Mutagenetix > Incidental Mutation

Incidental Mutation 'R7716:Creb1'

594893

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

045774-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R7716 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64571963-64643707 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 64605420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 62 (D62E)

Ref Sequence

ENSEMBL: ENSMUSP00000132860 (fasta)

Gene Model

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

AlphaFold

Q01147

Predicted Effect

probably benign
Transcript: ENSMUST00000049932
AA Change: D116E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000059973
Gene: ENSMUSG00000025958
AA Change: D116E

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

possibly damaging
Transcript: ENSMUST00000087366
AA Change: D102E

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000084624
Gene: ENSMUSG00000025958
AA Change: D102E

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

possibly damaging
Transcript: ENSMUST00000171164
AA Change: D62E

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132860
Gene: ENSMUSG00000025958
AA Change: D62E

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

possibly damaging
Transcript: ENSMUST00000185594
AA Change: D102E

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139995
Gene: ENSMUSG00000025958
AA Change: D102E

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 benign
Transcript: ENSMUST00000187811
AA Change: D102E

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000140649
Gene: ENSMUSG00000025958
AA Change: D102E

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 benign
Transcript: ENSMUST00000190348
AA Change: D116E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000140112
Gene: ENSMUSG00000025958
AA Change: D116E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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 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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	G	A	3: 68,777,162 (GRCm39)	C41Y	possibly damaging	Het
Abcg1	A	G	17: 31,328,493 (GRCm39)	I421V	probably benign	Het
Ank2	G	T	3: 126,736,815 (GRCm39)	T3023K	unknown	Het
Asb5	T	A	8: 55,038,021 (GRCm39)	H181Q	probably benign	Het
Asnsd1	C	T	1: 53,386,902 (GRCm39)	V242I	probably benign	Het
Atp2a1	C	A	7: 126,061,359 (GRCm39)	G46V	possibly damaging	Het
Birc6	A	G	17: 74,869,056 (GRCm39)	S335G	probably damaging	Het
Bmp1	A	T	14: 70,715,362 (GRCm39)	Y924*	probably null	Het
Ccdc3	T	A	2: 5,143,113 (GRCm39)	F123L	probably benign	Het
Col6a6	C	A	9: 105,661,102 (GRCm39)	V336L	possibly damaging	Het
Cpe	T	C	8: 65,064,431 (GRCm39)	Y256C	probably damaging	Het
Cyp4a32	T	A	4: 115,458,283 (GRCm39)	Y38N	probably damaging	Het
Cyren	T	C	6: 34,852,516 (GRCm39)	N60D	possibly damaging	Het
Dnajc1	A	G	2: 18,224,684 (GRCm39)	S390P	probably benign	Het
Edrf1	G	A	7: 133,245,455 (GRCm39)	E198K	probably damaging	Het
Ehmt1	A	G	2: 24,774,511 (GRCm39)	S98P	probably damaging	Het
Emsy	G	A	7: 98,248,973 (GRCm39)	A812V	unknown	Het
Eppk1	A	T	15: 75,991,703 (GRCm39)	L1726*	probably null	Het
Flnb	G	T	14: 7,917,274 (GRCm38)	K1584N	possibly damaging	Het
Gclc	C	T	9: 77,662,209 (GRCm39)	R40W	probably damaging	Het
Gnpat	A	G	8: 125,603,673 (GRCm39)	R194G	probably benign	Het
