Mutagenetix > Incidental Mutation

Incidental Mutation 'R7428:Creb5'

576240

Institutional Source

Beutler Lab

Gene Symbol

Creb5

Ensembl Gene

ENSMUSG00000053007

Gene Name

cAMP responsive element binding protein 5

Synonyms

D430026C09Rik, Crebpa, 9430076C15Rik

MMRRC Submission

045506-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7428 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53264255-53677361 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 53658143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 158 (Q158K)

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: Q302K

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000038532
Gene: ENSMUSG00000053007
AA Change: Q302K

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: Q309K

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000144851
Gene: ENSMUSG00000053007
AA Change: Q309K

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: Q302K

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000144979
Gene: ENSMUSG00000053007
AA Change: Q302K

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

unknown
Transcript: ENSMUST00000205120
AA Change: Q158K

SMART Domains

Protein: ENSMUSP00000144719
Gene: ENSMUSG00000053007
AA Change: Q158K

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (71/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa10	T	A	8: 62,545,543 (GRCm39)	Y63F	probably benign	Het
Atl2	T	C	17: 80,183,227 (GRCm39)		probably null	Het
B3gnt4	A	G	5: 123,648,794 (GRCm39)	N53S	probably damaging	Het
Bpifb5	G	A	2: 154,067,042 (GRCm39)	M98I	probably benign	Het
Cacna2d3	A	G	14: 28,786,232 (GRCm39)	M585T	probably damaging	Het
Cbarp	T	C	10: 79,967,138 (GRCm39)	D701G	probably damaging	Het
Cep295	A	G	9: 15,244,794 (GRCm39)	S1221P	possibly damaging	Het
Cep350	T	C	1: 155,770,365 (GRCm39)	S1842G	probably benign	Het
Cntrl	T	A	2: 35,060,546 (GRCm39)	W1913R	probably benign	Het
Crtam	G	C	9: 40,892,478 (GRCm39)	A266G	probably benign	Het
Cry2	T	C	2: 92,243,392 (GRCm39)	D483G	possibly damaging	Het
Csmd1	A	G	8: 16,073,864 (GRCm39)	F2044L	possibly damaging	Het
Cxcr6	A	T	9: 123,639,305 (GRCm39)	Y109F	probably benign	Het
Cyb5b	A	G	8: 107,897,048 (GRCm39)	D106G	probably benign	Het
D630036H23Rik	T	C	12: 36,431,537 (GRCm39)	R154G	unknown	Het
Ddit4l	A	G	3: 137,331,931 (GRCm39)	E99G	probably damaging	Het
Dmbt1	A	T	7: 130,710,192 (GRCm39)	T1495S	possibly damaging	Het
Gm21886	A	T	18: 80,132,867 (GRCm39)	L97Q	probably damaging	Het
Hlcs	A	G	16: 94,068,758 (GRCm39)	V154A	probably benign	Het
Hpdl	A	T	4: 116,678,062 (GRCm39)	L133Q	probably damaging	Het
Inpp5f	A	G	7: 128,281,529 (GRCm39)	D510G	probably damaging	Het
Ism2	G	T	12: 87,333,769 (GRCm39)	T92K	possibly damaging	Het
Kif13b	T	C	14: 65,025,909 (GRCm39)	I1422T	probably benign	Het
Leng8	C	T	7: 4,146,572 (GRCm39)	R395W	probably damaging	Het
Mocs2	A	G	13: 114,957,400 (GRCm39)	I6V	probably benign	Het
Mthfr	A	G	4: 148,136,060 (GRCm39)	M378V	probably benign	Het
