Incidental Mutation 'R5009:Greb1'
ID 390378
Institutional Source Beutler Lab
Gene Symbol Greb1
Ensembl Gene ENSMUSG00000036523
Gene Name gene regulated by estrogen in breast cancer protein
Synonyms 5730583K22Rik
MMRRC Submission 042600-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5009 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 16670615-16800886 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16724857 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 180 (T180A)
Ref Sequence ENSEMBL: ENSMUSP00000124348 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048064] [ENSMUST00000159120] [ENSMUST00000162112]
AlphaFold Q3UHK3
Predicted Effect possibly damaging
Transcript: ENSMUST00000048064
AA Change: T180A

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000044454
Gene: ENSMUSG00000036523
AA Change: T180A

DomainStartEndE-ValueType
Pfam:GREB1 1 1954 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000159120
AA Change: T180A

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125339
Gene: ENSMUSG00000036523
AA Change: T180A

DomainStartEndE-ValueType
low complexity region 52 71 N/A INTRINSIC
low complexity region 292 303 N/A INTRINSIC
low complexity region 437 453 N/A INTRINSIC
low complexity region 480 503 N/A INTRINSIC
low complexity region 631 643 N/A INTRINSIC
low complexity region 1100 1118 N/A INTRINSIC
low complexity region 1196 1207 N/A INTRINSIC
low complexity region 1251 1265 N/A INTRINSIC
low complexity region 1596 1607 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159573
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161036
Predicted Effect possibly damaging
Transcript: ENSMUST00000162112
AA Change: T180A

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124348
Gene: ENSMUSG00000036523
AA Change: T180A

DomainStartEndE-ValueType
low complexity region 52 71 N/A INTRINSIC
low complexity region 292 303 N/A INTRINSIC
low complexity region 437 453 N/A INTRINSIC
low complexity region 480 503 N/A INTRINSIC
low complexity region 631 643 N/A INTRINSIC
low complexity region 1128 1146 N/A INTRINSIC
low complexity region 1224 1235 N/A INTRINSIC
low complexity region 1279 1293 N/A INTRINSIC
low complexity region 1624 1635 N/A INTRINSIC
Meta Mutation Damage Score 0.0612 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 100% (91/91)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is an estrogen-responsive gene that is an early response gene in the estrogen receptor-regulated pathway. It is thought to play an important role in hormone-responsive tissues and cancer. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg2a T A 3: 37,433,277 (GRCm38) probably benign Het
Aim2 T C 1: 173,455,366 (GRCm38) Y5H probably damaging Het
Atosa G A 9: 75,008,889 (GRCm38) E257K probably damaging Het
Atp7b A G 8: 22,027,698 (GRCm38) S375P possibly damaging Het
BC106179 C A 16: 23,224,442 (GRCm38) probably benign Het
Brinp3 T A 1: 146,901,049 (GRCm38) N411K probably benign Het
