Mutagenetix > Incidental Mutation

Incidental Mutation 'R4809:Creb5'

370896

Institutional Source

Beutler Lab

Gene Symbol

Creb5

Ensembl Gene

ENSMUSG00000053007

Gene Name

cAMP responsive element binding protein 5

Synonyms

D430026C09Rik, Crebpa, 9430076C15Rik

MMRRC Submission

042428-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4809 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53264255-53677361 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53587411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 47 (E47V)

Ref Sequence

ENSEMBL: ENSMUSP00000144925 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047450] [ENSMUST00000203487] [ENSMUST00000203528] [ENSMUST00000203641] [ENSMUST00000205120]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000047450
AA Change: E192V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000038532
Gene: ENSMUSG00000053007
AA Change: E192V

Domain	Start	End	E-Value	Type
low complexity region	117	178	N/A	INTRINSIC
low complexity region	196	211	N/A	INTRINSIC
BRLZ	222	286	1.91e-20	SMART
low complexity region	304	318	N/A	INTRINSIC
low complexity region	329	344	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203487
AA Change: E199V

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144851
Gene: ENSMUSG00000053007
AA Change: E199V

Domain	Start	End	E-Value	Type
ZnF_C2H2	16	40	7.9e-5	SMART
low complexity region	268	329	N/A	INTRINSIC
low complexity region	347	362	N/A	INTRINSIC
BRLZ	373	437	8e-23	SMART
low complexity region	455	469	N/A	INTRINSIC
low complexity region	480	495	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000203528
AA Change: E192V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144979
Gene: ENSMUSG00000053007
AA Change: E192V

Domain	Start	End	E-Value	Type
ZnF_C2H2	9	33	7.9e-5	SMART
low complexity region	261	322	N/A	INTRINSIC
low complexity region	340	355	N/A	INTRINSIC
BRLZ	366	430	8e-23	SMART
low complexity region	448	462	N/A	INTRINSIC
low complexity region	473	488	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203575

Predicted Effect

probably null
Transcript: ENSMUST00000203641
AA Change: E47V

PolyPhen 2 Score 0.709 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204096

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204245

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205120
AA Change: E48V

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144719
Gene: ENSMUSG00000053007
AA Change: E48V

Domain	Start	End	E-Value	Type
low complexity region	117	178	N/A	INTRINSIC
low complexity region	196	211	N/A	INTRINSIC
BRLZ	222	286	1.91e-20	SMART
low complexity region	304	318	N/A	INTRINSIC
low complexity region	329	344	N/A	INTRINSIC

