Mutagenetix > Incidental Mutation

Incidental Mutation 'R0379:Crem'

30904

Institutional Source

Beutler Lab

Gene Symbol

Crem

Ensembl Gene

ENSMUSG00000063889

Gene Name

cAMP responsive element modulator

Synonyms

ICER

MMRRC Submission

038585-MU

Accession Numbers

Essential gene?

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

Stock #

R0379 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3266048-3337748 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3299226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 82 (V82D)

Ref Sequence

ENSEMBL: ENSMUSP00000127353 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025069] [ENSMUST00000082141] [ENSMUST00000122958] [ENSMUST00000123672] [ENSMUST00000126578] [ENSMUST00000129435] [ENSMUST00000146265] [ENSMUST00000131899] [ENSMUST00000142690] [ENSMUST00000130455] [ENSMUST00000136961] [ENSMUST00000137568] [ENSMUST00000144496] [ENSMUST00000130599] [ENSMUST00000134027] [ENSMUST00000149803] [ENSMUST00000148305] [ENSMUST00000150235] [ENSMUST00000154715] [ENSMUST00000154470] [ENSMUST00000156234] [ENSMUST00000165086] [ENSMUST00000151311] [ENSMUST00000152108] [ENSMUST00000152900] [ENSMUST00000154135]

AlphaFold

P27699

Predicted Effect

probably damaging
Transcript: ENSMUST00000025069
AA Change: V82D

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

SMART Domains

Protein: ENSMUSP00000025069
Gene: ENSMUSG00000063889
AA Change: V82D

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: 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: V29D

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000121118
Gene: ENSMUSG00000063889
AA Change: V29D

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 benign
Transcript: ENSMUST00000123672

SMART Domains

Protein: ENSMUSP00000120557
Gene: ENSMUSG00000063889

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000126578
AA Change: V29D

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114780
Gene: ENSMUSG00000063889
AA Change: V29D

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

unknown
Transcript: ENSMUST00000127601
AA Change: V67D

SMART Domains

Protein: ENSMUSP00000118649
Gene: ENSMUSG00000063889
AA Change: V67D

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

probably benign
Transcript: ENSMUST00000129435

SMART Domains

Protein: ENSMUSP00000117438
Gene: ENSMUSG00000063889

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146265
AA Change: V72D

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119638
Gene: ENSMUSG00000063889
AA Change: V72D

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: ENSMUST00000131899
AA Change: V72D

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

SMART Domains

Protein: ENSMUSP00000119353
Gene: ENSMUSG00000063889
AA Change: V72D

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 damaging
Transcript: ENSMUST00000142690
AA Change: V66D

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

SMART Domains

Protein: ENSMUSP00000122282
Gene: ENSMUSG00000063889
AA Change: V66D

Domain	Start	End	E-Value	Type
low complexity region	61	72	N/A	INTRINSIC
Pfam:pKID	96	138	4.8e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000130455
AA Change: V72D

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121541
Gene: ENSMUSG00000063889
AA Change: V72D

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

noncoding transcript
Transcript: ENSMUST00000130047

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140912

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149266

Predicted Effect

probably benign
Transcript: ENSMUST00000136961

SMART Domains

Protein: ENSMUSP00000115363
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
Pfam:pKID	35	76	6.5e-21	PFAM
BRLZ	208	265	2.73e-7	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 benign
Transcript: ENSMUST00000144496

SMART Domains

Protein: ENSMUSP00000120349
Gene: ENSMUSG00000063889

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

Predicted Effect

probably benign
Transcript: ENSMUST00000130599

SMART Domains

Protein: ENSMUSP00000115471
Gene: ENSMUSG00000063889

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

Predicted Effect

probably benign
Transcript: ENSMUST00000134027

Predicted Effect

probably benign
Transcript: ENSMUST00000149803

SMART Domains

Protein: ENSMUSP00000121210
Gene: ENSMUSG00000063889

Domain	Start	End	E-Value	Type
Pfam:pKID	47	89	2.6e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148305

Predicted Effect

probably damaging
Transcript: ENSMUST00000150235
AA Change: V82D

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

SMART Domains

Protein: ENSMUSP00000121233
Gene: ENSMUSG00000063889
AA Change: V82D

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

possibly damaging
Transcript: ENSMUST00000154715
AA Change: V54D

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122179
Gene: ENSMUSG00000063889
AA Change: V54D

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 damaging
Transcript: ENSMUST00000154470
AA Change: V82D

