Mutagenetix > Incidental Mutation

Incidental Mutation 'R6195:Creb3'

502837

Institutional Source

Beutler Lab

Gene Symbol

Creb3

Ensembl Gene

ENSMUSG00000028466

Gene Name

cAMP responsive element binding protein 3

Synonyms

LZIP-1, LZIP, Luman, LZIP-2

MMRRC Submission

044335-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.803) question?

Stock #

R6195 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43562658-43567061 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43566346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 260 (D260G)

Ref Sequence

ENSEMBL: ENSMUSP00000100008 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030187] [ENSMUST00000030189] [ENSMUST00000102944] [ENSMUST00000130443] [ENSMUST00000167751] [ENSMUST00000132631]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030187

SMART Domains

Protein: ENSMUSP00000030187
Gene: ENSMUSG00000028465

Domain	Start	End	E-Value	Type
Blast:B41	2	76	5e-31	BLAST
B41	82	313	4.66e-73	SMART
IRS	308	401	7.65e-16	SMART
Pfam:Talin_middle	491	652	8.2e-60	PFAM
low complexity region	671	690	N/A	INTRINSIC
internal_repeat_2	699	760	8.94e-6	PROSPERO
low complexity region	766	775	N/A	INTRINSIC
PDB:1ZVZ\|B	820	844	2e-7	PDB
low complexity region	866	879	N/A	INTRINSIC
low complexity region	884	895	N/A	INTRINSIC
PDB:2LQG\|A	913	1044	2e-44	PDB
PDB:2L7N\|A	1046	1207	1e-101	PDB
Pfam:VBS	1234	1358	9.6e-8	PFAM
internal_repeat_2	1488	1549	8.94e-6	PROSPERO
internal_repeat_3	1623	1769	4.92e-5	PROSPERO
low complexity region	1817	1828	N/A	INTRINSIC
Pfam:VBS	1849	1973	6.2e-67	PFAM
PDB:3DYJ\|B	1974	2293	N/A	PDB
low complexity region	2305	2327	N/A	INTRINSIC
ILWEQ	2336	2533	2.93e-105	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000030189

SMART Domains

Protein: ENSMUSP00000030189
Gene: ENSMUSG00000028467

Domain	Start	End	E-Value	Type
Pfam:GBA2_N	142	446	9.4e-106	PFAM
Pfam:DUF608	512	879	1.3e-153	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102944
AA Change: D260G

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000100008
Gene: ENSMUSG00000028466
AA Change: D260G

Domain	Start	End	E-Value	Type
low complexity region	54	83	N/A	INTRINSIC
low complexity region	132	147	N/A	INTRINSIC
BRLZ	158	222	2.03e-15	SMART
low complexity region	240	253	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123985

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126277

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128403

Predicted Effect

probably benign
Transcript: ENSMUST00000130443

SMART Domains

Protein: ENSMUSP00000119589
Gene: ENSMUSG00000028467

Domain	Start	End	E-Value	Type
Pfam:GBA2_N	142	180	5.6e-13	PFAM
Pfam:GBA2_N	178	227	1.5e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167751
AA Change: D284G

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000129401
Gene: ENSMUSG00000028466
AA Change: D284G

Domain	Start	End	E-Value	Type
low complexity region	54	83	N/A	INTRINSIC
low complexity region	156	171	N/A	INTRINSIC
BRLZ	182	246	2.03e-15	SMART
low complexity region	264	277	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139606

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152251

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144968

Predicted Effect

probably benign
Transcript: ENSMUST00000132631

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148426

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138623

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130670

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159923

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

97% (76/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds to the cAMP-response element and regulates cell proliferation. The protein interacts with host cell factor C1, which also associates with the herpes simplex virus (HSV) protein VP16 that induces transcription of HSV immediate-early genes. This protein and VP16 both bind to the same site on host cell factor C1. It is thought that the interaction between this protein and host cell factor C1 plays a role in the establishment of latency during HSV infection. This protein also plays a role in leukocyte migration, tumor suppression, and endoplasmic reticulum stress-associated protein degradation. Additional transcript variants have been identified, but their biological validity has not been determined.[provided by RefSeq, Nov 2009]

Allele List at MGI

All alleles(2) : Targeted(1) Gene trapped(1)

