Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02475:Creb5'

294907

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Creb5

Ensembl Gene

ENSMUSG00000053007

Gene Name

cAMP responsive element binding protein 5

Synonyms

D430026C09Rik, Crebpa, 9430076C15Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02475

Quality Score

Status

Chromosome

Chromosomal Location

53264255-53677361 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 53670909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 304 (S304N)

Ref Sequence

ENSEMBL: ENSMUSP00000144719 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000047450
AA Change: S448N

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000038532
Gene: ENSMUSG00000053007
AA Change: S448N

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

probably benign
Transcript: ENSMUST00000203487
AA Change: S455N

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000144851
Gene: ENSMUSG00000053007
AA Change: S455N

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 benign
Transcript: ENSMUST00000203528
AA Change: S448N

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000144979
Gene: ENSMUSG00000053007
AA Change: S448N

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

probably damaging
Transcript: ENSMUST00000205120
AA Change: S304N

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144719
Gene: ENSMUSG00000053007
AA Change: S304N

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

Coding Region Coverage

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,119,343 (GRCm39)		probably benign	Het
5730409E04Rik	A	G	4: 126,505,742 (GRCm39)	E90G	probably damaging	Het
Abhd6	T	A	14: 8,039,849 (GRCm38)	I27N	probably damaging	Het
Akap6	A	T	12: 53,186,277 (GRCm39)	E1230D	probably benign	Het
Bcl2l12	A	G	7: 44,646,317 (GRCm39)	V31A	possibly damaging	Het
Cep350	G	A	1: 155,738,341 (GRCm39)	R2501W	probably damaging	Het
Cnga3	A	G	1: 37,297,072 (GRCm39)		probably null	Het
Crcp	T	C	5: 130,088,699 (GRCm39)		probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dnah5	A	G	15: 28,219,296 (GRCm39)	D38G	probably benign	Het
Fam171a1	A	G	2: 3,224,527 (GRCm39)	I293V	possibly damaging	Het
Fbxw10	T	C	11: 62,748,561 (GRCm39)	V396A	possibly damaging	Het
Gm10340	G	A	14: 14,832,274 (GRCm39)		probably benign	Het
Grik3	A	G	4: 125,544,310 (GRCm39)	T344A	probably benign	Het
Itga7	T	C	10: 128,769,958 (GRCm39)	F34S	probably damaging	Het
Musk	T	C	4: 58,353,936 (GRCm39)		probably benign	Het
Neb	G	T	2: 52,182,831 (GRCm39)	N1038K	probably damaging	Het
Nf1	T	C	11: 79,426,493 (GRCm39)	Y1636H	probably damaging	Het
Ngef	G	T	1: 87,406,872 (GRCm39)	T632K	possibly damaging	Het
Nme1nme2	A	G	11: 93,846,400 (GRCm39)	V16A	probably damaging	Het
Nts	A	G	10: 102,326,108 (GRCm39)		probably benign	Het
Olfml2b	A	G	1: 170,509,743 (GRCm39)	D697G	probably damaging	Het
Or5ac23	A	T	16: 59,149,088 (GRCm39)	H261Q	probably benign	Het
Or5m8	T	C	2: 85,822,376 (GRCm39)	F72L	probably benign	Het
Or9i1	T	A	19: 13,839,663 (GRCm39)	C169S	probably damaging	Het
Otof	T	C	5: 30,534,026 (GRCm39)	R1428G	probably damaging	Het
Pgghg	T	C	7: 140,525,633 (GRCm39)	S479P		Het
Rnaseh2b	T	A	14: 62,584,064 (GRCm39)	F37I	probably damaging	Het
Rtn4	T	A	11: 29,683,801 (GRCm39)	I1031N	probably damaging	Het
Rxfp2	A	G	5: 149,987,151 (GRCm39)	E344G	probably benign	Het
Scel	A	G	14: 103,774,444 (GRCm39)	R89G	possibly damaging	Het
Sirt4	T	C	5: 115,621,055 (GRCm39)	E39G	probably benign	Het
Slc6a12	T	A	6: 121,331,334 (GRCm39)		probably null	Het
Snapc3	C	A	4: 83,368,333 (GRCm39)	H277N	probably benign	Het
Susd2	A	G	10: 75,473,333 (GRCm39)		probably null	Het
Tagap1	T	C	17: 7,223,826 (GRCm39)	Q290R	probably benign	Het
Tenm3	A	T	8: 48,732,233 (GRCm39)		probably benign	Het
Tmem54	A	T	4: 129,002,073 (GRCm39)	H40L	probably damaging	Het
Tnks1bp1	T	C	2: 84,889,721 (GRCm39)	S683P	probably damaging	Het
Tnpo2	A	G	8: 85,777,131 (GRCm39)	D547G	probably benign	Het
Tpd52l2	G	A	2: 181,141,667 (GRCm39)	V17M	probably benign	Het
Trip11	T	A	12: 101,861,942 (GRCm39)	T208S	probably benign	Het
Ttc17	C	A	2: 94,194,721 (GRCm39)	D551Y	probably damaging	Het
Ttll12	A	T	15: 83,471,302 (GRCm39)	W222R	probably damaging	Het
Xkr8	A	T	4: 132,455,512 (GRCm39)	I287N	probably damaging	Het
Zdhhc2	G	T	8: 40,926,066 (GRCm39)	G354C	probably null	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	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
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
R4809:Creb5	UTSW	6	53,587,411 (GRCm39)	missense	probably null	0.71
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

Posted On

2015-04-16