Cacna1d A G 14: 30,079,332 (GRCm38) V1386A probably damaging Het
Cuzd1 T A 7: 131,311,523 (GRCm38) Y455F probably damaging Het
Dctd C T 8: 48,137,414 (GRCm38) probably benign Het
Dip2b T A 15: 100,195,784 (GRCm38) probably null Het
Dot1l G T 10: 80,771,196 (GRCm38) R108L probably benign Het
Dysf T C 6: 84,151,986 (GRCm38) S1413P probably damaging Het
Eea1 C A 10: 96,011,021 (GRCm38) R388S probably benign Het
Elavl1 C T 8: 4,301,723 (GRCm38) R131Q probably benign Het
Erich6b A G 14: 75,665,156 (GRCm38) T138A possibly damaging Het
Esr1 C T 10: 4,712,394 (GRCm38) T4I probably damaging Het
Ets1 T C 9: 32,732,999 (GRCm38) S152P possibly damaging Het
Fcsk C T 8: 110,887,830 (GRCm38) C609Y probably damaging Het
Flrt2 T C 12: 95,779,773 (GRCm38) V295A probably damaging Het
Gm13196 A G 2: 4,700,338 (GRCm38) noncoding transcript Het
Gm5965 T A 16: 88,778,424 (GRCm38) Y162N probably benign Het
Gm7853 A T 14: 36,089,509 (GRCm38) noncoding transcript Het
Gm8126 C T 14: 43,261,608 (GRCm38) A178V probably benign Het
Gpihbp1 A T 15: 75,597,721 (GRCm38) probably benign Het
Gsdme C T 6: 50,246,012 (GRCm38) V108M possibly damaging Het
Gtpbp4 T C 13: 8,989,066 (GRCm38) Y157C probably benign Het
Gvin3 A G 7: 106,601,560 (GRCm38) noncoding transcript Het
Hivep1 T A 13: 42,158,753 (GRCm38) F1490I probably benign Het
Il17ra T C 6: 120,482,207 (GRCm38) V773A probably benign Het
Kctd8 T A 5: 69,110,733 (GRCm38) T345S probably benign Het
Kdm3b T C 18: 34,824,710 (GRCm38) S1243P probably benign Het
Klhdc1 T C 12: 69,251,938 (GRCm38) V99A possibly damaging Het
Lars1 T G 18: 42,221,547 (GRCm38) E778D probably benign Het
Map7 C T 10: 20,261,918 (GRCm38) R279* probably null Het
Mdp1 C T 14: 55,659,226 (GRCm38) R126Q probably damaging Het
Mtbp A G 15: 55,603,187 (GRCm38) D532G probably benign Het
Mylk G A 16: 34,899,507 (GRCm38) V597I probably benign Het
Necab1 A G 4: 14,947,503 (GRCm38) probably benign Het
Nisch C T 14: 31,187,229 (GRCm38) probably benign Het
Nlrp1a T C 11: 71,122,705 (GRCm38) D573G probably benign Het
Noct C A 3: 51,248,061 (GRCm38) N83K probably damaging Het
Or10am5 A G 7: 6,514,547 (GRCm38) L294P probably damaging Het
Or1b1 C T 2: 37,105,455 (GRCm38) R65H possibly damaging Het
Or2a12 C A 6: 42,927,433 (GRCm38) D67E probably damaging Het
Or2ad1 T C 13: 21,142,265 (GRCm38) N264S probably benign Het
Or52n4b A G 7: 108,544,848 (GRCm38) I106V probably benign Het
Or6b13 C T 7: 140,201,838 (GRCm38) A311T probably benign Het
Or6c201 T C 10: 129,133,615 (GRCm38) H51R probably benign Het
Osgepl1 T A 1: 53,318,180 (GRCm38) V167D probably damaging Het
Pabpc6 T C 17: 9,668,560 (GRCm38) E354G probably damaging Het
Pgghg A C 7: 140,943,390 (GRCm38) D194A probably benign Het
Podnl1 A T 8: 84,126,258 (GRCm38) H19L probably benign Het
Pold1 G T 7: 44,533,902 (GRCm38) A977E probably benign Het
Poldip3 T C 15: 83,133,194 (GRCm38) T227A probably damaging Het
Prss43 A G 9: 110,827,421 (GRCm38) S59G possibly damaging Het
Ptpn14 T A 1: 189,850,534 (GRCm38) I526N probably benign Het
