Mutagenetix > Incidental Mutation

Incidental Mutation 'R6032:Crem'

480483

Institutional Source

Beutler Lab

Gene Symbol

Crem

Ensembl Gene

ENSMUSG00000063889

Gene Name

cAMP responsive element modulator

Synonyms

ICER

MMRRC Submission

044204-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.416) question?

Stock #

R6032 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3266048-3337748 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3267673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 190 (R190Q)

Ref Sequence

ENSEMBL: ENSMUSP00000122241 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025069] [ENSMUST00000049942] [ENSMUST00000082141] [ENSMUST00000122958] [ENSMUST00000123672] [ENSMUST00000124747] [ENSMUST00000126578] [ENSMUST00000129435] [ENSMUST00000130599] [ENSMUST00000136961] [ENSMUST00000140332] [ENSMUST00000144496] [ENSMUST00000146265] [ENSMUST00000147138] [ENSMUST00000134027] [ENSMUST00000139537] [ENSMUST00000131899] [ENSMUST00000130455] [ENSMUST00000137568] [ENSMUST00000150235] [ENSMUST00000151311] [ENSMUST00000152108] [ENSMUST00000151084] [ENSMUST00000156234] [ENSMUST00000154705] [ENSMUST00000154715] [ENSMUST00000154135] [ENSMUST00000154470] [ENSMUST00000165086] [ENSMUST00000148305] [ENSMUST00000152900]

AlphaFold

P27699

Predicted Effect

probably benign
Transcript: ENSMUST00000025069

SMART Domains

Protein: ENSMUSP00000025069
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
low complexity region	77	88	N/A	INTRINSIC
Pfam:pKID	112	153	3.1e-20	PFAM
BRLZ	285	343	3.8e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000049942

SMART Domains

Protein: ENSMUSP00000061925
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
BRLZ	59	117	3.8e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000082141

SMART Domains

Protein: ENSMUSP00000080780
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
Pfam:pKID	63	104	2.6e-20	PFAM
BRLZ	248	306	3.8e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000122958
AA Change: R277Q

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

SMART Domains

Protein: ENSMUSP00000121118
Gene: ENSMUSG00000063889
AA Change: R277Q

Domain	Start	End	E-Value	Type
low complexity region	24	35	N/A	INTRINSIC
Pfam:pKID	59	100	7.8e-21	PFAM
BRLZ	244	301	2.73e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000123672
AA Change: R190Q

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

SMART Domains

Protein: ENSMUSP00000120557
Gene: ENSMUSG00000063889
AA Change: R190Q

Domain	Start	End	E-Value	Type
Pfam:pKID	47	88	1.5e-20	PFAM
BRLZ	157	214	2.73e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124747

SMART Domains

Protein: ENSMUSP00000121352
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
BRLZ	42	100	3.8e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126578

SMART Domains

Protein: ENSMUSP00000114780
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
low complexity region	24	35	N/A	INTRINSIC
Pfam:pKID	59	100	7.8e-21	PFAM
BRLZ	244	302	3.8e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000129435
AA Change: R216Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117438
Gene: ENSMUSG00000063889
AA Change: R216Q

Domain	Start	End	E-Value	Type
Pfam:pKID	10	51	5.6e-21	PFAM
BRLZ	183	240	2.73e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000130599
AA Change: R202Q

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

SMART Domains

Protein: ENSMUSP00000115471
Gene: ENSMUSG00000063889
AA Change: R202Q

Domain	Start	End	E-Value	Type
Pfam:pKID	47	88	1.6e-20	PFAM
BRLZ	169	226	2.73e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000136961
AA Change: R241Q

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

SMART Domains

Protein: ENSMUSP00000115363
Gene: ENSMUSG00000063889
AA Change: R241Q

Domain	Start	End	E-Value	Type
Pfam:pKID	35	76	6.5e-21	PFAM
BRLZ	208	265	2.73e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000140332
AA Change: R81Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115423
Gene: ENSMUSG00000063889
AA Change: R81Q

Domain	Start	End	E-Value	Type
BRLZ	48	105	2.73e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000144496
AA Change: R253Q

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

SMART Domains

Protein: ENSMUSP00000120349
Gene: ENSMUSG00000063889
AA Change: R253Q

Domain	Start	End	E-Value	Type
Pfam:pKID	35	76	6.9e-21	PFAM
BRLZ	220	277	2.73e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000146265
AA Change: R245Q

