Incidental Mutation 'R5155:Srebf2'
ID 396692
Institutional Source Beutler Lab
Gene Symbol Srebf2
Ensembl Gene ENSMUSG00000022463
Gene Name sterol regulatory element binding factor 2
Synonyms SREBP-2, bHLHd2, nuc, SREBP2, lop13, SREBP2gc
MMRRC Submission 042737-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5155 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 82031455-82089580 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82080427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 40 (D40G)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023100] [ENSMUST00000229336]
AlphaFold Q3U1N2
Predicted Effect probably damaging
Transcript: ENSMUST00000023100
AA Change: D880G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023100
Gene: ENSMUSG00000022463
AA Change: D880G

DomainStartEndE-ValueType
low complexity region 6 26 N/A INTRINSIC
low complexity region 56 75 N/A INTRINSIC
low complexity region 94 104 N/A INTRINSIC
low complexity region 118 137 N/A INTRINSIC
low complexity region 178 204 N/A INTRINSIC
low complexity region 210 235 N/A INTRINSIC
HLH 325 375 3.54e-15 SMART
low complexity region 383 394 N/A INTRINSIC
low complexity region 397 408 N/A INTRINSIC
low complexity region 570 586 N/A INTRINSIC
low complexity region 617 630 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083531
Predicted Effect probably damaging
Transcript: ENSMUST00000229336
AA Change: D840G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000230955
AA Change: D40G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the a ubiquitously expressed transcription factor that controls cholesterol homeostasis by regulating transcription of sterol-regulated genes. The encoded protein contains a basic helix-loop-helix-leucine zipper (bHLH-Zip) domain and binds the sterol regulatory element 1 motif. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a null allele display prenatal lethality. Mice homozygous for an ENU mutation display cataracts and persistent wounds of the skin. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,482,447 (GRCm39) V4326A probably damaging Het
Actn4 A G 7: 28,661,442 (GRCm39) probably null Het
Adamts8 A G 9: 30,865,844 (GRCm39) D464G probably benign Het
Adss1 T C 12: 112,604,642 (GRCm39) I366T probably damaging Het
Alox12e T C 11: 70,207,081 (GRCm39) D575G possibly damaging Het
Ankrd44 A T 1: 54,817,489 (GRCm39) M73K probably benign Het
Ap4e1 A G 2: 126,905,289 (GRCm39) T987A probably benign Het
Banp A C 8: 122,727,759 (GRCm39) S318R probably damaging Het
Bcas1 T C 2: 170,260,538 (GRCm39) H47R probably damaging Het
Brwd1 G T 16: 95,803,993 (GRCm39) S2524* probably null Het
Btbd8 T C 5: 107,638,569 (GRCm39) I323T probably damaging Het
Cand2 T A 6: 115,769,219 (GRCm39) D676E probably benign Het
Cc2d1a A T 8: 84,867,755 (GRCm39) H224Q probably benign Het
Ccdc138 A T 10: 58,343,394 (GRCm39) Y83F probably benign Het
Ccdc162 A T 10: 41,429,576 (GRCm39) probably null Het
Ccdc162 A C 10: 41,455,147 (GRCm39) S396A probably damaging Het
Ces1e A T 8: 93,928,034 (GRCm39) *562R probably null Het
Clstn2 T A 9: 97,338,484 (GRCm39) M892L probably benign Het
Crybg3 T C 16: 59,345,264 (GRCm39) T2673A possibly damaging Het
Cstf3 A G 2: 104,482,830 (GRCm39) N326S probably benign Het
Cux1 G A 5: 136,594,295 (GRCm39) probably benign Het
Cyb5r4 T G 9: 86,922,456 (GRCm39) M155R probably benign Het
D130043K22Rik A G 13: 25,056,273 (GRCm39) D535G probably damaging Het
Dnah2 G A 11: 69,313,362 (GRCm39) P4266S probably damaging Het
Dnah7a T A 1: 53,682,654 (GRCm39) N272I probably benign Het
Dsg2 A G 18: 20,731,715 (GRCm39) Y779C possibly damaging Het
Eif4g3 T A 4: 137,854,054 (GRCm39) N507K probably benign Het
Elavl4 T C 4: 110,149,833 (GRCm39) Q3R probably null Het