Myh13	A	G	11: 67,223,390 (GRCm39)	T237A	probably damaging	Het
Nr1h4	T	C	10: 89,334,267 (GRCm39)	E41G	probably benign	Het
Nup205	T	A	6: 35,204,494 (GRCm39)	I1460N	probably damaging	Het
Nup98	A	T	7: 101,784,208 (GRCm39)		probably null	Het
Nxpe5	A	C	5: 138,238,022 (GRCm39)	Y194S	probably damaging	Het
Or12e9	G	T	2: 87,202,034 (GRCm39)	V53L	probably benign	Het
Or52m1	A	G	7: 102,289,533 (GRCm39)	I27V	probably benign	Het
Or5m12	T	A	2: 85,734,475 (GRCm39)	R308*	probably null	Het
Or5m3	A	T	2: 85,838,563 (GRCm39)	I148L	probably benign	Het
Or9s18	A	G	13: 65,300,866 (GRCm39)	Y276C	probably damaging	Het
Otof	G	T	5: 30,547,169 (GRCm39)	D383E	probably damaging	Het
Pcdh9	G	T	14: 94,124,547 (GRCm39)	T541K	probably damaging	Het
Pclo	A	T	5: 14,800,531 (GRCm39)	I1179F		Het
Pde6c	T	C	19: 38,145,984 (GRCm39)		probably null	Het
Pdia6	T	C	12: 17,328,546 (GRCm39)	V167A	probably damaging	Het
Phf7	C	T	14: 30,962,370 (GRCm39)	R145Q	possibly damaging	Het
Plxnb1	T	C	9: 108,937,236 (GRCm39)	V1139A	probably benign	Het
Prkg1	T	C	19: 30,556,235 (GRCm39)	I585M	probably damaging	Het
Prom2	A	G	2: 127,381,731 (GRCm39)	L195P	probably damaging	Het
Ptprd	G	A	4: 76,004,705 (GRCm39)	P17S	probably benign	Het
Rfx4	C	A	10: 84,731,876 (GRCm39)	Q618K	probably benign	Het
Rhobtb1	T	A	10: 69,084,654 (GRCm39)	I15N	probably damaging	Het
Sap30	C	T	8: 57,940,546 (GRCm39)	V19M	possibly damaging	Het
Scrib	G	A	15: 75,933,047 (GRCm39)	T721M	probably damaging	Het
Slc12a1	C	A	2: 125,056,052 (GRCm39)	T861N	probably benign	Het
Slc35f1	T	A	10: 52,965,510 (GRCm39)	S308R	probably damaging	Het
Slc35f4	T	A	14: 49,536,355 (GRCm39)	I427F	probably damaging	Het
Slco4c1	T	C	1: 96,765,245 (GRCm39)	T402A	possibly damaging	Het
Sprr2f	G	A	3: 92,273,251 (GRCm39)	V17M	unknown	Het
Stab1	T	C	14: 30,881,216 (GRCm39)	T605A	probably benign	Het
Taar8c	A	C	10: 23,977,446 (GRCm39)	L122R	probably damaging	Het
Tbc1d2	G	A	4: 46,649,965 (GRCm39)	P24S	probably benign	Het
Tex36	T	C	7: 133,196,866 (GRCm39)		probably null	Het
Tmem145	T	C	7: 25,006,590 (GRCm39)		probably null	Het
Ttn	T	G	2: 76,550,698 (GRCm39)	D31528A	probably damaging	Het
Vars2	A	T	17: 35,977,578 (GRCm39)	V118E	probably benign	Het
Vmn1r195	T	C	13: 22,463,022 (GRCm39)	V164A	probably benign	Het
Vmn2r69	T	C	7: 85,060,467 (GRCm39)	I372M	probably benign	Het
Vmn2r93	A	T	17: 18,546,672 (GRCm39)	H848L	probably benign	Het
Wnt9b	T	C	11: 103,621,643 (GRCm39)	Q338R	probably benign	Het
Zfp128	A	G	7: 12,624,289 (GRCm39)	D219G	probably benign	Het
Zfp541	A	T	7: 15,826,793 (GRCm39)	R1181W	probably damaging	Het
Zfp867	C	T	11: 59,354,760 (GRCm39)	G190S	probably benign	Het
Zfp971	T	A	2: 177,674,967 (GRCm39)	C189S	probably damaging	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
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
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'- CACCATCGGACACATGATGG -3'
(R):5'- CCTAGGAAATGCACAGAGCTCC -3'

Sequencing Primer
(F):5'- CCATCGGACACATGATGGAGATG -3'
(R):5'- AGAGCTCCTTTAGAATGTCCCTAGG -3'

Posted On

2019-10-07