Meta Mutation Damage Score

0.1663

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

96% (96/100)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the CRE (cAMP response element)-binding protein family. Members of this family contain zinc-finger and bZIP DNA-binding domains. The encoded protein specifically binds to CRE as a homodimer or a heterodimer with c-Jun or CRE-BP1, and functions as a CRE-dependent trans-activator. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display neonatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,384,588 (GRCm39)	V459A	probably benign	Het
Abca12	C	T	1: 71,318,015 (GRCm39)	A1840T	probably benign	Het
Abhd6	T	G	14: 8,039,771 (GRCm38)	M1R	probably null	Het
Abl1	T	C	2: 31,690,254 (GRCm39)	L572P	probably damaging	Het
Adamts2	C	A	11: 50,694,517 (GRCm39)	S1101R	probably benign	Het
Adgra2	G	A	8: 27,600,507 (GRCm39)	W200*	probably null	Het
AI661453	C	A	17: 47,778,112 (GRCm39)		probably benign	Het
Aldh1l2	A	G	10: 83,342,496 (GRCm39)	F438S	probably damaging	Het
Ankrd49	G	A	9: 14,692,510 (GRCm39)	T218I	possibly damaging	Het
Ano7	T	C	1: 93,322,288 (GRCm39)	F410L	probably benign	Het
Aox4	T	A	1: 58,305,808 (GRCm39)	F1271I	probably damaging	Het
Aqr	T	C	2: 114,005,695 (GRCm39)		probably benign	Het
Arhgap42	A	G	9: 9,180,118 (GRCm39)	S54P	probably damaging	Het
Aunip	C	A	4: 134,238,450 (GRCm39)	D16E	possibly damaging	Het
Btbd7	A	G	12: 102,760,003 (GRCm39)		probably null	Het
Cabp4	T	C	19: 4,189,290 (GRCm39)	H89R	probably benign	Het
Ccni	AAA	AAACTAA	5: 93,335,429 (GRCm39)		probably benign	Het
Chfr	C	T	5: 110,306,700 (GRCm39)	H410Y	probably damaging	Het
Churc1	C	A	12: 76,829,671 (GRCm39)	L111M	probably damaging	Het
Clasp1	C	T	1: 118,388,980 (GRCm39)	T113I	probably benign	Het
Col12a1	T	A	9: 79,600,849 (GRCm39)	Q745L	probably benign	Het
Col20a1	T	C	2: 180,640,454 (GRCm39)	L537P	probably damaging	Het
Csnk1d	A	T	11: 120,854,668 (GRCm39)		probably benign	Het
Cts6	A	T	13: 61,349,995 (GRCm39)	W29R	probably damaging	Het
Dbt	T	A	3: 116,339,992 (GRCm39)	I420N	probably damaging	Het
Det1	C	A	7: 78,493,555 (GRCm39)	D150Y	probably damaging	Het
Dlk2	A	G	17: 46,609,940 (GRCm39)		probably null	Het
Dnmt3a	A	T	12: 3,950,352 (GRCm39)	I639F	probably damaging	Het
Dock9	A	T	14: 121,784,008 (GRCm39)	Y1989N	probably benign	Het
Dsg4	A	T	18: 20,599,678 (GRCm39)	T765S	possibly damaging	Het
Entrep2	G	A	7: 64,426,488 (GRCm39)	T159I	probably damaging	Het
Epha5	C	T	5: 84,253,750 (GRCm39)	D548N	possibly damaging	Het
Fam227b	T	A	2: 125,958,045 (GRCm39)	Y240F	possibly damaging	Het
Fbxw21	C	T	9: 108,972,458 (GRCm39)	V395I	probably damaging	Het
Fn1	C	A	1: 71,691,959 (GRCm39)		probably benign	Het
Fpr-rs3	A	T	17: 20,844,683 (GRCm39)	S153T	probably benign	Het
Frem2	A	G	3: 53,561,316 (GRCm39)	F1064L	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gjd2	C	T	2: 113,842,022 (GRCm39)	G152R	probably damaging	Het
Gpr75	T	C	11: 30,842,154 (GRCm39)	I353T	possibly damaging	Het
Grb7	T	C	11: 98,342,262 (GRCm39)	V145A	possibly damaging	Het
Igkv4-73	G	A	6: 69,174,807 (GRCm39)	R40W	unknown	Het
Kif1c	C	T	11: 70,617,183 (GRCm39)	A839V	probably benign	Het
Krt31	G	A	11: 99,940,748 (GRCm39)	A125V	possibly damaging	Het
Lamb1	A	G	12: 31,328,525 (GRCm39)	Y163C	probably damaging	Het
Mars1	G	T	10: 127,136,084 (GRCm39)	T535K	probably damaging	Het
Mdc1	T	C	17: 36,159,993 (GRCm39)		probably null	Het
Micos10	C	G	4: 138,858,268 (GRCm39)	W10S	probably damaging	Het
Micu1	C	T	10: 59,576,644 (GRCm39)	H167Y	probably benign	Het
Mrgprb1	C	T	7: 48,097,739 (GRCm39)	V58I	possibly damaging	Het
Ncoa7	T	A	10: 30,647,758 (GRCm39)	E6V	possibly damaging	Het
Nectin3	A	C	16: 46,268,523 (GRCm39)		probably benign	Het
Or13a18	A	G	7: 140,190,987 (GRCm39)	K295E	probably damaging	Het
Or4k44	C	T	2: 111,367,956 (GRCm39)	C226Y	probably benign	Het
Or52ab7	T	A	7: 102,977,730 (GRCm39)	Y12*	probably null	Het
Or8k38	T	A	2: 86,488,029 (GRCm39)	M258L	possibly damaging	Het
Pex16	T	C	2: 92,206,983 (GRCm39)	S54P	probably damaging	Het
Pik3cg	A	T	12: 32,254,080 (GRCm39)	S636T	possibly damaging	Het
Plin5	A	G	17: 56,423,855 (GRCm39)	S27P	probably benign	Het
Ptch1	A	T	13: 63,661,522 (GRCm39)	D1068E	probably damaging	Het
Ptprq	T	C	10: 107,399,036 (GRCm39)	T1960A	probably damaging	Het
Rap1gap2	T	C	11: 74,298,800 (GRCm39)		probably benign	Het
Rcc2	G	A	4: 140,444,353 (GRCm39)	R348Q	probably damaging	Het
Rhbdd3	C	A	11: 5,055,949 (GRCm39)	A377D	probably damaging	Het
Rpl7	T	G	1: 16,172,189 (GRCm39)		probably benign	Het
Scn11a	G	T	9: 119,648,936 (GRCm39)	D42E	probably benign	Het
Scube3	C	T	17: 28,384,147 (GRCm39)	R549W	probably damaging	Het
Sil1	A	T	18: 35,458,428 (GRCm39)	M189K	probably damaging	Het
Slc39a6	G	A	18: 24,718,531 (GRCm39)	Q225*	probably null	Het
Slc7a15	A	T	12: 8,589,002 (GRCm39)	C182S	probably benign	Het
Spata21	G	A	4: 140,824,431 (GRCm39)		probably null	Het
Stim2	T	C	5: 54,267,955 (GRCm39)	V417A	probably damaging	Het
Szt2	T	C	4: 118,246,182 (GRCm39)	D993G	probably damaging	Het
Tet3	A	G	6: 83,379,928 (GRCm39)	S747P	probably benign	Het
Tmem86a	C	G	7: 46,702,678 (GRCm39)	S34R	possibly damaging	Het
Top2b	T	A	14: 16,383,125 (GRCm38)	S38T	probably benign	Het
Trim33	A	T	3: 103,236,572 (GRCm39)	T561S	possibly damaging	Het
Ttc39a	C	T	4: 109,273,218 (GRCm39)	Q25*	probably null	Het
Urb1	A	G	16: 90,556,730 (GRCm39)	I1816T	possibly damaging	Het
Usp24	T	C	4: 106,270,873 (GRCm39)		probably null	Het
Usp36	A	C	11: 118,153,896 (GRCm39)	L840R	probably damaging	Het
Usp50	C	A	2: 126,619,773 (GRCm39)		probably benign	Het
Vangl2	A	G	1: 171,837,230 (GRCm39)	V193A	possibly damaging	Het
Vmn1r62	T	A	7: 5,678,866 (GRCm39)	H182Q	probably benign	Het
Vmn2r124	A	T	17: 18,294,007 (GRCm39)	Y698F	probably benign	Het
Wls	C	T	3: 159,603,082 (GRCm39)	T165I	probably benign	Het
Zfp808	G	T	13: 62,319,106 (GRCm39)	E112*	probably null	Het