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	A	G	1: 192,857,142 (GRCm39)		probably null	Het
Aadacl2fm2	G	A	3: 59,659,623 (GRCm39)	V359I	probably damaging	Het
Abtb1	T	C	6: 88,817,718 (GRCm39)	E50G	probably benign	Het
Agbl2	T	A	2: 90,643,657 (GRCm39)	D792E	probably benign	Het
Aoc1	C	A	6: 48,885,611 (GRCm39)	N705K	probably damaging	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Arhgef7	C	T	8: 11,872,017 (GRCm39)	T701I	probably damaging	Het
Atg10	G	T	13: 91,356,555 (GRCm39)		probably null	Het
Atp5f1c	T	C	2: 10,068,926 (GRCm39)	I116M	possibly damaging	Het
Baz2b	T	A	2: 59,737,855 (GRCm39)	Q1818L	possibly damaging	Het
Bod1	A	G	11: 31,616,740 (GRCm39)	*174Q	probably null	Het
Cacna1a	A	G	8: 85,315,382 (GRCm39)	Y1539C	probably damaging	Het
Cyp1b1	G	T	17: 80,021,695 (GRCm39)	L16M	probably damaging	Het
Dhx29	T	A	13: 113,101,071 (GRCm39)	S1205T	probably benign	Het
Dlec1	A	G	9: 118,966,321 (GRCm39)	K1097E	probably benign	Het
Dnah7b	G	A	1: 46,243,429 (GRCm39)	D1578N	probably damaging	Het
Dok3	T	C	13: 55,671,389 (GRCm39)	N394S	probably benign	Het
Dpcd	A	G	19: 45,565,458 (GRCm39)	D144G	probably damaging	Het
Efhb	A	G	17: 53,769,580 (GRCm39)	F243S	possibly damaging	Het
Eif2ak2	A	T	17: 79,178,662 (GRCm39)	Y137*	probably null	Het
Eif4e1b	A	G	13: 54,932,018 (GRCm39)	N34S	probably null	Het
F2rl3	A	G	8: 73,489,513 (GRCm39)	T247A	probably benign	Het
Fan1	A	T	7: 64,004,119 (GRCm39)	H782Q	probably damaging	Het
Fer1l5	T	C	1: 36,414,367 (GRCm39)		probably null	Het
Fer1l6	T	C	15: 58,509,806 (GRCm39)	S1423P	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fgfbp1	T	C	5: 44,136,704 (GRCm39)	D196G	possibly damaging	Het
Fxn	G	A	19: 24,239,407 (GRCm39)	R162C	probably damaging	Het
Fxr2	C	T	11: 69,543,099 (GRCm39)	T632M	probably benign	Het
Gab1	A	T	8: 81,606,161 (GRCm39)	Y24*	probably null	Het
Gcc2	T	C	10: 58,106,806 (GRCm39)	S681P	probably damaging	Het
Git2	T	C	5: 114,905,175 (GRCm39)	N94S	probably benign	Het
Gm5799	T	G	14: 43,782,088 (GRCm39)	L87V	probably damaging	Het
Golga7b	A	T	19: 42,251,886 (GRCm39)	D44V	probably benign	Het
Hace1	T	A	10: 45,546,539 (GRCm39)	I391N	possibly damaging	Het
Hmcn2	T	C	2: 31,274,127 (GRCm39)	S1416P	probably damaging	Het
Hoxa11	G	A	6: 52,222,681 (GRCm39)	R7C	probably damaging	Het
Igkv14-126	A	T	6: 67,873,475 (GRCm39)	T68S	possibly damaging	Het
Insyn2a	T	C	7: 134,520,377 (GRCm39)	D51G	probably damaging	Het
Itpr3	T	C	17: 27,305,934 (GRCm39)	I164T	probably damaging	Het
Kif22	A	G	7: 126,628,131 (GRCm39)	S540P	probably damaging	Het
Ldlr	T	A	9: 21,643,077 (GRCm39)	C34*	probably null	Het
Lrrtm4	T	C	6: 79,998,939 (GRCm39)	L117P	probably damaging	Het
Mad2l1	G	T	6: 66,514,612 (GRCm39)	G94C	possibly damaging	Het
Malrd1	C	A	2: 15,700,137 (GRCm39)	H661Q	probably damaging	Het
Mical3	T	A	6: 120,993,796 (GRCm39)		probably benign	Het
Mipep	T	A	14: 61,109,554 (GRCm39)	W644R	probably damaging	Het
Mycl	A	G	4: 122,893,713 (GRCm39)	D171G	probably damaging	Het
Myof	A	G	19: 37,901,805 (GRCm39)	F997L	possibly damaging	Het
Nagpa	C	T	16: 5,021,613 (GRCm39)	R46H	probably damaging	Het
Nf1	A	G	11: 79,456,801 (GRCm39)	Y629C	probably damaging	Het
Obscn	T	A	11: 58,888,033 (GRCm39)	E2164V	probably damaging	Het
Or52h1	A	T	7: 103,828,961 (GRCm39)	V218D	possibly damaging	Het
Or5ac23	A	G	16: 59,149,785 (GRCm39)	V29A	possibly damaging	Het
Or5w19	T	C	2: 87,698,904 (GRCm39)	S190P	possibly damaging	Het
Or8k25	T	C	2: 86,243,551 (GRCm39)	I282V	probably damaging	Het
Pcdh20	T	C	14: 88,705,488 (GRCm39)	E604G	probably benign	Het
Pcdhb7	G	A	18: 37,475,709 (GRCm39)	V282I	probably benign	Het
Pcnx4	A	G	12: 72,603,648 (GRCm39)	D523G	possibly damaging	Het
Pigx	G	A	16: 31,903,404 (GRCm39)	T219I	probably damaging	Het
Plch1	G	T	3: 63,648,210 (GRCm39)	P399Q	probably damaging	Het
Pvrig-ps	T	A	5: 138,340,537 (GRCm39)	F74I	possibly damaging	Het
Rsrp1	T	A	4: 134,654,113 (GRCm39)	I255K	probably damaging	Het
Scn1a	T	A	2: 66,107,962 (GRCm39)	Y1588F	possibly damaging	Het
Serpina9	T	A	12: 103,967,666 (GRCm39)	H243L	probably damaging	Het
Tapbp	T	C	17: 34,138,956 (GRCm39)	L41P	probably damaging	Het
Tbc1d16	T	A	11: 119,101,391 (GRCm39)	K40*	probably null	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tbc1d23	T	C	16: 57,051,713 (GRCm39)	E6G	possibly damaging	Het
Tdrd6	A	G	17: 43,940,643 (GRCm39)	V135A	probably damaging	Het
Tmem87a	A	T	2: 120,222,656 (GRCm39)		probably null	Het
Tnrc18	T	A	5: 142,750,928 (GRCm39)	K1217N	unknown	Het
Trim33	G	A	3: 103,244,848 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,567,997 (GRCm39)	Y27632F	probably benign	Het
Tubgcp6	A	T	15: 89,006,994 (GRCm39)	D9E	probably benign	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Zfp655	T	A	5: 145,180,572 (GRCm39)	F143L	possibly damaging	Het

