Incidental Mutation 'R5540:Crebrf'
ID 435927
Institutional Source Beutler Lab
Gene Symbol Crebrf
Ensembl Gene ENSMUSG00000048249
Gene Name CREB3 regulatory factor
Synonyms A930001N09Rik
MMRRC Submission 043098-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.539) question?
Stock # R5540 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 26934624-26995609 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26961071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 56 (D56G)
Ref Sequence ENSEMBL: ENSMUSP00000114274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062519] [ENSMUST00000142539] [ENSMUST00000144221] [ENSMUST00000151681]
AlphaFold Q8CDG5
Predicted Effect probably benign
Transcript: ENSMUST00000062519
AA Change: D64G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000059102
Gene: ENSMUSG00000048249
AA Change: D64G

DomainStartEndE-ValueType
low complexity region 317 330 N/A INTRINSIC
low complexity region 356 407 N/A INTRINSIC
Blast:BRLZ 520 584 3e-35 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132972
Predicted Effect possibly damaging
Transcript: ENSMUST00000142539
AA Change: D56G

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114274
Gene: ENSMUSG00000048249
AA Change: D56G

DomainStartEndE-ValueType
low complexity region 309 322 N/A INTRINSIC
low complexity region 348 399 N/A INTRINSIC
Blast:BRLZ 512 576 3e-35 BLAST
low complexity region 617 630 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144221
AA Change: D64G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000120212
Gene: ENSMUSG00000048249
AA Change: D64G

DomainStartEndE-ValueType
low complexity region 317 330 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151681
SMART Domains Protein: ENSMUSP00000119186
Gene: ENSMUSG00000048249