Engase T G 11: 118,372,107 (GRCm39) I133S probably benign Het
Ercc5 T C 1: 44,219,782 (GRCm39) V1018A probably damaging Het
Ext1 C A 15: 52,939,213 (GRCm39) W612L probably damaging Het
Faap100 T A 11: 120,268,458 (GRCm39) E105V possibly damaging Het
Fam8a1 G A 13: 46,827,038 (GRCm39) A270T probably benign Het
Fhdc1 T G 3: 84,353,457 (GRCm39) Q589H probably benign Het
Gatm G A 2: 122,440,334 (GRCm39) T35I probably benign Het
Gcgr T C 11: 120,427,872 (GRCm39) I271T probably benign Het
Gm527 T A 12: 64,970,381 (GRCm39) Y239N probably damaging Het
H2-Ab1 A G 17: 34,486,358 (GRCm39) H139R possibly damaging Het
Herc2 G A 7: 55,877,574 (GRCm39) R4547Q possibly damaging Het
Itga1 A T 13: 115,171,839 (GRCm39) S89T probably benign Het
Kash5 C A 7: 44,839,078 (GRCm39) E53* probably null Het
Katnip A G 7: 125,471,356 (GRCm39) T1486A probably damaging Het
Lrba A G 3: 86,258,607 (GRCm39) M1365V probably benign Het
Lrp1b A C 2: 41,618,634 (GRCm39) probably null Het
Map1a G A 2: 121,132,867 (GRCm39) A990T probably damaging Het
Micall2 C A 5: 139,695,986 (GRCm39) L784F probably damaging Het
Mmp9 T C 2: 164,790,986 (GRCm39) probably null Het
Mrps7 T A 11: 115,495,655 (GRCm39) Y64* probably null Het
Mslnl C T 17: 25,957,942 (GRCm39) Q62* probably null Het
Nfil3 A G 13: 53,122,616 (GRCm39) L96P probably damaging Het
Or2f1 A G 6: 42,721,748 (GRCm39) Y259C probably damaging Het
Phf3 T C 1: 30,863,457 (GRCm39) D756G possibly damaging Het
Plxnd1 C T 6: 115,935,949 (GRCm39) probably null Het
Prickle4 C T 17: 48,000,982 (GRCm39) probably null Het
Prr9 T A 3: 92,030,356 (GRCm39) T95S possibly damaging Het
Prrc2a A G 17: 35,379,067 (GRCm39) probably null Het
Prrt3 A G 6: 113,474,520 (GRCm39) probably null Het
Psme4 A T 11: 30,826,806 (GRCm39) Y1775F probably damaging Het
Pum2 T C 12: 8,763,572 (GRCm39) V243A possibly damaging Het
Rnf32 T C 5: 29,408,145 (GRCm39) S125P probably damaging Het
Rnf8 A G 17: 29,845,604 (GRCm39) Y65C probably damaging Het
Rph3a T C 5: 121,086,833 (GRCm39) T456A possibly damaging Het
Scaper T A 9: 55,463,370 (GRCm39) Q854L probably null Het
Sez6l2 T C 7: 126,561,545 (GRCm39) S472P probably damaging Het
Spsb3 T C 17: 25,105,969 (GRCm39) probably benign Het
Sspo A G 6: 48,437,408 (GRCm39) N1389D probably benign Het
Taf4b G T 18: 14,963,152 (GRCm39) A631S probably benign Het
Tcstv1b T C 13: 120,635,089 (GRCm39) S124P probably benign Het
Tigd4 G A 3: 84,501,970 (GRCm39) V296M possibly damaging Het
Tsc22d2 T A 3: 58,324,737 (GRCm39) probably benign Het
Uso1 T A 5: 92,315,194 (GRCm39) probably null Het
Vmn2r6 T G 3: 64,445,935 (GRCm39) N597H probably benign Het
Zfc3h1 T A 10: 115,248,026 (GRCm39) S1076R possibly damaging Het
Zfp64 T A 2: 168,748,885 (GRCm39) Q44L probably benign Het
Other mutations in Srebf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01311:Srebf2 APN 15 82,076,404 (GRCm39) unclassified probably benign
IGL01409:Srebf2 APN 15 82,055,419 (GRCm39) missense probably damaging 1.00
IGL01415:Srebf2 APN 15 82,061,663 (GRCm39) missense probably benign 0.08
IGL01614:Srebf2 APN 15 82,063,054 (GRCm39) missense probably benign
IGL01985:Srebf2 APN 15 82,076,560 (GRCm39) missense probably benign 0.01
IGL02423:Srebf2 APN 15 82,059,298 (GRCm39) missense probably damaging 1.00
IGL02436:Srebf2 APN 15 82,081,928 (GRCm39) missense probably benign 0.41
IGL02805:Srebf2 APN 15 82,054,045 (GRCm39) missense probably benign 0.00
IGL02818:Srebf2 APN 15 82,069,575 (GRCm39) missense probably damaging 0.99
IGL02823:Srebf2 APN 15 82,083,975 (GRCm39) missense possibly damaging 0.87
IGL02895:Srebf2 APN 15 82,031,668 (GRCm39) missense possibly damaging 0.72
IGL03064:Srebf2 APN 15 82,076,423 (GRCm39) missense probably benign 0.01
IGL03378:Srebf2 APN 15 82,053,989 (GRCm39) missense probably damaging 1.00
