Mutagenetix > Incidental Mutation

Incidental Mutation 'R7401:Crem'

574206

Institutional Source

Beutler Lab

Gene Symbol

Crem

Ensembl Gene

ENSMUSG00000063889

Gene Name

cAMP responsive element modulator

Synonyms

ICER

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.410) question?

Stock #

R7401 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3266048-3337748 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3295329 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 80 (S80P)

Ref Sequence

ENSEMBL: ENSMUSP00000121118 (fasta)

Gene Model

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

AlphaFold

P27699

Predicted Effect

probably damaging
Transcript: ENSMUST00000025069
AA Change: S133P

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

SMART Domains

Protein: ENSMUSP00000025069
Gene: ENSMUSG00000063889
AA Change: S133P

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 damaging
Transcript: ENSMUST00000082141
AA Change: S84P

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

SMART Domains

Protein: ENSMUSP00000080780
Gene: ENSMUSG00000063889
AA Change: S84P

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: S80P

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

SMART Domains

Protein: ENSMUSP00000121118
Gene: ENSMUSG00000063889
AA Change: S80P

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: S68P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120557
Gene: ENSMUSG00000063889
AA Change: S68P

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: S80P

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

SMART Domains

Protein: ENSMUSP00000114780
Gene: ENSMUSG00000063889
AA Change: S80P

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

possibly damaging
Transcript: ENSMUST00000127601
AA Change: S118P

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118649
Gene: ENSMUSG00000063889
AA Change: S118P

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 damaging
Transcript: ENSMUST00000129435
AA Change: S31P

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

SMART Domains

Protein: ENSMUSP00000117438
Gene: ENSMUSG00000063889
AA Change: S31P

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: ENSMUST00000130455
AA Change: S123P

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

SMART Domains

Protein: ENSMUSP00000121541
Gene: ENSMUSG00000063889
AA Change: S123P

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 damaging
Transcript: ENSMUST00000130599
AA Change: S68P

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115471
Gene: ENSMUSG00000063889
AA Change: S68P

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: ENSMUST00000131899
AA Change: S123P

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

SMART Domains

Protein: ENSMUSP00000119353
Gene: ENSMUSG00000063889
AA Change: S123P

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: ENSMUST00000134027

Predicted Effect

probably damaging
Transcript: ENSMUST00000136961
AA Change: S56P

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

SMART Domains

Protein: ENSMUSP00000115363
Gene: ENSMUSG00000063889
AA Change: S56P

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: ENSMUST00000137568
AA Change: S74P

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

SMART Domains

Protein: ENSMUSP00000115336
Gene: ENSMUSG00000063889
AA Change: S74P

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: ENSMUST00000142690
AA Change: S117P

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

SMART Domains

Protein: ENSMUSP00000122282
Gene: ENSMUSG00000063889
AA Change: S117P

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: ENSMUST00000144496
AA Change: S56P

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

SMART Domains

Protein: ENSMUSP00000120349
Gene: ENSMUSG00000063889
AA Change: S56P

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: S123P

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

SMART Domains

Protein: ENSMUSP00000119638
Gene: ENSMUSG00000063889
AA Change: S123P

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 benign
Transcript: ENSMUST00000148305

Predicted Effect

probably damaging
Transcript: ENSMUST00000149803
AA Change: S68P

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

SMART Domains

Protein: ENSMUSP00000121210
Gene: ENSMUSG00000063889
AA Change: S68P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000150235
AA Change: S133P

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

SMART Domains

Protein: ENSMUSP00000121233
Gene: ENSMUSG00000063889
AA Change: S133P

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: S84P

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

SMART Domains

Protein: ENSMUSP00000118267
Gene: ENSMUSG00000063889
AA Change: S84P

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: S56P

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

SMART Domains

Protein: ENSMUSP00000122241
Gene: ENSMUSG00000063889
AA Change: S56P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000152900
AA Change: S74P

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

SMART Domains

Protein: ENSMUSP00000123515
Gene: ENSMUSG00000063889
AA Change: S74P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000154135
AA Change: S84P

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

SMART Domains

Protein: ENSMUSP00000122051
Gene: ENSMUSG00000063889
AA Change: S84P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000154470
AA Change: S133P

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

SMART Domains

Protein: ENSMUSP00000118128
Gene: ENSMUSG00000063889
AA Change: S133P

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: ENSMUST00000154715
AA Change: S105P

