Incidental Mutation 'R6144:Creb3l1'
ID 488721
Institutional Source Beutler Lab
Gene Symbol Creb3l1
Ensembl Gene ENSMUSG00000027230
Gene Name cAMP responsive element binding protein 3-like 1
Synonyms BBF-2 (drosophila) homolog, Oasis
MMRRC Submission 044291-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6144 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 91812673-91854515 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91822350 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 212 (H212R)
Ref Sequence ENSEMBL: ENSMUSP00000028663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028663]
AlphaFold no structure available at present
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: 150,186,564 (GRCm39) D40E possibly damaging Het
4921517D22Rik C T 13: 59,837,347 (GRCm39) R246H probably damaging Het
Agbl1 A G 7: 76,069,832 (GRCm39) T203A probably benign Het
Alms1 T A 6: 85,600,056 (GRCm39) D2096E probably damaging Het
Ankrd53 T C 6: 83,739,639 (GRCm39) probably benign Het
Arap3 C A 18: 38,118,486 (GRCm39) G814C probably damaging Het
Armc9 T G 1: 86,172,301 (GRCm39) I5S probably benign Het
Catsperg1 T C 7: 28,910,120 (GRCm39) T74A probably damaging Het
Cdca7l T A 12: 117,837,446 (GRCm39) probably null Het
Cfhr2 T A 1: 139,733,153 (GRCm39) probably benign Het
Chpt1 A G 10: 88,288,955 (GRCm39) probably benign Het
Cntrl A C 2: 35,055,745 (GRCm39) D1213A possibly damaging Het
Col7a1 C T 9: 108,803,148 (GRCm39) R2149C unknown Het
Cpa4 T C 6: 30,585,082 (GRCm39) S289P probably damaging Het
Cpsf3 G A 12: 21,356,887 (GRCm39) probably null Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Cyp2c29 A G 19: 39,310,053 (GRCm39) D254G possibly damaging Het
Dennd1b A G 1: 139,008,993 (GRCm39) H232R probably damaging Het
Dhx29 T C 13: 113,101,105 (GRCm39) L1216P probably damaging Het
Dsg1b T C 18: 20,529,476 (GRCm39) I307T possibly damaging Het
Ep300 A G 15: 81,485,435 (GRCm39) S141G unknown Het
Evl A C 12: 108,619,290 (GRCm39) K101T probably damaging Het
Exph5 G A 9: 53,284,328 (GRCm39) G470R probably benign Het
Flg A T 3: 93,190,515 (GRCm39) probably benign Het
Gm45704 T A 8: 73,510,920 (GRCm39) Het
Grm1 T C 10: 10,955,640 (GRCm39) M215V probably benign Het
Hadha T C 5: 30,345,994 (GRCm39) D210G probably benign Het
Hmcn1 T C 1: 150,598,175 (GRCm39) Y1709C probably damaging Het
Hrc A T 7: 44,986,157 (GRCm39) H436L possibly damaging Het
Hycc1 T C 5: 24,171,367 (GRCm39) S352G possibly damaging Het
Ido1 T A 8: 25,075,306 (GRCm39) T259S possibly damaging Het
Itgb7 C A 15: 102,131,917 (GRCm39) R222L probably benign Het
Khnyn T C 14: 56,125,296 (GRCm39) V485A probably damaging Het
Kifc5b T C 17: 27,140,826 (GRCm39) V100A probably benign Het
Lsm10 T C 4: 125,991,794 (GRCm39) M50T probably damaging Het
Map3k6 T G 4: 132,972,986 (GRCm39) W382G probably damaging Het
Mink1 T A 11: 70,501,478 (GRCm39) F922I possibly damaging Het
Mrap2 T C 9: 87,057,871 (GRCm39) V53A probably damaging Het
Mrps7 C A 11: 115,495,000 (GRCm39) A5E probably benign Het
Muc4 A G 16: 32,587,298 (GRCm39) N2713S possibly damaging Het
Nckipsd T C 9: 108,689,585 (GRCm39) S249P probably damaging Het
Neil3 T C 8: 54,052,447 (GRCm39) T384A probably benign Het
Noc3l A T 19: 38,787,399 (GRCm39) I504K probably damaging Het
Nudt13 A G 14: 20,357,839 (GRCm39) N107S probably benign Het
Or11h4b C A 14: 50,918,392 (GRCm39) R233L probably benign Het
Or2n1 T A 17: 38,486,116 (GRCm39) L47H probably damaging Het
Or5c1 T A 2: 37,222,125 (GRCm39) M122K probably damaging Het
Otub1 G T 19: 7,176,518 (GRCm39) Y205* probably null Het
Pals1 T C 12: 78,871,563 (GRCm39) V381A possibly damaging Het
Pierce2 C A 9: 72,887,270 (GRCm39) C79F probably damaging Het
Plpp7 T A 2: 31,986,100 (GRCm39) S93T probably damaging Het
Pxk T G 14: 8,138,011 (GRCm38) Y188D probably damaging Het