DomainStartEndE-ValueType
Blast:BRLZ 100 137 2e-18 BLAST
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired social recognition, increased vertical and horizontal activity, abnormal maternal nurturing, decreased prolactin and corticosterone serum levels, and abnormal mammary gland growth during lactation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik A G 7: 44,012,371 (GRCm39) S15P probably damaging Het
Actl7a A T 4: 56,744,388 (GRCm39) H305L probably benign Het
Adam26b C A 8: 43,974,654 (GRCm39) C116F probably damaging Het
Adgrl2 A G 3: 148,543,198 (GRCm39) probably null Het
Akr1b10 A G 6: 34,371,047 (GRCm39) T238A probably damaging Het
Akr1c18 A G 13: 4,187,178 (GRCm39) V186A probably benign Het
Alpk3 G A 7: 80,745,184 (GRCm39) V1311M probably damaging Het
Aox1 A G 1: 58,143,569 (GRCm39) N1229S probably benign Het
Apobec3 T A 15: 79,782,120 (GRCm39) N43K probably benign Het
Arid1a A C 4: 133,407,765 (GRCm39) D2247E unknown Het
Asph A G 4: 9,635,906 (GRCm39) L77S probably damaging Het
Cd300ld T A 11: 114,878,231 (GRCm39) T94S probably damaging Het
Celf2 T C 2: 6,558,743 (GRCm39) T382A probably benign Het
Cfap54 C T 10: 92,808,470 (GRCm39) A1402T possibly damaging Het
Chrnb1 A T 11: 69,686,476 (GRCm39) V48E probably benign Het
Col6a5 T A 9: 105,739,975 (GRCm39) E2548V probably benign Het
Dctn5 A G 7: 121,734,275 (GRCm39) T40A probably benign Het
Dmxl2 A T 9: 54,301,141 (GRCm39) N2323K probably benign Het
Dync1h1 A G 12: 110,627,384 (GRCm39) Q4021R probably benign Het
Dyrk1a T G 16: 94,486,202 (GRCm39) probably null Het
Ephb3 T A 16: 21,039,610 (GRCm39) F454Y probably damaging Het
Fbxo38 A G 18: 62,647,864 (GRCm39) probably null Het
Flg T C 3: 93,184,923 (GRCm39) F15S probably damaging Het
Fndc3b G A 3: 27,555,651 (GRCm39) P301L probably damaging Het
Fpr-rs7 C T 17: 20,334,356 (GRCm39) G45R probably damaging Het
Garin3 A G 11: 46,295,715 (GRCm39) N29S probably damaging Het
Gfi1 T A 5: 107,867,991 (GRCm39) T360S probably damaging Het
Grik4 T C 9: 42,432,243 (GRCm39) H918R probably damaging Het
Hpx A G 7: 105,241,119 (GRCm39) S385P possibly damaging Het
Kdm5b A G 1: 134,558,979 (GRCm39) D1501G probably damaging Het
Kif20b A T 19: 34,915,860 (GRCm39) M546L probably benign Het
Map3k9 G T 12: 81,819,587 (GRCm39) N222K probably damaging Het
Me1 A G 9: 86,561,926 (GRCm39) L53P possibly damaging Het
Mis18bp1 T C 12: 65,195,520 (GRCm39) E748G possibly damaging Het
Morc3 T A 16: 93,644,268 (GRCm39) N186K probably benign Het
Mtor A G 4: 148,539,165 (GRCm39) T221A probably benign Het
Muc6 A G 7: 141,235,850 (GRCm39) probably null Het
Myh8 C A 11: 67,177,266 (GRCm39) T444N probably benign Het
Myo7b A G 18: 32,140,143 (GRCm39) Y216H probably damaging Het
Myom1 G A 17: 71,416,782 (GRCm39) V1382M probably damaging Het
Nbeal2 A T 9: 110,460,801 (GRCm39) Y1718N probably damaging Het
Npc1l1 A G 11: 6,164,546 (GRCm39) S1168P probably damaging Het
Or4c58 A G 2: 89,675,011 (GRCm39) F102S probably damaging Het
Or4d2 T A 11: 87,784,511 (GRCm39) K80* probably null Het
Or51f5 C T 7: 102,424,136 (GRCm39) A135V probably benign Het
Or5an9 T A 19: 12,187,824 (GRCm39) I298N probably damaging Het
Or6c8b G T 10: 128,882,364 (GRCm39) D189E probably damaging Het
Pcdha4 C A 18: 37,087,890 (GRCm39) A691E probably benign Het
Pde6a T G 18: 61,364,438 (GRCm39) F165V probably damaging Het
Ptpn14 A T 1: 189,578,561 (GRCm39) M340L probably benign Het
Rnasel G T 1: 153,630,890 (GRCm39) E469* probably null Het
Rsph3a T G 17: 8,164,790 (GRCm39) L50R probably benign Het
Rusc2 A G 4: 43,423,975 (GRCm39) Y1043C probably damaging Het
Serpinb6b A T 13: 33,161,541 (GRCm39) K86* probably null Het
Serpine1 T C 5: 137,092,063 (GRCm39) T392A probably benign Het
Shcbp1 A T 8: 4,794,529 (GRCm39) D421E probably damaging Het