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

SMART Domains

Protein: ENSMUSP00000118128
Gene: ENSMUSG00000063889
AA Change: V82D

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 damaging
Transcript: ENSMUST00000156234
AA Change: V66D

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

SMART Domains

Protein: ENSMUSP00000121388
Gene: ENSMUSG00000063889
AA Change: V66D

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 damaging
Transcript: ENSMUST00000165086
AA Change: V82D

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

SMART Domains

Protein: ENSMUSP00000127353
Gene: ENSMUSG00000063889
AA Change: V82D

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

noncoding transcript
Transcript: ENSMUST00000156929

Predicted Effect

probably benign
Transcript: ENSMUST00000151311

SMART Domains

Protein: ENSMUSP00000118267
Gene: ENSMUSG00000063889

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

Predicted Effect

probably benign
Transcript: ENSMUST00000152108

SMART Domains

Protein: ENSMUSP00000122241
Gene: ENSMUSG00000063889

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: 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

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

Meta Mutation Damage Score

0.2113

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 90.9%

Validation Efficiency

98% (79/81)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930512M02Rik	A	G	11: 11,539,365 (GRCm39)		probably benign	Het
Apba1	A	C	19: 23,912,194 (GRCm39)	N558T	probably damaging	Het
Arfgef2	T	A	2: 166,702,320 (GRCm39)		probably null	Het
Arsb	T	C	13: 94,077,135 (GRCm39)	S501P	probably benign	Het
Atp10b	A	G	11: 43,145,141 (GRCm39)	T1295A	probably benign	Het
Atp8b5	G	T	4: 43,361,898 (GRCm39)	R648L	probably damaging	Het
Bcl2a1b	T	C	9: 89,081,789 (GRCm39)	I126T	possibly damaging	Het
Brd9	T	C	13: 74,090,802 (GRCm39)		probably benign	Het
Cd93	T	C	2: 148,283,430 (GRCm39)		probably benign	Het
Chd5	A	G	4: 152,467,778 (GRCm39)	K1692R	probably benign	Het
Clcn4	T	C	7: 7,299,791 (GRCm39)	T13A	probably damaging	Het
Clec14a	A	G	12: 58,315,580 (GRCm39)	F14S	possibly damaging	Het
Clec4g	A	G	8: 3,768,440 (GRCm39)	V97A	probably benign	Het
Col24a1	G	A	3: 145,229,897 (GRCm39)	R1483K	possibly damaging	Het
Ctnna2	T	A	6: 77,618,423 (GRCm39)	T180S	probably benign	Het
Cybrd1	T	C	2: 70,960,099 (GRCm39)	I99T	probably benign	Het
Cyp4a32	G	A	4: 115,478,671 (GRCm39)	V468M	probably damaging	Het
Dlk1	A	G	12: 109,420,985 (GRCm39)		probably benign	Het
Dnaaf9	C	T	2: 130,627,466 (GRCm39)		probably benign	Het
Dnah7b	A	T	1: 46,179,336 (GRCm39)	Y1003F	probably benign	Het
Egfem1	A	C	3: 29,722,399 (GRCm39)	E376A	possibly damaging	Het
Etl4	T	A	2: 20,812,165 (GRCm39)	I1416K	probably damaging	Het
Fbxl4	A	G	4: 22,386,106 (GRCm39)	T238A	probably benign	Het
Fer1l6	A	G	15: 58,420,187 (GRCm39)	I33M	probably benign	Het
Fndc3a	A	G	14: 72,794,049 (GRCm39)	S830P	probably damaging	Het
Fras1	C	T	5: 96,903,368 (GRCm39)	R3082*	probably null	Het
Galnt13	T	C	2: 54,950,504 (GRCm39)	V395A	possibly damaging	Het
Gpd2	C	T	2: 57,235,275 (GRCm39)	T335I	probably damaging	Het
Gucy2d	C	A	7: 98,108,209 (GRCm39)		probably null	Het
Hydin	A	G	8: 111,235,759 (GRCm39)		probably benign	Het
