Incidental Mutation 'R6144:Creb3l1'
ID488721
Institutional Source Beutler Lab
Gene Symbol Creb3l1
Ensembl Gene ENSMUSG00000027230
Gene NamecAMP responsive element binding protein 3-like 1
SynonymsBBF-2 (drosophila) homolog, Oasis
MMRRC Submission 044291-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6144 (G1)
Quality Score225.009
Status Not validated
Chromosome2
Chromosomal Location91982328-92024502 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 91992005 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 212 (H212R)
Ref Sequence ENSEMBL: ENSMUSP00000028663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028663]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028663
AA Change: H212R

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000028663
Gene: ENSMUSG00000027230
AA Change: H212R

DomainStartEndE-ValueType
low complexity region 49 61 N/A INTRINSIC
low complexity region 142 154 N/A INTRINSIC
low complexity region 205 233 N/A INTRINSIC
BRLZ 288 352 8.06e-19 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 96% (65/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is normally found in the membrane of the endoplasmic reticulum (ER). However, upon stress to the ER, the encoded protein is cleaved and the released cytoplasmic transcription factor domain translocates to the nucleus. There it activates the transcription of target genes by binding to box-B elements. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal growth retardation, fragile skeleton, and decreased bone density, cortical and trabecular thickness, and osteoblast maturation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3300002I08Rik A T 2: 150,344,644 D40E possibly damaging Het
4921517D22Rik C T 13: 59,689,533 R246H probably damaging Het
Agbl1 A G 7: 76,420,084 T203A probably benign Het
Alms1 T A 6: 85,623,074 D2096E probably damaging Het
Ankrd53 T C 6: 83,762,657 probably benign Het
Arap3 C A 18: 37,985,433 G814C probably damaging Het
Armc9 T G 1: 86,244,579 I5S probably benign Het
Catsperg1 T C 7: 29,210,695 T74A probably damaging Het
Ccpg1os C A 9: 72,979,988 C79F probably damaging Het
Cdca7l T A 12: 117,873,711 probably null Het
Cfhr2 T A 1: 139,805,415 probably benign Het
Chpt1 A G 10: 88,453,093 probably benign Het
Cntrl A C 2: 35,165,733 D1213A possibly damaging Het
Col7a1 C T 9: 108,974,080 R2149C unknown Het
Cpa4 T C 6: 30,585,083 S289P probably damaging Het
Cpsf3 G A 12: 21,306,886 probably null Het
Cybb C G X: 9,450,750 D246H probably benign Het
Cyp2c29 A G 19: 39,321,609 D254G possibly damaging Het
Ddx58 T C 4: 40,229,551 I78V probably benign Het
Dennd1b A G 1: 139,081,255 H232R probably damaging Het
Dhx29 T C 13: 112,964,571 L1216P probably damaging Het
Dsg1b T C 18: 20,396,419 I307T possibly damaging Het
Ep300 A G 15: 81,601,234 S141G unknown Het
Evl A C 12: 108,653,031 K101T probably damaging Het
Exph5 G A 9: 53,373,028 G470R probably benign Het
Fam126a T C 5: 23,966,369 S352G possibly damaging Het
Flg A T 3: 93,283,208 probably benign Het
Gm45704 T A 8: 72,784,292 Het
Grm1 T C 10: 11,079,896 M215V probably benign Het
Hadha T C 5: 30,140,996 D210G probably benign Het
Hmcn1 T C 1: 150,722,424 Y1709C probably damaging Het
Hrc A T 7: 45,336,733 H436L possibly damaging Het
Ido1 T A 8: 24,585,290 T259S possibly damaging Het
Itgb7 C A 15: 102,223,482 R222L probably benign Het