Slc24a1 A G 9: 64,855,863 (GRCm39) V348A unknown Het
Slc26a7 A G 4: 14,506,621 (GRCm39) F605L probably benign Het
Slc66a1 A T 4: 139,027,655 (GRCm39) L229Q probably damaging Het
Spag17 A C 3: 99,963,588 (GRCm39) E1102A possibly damaging Het
Stab2 A G 10: 86,683,989 (GRCm39) V2390A probably benign Het
Stk11 A G 10: 79,961,883 (GRCm39) I35V probably benign Het
Stk24 T C 14: 121,531,693 (GRCm39) D321G possibly damaging Het
Tbx4 A T 11: 85,801,994 (GRCm39) N209I possibly damaging Het
Tmem225 T C 9: 40,060,681 (GRCm39) L80P probably damaging Het
Tnfrsf4 C T 4: 156,098,380 (GRCm39) T17I probably benign Het
Traf3ip1 G A 1: 91,429,037 (GRCm39) R268Q probably benign Het
Trhde T A 10: 114,636,497 (GRCm39) I237F probably benign Het
Ugt2a1 A T 5: 87,633,915 (GRCm39) W231R probably damaging Het
Vash1 ACTGCTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGC 12: 86,726,831 (GRCm39) probably benign Het
Vps16 T A 2: 130,284,305 (GRCm39) D685E probably benign Het
Washc4 A G 10: 83,409,657 (GRCm39) D602G probably damaging Het
Wdr59 A G 8: 112,211,816 (GRCm39) L377P possibly damaging Het
Wdr81 T C 11: 75,339,896 (GRCm39) E1364G probably damaging Het
Other mutations in Crebrf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Crebrf APN 17 26,962,067 (GRCm39) missense probably damaging 1.00
IGL03106:Crebrf APN 17 26,990,293 (GRCm39) missense probably damaging 1.00
R0046:Crebrf UTSW 17 26,982,308 (GRCm39) missense probably damaging 1.00
R0046:Crebrf UTSW 17 26,982,308 (GRCm39) missense probably damaging 1.00
R0254:Crebrf UTSW 17 26,958,568 (GRCm39) missense probably benign 0.01
R0448:Crebrf UTSW 17 26,962,076 (GRCm39) missense probably benign 0.42
R1268:Crebrf UTSW 17 26,958,570 (GRCm39) frame shift probably null
R1857:Crebrf UTSW 17 26,961,937 (GRCm39) missense probably benign 0.00
R1858:Crebrf UTSW 17 26,961,937 (GRCm39) missense probably benign 0.00
R1937:Crebrf UTSW 17 26,961,442 (GRCm39) missense probably damaging 1.00
R2005:Crebrf UTSW 17 26,961,857 (GRCm39) missense possibly damaging 0.53
R2006:Crebrf UTSW 17 26,961,857 (GRCm39) missense possibly damaging 0.53
R2031:Crebrf UTSW 17 26,961,895 (GRCm39) missense probably damaging 0.97
R2323:Crebrf UTSW 17 26,982,581 (GRCm39) unclassified probably benign
R2352:Crebrf UTSW 17 26,961,320 (GRCm39) missense probably damaging 1.00
R4510:Crebrf UTSW 17 26,961,938 (GRCm39) missense probably benign
R4511:Crebrf UTSW 17 26,961,938 (GRCm39) missense probably benign
R4585:Crebrf UTSW 17 26,981,229 (GRCm39) missense probably damaging 1.00
R4642:Crebrf UTSW 17 26,962,035 (GRCm39) missense probably benign 0.23
R4896:Crebrf UTSW 17 26,961,394 (GRCm39) missense possibly damaging 0.75
R5227:Crebrf UTSW 17 26,978,739 (GRCm39) missense probably damaging 1.00
R5377:Crebrf UTSW 17 26,978,839 (GRCm39) missense probably damaging 0.99
R5443:Crebrf UTSW 17 26,961,328 (GRCm39) missense probably damaging 1.00
R6017:Crebrf UTSW 17 26,976,823 (GRCm39) missense probably benign 0.04
R6132:Crebrf UTSW 17 26,982,377 (GRCm39) missense probably benign 0.03
R7464:Crebrf UTSW 17 26,982,461 (GRCm39) missense unknown
R7956:Crebrf UTSW 17 26,961,631 (GRCm39) missense probably benign 0.21
R8378:Crebrf UTSW 17 26,981,263 (GRCm39) missense probably damaging 1.00
R8784:Crebrf UTSW 17 26,961,520 (GRCm39) missense probably benign 0.14
R8916:Crebrf UTSW 17 26,958,583 (GRCm39) missense probably damaging 0.99
R9355:Crebrf UTSW 17 26,962,094 (GRCm39) missense probably damaging 0.99
R9687:Crebrf UTSW 17 26,982,601 (GRCm39) makesense probably null
Predicted Primers PCR Primer
(F):5'- AGGGCAAGGAAGCTATCATGTC -3'
(R):5'- TCATCTTGGTAAGGGCTAGAAAAGTC -3'

Sequencing Primer
(F):5'- GGAAGCTATCATGTCAGTAGCTTTTC -3'
(R):5'- GTCATCAAGACCCAGGTAATCC -3'
Posted On 2016-10-24