Gpd1	G	A	15: 99,619,967 (GRCm39)	S255N	probably damaging	Het
Il17re	T	C	6: 113,439,930 (GRCm39)		probably null	Het
Inpp5d	G	A	1: 87,593,121 (GRCm39)	V74I	probably damaging	Het
Iqcb1	T	C	16: 36,687,969 (GRCm39)	S443P	probably benign	Het
Irak2	AC	ACC	6: 113,667,859 (GRCm39)		probably null	Het
Kansl1l	A	G	1: 66,840,292 (GRCm39)	V336A	probably damaging	Het
Klhdc4	T	A	8: 122,556,159 (GRCm39)	M21L	unknown	Het
Lgalsl2	T	C	7: 5,362,819 (GRCm39)	I150T	possibly damaging	Het
Lrguk	C	T	6: 34,072,474 (GRCm39)	A588V	probably damaging	Het
Marchf5	T	C	19: 37,197,822 (GRCm39)	Y164H	probably benign	Het
Mbip	T	A	12: 56,392,473 (GRCm39)	H38L	probably benign	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,427,071 (GRCm39)		probably benign	Het
Myh8	A	T	11: 67,189,478 (GRCm39)	Q1218L	possibly damaging	Het
Ndc80	A	T	17: 71,830,589 (GRCm39)	I56K	probably benign	Het
Ndufs1	T	C	1: 63,192,016 (GRCm39)	D437G	possibly damaging	Het
Nlrc4	A	G	17: 74,753,651 (GRCm39)	L244P	probably damaging	Het
Or11h6	A	G	14: 50,879,815 (GRCm39)	T20A	probably benign	Het
Or14a258	A	T	7: 86,035,262 (GRCm39)	M202K	probably benign	Het
Pdc	A	C	1: 150,206,534 (GRCm39)	D40A	probably benign	Het
Pdzd2	T	C	15: 12,373,460 (GRCm39)	Y2225C	possibly damaging	Het
Plce1	G	T	19: 38,705,295 (GRCm39)	G900V	probably benign	Het
Plpp1	A	T	13: 112,993,323 (GRCm39)	H86L	probably benign	Het
Plpp1	T	G	13: 112,996,186 (GRCm39)	F168C	probably damaging	Het
Pms1	G	A	1: 53,246,767 (GRCm39)	P312S	probably damaging	Het
Prf1	G	A	10: 61,135,934 (GRCm39)	R70H	possibly damaging	Het
Pygo1	A	G	9: 72,850,208 (GRCm39)	D19G	probably damaging	Het
Sdr42e1	T	A	8: 118,400,386 (GRCm39)		probably benign	Het
Serpinb8	C	T	1: 107,532,438 (GRCm39)	R177*	probably null	Het
Serpini1	A	C	3: 75,524,021 (GRCm39)	S210R	probably damaging	Het
Slc29a4	C	T	5: 142,704,261 (GRCm39)	P305L	probably benign	Het
Smco3	T	A	6: 136,808,247 (GRCm39)	Y209F	probably damaging	Het
Smtn	C	G	11: 3,474,708 (GRCm39)	S216T	probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Sri	T	A	5: 8,106,641 (GRCm39)		probably null	Het
Strn	G	A	17: 78,963,204 (GRCm39)	P716L	probably damaging	Het
Tmem167b	T	C	3: 108,466,213 (GRCm39)	Y69C	probably damaging	Het
Trpc7	A	T	13: 56,937,573 (GRCm39)	F628I	probably damaging	Het
Trrap	T	A	5: 144,713,956 (GRCm39)	I65N	possibly damaging	Het
Tspan14	C	A	14: 40,633,090 (GRCm39)	G201C	probably damaging	Het
Tti1	T	A	2: 157,842,618 (GRCm39)	I804F	probably benign	Het
Unc5b	C	T	10: 60,613,217 (GRCm39)	G340R	probably damaging	Het
Usp13	C	A	3: 32,892,005 (GRCm39)	Y61*	probably null	Het
Vmn1r230	T	C	17: 21,067,144 (GRCm39)	M111T	possibly damaging	Het
Vmn2r26	T	A	6: 124,038,704 (GRCm39)	Y760N	probably damaging	Het
Vmn2r87	A	G	10: 130,308,018 (GRCm39)	V740A	probably benign	Het
Zbtb14	A	G	17: 69,694,415 (GRCm39)	I38V	probably benign	Het
Zfp623	T	C	15: 75,820,271 (GRCm39)	I409T	probably damaging	Het
Zfp764l1	T	A	7: 126,991,259 (GRCm39)	M243L	probably benign	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
R0506:Creb1	UTSW	1	64,609,426 (GRCm39)	missense	probably damaging	1.00
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
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'- TCCATGGCATCATGTTAGTCTG -3'
(R):5'- ATGTCCTACAGCTGCCAGAG -3'

Sequencing Primer
(F):5'- CATGGCATCATGTTAGTCTGTAGGAG -3'
(R):5'- GTTTTCAGGGATCGCAAACC -3'

Posted On

2019-11-12