Ptprb T C 10: 116,348,127 (GRCm38) S1615P possibly damaging Het
Ptpro A G 6: 137,377,132 (GRCm38) K169E probably damaging Het
Rab15 T C 12: 76,800,567 (GRCm38) E114G probably damaging Het
Rcvrn A G 11: 67,695,724 (GRCm38) E103G probably benign Het
Repin1 T A 6: 48,594,845 (GRCm38) probably benign Het
Rita1 T A 5: 120,611,383 (GRCm38) K88N probably damaging Het
Rtkn2 T C 10: 68,041,409 (GRCm38) V433A probably benign Het
Runx1t1 T C 4: 13,865,231 (GRCm38) I314T possibly damaging Het
Serpinb9c A C 13: 33,154,431 (GRCm38) S190A probably benign Het
Shank2 C A 7: 144,070,179 (GRCm38) H300Q probably benign Het
Slc4a4 A G 5: 89,149,298 (GRCm38) probably null Het
Slc5a8 T C 10: 88,909,654 (GRCm38) S375P probably benign Het
Spns3 C A 11: 72,537,201 (GRCm38) W251L probably damaging Het
Spta1 A G 1: 174,240,223 (GRCm38) N2072S possibly damaging Het
Sptbn1 A G 11: 30,124,016 (GRCm38) V1351A probably benign Het
Sytl2 A T 7: 90,381,315 (GRCm38) probably benign Het
Tax1bp1 A G 6: 52,729,493 (GRCm38) probably benign Het
Tg A G 15: 66,696,586 (GRCm38) D1374G probably benign Het
Tlr1 A G 5: 64,926,224 (GRCm38) S337P probably damaging Het
Trp63 A T 16: 25,868,227 (GRCm38) D303V probably damaging Het
Ttn G A 2: 76,852,906 (GRCm38) probably benign Het
Txndc5 T C 13: 38,528,184 (GRCm38) probably null Het
Vmn2r77 T G 7: 86,801,807 (GRCm38) D300E possibly damaging Het
Zfp729a A T 13: 67,620,246 (GRCm38) N621K probably benign Het
Other mutations in Greb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Greb1 APN 12 16,711,961 (GRCm38) missense probably damaging 1.00
IGL01316:Greb1 APN 12 16,698,586 (GRCm38) missense probably benign 0.04
IGL01464:Greb1 APN 12 16,714,826 (GRCm38) missense probably damaging 0.99
IGL01474:Greb1 APN 12 16,684,501 (GRCm38) missense probably benign
IGL01522:Greb1 APN 12 16,701,201 (GRCm38) missense probably damaging 1.00
IGL01824:Greb1 APN 12 16,711,716 (GRCm38) nonsense probably null
IGL01837:Greb1 APN 12 16,684,451 (GRCm38) missense probably benign 0.19
IGL01991:Greb1 APN 12 16,699,681 (GRCm38) missense probably damaging 1.00
IGL01996:Greb1 APN 12 16,690,845 (GRCm38) missense possibly damaging 0.70
IGL02213:Greb1 APN 12 16,706,232 (GRCm38) missense probably damaging 1.00
IGL02267:Greb1 APN 12 16,717,208 (GRCm38) missense probably benign 0.00
IGL02512:Greb1 APN 12 16,692,712 (GRCm38) missense possibly damaging 0.79
IGL02583:Greb1 APN 12 16,706,295 (GRCm38) splice site probably benign
IGL02613:Greb1 APN 12 16,739,888 (GRCm38) critical splice donor site probably null
IGL02648:Greb1 APN 12 16,708,682 (GRCm38) missense probably damaging 1.00
IGL02679:Greb1 APN 12 16,708,723 (GRCm38) missense probably damaging 1.00
begraben UTSW 12 16,684,373 (GRCm38) missense possibly damaging 0.51
Eared UTSW 12 16,673,863 (GRCm38) missense probably damaging 1.00
Humpback UTSW 12 16,701,171 (GRCm38) missense probably damaging 1.00
pied_billed UTSW 12 16,724,857 (GRCm38) missense possibly damaging 0.79
