Mutagenetix > Incidental Mutation

Incidental Mutation 'R0506:Creb1'

47540

Institutional Source

Beutler Lab

Gene Symbol

Creb1

Ensembl Gene

ENSMUSG00000025958

Gene Name

cAMP responsive element binding protein 1

Synonyms

Creb, Creb-1, 2310001E10Rik, 3526402H21Rik

MMRRC Submission

038701-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R0506 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64571963-64643707 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 64609426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 180 (G180R)

Ref Sequence

ENSEMBL: ENSMUSP00000140112 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049932] [ENSMUST00000087366] [ENSMUST00000171164] [ENSMUST00000185594] [ENSMUST00000187811] [ENSMUST00000190348] [ENSMUST00000190876]

AlphaFold

Q01147

Predicted Effect

probably damaging
Transcript: ENSMUST00000049932
AA Change: G180R

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

SMART Domains

Protein: ENSMUSP00000059973
Gene: ENSMUSG00000025958
AA Change: G180R

Domain	Start	End	E-Value	Type
internal_repeat_1	16	89	5.16e-5	PROSPERO
Pfam:pKID	113	153	7.7e-24	PFAM
low complexity region	162	174	N/A	INTRINSIC
internal_repeat_1	184	260	5.16e-5	PROSPERO
BRLZ	281	339	1.25e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000087366
AA Change: G166R

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

SMART Domains

Protein: ENSMUSP00000084624
Gene: ENSMUSG00000025958
AA Change: G166R

Domain	Start	End	E-Value	Type
internal_repeat_1	16	90	1.46e-5	PROSPERO
Pfam:pKID	99	141	5.3e-24	PFAM
low complexity region	148	160	N/A	INTRINSIC
internal_repeat_1	170	247	1.46e-5	PROSPERO
BRLZ	267	325	1.25e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000171164
AA Change: G126R

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

SMART Domains

Protein: ENSMUSP00000132860
Gene: ENSMUSG00000025958
AA Change: G126R

Domain	Start	End	E-Value	Type
Pfam:pKID	59	101	9e-24	PFAM
low complexity region	108	120	N/A	INTRINSIC
BRLZ	227	285	1.25e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000185594
AA Change: G166R

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

SMART Domains

Protein: ENSMUSP00000139995
Gene: ENSMUSG00000025958
AA Change: G166R

Domain	Start	End	E-Value	Type
internal_repeat_1	16	90	1.46e-5	PROSPERO
Pfam:pKID	99	141	5.3e-24	PFAM
low complexity region	148	160	N/A	INTRINSIC
internal_repeat_1	170	247	1.46e-5	PROSPERO
BRLZ	267	325	1.25e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186335

Predicted Effect

probably damaging
Transcript: ENSMUST00000187811
AA Change: G166R

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

SMART Domains

Protein: ENSMUSP00000140649
Gene: ENSMUSG00000025958
AA Change: G166R

Domain	Start	End	E-Value	Type
Pfam:pKID	99	141	3.8e-21	PFAM
low complexity region	148	160	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000190348
AA Change: G180R

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

SMART Domains

Protein: ENSMUSP00000140112
Gene: ENSMUSG00000025958
AA Change: G180R

Domain	Start	End	E-Value	Type
internal_repeat_1	16	89	5.16e-5	PROSPERO
Pfam:pKID	113	155	1.2e-23	PFAM
low complexity region	162	174	N/A	INTRINSIC
internal_repeat_1	184	260	5.16e-5	PROSPERO
BRLZ	281	339	1.25e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000190876

Meta Mutation Damage Score

0.7252

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (100/100)

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 as a homodimer to the cAMP-responsive element, an octameric palindrome. The protein is phosphorylated by several protein kinases, and induces transcription of genes in response to hormonal stimulation of the cAMP pathway. Alternate splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for alleles lacking some or all isotypes exhibit a range of defects involving circadian rhythms, axonal growth, sensory neuron survival, long-term memory, fear conditioning, body size, respiration, and neonatal viability. [provided by MGI curators]