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

SMART Domains

Protein: ENSMUSP00000122179
Gene: ENSMUSG00000063889
AA Change: S105P

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: ENSMUST00000156234
AA Change: S117P

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

SMART Domains

Protein: ENSMUSP00000121388
Gene: ENSMUSG00000063889
AA Change: S117P

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: S133P

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

SMART Domains

Protein: ENSMUSP00000127353
Gene: ENSMUSG00000063889
AA Change: S133P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	T	16: 17,118,404	L152Q	probably benign	Het
Abcg3	A	T	5: 104,966,774	N292K	probably damaging	Het
Adamts3	T	A	5: 89,707,450		probably null	Het
Adgrg7	T	C	16: 56,742,418	N519D	probably benign	Het
Adsl	A	G	15: 80,962,782	H263R	probably damaging	Het
Ak9	A	T	10: 41,423,004	D1567V	unknown	Het
Bscl2	T	C	19: 8,846,550	F280L	possibly damaging	Het
Cacna1b	T	A	2: 24,679,294	T873S	probably benign	Het
Cacna1c	T	C	6: 119,052,708		probably null	Het
Cast	G	T	13: 74,808,458	A18E	unknown	Het
Ccdc114	A	C	7: 45,942,765	Q323P	probably damaging	Het
Cd207	A	C	6: 83,677,848		probably benign	Het
Cd79b	A	G	11: 106,312,852	S130P	probably benign	Het
Cfap52	A	T	11: 67,949,633	N157K	probably benign	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Chaf1b	G	T	16: 93,884,380		probably benign	Het
Cntn1	A	G	15: 92,317,989	I968V	probably benign	Het
Cntn5	C	T	9: 9,833,461	V362I	probably benign	Het
Csnk1g3	C	T	18: 53,930,318	T267I	probably damaging	Het
Cyth1	A	T	11: 118,182,251	N274K	possibly damaging	Het
Dicer1	C	T	12: 104,712,278	G594S	probably benign	Het
Enpp1	C	T	10: 24,645,282	C849Y	probably damaging	Het
Fam193a	A	G	5: 34,465,635	E1189G	possibly damaging	Het
Fermt1	C	A	2: 132,917,559	V426L	probably benign	Het
Fes	A	G	7: 80,378,776		probably null	Het
Gm16486	T	C	8: 70,717,272	I1337T	probably benign	Het
Gmeb1	C	A	4: 132,225,774	L560F	probably damaging	Het
Hace1	T	C	10: 45,670,626	L452P	probably damaging	Het
Hecw2	T	A	1: 53,904,343	H975L	probably damaging	Het
Idh2	GGTCCCAG	GG	7: 80,098,329		probably benign	Het
Il1r2	T	A	1: 40,123,210	C338S	probably damaging	Het
Kcnb1	T	C	2: 167,188,284	S114G	probably damaging	Het
Lce1c	A	T	3: 92,680,316	T17S	unknown	Het
Lhfpl4	C	A	6: 113,176,666	L141F	possibly damaging	Het
Ms4a14	T	C	19: 11,302,230	E988G	possibly damaging	Het
Naip5	T	C	13: 100,219,696	Q1137R	probably benign	Het
Naip5	G	T	13: 100,219,697	Q1137K	not run	Het
Neurod1	T	A	2: 79,454,946	D31V	probably benign	Het
Neurod4	A	G	10: 130,271,058	C116R	probably damaging	Het
Nisch	A	G	14: 31,206,580	V28A	probably benign	Het
Olfr1174-ps	T	G	2: 88,311,428	M123L	probably benign	Het
Olfr1245	A	G	2: 89,575,105	V207A	probably benign	Het
Pabpc4l	A	T	3: 46,446,252	I319N	probably damaging	Het
Pabpc4l	T	A	3: 46,446,589	R207W	probably damaging	Het
Pcm1	G	A	8: 41,309,531	D1371N	probably damaging	Het
Peg10	G	GGTC	6: 4,756,452		probably benign	Het
Plxnc1	C	T	10: 94,871,005	A557T	probably benign	Het
Prkdc	T	A	16: 15,648,738	V58D	probably damaging	Het
Prpf40a	A	G	2: 53,156,947	V259A	probably benign	Het
Psmd3	A	T	11: 98,685,640	T123S	probably benign	Het
Ptgr2	G	T	12: 84,292,329		probably benign	Het
Ptprr	A	G	10: 116,048,236	H66R	probably benign	Het
Rftn2	A	G	1: 55,194,242		probably null	Het
Rsph14	T	A	10: 75,029,796	E70V	possibly damaging	Het
Slc24a5	G	A	2: 125,088,191	V471I	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spag9	A	T	11: 94,097,689	T862S	probably benign	Het
Ssbp2	T	A	13: 91,690,883	D291E	probably benign	Het
Supt5	T	C	7: 28,323,772	K329E	probably damaging	Het
Syne2	G	T	12: 75,967,381	K3115N	probably damaging	Het
Tars	A	T	15: 11,392,009	L239*	probably null	Het
Tbxa2r	T	C	10: 81,332,791	Y105H	probably benign	Het
Tesk1	T	A	4: 43,445,743	D265E	probably damaging	Het
Tril	T	C	6: 53,818,281	D652G	possibly damaging	Het
Tsga10	T	C	1: 37,834,187	R204G	probably null	Het
Twnk	A	G	19: 45,011,780	D645G	probably benign	Het
Umodl1	A	T	17: 30,998,148	D1118V	probably damaging	Het
Unc119	T	C	11: 78,347,245	I83T	probably benign	Het
Unc80	T	C	1: 66,646,415	W2233R	possibly damaging	Het
Vmn1r45	T	A	6: 89,933,434	T185S	possibly damaging	Het
Vmn2r111	G	T	17: 22,571,086	T313K	possibly damaging	Het
Wdr4	A	G	17: 31,509,832	L123S	probably damaging	Het
Zfpm2	A	G	15: 41,102,990	E957G	possibly damaging	Het