Other mutations in Creb5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02114:Creb5	APN	6	53,581,443 (GRCm39)	splice site	probably benign
IGL02475:Creb5	APN	6	53,670,909 (GRCm39)	missense	probably damaging	0.98
IGL02663:Creb5	APN	6	53,657,946 (GRCm39)	missense	probably damaging	0.99
R0054:Creb5	UTSW	6	53,424,642 (GRCm39)	missense	probably benign	0.27
R0452:Creb5	UTSW	6	53,581,527 (GRCm39)	missense	possibly damaging	0.94
R4580:Creb5	UTSW	6	53,581,519 (GRCm39)	missense	possibly damaging	0.46
R4957:Creb5	UTSW	6	53,670,907 (GRCm39)	critical splice acceptor site	probably null
R5375:Creb5	UTSW	6	53,658,002 (GRCm39)	missense	possibly damaging	0.79
R6552:Creb5	UTSW	6	53,662,369 (GRCm39)	missense	probably damaging	0.99
R6616:Creb5	UTSW	6	53,662,295 (GRCm39)	missense	possibly damaging	0.96
R6679:Creb5	UTSW	6	53,662,454 (GRCm39)	missense	possibly damaging	0.51
R6745:Creb5	UTSW	6	53,581,517 (GRCm39)	missense	probably benign	0.03
R7428:Creb5	UTSW	6	53,658,143 (GRCm39)	missense	unknown
R7581:Creb5	UTSW	6	53,658,222 (GRCm39)	missense	probably damaging	0.99
R8301:Creb5	UTSW	6	53,658,018 (GRCm39)	missense	possibly damaging	0.83
R9574:Creb5	UTSW	6	53,658,039 (GRCm39)	missense	unknown
X0065:Creb5	UTSW	6	53,662,386 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TCTCCAGAGAGCACAGAACTG -3'
(R):5'- AGGTTTGGAGTCAGAACAGAACTC -3'

Sequencing Primer
(F):5'- GTGCTCACGTTCAGTATTCAAGAG -3'
(R):5'- CAGTGTTACTACCACGCATGATG -3'

Posted On

2016-02-04