Allele List at MGI

All alleles(85) : Targeted, knock-out(2) Targeted, other(7) Gene trapped(76)

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm5	T	A	7: 119,137,319 (GRCm39)	C378*	probably null	Het
Ago3	T	C	4: 126,311,045 (GRCm39)	D56G	possibly damaging	Het
Ahnak	G	T	19: 8,986,492 (GRCm39)	G2592V	probably damaging	Het
Aldh6a1	C	T	12: 84,480,300 (GRCm39)	G470D	probably damaging	Het
Ankub1	T	A	3: 57,597,796 (GRCm39)	N58I	probably damaging	Het
Apol7b	G	T	15: 77,309,728 (GRCm39)	T23K	probably benign	Het
Arap2	G	A	5: 62,763,474 (GRCm39)	P1557S	possibly damaging	Het
Arhgap24	T	C	5: 103,023,643 (GRCm39)	Y136H	probably damaging	Het
Atp1a1	A	G	3: 101,497,128 (GRCm39)	F393L	probably damaging	Het
Bcdin3d	A	T	15: 99,368,873 (GRCm39)	C109S	probably damaging	Het
Catsperd	A	G	17: 56,965,078 (GRCm39)	K475R	possibly damaging	Het
Cblb	A	G	16: 52,024,843 (GRCm39)	T913A	probably benign	Het
Cbx6	A	G	15: 79,712,404 (GRCm39)	L341P	probably benign	Het
Cd177	T	C	7: 24,457,781 (GRCm39)	Y159C	probably damaging	Het
Cdh20	A	G	1: 110,027,844 (GRCm39)	N530D	probably damaging	Het
Cdk8	T	C	5: 146,235,682 (GRCm39)	F270L	probably damaging	Het
Ces2c	A	T	8: 105,574,656 (GRCm39)	T38S	probably damaging	Het
Chst14	T	C	2: 118,758,202 (GRCm39)	L357P	probably damaging	Het
Clca3b	T	A	3: 144,528,627 (GRCm39)		probably benign	Het
Cluh	A	G	11: 74,555,720 (GRCm39)	S839G	probably benign	Het
Cnga4	T	A	7: 105,056,947 (GRCm39)	V350E	probably damaging	Het
Csmd3	T	C	15: 48,320,907 (GRCm39)	E301G	probably benign	Het
Cyp4f18	A	T	8: 72,749,844 (GRCm39)	D268E	probably benign	Het
Dock5	A	G	14: 68,022,241 (GRCm39)		probably benign	Het
Dpy19l4	T	A	4: 11,289,715 (GRCm39)	H332L	probably benign	Het
Dync2h1	T	A	9: 7,113,153 (GRCm39)	H224L	probably benign	Het
Dzip1l	C	A	9: 99,545,134 (GRCm39)	Q585K	possibly damaging	Het
Erf	C	T	7: 24,943,801 (GRCm39)	G510D	probably damaging	Het
Fanci	T	C	7: 79,081,926 (GRCm39)	L623P	probably benign	Het
Fat1	T	C	8: 45,475,988 (GRCm39)	V1655A	probably damaging	Het
Fat4	T	C	3: 38,942,463 (GRCm39)	V452A	probably benign	Het
Gal3st4	C	T	5: 138,264,151 (GRCm39)	G283S	probably benign	Het
Gm5422	A	G	10: 31,126,318 (GRCm39)		noncoding transcript	Het
Gnal	C	T	18: 67,221,744 (GRCm39)	T49I	unknown	Het
Gng5	A	G	3: 146,209,103 (GRCm39)	N57S	probably damaging	Het
Herc1	A	G	9: 66,355,441 (GRCm39)	I2231V	probably damaging	Het
Hgfac	G	T	5: 35,201,584 (GRCm39)	G272W	probably damaging	Het
Hmcn1	T	A	1: 150,618,092 (GRCm39)	D1265V	possibly damaging	Het
Ifi207	T	A	1: 173,563,878 (GRCm39)	Q47L	possibly damaging	Het
Klhl40	G	A	9: 121,607,133 (GRCm39)	E98K	probably damaging	Het
Lepr	G	T	4: 101,630,207 (GRCm39)		probably benign	Het
Lyst	A	G	13: 13,812,600 (GRCm39)	H1004R	probably benign	Het
Map3k1	T	A	13: 111,892,298 (GRCm39)	R986*	probably null	Het
Mmp1b	C	A	9: 7,387,013 (GRCm39)	Q66H	possibly damaging	Het
Mpo	T	C	11: 87,694,330 (GRCm39)	S107P	probably benign	Het
Mroh9	T	C	1: 162,888,205 (GRCm39)	H290R	possibly damaging	Het
Myo7b	A	G	18: 32,097,439 (GRCm39)		probably null	Het
