311,506 (GRCm39)	missense	possibly damaging	0.56
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'- TGGTGTAACAAGGAGTCCATACTG -3'
(R):5'- TCTGCATGGTGAGATTCTCCAC -3'

Sequencing Primer
(F):5'- AGTCCATACTGGTGTGAGTTCAC -3'
(R):5'- GTGAGGTCACATTCCAGTCAC -3'

Posted On

2022-03-25