Khnyn T C 14: 55,887,839 V485A probably damaging Het
Kifc5b T C 17: 26,921,852 V100A probably benign Het
Lsm10 T C 4: 126,098,001 M50T probably damaging Het
Map3k6 T G 4: 133,245,675 W382G probably damaging Het
Mink1 T A 11: 70,610,652 F922I possibly damaging Het
Mpp5 T C 12: 78,824,789 V381A possibly damaging Het
Mrap2 T C 9: 87,175,818 V53A probably damaging Het
Mrps7 C A 11: 115,604,174 A5E probably benign Het
Muc4 A G 16: 32,766,924 N2713S possibly damaging Het
Nckipsd T C 9: 108,812,386 S249P probably damaging Het
Neil3 T C 8: 53,599,412 T384A probably benign Het
Noc3l A T 19: 38,798,955 I504K probably damaging Het
Nudt13 A G 14: 20,307,771 N107S probably benign Het
Olfr134 T A 17: 38,175,225 L47H probably damaging Het
Olfr368 T A 2: 37,332,113 M122K probably damaging Het
Olfr747 C A 14: 50,680,935 R233L probably benign Het
Otub1 G T 19: 7,199,153 Y205* probably null Het
Plpp7 T A 2: 32,096,088 S93T probably damaging Het
Pxk T G 14: 8,138,011 Y188D probably damaging Het
Rnd2 C T 11: 101,468,999 L57F probably damaging Het
Rpap1 A T 2: 119,772,647 C602* probably null Het
Sbds T C 5: 130,246,344 K248E probably benign Het
Serpina10 A T 12: 103,628,833 N42K probably benign Het
Slc7a8 A G 14: 54,729,340 L368P probably damaging Het
Srrm1 T C 4: 135,337,873 probably benign Het
Sun2 C T 15: 79,730,332 V288I probably benign Het
Tas2r107 C A 6: 131,660,003 A28S possibly damaging Het
Tbc1d9b T C 11: 50,146,328 I268T probably benign Het
Tjp2 A G 19: 24,120,073 F495L probably damaging Het
Top2b T C 14: 16,423,740 L1434P possibly damaging Het
Top3b A G 16: 16,879,141 probably null Het
Trdv2-2 A T 14: 53,961,304 E17V possibly damaging Het
Ttc6 T A 12: 57,673,100 L819Q possibly damaging Het
Txlnb A G 10: 17,843,166 T582A probably benign Het
Zfp788 T C 7: 41,649,769 S558P probably damaging Het
Other mutations in Creb3l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01765:Creb3l1 APN 2 92024101 missense possibly damaging 0.94
IGL01963:Creb3l1 APN 2 91993333 missense probably benign 0.00
IGL02618:Creb3l1 APN 2 91983198 missense probably benign 0.00
IGL03088:Creb3l1 APN 2 91995394 missense probably benign 0.00
R0609:Creb3l1 UTSW 2 91987053 missense possibly damaging 0.93
R1891:Creb3l1 UTSW 2 91987040 missense probably damaging 1.00
R2298:Creb3l1 UTSW 2 91991976 missense probably damaging 1.00
R2912:Creb3l1 UTSW 2 91987053 missense possibly damaging 0.93
R3084:Creb3l1 UTSW 2 91995444 splice site probably null
R3085:Creb3l1 UTSW 2 91995444 splice site probably null
R3151:Creb3l1 UTSW 2 92002033 missense probably damaging 0.96
R3945:Creb3l1 UTSW 2 91991211 missense probably damaging 1.00
R4175:Creb3l1 UTSW 2 91983175 missense probably benign 0.01
R4302:Creb3l1 UTSW 2 91993319 missense probably damaging 1.00
R4999:Creb3l1 UTSW 2 91983226 missense probably benign
R5035:Creb3l1 UTSW 2 91987086 missense probably benign 0.34
R5684:Creb3l1 UTSW 2 91990731 missense probably damaging 1.00
R5750:Creb3l1 UTSW 2 91986263 missense possibly damaging 0.90
R5860:Creb3l1 UTSW 2 92024054 missense probably benign 0.00
R6171:Creb3l1 UTSW 2 91991269 missense probably damaging 0.99
R6239:Creb3l1 UTSW 2 91995403 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGGGAACTAGGTGAGCCTAC -3'
(R):5'- CAGCAATCATCTTCATGGGTGC -3'

Sequencing Primer
(F):5'- GGAACTAGGTGAGCCTACTTATCAC -3'
(R):5'- CAATCATCTTCATGGGTGCCAAGTG -3'
Posted On2017-10-10