Other mutations in Crem

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01085:Crem	APN	18	3299236	missense	probably damaging	1.00
IGL01532:Crem	APN	18	3276732	missense	probably benign	0.02
IGL02500:Crem	APN	18	3273477	missense	probably damaging	1.00
IGL03280:Crem	APN	18	3273415	splice site	probably benign
menthe	UTSW	18	3268070	missense	probably damaging	1.00
R0379:Crem	UTSW	18	3299226	missense	probably damaging	1.00
R0987:Crem	UTSW	18	3288060	missense	probably damaging	0.98
R1829:Crem	UTSW	18	3295037	splice site	probably null
R1932:Crem	UTSW	18	3299284	missense	probably benign	0.27
R2086:Crem	UTSW	18	3288098	intron	probably benign
R2093:Crem	UTSW	18	3299256	missense	probably damaging	1.00
R4152:Crem	UTSW	18	3288055	missense	probably damaging	0.99
R4568:Crem	UTSW	18	3299175	missense	probably damaging	0.98
R4758:Crem	UTSW	18	3327527	missense	probably damaging	1.00
R6032:Crem	UTSW	18	3267673	missense	probably damaging	1.00
R6032:Crem	UTSW	18	3267673	missense	probably damaging	1.00
R6445:Crem	UTSW	18	3309671	missense	probably benign
R6525:Crem	UTSW	18	3268070	missense	probably damaging	1.00
R6651:Crem	UTSW	18	3325428	missense	probably benign	0.18
R7035:Crem	UTSW	18	3327503	missense	probably damaging	1.00
R7137:Crem	UTSW	18	3273459	missense	possibly damaging	0.89
R7463:Crem	UTSW	18	3295094	missense	probably benign	0.06
R7516:Crem	UTSW	18	3299141	splice site	probably null
R8095:Crem	UTSW	18	3295106	missense	probably benign	0.00
R8146:Crem	UTSW	18	3288007	missense	possibly damaging	0.68
R8266:Crem	UTSW	18	3309535	intron	probably benign
R8308:Crem	UTSW	18	3295397	missense	possibly damaging	0.55
R8825:Crem	UTSW	18	3268061	missense	probably damaging	0.99
R8899:Crem	UTSW	18	3295370	missense	probably damaging	0.99
R8976:Crem	UTSW	18	3268088	missense	possibly damaging	0.88
R9681:Crem	UTSW	18	3268067	missense	probably damaging	1.00
Z1176:Crem	UTSW	18	3267730	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAATGTTAGGTGGTGTCCCTTC -3'
(R):5'- GCACTGAATCCTATCCACAGTC -3'

Sequencing Primer
(F):5'- CAGGCACATCAGAGGAAAGTTCATTC -3'
(R):5'- TCCTATCCACAGTCAATCTTAATCAC -3'

Posted On

2019-09-13