Myom1	T	C	17: 71,399,215 (GRCm39)		probably benign	Het
Nalcn	C	T	14: 123,834,026 (GRCm39)	V50I	possibly damaging	Het
Negr1	A	G	3: 156,866,385 (GRCm39)		probably benign	Het
Nlrc5	T	G	8: 95,219,753 (GRCm39)		probably benign	Het
Nyap2	G	A	1: 81,065,029 (GRCm39)	D14N	probably damaging	Het
Or10w1	T	A	19: 13,632,261 (GRCm39)	I151N	possibly damaging	Het
Or2h1	C	A	17: 37,404,203 (GRCm39)	G188W	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Parp14	A	T	16: 35,661,779 (GRCm39)	S1419T	possibly damaging	Het
Piezo2	A	G	18: 63,160,615 (GRCm39)	F2347S	probably damaging	Het
Pigf	A	G	17: 87,316,337 (GRCm39)	V147A	probably benign	Het
Pkhd1	A	T	1: 20,629,693 (GRCm39)	M637K	probably benign	Het
Plce1	T	C	19: 38,748,582 (GRCm39)	I1771T	probably benign	Het
Ppp6c	A	T	2: 39,096,660 (GRCm39)		probably benign	Het
Prag1	T	C	8: 36,570,854 (GRCm39)	V479A	possibly damaging	Het
Prss33	A	T	17: 24,054,079 (GRCm39)	D42E	probably benign	Het
Psmb10	A	G	8: 106,664,177 (GRCm39)	V64A	possibly damaging	Het
Psmd14	A	G	2: 61,630,407 (GRCm39)	T306A	probably benign	Het
Psmg1	C	T	16: 95,790,687 (GRCm39)		probably benign	Het
Rc3h2	A	T	2: 37,266,671 (GRCm39)		probably null	Het
Reln	C	T	5: 22,125,494 (GRCm39)	V2730I	probably damaging	Het
Sec24a	A	T	11: 51,634,622 (GRCm39)	H101Q	probably benign	Het
Selenoi	A	G	5: 30,471,954 (GRCm39)	N385S	probably benign	Het
Slc24a4	T	C	12: 102,097,882 (GRCm39)		probably null	Het
Slc4a10	G	A	2: 62,080,877 (GRCm39)	S338N	probably benign	Het
Slfn3	A	T	11: 83,103,986 (GRCm39)	T286S	probably damaging	Het
Snx29	A	G	16: 11,213,167 (GRCm39)	D111G	probably benign	Het
Sp8	T	C	12: 118,812,300 (GRCm39)	S52P	possibly damaging	Het
Srek1	G	T	13: 103,897,098 (GRCm39)	T81K	probably damaging	Het
Sry	C	G	Y: 2,662,864 (GRCm39)	Q265H	unknown	Het
Taf3	A	G	2: 9,945,804 (GRCm39)	V600A	probably benign	Het
Tatdn2	C	A	6: 113,679,550 (GRCm39)	D298E	probably benign	Het
Tmem253	A	T	14: 52,254,663 (GRCm39)		probably benign	Het
Tmem63a	T	A	1: 180,785,614 (GRCm39)		probably null	Het
Tmprss11b	T	C	5: 86,809,499 (GRCm39)	D331G	probably damaging	Het
Tor1aip1	T	A	1: 155,883,420 (GRCm39)	K143*	probably null	Het
Trappc8	A	T	18: 20,977,245 (GRCm39)	N841K	possibly damaging	Het
Trio	T	C	15: 27,855,049 (GRCm39)	Q711R	probably benign	Het
Trmt10b	C	A	4: 45,304,306 (GRCm39)	T114N	probably damaging	Het
Trpv2	C	A	11: 62,473,732 (GRCm39)	A129D	probably benign	Het
Ttll4	T	G	1: 74,727,777 (GRCm39)	D846E	probably benign	Het
Ugt2a3	A	G	5: 87,484,508 (GRCm39)	L172P	possibly damaging	Het
Usp19	T	A	9: 108,371,686 (GRCm39)	F355Y	probably damaging	Het
Vmn1r209	C	T	13: 22,990,114 (GRCm39)	G192D	probably damaging	Het
Vmn2r107	T	G	17: 20,578,021 (GRCm39)	D443E	probably benign	Het
Wee2	A	T	6: 40,440,187 (GRCm39)	E445V	probably benign	Het
Zer1	A	T	2: 29,991,819 (GRCm39)	I680N	probably damaging	Het
Zfhx4	T	C	3: 5,467,795 (GRCm39)	L2651P	probably damaging	Het
Zfp692	C	T	11: 58,199,881 (GRCm39)	Q157*	probably null	Het
Zfp964	T	A	8: 70,116,587 (GRCm39)	C396S	unknown	Het

