Mutagenetix > Incidental Mutation

Incidental Mutation 'R7872:Creb3'

608166

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

045924-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.786) question?

Stock #

R7872 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43562658-43567061 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43563332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 119 (E119G)

Ref Sequence

ENSEMBL: ENSMUSP00000100008 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030187] [ENSMUST00000030189] [ENSMUST00000102944] [ENSMUST00000130353] [ENSMUST00000132631] [ENSMUST00000167751]

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: E119G

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000100008
Gene: ENSMUSG00000028466
AA Change: E119G

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

probably benign
Transcript: ENSMUST00000130353

SMART Domains

Protein: ENSMUSP00000119441
Gene: ENSMUSG00000028465

Domain	Start	End	E-Value	Type
Blast:B41	1	39	9e-7	BLAST
B41	82	241	6.58e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132631

Predicted Effect

probably benign
Transcript: ENSMUST00000167751
AA Change: E143G

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000129401
Gene: ENSMUSG00000028466
AA Change: E143G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
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 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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	C	T	19: 34,220,839 (GRCm39)	D290N	probably damaging	Het
Adam18	T	C	8: 25,101,116 (GRCm39)	D682G	probably benign	Het
Ankrd46	A	G	15: 36,485,989 (GRCm39)	V88A	possibly damaging	Het
Ankub1	T	A	3: 57,572,807 (GRCm39)	K305I	probably damaging	Het
Atrn	T	A	2: 130,812,147 (GRCm39)		probably null	Het
Bambi	A	T	18: 3,511,406 (GRCm39)	T76S	probably benign	Het
Cacna1a	T	A	8: 85,310,283 (GRCm39)	V1447E	probably damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Clcn2	A	G	16: 20,527,210 (GRCm39)	M629T	probably damaging	Het
Clcn4	T	C	7: 7,290,780 (GRCm39)	N673S	probably benign	Het
Col20a1	T	C	2: 180,628,371 (GRCm39)	F15S	probably benign	Het
Col2a1	G	A	15: 97,898,458 (GRCm39)	Q39*	probably null	Het
Dnah5	A	C	15: 28,245,830 (GRCm39)	D556A	probably damaging	Het
Edar	C	T	10: 58,446,348 (GRCm39)	M192I	possibly damaging	Het
Fam91a1	A	G	15: 58,320,209 (GRCm39)	M634V	probably benign	Het
Fbxo10	C	T	4: 45,051,699 (GRCm39)	V471I	not run	Het
Fer1l5	T	C	1: 36,460,967 (GRCm39)	F2032L	probably benign	Het
Gm5150	A	C	3: 16,060,485 (GRCm39)	M1R	probably null	Het
Grin1	T	C	2: 25,188,202 (GRCm39)	E509G	probably benign	Het
Igkv10-94	C	T	6: 68,681,913 (GRCm39)		probably benign	Het
Il18bp	A	G	7: 101,666,002 (GRCm39)	Y59H	possibly damaging	Het
Ints8	A	T	4: 11,254,062 (GRCm39)	C17S	probably benign	Het
Kcnmb1	T	C	11: 33,916,275 (GRCm39)	Y74H	probably damaging	Het
Kpna1	T	C	16: 35,843,565 (GRCm39)	V313A	probably benign	Het
Lrp4	C	T	2: 91,321,061 (GRCm39)	T1029I	possibly damaging	Het
Lrrc7	A	T	3: 158,059,099 (GRCm39)	C3S	probably damaging	Het
Lyst	C	A	13: 13,810,450 (GRCm39)	H707N	probably benign	Het
Map3k20	A	G	2: 72,202,098 (GRCm39)	K148R	probably damaging	Het
Mcidas	G	A	13: 113,135,521 (GRCm39)	G315S	probably damaging	Het
Miip	C	T	4: 147,947,375 (GRCm39)	G236S	probably benign	Het
Mocs1	T	A	17: 49,746,561 (GRCm39)	I177N	probably damaging	Het
Muc5b	A	G	7: 141,399,850 (GRCm39)	D441G	unknown	Het
Ncoa1	T	C	12: 4,328,186 (GRCm39)	N884S	probably benign	Het
Or12j4	A	G	7: 140,046,696 (GRCm39)	N194S	probably damaging	Het
Or51a39	A	G	7: 102,363,389 (GRCm39)	V77A	probably benign	Het
Padi6	A	T	4: 140,455,073 (GRCm39)	F621L	probably damaging	Het
Pde8b	C	A	13: 95,223,347 (GRCm39)	M197I	possibly damaging	Het
Pear1	T	A	3: 87,659,522 (GRCm39)	I771L	probably benign	Het
Poli	A	G	18: 70,655,891 (GRCm39)	L281P	probably damaging	Het
Prdm12	T	C	2: 31,530,231 (GRCm39)	W41R	probably damaging	Het
Prkdc	T	G	16: 15,532,870 (GRCm39)	S1500A	probably benign	Het
Prune2	T	A	19: 17,096,798 (GRCm39)	H767Q	probably benign	Het
Rasgef1b	G	A	5: 99,382,403 (GRCm39)	Q196*	probably null	Het
Rnpc3	A	T	3: 113,416,096 (GRCm39)	L121*	probably null	Het
Rpp14	A	G	14: 8,083,724 (GRCm38)	M1V	probably null	Het
Ryr2	T	A	13: 11,610,610 (GRCm39)	D4072V	probably damaging	Het
Sgms1	T	C	19: 32,102,765 (GRCm39)	H314R	probably damaging	Het
Six4	CT	C	12: 73,151,013 (GRCm39)		probably benign	Het
Slc37a3	A	T	6: 39,324,244 (GRCm39)	Y335N	probably damaging	Het
Tcp11l1	A	T	2: 104,536,837 (GRCm39)	H9Q	probably benign	Het
Tnrc6a	T	A	7: 122,779,057 (GRCm39)	M1256K	probably damaging	Het
Trpc6	A	G	9: 8,609,910 (GRCm39)	N126S	probably damaging	Het
Tut4	T	G	4: 108,374,715 (GRCm39)	C933G	probably damaging	Het
Ubr4	T	C	4: 139,120,373 (GRCm39)	F266S	possibly damaging	Het
Uimc1	A	G	13: 55,217,550 (GRCm39)	V424A	possibly damaging	Het
Utrn	T	C	10: 12,573,873 (GRCm39)	I1066V	probably benign	Het
Vmn1r204	A	G	13: 22,740,404 (GRCm39)	T12A	probably benign	Het
Vmn1r57	T	A	7: 5,223,613 (GRCm39)	I46N	possibly damaging	Het
Vmn1r91	T	C	7: 19,835,839 (GRCm39)	Y253H	probably benign	Het
Vmn2r14	T	A	5: 109,369,219 (GRCm39)	H118L	probably benign	Het
Zfp775	A	G	6: 48,597,404 (GRCm39)	K426R	probably benign	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
R6195:Creb3	UTSW	4	43,566,346 (GRCm39)	missense	probably benign	0.23
R7673:Creb3	UTSW	4	43,563,117 (GRCm39)	missense	not run
R7829:Creb3	UTSW	4	43,566,322 (GRCm39)	missense	probably damaging	1.00
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'- GGAGGTAGAGGATTTACTGAGCTC -3'
(R):5'- TTCCTCGGTCAGTATCAGCC -3'

Sequencing Primer
(F):5'- AGAGGATTTACTGAGCTCTCTGC -3'
(R):5'- GATCTTGGCTGCTGCAAA -3'

Posted On

2019-12-20