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

SMART Domains

Protein: ENSMUSP00000119638
Gene: ENSMUSG00000063889
AA Change: R245Q

Domain	Start	End	E-Value	Type
low complexity region	67	78	N/A	INTRINSIC
Pfam:pKID	102	143	2.1e-20	PFAM
BRLZ	212	269	2.73e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000147138
AA Change: R93Q

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

SMART Domains

Protein: ENSMUSP00000114280
Gene: ENSMUSG00000063889
AA Change: R93Q

Domain	Start	End	E-Value	Type
BRLZ	60	117	2.73e-7	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000127601
AA Change: R303Q

SMART Domains

Protein: ENSMUSP00000118649
Gene: ENSMUSG00000063889
AA Change: R303Q

Domain	Start	End	E-Value	Type
low complexity region	63	74	N/A	INTRINSIC
Pfam:pKID	98	139	3.1e-21	PFAM
BRLZ	271	328	2.73e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140912

Predicted Effect

probably benign
Transcript: ENSMUST00000134027

Predicted Effect

probably benign
Transcript: ENSMUST00000139537

SMART Domains

Protein: ENSMUSP00000122123
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
BRLZ	35	93	3.8e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131899

SMART Domains

Protein: ENSMUSP00000119353
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
low complexity region	67	78	N/A	INTRINSIC
Pfam:pKID	102	143	2.2e-20	PFAM
BRLZ	224	282	3.8e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130455

SMART Domains

Protein: ENSMUSP00000121541
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
low complexity region	67	78	N/A	INTRINSIC
Pfam:pKID	102	143	2.8e-20	PFAM
BRLZ	275	333	3.8e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137568

SMART Domains

Protein: ENSMUSP00000115336
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
Pfam:pKID	53	94	1.5e-20	PFAM
BRLZ	163	221	3.8e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000150235
AA Change: R330Q

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

SMART Domains

Protein: ENSMUSP00000121233
Gene: ENSMUSG00000063889
AA Change: R330Q

Domain	Start	End	E-Value	Type
low complexity region	77	88	N/A	INTRINSIC
Pfam:pKID	112	153	1.1e-20	PFAM
BRLZ	297	354	2.73e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000151311
AA Change: R269Q

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

SMART Domains

Protein: ENSMUSP00000118267
Gene: ENSMUSG00000063889
AA Change: R269Q

Domain	Start	End	E-Value	Type
Pfam:pKID	63	104	7.5e-21	PFAM
BRLZ	236	293	2.73e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000152108
AA Change: R190Q

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

SMART Domains

Protein: ENSMUSP00000122241
Gene: ENSMUSG00000063889
AA Change: R190Q

Domain	Start	End	E-Value	Type
Pfam:pKID	35	76	4.7e-21	PFAM
BRLZ	157	214	2.73e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000151084

SMART Domains

Protein: ENSMUSP00000118578
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
BRLZ	48	106	3.8e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156234

SMART Domains

Protein: ENSMUSP00000121388
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
low complexity region	61	72	N/A	INTRINSIC
Pfam:pKID	96	137	9.1e-21	PFAM
BRLZ	281	339	3.8e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154705

SMART Domains

Protein: ENSMUSP00000119194
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
BRLZ	60	118	3.8e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154715

SMART Domains

Protein: ENSMUSP00000122179
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
low complexity region	49	60	N/A	INTRINSIC
Pfam:pKID	84	125	8.7e-21	PFAM
BRLZ	269	327	3.8e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154135

SMART Domains

Protein: ENSMUSP00000122051
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
Pfam:pKID	63	104	1.9e-20	PFAM
BRLZ	185	243	3.8e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154470

SMART Domains

Protein: ENSMUSP00000118128
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
low complexity region	77	88	N/A	INTRINSIC
Pfam:pKID	112	153	2.3e-20	PFAM
BRLZ	222	280	3.8e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165086

SMART Domains

Protein: ENSMUSP00000127353
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
low complexity region	77	88	N/A	INTRINSIC
Pfam:pKID	112	153	2.4e-20	PFAM
BRLZ	234	292	3.8e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000148305

Predicted Effect

probably benign
Transcript: ENSMUST00000152900

SMART Domains

Protein: ENSMUSP00000123515
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
Pfam:pKID	53	94	2.4e-20	PFAM
BRLZ	238	296	3.8e-6	SMART