Rigi T C 4: 40,229,551 (GRCm39) I78V probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpap1 A T 2: 119,603,128 (GRCm39) C602* probably null Het
Sbds T C 5: 130,275,185 (GRCm39) K248E probably benign Het
Serpina10 A T 12: 103,595,092 (GRCm39) N42K probably benign Het
Slc7a8 A G 14: 54,966,797 (GRCm39) L368P probably damaging Het
Srrm1 T C 4: 135,065,184 (GRCm39) probably benign Het
Sun2 C T 15: 79,614,533 (GRCm39) V288I probably benign Het
Tas2r107 C A 6: 131,636,966 (GRCm39) A28S possibly damaging Het
Tbc1d9b T C 11: 50,037,155 (GRCm39) I268T probably benign Het
Tjp2 A G 19: 24,097,437 (GRCm39) F495L probably damaging Het
Top2b T C 14: 16,423,740 (GRCm38) L1434P possibly damaging Het
Top3b A G 16: 16,697,005 (GRCm39) probably null Het
Trdv2-2 A T 14: 54,198,761 (GRCm39) E17V possibly damaging Het
Ttc6 T A 12: 57,719,886 (GRCm39) L819Q possibly damaging Het
Txlnb A G 10: 17,718,914 (GRCm39) T582A probably benign Het
Zfp788 T C 7: 41,299,193 (GRCm39) S558P probably damaging Het
Other mutations in Creb3l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01765:Creb3l1 APN 2 91,854,446 (GRCm39) missense possibly damaging 0.94
IGL01963:Creb3l1 APN 2 91,823,678 (GRCm39) missense probably benign 0.00
IGL02618:Creb3l1 APN 2 91,813,543 (GRCm39) missense probably benign 0.00
IGL03088:Creb3l1 APN 2 91,825,739 (GRCm39) missense probably benign 0.00
carver UTSW 2 91,854,399 (GRCm39) missense probably benign 0.00
R0609:Creb3l1 UTSW 2 91,817,398 (GRCm39) missense possibly damaging 0.93
R1891:Creb3l1 UTSW 2 91,817,385 (GRCm39) missense probably damaging 1.00
R2298:Creb3l1 UTSW 2 91,822,321 (GRCm39) missense probably damaging 1.00
R2912:Creb3l1 UTSW 2 91,817,398 (GRCm39) missense possibly damaging 0.93
R3084:Creb3l1 UTSW 2 91,825,789 (GRCm39) splice site probably null
R3085:Creb3l1 UTSW 2 91,825,789 (GRCm39) splice site probably null
R3151:Creb3l1 UTSW 2 91,832,378 (GRCm39) missense probably damaging 0.96
R3945:Creb3l1 UTSW 2 91,821,556 (GRCm39) missense probably damaging 1.00
R4175:Creb3l1 UTSW 2 91,813,520 (GRCm39) missense probably benign 0.01
R4302:Creb3l1 UTSW 2 91,823,664 (GRCm39) missense probably damaging 1.00
R4999:Creb3l1 UTSW 2 91,813,571 (GRCm39) missense probably benign
R5035:Creb3l1 UTSW 2 91,817,431 (GRCm39) missense probably benign 0.34
R5684:Creb3l1 UTSW 2 91,821,076 (GRCm39) missense probably damaging 1.00
R5750:Creb3l1 UTSW 2 91,816,608 (GRCm39) missense possibly damaging 0.90
R5860:Creb3l1 UTSW 2 91,854,399 (GRCm39) missense probably benign 0.00
R6171:Creb3l1 UTSW 2 91,821,614 (GRCm39) missense probably damaging 0.99
R6239:Creb3l1 UTSW 2 91,825,748 (GRCm39) missense probably damaging 0.99
R8353:Creb3l1 UTSW 2 91,821,274 (GRCm39) nonsense probably null
R8453:Creb3l1 UTSW 2 91,821,274 (GRCm39) nonsense probably null
R9348:Creb3l1 UTSW 2 91,822,231 (GRCm39) critical splice donor site probably null
R9350:Creb3l1 UTSW 2 91,822,231 (GRCm39) critical splice donor site probably null
R9409:Creb3l1 UTSW 2 91,822,231 (GRCm39) critical splice donor site probably null
R9410:Creb3l1 UTSW 2 91,822,231 (GRCm39) critical splice donor site probably null
R9413:Creb3l1 UTSW 2 91,822,231 (GRCm39) critical splice donor site probably null
R9465:Creb3l1 UTSW 2 91,822,231 (GRCm39) critical splice donor site probably null
R9466:Creb3l1 UTSW 2 91,822,231 (GRCm39) critical splice donor site probably null
R9479:Creb3l1 UTSW 2 91,822,231 (GRCm39) critical splice donor site probably null
R9493:Creb3l1 UTSW 2 91,822,231 (GRCm39) critical splice donor site probably null
R9579:Creb3l1 UTSW 2 91,822,231 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AGGGAACTAGGTGAGCCTAC -3'
(R):5'- CAGCAATCATCTTCATGGGTGC -3'

Sequencing Primer
(F):5'- GGAACTAGGTGAGCCTACTTATCAC -3'
(R):5'- CAATCATCTTCATGGGTGCCAAGTG -3'
Posted On 2017-10-10