Incidental Mutation 'R6132:Crebrf'
ID 487207
Institutional Source Beutler Lab
Gene Symbol Crebrf
Ensembl Gene ENSMUSG00000048249
Gene Name CREB3 regulatory factor
Synonyms A930001N09Rik
MMRRC Submission 044279-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.539) question?
Stock # R6132 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 26934624-26995609 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 26982377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 588 (P588S)
Ref Sequence ENSEMBL: ENSMUSP00000059102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062519] [ENSMUST00000142539] [ENSMUST00000151681]
AlphaFold Q8CDG5
Predicted Effect probably benign
Transcript: ENSMUST00000062519
AA Change: P588S

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000059102
Gene: ENSMUSG00000048249
AA Change: P588S

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 probably benign
Transcript: ENSMUST00000142539
AA Change: P580S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000114274
Gene: ENSMUSG00000048249
AA Change: P580S

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: ENSMUST00000151681
SMART Domains Protein: ENSMUSP00000119186
Gene: ENSMUSG00000048249

DomainStartEndE-ValueType
Blast:BRLZ 100 137 2e-18 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176845
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (49/51)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,960,643 (GRCm39) Y702H probably benign Het
Adgrv1 G T 13: 81,654,195 (GRCm39) N2225K probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Alkbh5 G T 11: 60,428,821 (GRCm39) probably benign Het
Atp5mc1 A G 11: 95,965,850 (GRCm39) M1T probably null Het
Ctsr A C 13: 61,309,582 (GRCm39) probably null Het
Cyp2c68 A G 19: 39,691,858 (GRCm39) V355A possibly damaging Het
Ddx52 A G 11: 83,850,283 (GRCm39) K555E possibly damaging Het
Depdc5 T A 5: 33,067,811 (GRCm39) S410T probably damaging Het
Dhx30 A T 9: 109,914,847 (GRCm39) I884N probably damaging Het
Dlg1 A T 16: 31,655,059 (GRCm39) N518I possibly damaging Het
Dnah12 T A 14: 26,439,066 (GRCm39) I506N probably damaging Het
Efcab6 A G 15: 83,917,173 (GRCm39) L129P probably damaging Het
Erap1 A G 13: 74,808,401 (GRCm39) N38D probably benign Het
Esf1 A G 2: 140,001,699 (GRCm39) F383L probably benign Het
Exoc4 A G 6: 33,735,033 (GRCm39) E550G probably damaging Het
Fbxo44 G A 4: 148,240,565 (GRCm39) T221I probably benign Het
Gal3st2b A T 1: 93,867,688 (GRCm39) M112L possibly damaging Het
Golph3l C G 3: 95,499,145 (GRCm39) P96A probably benign Het
Gprc6a T A 10: 51,491,356 (GRCm39) I727F possibly damaging Het
Grin3b T C 10: 79,812,274 (GRCm39) L479P probably damaging Het
Kdm5a C T 6: 120,351,892 (GRCm39) H161Y probably damaging Het
Lman2 A G 13: 55,510,038 (GRCm39) S73P probably benign Het
Map3k19 T C 1: 127,778,213 (GRCm39) N4S possibly damaging Het
Mkln1 G A 6: 31,408,155 (GRCm39) V161M probably damaging Het
Mmel1 C T 4: 154,979,475 (GRCm39) H728Y probably damaging Het
Nova2 G A 7: 18,691,794 (GRCm39) A244T unknown Het
Nrcam T A 12: 44,617,007 (GRCm39) Y668N probably damaging Het
Oacyl G T 18: 65,859,426 (GRCm39) G255W probably damaging Het
Omd A C 13: 49,743,843 (GRCm39) I298L probably damaging Het
Or5ac19 A G 16: 59,089,367 (GRCm39) V221A probably damaging Het
Or5ak24 A T 2: 85,260,490 (GRCm39) S228T probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Otor A T 2: 142,920,520 (GRCm39) D34V probably damaging Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Pwwp2a A G 11: 43,596,455 (GRCm39) Y540C probably damaging Het
Rttn T A 18: 89,133,770 (GRCm39) probably null Het
S1pr4 G A 10: 81,335,030 (GRCm39) A148V probably benign Het
Scn10a C T 9: 119,442,761 (GRCm39) V1495M possibly damaging Het
Sel1l3 T C 5: 53,357,531 (GRCm39) K154E possibly damaging Het
Sema3a T G 5: 13,573,142 (GRCm39) probably null Het
Slf2 T A 19: 44,949,300 (GRCm39) N870K possibly damaging Het
Spmip6 C T 4: 41,517,160 (GRCm39) M1I probably null Het
Syne2 T C 12: 75,991,921 (GRCm39) V1962A probably benign Het
Tarbp1 T A 8: 127,161,548 (GRCm39) I1219F probably benign Het
Tet1 A C 10: 62,649,079 (GRCm39) C173W probably damaging Het
Tnn A G 1: 159,973,641 (GRCm39) F242S probably damaging Het
Tollip A G 7: 141,443,334 (GRCm39) S174P probably benign Het
Tsr3 G T 17: 25,460,835 (GRCm39) D234Y probably null Het
Vmn2r106 T C 17: 20,488,666 (GRCm39) T578A probably benign Het
Zfp457 G T 13: 67,441,360 (GRCm39) S309* probably null 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
R5540:Crebrf UTSW 17 26,961,071 (GRCm39) missense possibly damaging 0.90
R6017:Crebrf UTSW 17 26,976,823 (GRCm39) missense probably benign 0.04
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'- TGGCATTTCCCCAGATTCTG -3'
(R):5'- CTGAGGAAGATAAATCCCTACCGAG -3'

Sequencing Primer
(F):5'- GAAATTCATCCCAAGGCTTTGTGC -3'
(R):5'- CGAGAGGTGGGGGCAGATG -3'
Posted On 2017-10-10