Meta Mutation Damage Score

0.4214

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 96.0%
20x: 85.5%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a basic-leucine zipper domain-containing protein that localizes to gene promoters, where it binds to the cyclic AMP response element (CRE). Different protein isoforms encoded by this gene may function as either activators or repressors of transcription. Activity of this gene is important in multiple developmental processes, including spermatogenesis. Mutation of this gene causes male infertility. Alternative splicing and promoter usage result in multiple transcript variants for this gene. [provided by RefSeq, Oct 2012]
PHENOTYPE: Homozygotes for targeted mutations exhibit reduced regenerative capacity after partial hepatectomy and reduced cardiac function. Males are sterile due to a block in spermiogenesis associated with a lack of postmeiotic gene expression. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
A2ml1	T	A	6: 128,526,799 (GRCm39)	K1071*	probably null	Het
Abca13	G	T	11: 9,247,752 (GRCm39)	V2500F	possibly damaging	Het
Adamdec1	T	C	14: 68,816,633 (GRCm39)	E85G	probably damaging	Het
Aldh8a1	T	C	10: 21,264,970 (GRCm39)	V199A	probably benign	Het
Aoc2	G	A	11: 101,216,627 (GRCm39)	V237M	probably damaging	Het
Aplp2	C	T	9: 31,062,240 (GRCm39)	R672H	probably damaging	Het
Apob	A	G	12: 8,045,513 (GRCm39)	N886S	probably benign	Het
Ascc3	C	T	10: 50,718,279 (GRCm39)	R1991*	probably null	Het
Atp6v1a	T	C	16: 43,927,303 (GRCm39)	Y328C	probably damaging	Het
Bag4	T	C	8: 26,267,521 (GRCm39)	Y103C	probably damaging	Het
Crybg1	A	G	10: 43,832,756 (GRCm39)	S2000P	probably damaging	Het
Cubn	T	A	2: 13,329,995 (GRCm39)	T2629S	probably benign	Het
Cyp3a44	G	T	5: 145,714,756 (GRCm39)	S465Y	probably damaging	Het
Daam2	A	C	17: 49,793,525 (GRCm39)	F331V	probably damaging	Het
Dnajc3	T	C	14: 119,205,443 (GRCm39)	S146P	possibly damaging	Het
Dscam	A	G	16: 96,451,191 (GRCm39)		probably null	Het
Fam184b	G	A	5: 45,740,238 (GRCm39)	S316L	probably benign	Het
Fat2	G	C	11: 55,144,760 (GRCm39)	T4038S	probably damaging	Het
Fbxl19	C	T	7: 127,360,437 (GRCm39)	R439C	probably damaging	Het
Gm3454	T	A	15: 75,183,448 (GRCm39)		noncoding transcript	Het
Gpatch3	A	G	4: 133,305,617 (GRCm39)	E284G	probably benign	Het
Grm1	A	T	10: 10,595,549 (GRCm39)	I693N	probably damaging	Het
Gsdme	T	A	6: 50,222,934 (GRCm39)	Q127L	probably damaging	Het
Ifnlr1	A	G	4: 135,432,937 (GRCm39)	K458E	probably benign	Het
Kcns2	T	C	15: 34,839,080 (GRCm39)	F148L	probably benign	Het
Lama1	A	G	17: 68,057,638 (GRCm39)	T571A	probably benign	Het
Loxhd1	G	A	18: 77,469,254 (GRCm39)	V108M	probably damaging	Het
Mef2c	A	T	13: 83,810,478 (GRCm39)	T375S	probably benign	Het
Ncor1	A	T	11: 62,264,147 (GRCm39)	D144E	possibly damaging	Het
Nos3	A	T	5: 24,584,809 (GRCm39)	T738S	probably benign	Het
Nrxn2	A	T	19: 6,567,162 (GRCm39)	T1353S	probably damaging	Het
Or2b7	G	T	13: 21,740,077 (GRCm39)	S38R	probably benign	Het
Or4f4b	T	C	2: 111,314,195 (GRCm39)	L140P	probably damaging	Het
Or8g17	A	G	9: 38,930,261 (GRCm39)	I192T	probably benign	Het
Pfpl	A	G	19: 12,406,747 (GRCm39)	T333A	probably damaging	Het
Postn	A	T	3: 54,284,137 (GRCm39)	I565F	possibly damaging	Het
Ppef2	A	G	5: 92,378,383 (GRCm39)	V604A	probably benign	Het
Pramel13	A	C	4: 144,119,598 (GRCm39)	I323S	possibly damaging	Het
Rel	A	G	11: 23,692,684 (GRCm39)	S450P	probably benign	Het
Rpap2	A	C	5: 107,745,661 (GRCm39)	D3A	probably damaging	Het
Shisa9	T	C	16: 11,802,772 (GRCm39)	F110L	possibly damaging	Het
Slc25a10	A	T	11: 120,385,784 (GRCm39)		probably null	Het
Slx4	A	T	16: 3,798,021 (GRCm39)	F1454L	probably damaging	Het
Smc1b	A	T	15: 84,950,430 (GRCm39)	V1198D	possibly damaging	Het
Supt5	T	C	7: 28,015,600 (GRCm39)	Y879C	probably damaging	Het
Tbx15	T	C	3: 99,259,833 (GRCm39)	M568T	probably benign	Het
Tle4	T	C	19: 14,429,472 (GRCm39)	H698R	possibly damaging	Het
Trappc9	T	C	15: 72,797,379 (GRCm39)	N803D	probably benign	Het
Trim10	A	T	17: 37,182,606 (GRCm39)	R157S	possibly damaging	Het
Wsb1	T	C	11: 79,131,025 (GRCm39)		probably benign	Het
Zfp106	T	C	2: 120,365,874 (GRCm39)	S178G	probably benign	Het
Zftraf1	C	T	15: 76,543,058 (GRCm39)	R34Q	probably damaging	Het