Ints5	G	T	19: 8,874,497 (GRCm39)	V819L	possibly damaging	Het
Klhdc10	C	G	6: 30,450,669 (GRCm39)	Q292E	possibly damaging	Het
Lmbrd2	G	A	15: 9,149,566 (GRCm39)	A67T	probably benign	Het
Lrp1	T	G	10: 127,430,838 (GRCm39)	T404P	probably damaging	Het
Marchf7	T	C	2: 60,064,470 (GRCm39)	S249P	probably benign	Het
Mcm10	T	A	2: 5,013,434 (GRCm39)	K66M	probably benign	Het
Mtmr7	C	A	8: 41,004,642 (GRCm39)	D645Y	probably damaging	Het
Muc6	T	A	7: 141,216,868 (GRCm39)	I2602F	possibly damaging	Het
Myh13	G	A	11: 67,260,121 (GRCm39)		probably benign	Het
Myo18a	G	A	11: 77,741,632 (GRCm39)	V1776I	possibly damaging	Het
Ncapg2	T	C	12: 116,406,695 (GRCm39)	L957S	probably damaging	Het
Ncoa3	T	C	2: 165,896,422 (GRCm39)	S442P	probably damaging	Het
Or5t5	G	A	2: 86,616,079 (GRCm39)	E2K	probably benign	Het
Or6x1	G	A	9: 40,098,729 (GRCm39)	G106D	probably damaging	Het
Or7g32	T	A	9: 19,388,776 (GRCm39)	T257S	possibly damaging	Het
Pdcd6	G	T	13: 74,457,831 (GRCm39)	N113K	possibly damaging	Het
Pfkfb4	C	T	9: 108,856,810 (GRCm39)		probably benign	Het
Pfkm	A	G	15: 98,024,195 (GRCm39)	H401R	probably benign	Het
Phldb2	C	A	16: 45,601,814 (GRCm39)	D754Y	probably damaging	Het
Plekhb2	T	A	1: 34,902,195 (GRCm39)	M49K	probably damaging	Het
Polrmt	A	G	10: 79,573,445 (GRCm39)	S1057P	possibly damaging	Het
Prps1l1	A	G	12: 35,035,077 (GRCm39)	N64S	probably benign	Het
Prss3l	T	G	6: 41,422,190 (GRCm39)		probably benign	Het
Psg16	T	C	7: 16,864,583 (GRCm39)	S393P	probably benign	Het
Rundc1	C	T	11: 101,315,973 (GRCm39)	T15I	probably benign	Het
Scaf11	A	G	15: 96,329,697 (GRCm39)	L143S	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Serpinf1	T	G	11: 75,304,771 (GRCm39)	I197L	probably benign	Het
Siglec1	C	T	2: 130,916,445 (GRCm39)		probably benign	Het
Slc28a1	G	A	7: 80,787,925 (GRCm39)	V271I	probably benign	Het
Sntg1	T	C	1: 8,853,048 (GRCm39)	D34G	probably damaging	Het
Sptbn4	A	T	7: 27,059,161 (GRCm39)		probably benign	Het
Suclg1	T	C	6: 73,233,211 (GRCm39)	I51T	possibly damaging	Het
Syne1	C	T	10: 5,491,989 (GRCm39)	R9Q	probably damaging	Het
Trim47	T	A	11: 115,997,344 (GRCm39)	H470L	probably damaging	Het
Ttc41	T	A	10: 86,548,841 (GRCm39)	Y12N	possibly damaging	Het
Tubgcp2	T	C	7: 139,612,105 (GRCm39)	E69G	probably damaging	Het
Tubgcp3	G	A	8: 12,691,116 (GRCm39)	T474M	probably damaging	Het
Ubr5	A	T	15: 38,019,201 (GRCm39)	N777K	probably benign	Het
Ush2a	T	C	1: 188,184,016 (GRCm39)	L1440P	probably damaging	Het
Usp28	A	C	9: 48,935,367 (GRCm39)	D458A	possibly damaging	Het
Vcan	A	T	13: 89,851,665 (GRCm39)	D1098E	probably damaging	Het
Vmn1r73	C	T	7: 11,490,773 (GRCm39)	T197I	probably benign	Het
Vmn2r15	T	C	5: 109,434,344 (GRCm39)	S787G	probably damaging	Het
Vmn2r90	T	A	17: 17,948,401 (GRCm39)	I549N	probably damaging	Het
Vps33b	T	A	7: 79,933,162 (GRCm39)		probably null	Het
Zfp516	A	T	18: 83,005,795 (GRCm39)	K900*	probably null	Het
Zfp974	T	A	7: 27,610,357 (GRCm39)	N456I	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
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
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

PCR Primer
(F):5'- TCCTCCAAGTATTCAAGACGACACCTT -3'
(R):5'- GTTCCAGGACAGTGACTACCTCCTAA -3'

Sequencing Primer
(F):5'- ctgaggaggaggaaaaggtg -3'
(R):5'- GACAGTGACTACCTCCTAATGGTAAG -3'

Posted On

2013-04-24