FR4449:Srebf2 UTSW 15 82,069,536 (GRCm39) missense probably damaging 1.00
FR4548:Srebf2 UTSW 15 82,069,536 (GRCm39) missense probably damaging 1.00
FR4737:Srebf2 UTSW 15 82,069,536 (GRCm39) missense probably damaging 1.00
FR4976:Srebf2 UTSW 15 82,069,536 (GRCm39) missense probably damaging 1.00
R0230:Srebf2 UTSW 15 82,066,286 (GRCm39) missense probably damaging 1.00
R0702:Srebf2 UTSW 15 82,061,610 (GRCm39) missense probably damaging 1.00
R0829:Srebf2 UTSW 15 82,061,790 (GRCm39) critical splice donor site probably null
R1241:Srebf2 UTSW 15 82,061,720 (GRCm39) missense probably damaging 1.00
R1898:Srebf2 UTSW 15 82,087,936 (GRCm39) missense probably damaging 1.00
R1957:Srebf2 UTSW 15 82,079,155 (GRCm39) missense probably benign 0.26
R2395:Srebf2 UTSW 15 82,076,456 (GRCm39) missense probably benign 0.26
R3771:Srebf2 UTSW 15 82,066,309 (GRCm39) missense probably benign 0.02
R3772:Srebf2 UTSW 15 82,066,309 (GRCm39) missense probably benign 0.02
R3773:Srebf2 UTSW 15 82,066,309 (GRCm39) missense probably benign 0.02
R4030:Srebf2 UTSW 15 82,062,984 (GRCm39) missense probably damaging 1.00
R4613:Srebf2 UTSW 15 82,069,549 (GRCm39) missense possibly damaging 0.94
R4670:Srebf2 UTSW 15 82,076,503 (GRCm39) missense probably damaging 1.00
R4758:Srebf2 UTSW 15 82,080,370 (GRCm39) missense probably benign 0.01
R4812:Srebf2 UTSW 15 82,088,026 (GRCm39) missense probably damaging 0.98
R5058:Srebf2 UTSW 15 82,066,251 (GRCm39) missense probably damaging 0.99
R5063:Srebf2 UTSW 15 82,061,652 (GRCm39) missense probably benign
R5166:Srebf2 UTSW 15 82,069,603 (GRCm39) missense probably damaging 1.00
R5330:Srebf2 UTSW 15 82,080,409 (GRCm39) missense possibly damaging 0.88
R5398:Srebf2 UTSW 15 82,055,443 (GRCm39) missense probably damaging 1.00
R5662:Srebf2 UTSW 15 82,079,204 (GRCm39) missense probably benign 0.01
R5668:Srebf2 UTSW 15 82,076,456 (GRCm39) missense probably benign 0.26
R5867:Srebf2 UTSW 15 82,053,987 (GRCm39) missense probably damaging 1.00
R6030:Srebf2 UTSW 15 82,061,477 (GRCm39) splice site probably null
R6030:Srebf2 UTSW 15 82,061,477 (GRCm39) splice site probably null
R6928:Srebf2 UTSW 15 82,087,924 (GRCm39) nonsense probably null
R7269:Srebf2 UTSW 15 82,088,270 (GRCm39) missense probably benign 0.00
R7464:Srebf2 UTSW 15 82,057,075 (GRCm39) missense probably damaging 0.97
R7632:Srebf2 UTSW 15 82,069,497 (GRCm39) missense probably benign
R7831:Srebf2 UTSW 15 82,066,288 (GRCm39) missense probably damaging 0.98
R7895:Srebf2 UTSW 15 82,061,441 (GRCm39) missense probably benign 0.02
R7938:Srebf2 UTSW 15 82,057,016 (GRCm39) missense probably damaging 1.00
R7974:Srebf2 UTSW 15 82,062,966 (GRCm39) missense probably damaging 1.00
R7991:Srebf2 UTSW 15 82,088,253 (GRCm39) missense probably damaging 1.00
R8002:Srebf2 UTSW 15 82,062,966 (GRCm39) missense probably damaging 1.00
R8022:Srebf2 UTSW 15 82,062,966 (GRCm39) missense probably damaging 1.00
R8137:Srebf2 UTSW 15 82,062,966 (GRCm39) missense probably damaging 1.00
R8138:Srebf2 UTSW 15 82,062,966 (GRCm39) missense probably damaging 1.00
R8139:Srebf2 UTSW 15 82,062,966 (GRCm39) missense probably damaging 1.00
R9094:Srebf2 UTSW 15 82,056,975 (GRCm39) missense possibly damaging 0.88
R9188:Srebf2 UTSW 15 82,066,357 (GRCm39) missense probably benign 0.00
R9284:Srebf2 UTSW 15 82,066,357 (GRCm39) missense probably benign 0.00
R9366:Srebf2 UTSW 15 82,083,837 (GRCm39) missense probably benign 0.00
R9727:Srebf2 UTSW 15 82,076,506 (GRCm39) missense possibly damaging 0.50
X0064:Srebf2 UTSW 15 82,059,421 (GRCm39) missense probably damaging 1.00
Z1088:Srebf2 UTSW 15 82,079,122 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGCGTGTTCAAGTCCTTGC -3'
(R):5'- TCTGACCCCAGATCAACATGG -3'

Sequencing Primer
(F):5'- AGAGTGACCTGAAGATTCCTTGTCC -3'
(R):5'- GATCAACATGGCTATCTGGACCTG -3'
Posted On 2016-06-21