Other mutations in Creb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01299:Creb1	APN	1	64,609,284 (GRCm39)	splice site	probably benign
IGL01991:Creb1	APN	1	64,598,913 (GRCm39)	missense	probably benign
IGL03137:Creb1	APN	1	64,615,374 (GRCm39)	missense	possibly damaging	0.95
IGL03408:Creb1	APN	1	64,615,491 (GRCm39)	splice site	probably null
1mM(1):Creb1	UTSW	1	64,613,330 (GRCm39)	nonsense	probably null
R0028:Creb1	UTSW	1	64,609,307 (GRCm39)	missense	probably damaging	0.96
R0069:Creb1	UTSW	1	64,615,367 (GRCm39)	missense	possibly damaging	0.91
R0069:Creb1	UTSW	1	64,615,367 (GRCm39)	missense	possibly damaging	0.91
R1834:Creb1	UTSW	1	64,590,109 (GRCm39)	nonsense	probably null
R1835:Creb1	UTSW	1	64,590,109 (GRCm39)	nonsense	probably null
R1836:Creb1	UTSW	1	64,590,109 (GRCm39)	nonsense	probably null
R7254:Creb1	UTSW	1	64,615,436 (GRCm39)	nonsense	probably null
R7716:Creb1	UTSW	1	64,605,420 (GRCm39)	missense	possibly damaging	0.94
R7934:Creb1	UTSW	1	64,609,372 (GRCm39)	missense	probably benign	0.01
R8275:Creb1	UTSW	1	64,597,687 (GRCm39)	missense	probably benign	0.20
R9005:Creb1	UTSW	1	64,605,478 (GRCm39)	critical splice donor site	probably null
R9431:Creb1	UTSW	1	64,615,413 (GRCm39)	missense	probably damaging	0.99
R9758:Creb1	UTSW	1	64,598,909 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACCACCACGCAATTCTTGCATTTG -3'
(R):5'- TACAGGCTGGCAAGCCAACATC -3'

Sequencing Primer
(F):5'- cacGCAATTCTTGCATTTGAAGTTC -3'
(R):5'- CATGAATCATGTAAGAGACATGGC -3'

Posted On

2013-06-12