Other mutations in Creb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00473:Creb3	APN	4	43,565,517 (GRCm39)	missense	probably benign
IGL02641:Creb3	APN	4	43,563,311 (GRCm39)	missense	probably benign	0.00
IGL03101:Creb3	APN	4	43,563,081 (GRCm39)	missense	probably benign	0.11
IGL03163:Creb3	APN	4	43,566,315 (GRCm39)	missense	probably damaging	1.00
P0014:Creb3	UTSW	4	43,563,265 (GRCm39)	missense	possibly damaging	0.53
PIT4362001:Creb3	UTSW	4	43,565,472 (GRCm39)	nonsense	probably null
R0959:Creb3	UTSW	4	43,563,509 (GRCm39)	missense	probably damaging	1.00
R1506:Creb3	UTSW	4	43,566,193 (GRCm39)	missense	possibly damaging	0.95
R1624:Creb3	UTSW	4	43,566,375 (GRCm39)	missense	possibly damaging	0.67
R1693:Creb3	UTSW	4	43,566,755 (GRCm39)	missense	probably damaging	1.00
R1794:Creb3	UTSW	4	43,563,302 (GRCm39)	missense	probably benign	0.06
R1956:Creb3	UTSW	4	43,563,279 (GRCm39)	critical splice acceptor site	probably null
R1991:Creb3	UTSW	4	43,565,327 (GRCm39)	missense	probably damaging	1.00
R2179:Creb3	UTSW	4	43,566,306 (GRCm39)	missense	probably damaging	1.00
R3811:Creb3	UTSW	4	43,565,501 (GRCm39)	nonsense	probably null
R4673:Creb3	UTSW	4	43,563,192 (GRCm39)	missense	probably benign	0.20
R4713:Creb3	UTSW	4	43,563,247 (GRCm39)	missense	probably benign	0.00
R5613:Creb3	UTSW	4	43,566,196 (GRCm39)	missense	probably benign	0.41
R7673:Creb3	UTSW	4	43,563,117 (GRCm39)	missense	not run
R7829:Creb3	UTSW	4	43,566,322 (GRCm39)	missense	probably damaging	1.00
R7872:Creb3	UTSW	4	43,563,332 (GRCm39)	missense	probably benign	0.04
R8726:Creb3	UTSW	4	43,566,747 (GRCm39)	missense	probably benign	0.31
R9477:Creb3	UTSW	4	43,566,298 (GRCm39)	missense	probably damaging	1.00
R9673:Creb3	UTSW	4	43,563,191 (GRCm39)	missense	probably damaging	0.97
R9706:Creb3	UTSW	4	43,565,520 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTCCCTTCTAGATCAACTGAGGAAG -3'
(R):5'- TTCGGCTGATGATCGTCCTC -3'

Sequencing Primer
(F):5'- CTTCAAGCCATGGTGATTGAGATAGC -3'
(R):5'- CTGATGATCGTCCTCGCTGG -3'

Posted On

2018-02-27