Other mutations in Crem

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01085:Crem	APN	18	3,299,236 (GRCm39)	missense	probably damaging	1.00
IGL01532:Crem	APN	18	3,276,732 (GRCm39)	missense	probably benign	0.02
IGL02500:Crem	APN	18	3,273,477 (GRCm39)	missense	probably damaging	1.00
IGL03280:Crem	APN	18	3,273,415 (GRCm39)	splice site	probably benign
menthe	UTSW	18	3,268,070 (GRCm39)	missense	probably damaging	1.00
R0379:Crem	UTSW	18	3,299,226 (GRCm39)	missense	probably damaging	1.00
R0987:Crem	UTSW	18	3,288,060 (GRCm39)	missense	probably damaging	0.98
R1829:Crem	UTSW	18	3,295,037 (GRCm39)	splice site	probably null
R1932:Crem	UTSW	18	3,299,284 (GRCm39)	missense	probably benign	0.27
R2086:Crem	UTSW	18	3,288,098 (GRCm39)	intron	probably benign
R2093:Crem	UTSW	18	3,299,256 (GRCm39)	missense	probably damaging	1.00
R4152:Crem	UTSW	18	3,288,055 (GRCm39)	missense	probably damaging	0.99
R4568:Crem	UTSW	18	3,299,175 (GRCm39)	missense	probably damaging	0.98
R4758:Crem	UTSW	18	3,327,527 (GRCm39)	missense	probably damaging	1.00
R6032:Crem	UTSW	18	3,267,673 (GRCm39)	missense	probably damaging	1.00
R6445:Crem	UTSW	18	3,309,671 (GRCm39)	missense	probably benign
R6525:Crem	UTSW	18	3,268,070 (GRCm39)	missense	probably damaging	1.00
R6651:Crem	UTSW	18	3,325,428 (GRCm39)	missense	probably benign	0.18
R7035:Crem	UTSW	18	3,327,503 (GRCm39)	missense	probably damaging	1.00
R7137:Crem	UTSW	18	3,273,459 (GRCm39)	missense	possibly damaging	0.89
R7401:Crem	UTSW	18	3,295,329 (GRCm39)	missense	probably damaging	1.00
R7463:Crem	UTSW	18	3,295,094 (GRCm39)	missense	probably benign	0.06
R7516:Crem	UTSW	18	3,299,141 (GRCm39)	splice site	probably null
R8095:Crem	UTSW	18	3,295,106 (GRCm39)	missense	probably benign	0.00
R8146:Crem	UTSW	18	3,288,007 (GRCm39)	missense	possibly damaging	0.68
R8266:Crem	UTSW	18	3,309,535 (GRCm39)	intron	probably benign
R8308:Crem	UTSW	18	3,295,397 (GRCm39)	missense	possibly damaging	0.55
R8825:Crem	UTSW	18	3,268,061 (GRCm39)	missense	probably damaging	0.99
R8899:Crem	UTSW	18	3,295,370 (GRCm39)	missense	probably damaging	0.99
R8976:Crem	UTSW	18	3,268,088 (GRCm39)	missense	possibly damaging	0.88
R9681:Crem	UTSW	18	3,268,067 (GRCm39)	missense	probably damaging	1.00
Z1176:Crem	UTSW	18	3,267,730 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-06-26