rednecked UTSW 12 16,682,152 (GRCm38) missense probably damaging 0.99
G1patch:Greb1 UTSW 12 16,688,567 (GRCm38) missense probably damaging 1.00
IGL03048:Greb1 UTSW 12 16,733,331 (GRCm38) missense probably damaging 1.00
R0083:Greb1 UTSW 12 16,696,451 (GRCm38) missense probably benign
R0100:Greb1 UTSW 12 16,680,224 (GRCm38) missense probably benign 0.41
R0100:Greb1 UTSW 12 16,680,224 (GRCm38) missense probably benign 0.41
R0220:Greb1 UTSW 12 16,682,286 (GRCm38) missense probably damaging 1.00
R0245:Greb1 UTSW 12 16,696,456 (GRCm38) missense probably damaging 1.00
R0540:Greb1 UTSW 12 16,682,193 (GRCm38) missense probably damaging 1.00
R0547:Greb1 UTSW 12 16,723,411 (GRCm38) missense probably benign
R0563:Greb1 UTSW 12 16,680,267 (GRCm38) missense probably benign 0.23
R0607:Greb1 UTSW 12 16,682,193 (GRCm38) missense probably damaging 1.00
R0610:Greb1 UTSW 12 16,696,442 (GRCm38) missense probably benign
R0652:Greb1 UTSW 12 16,696,456 (GRCm38) missense probably damaging 1.00
R0659:Greb1 UTSW 12 16,680,212 (GRCm38) missense probably damaging 0.99
R0945:Greb1 UTSW 12 16,673,802 (GRCm38) missense probably benign 0.31
R1055:Greb1 UTSW 12 16,682,251 (GRCm38) missense probably damaging 0.98
R1445:Greb1 UTSW 12 16,707,851 (GRCm38) missense probably damaging 1.00
R1471:Greb1 UTSW 12 16,711,774 (GRCm38) missense probably damaging 0.97
R1503:Greb1 UTSW 12 16,724,819 (GRCm38) nonsense probably null
R1566:Greb1 UTSW 12 16,711,828 (GRCm38) missense possibly damaging 0.94
R1614:Greb1 UTSW 12 16,701,171 (GRCm38) missense probably damaging 1.00
R1623:Greb1 UTSW 12 16,674,770 (GRCm38) missense probably damaging 1.00
R1751:Greb1 UTSW 12 16,723,438 (GRCm38) splice site probably benign
R1778:Greb1 UTSW 12 16,690,894 (GRCm38) missense probably benign
R1842:Greb1 UTSW 12 16,696,243 (GRCm38) missense probably damaging 1.00
R2040:Greb1 UTSW 12 16,702,650 (GRCm38) missense probably damaging 1.00
R2153:Greb1 UTSW 12 16,699,532 (GRCm38) missense probably damaging 1.00
R2178:Greb1 UTSW 12 16,696,387 (GRCm38) missense probably damaging 1.00
R2194:Greb1 UTSW 12 16,690,908 (GRCm38) missense probably benign 0.08
R2248:Greb1 UTSW 12 16,680,378 (GRCm38) missense possibly damaging 0.90
R2474:Greb1 UTSW 12 16,714,953 (GRCm38) missense possibly damaging 0.93
R2509:Greb1 UTSW 12 16,724,922 (GRCm38) missense probably damaging 1.00
R2860:Greb1 UTSW 12 16,711,745 (GRCm38) missense probably benign 0.28
R2861:Greb1 UTSW 12 16,711,745 (GRCm38) missense probably benign 0.28
R2862:Greb1 UTSW 12 16,711,745 (GRCm38) missense probably benign 0.28
R2866:Greb1 UTSW 12 16,699,550 (GRCm38) missense probably damaging 1.00
R2890:Greb1 UTSW 12 16,704,478 (GRCm38) missense probably damaging 1.00
R3056:Greb1 UTSW 12 16,688,591 (GRCm38) missense probably damaging 0.96
R3863:Greb1 UTSW 12 16,702,420 (GRCm38) missense probably damaging 1.00
R3864:Greb1 UTSW 12 16,702,420 (GRCm38) missense probably damaging 1.00
R3956:Greb1 UTSW 12 16,682,299 (GRCm38) missense probably damaging 1.00
R4493:Greb1 UTSW 12 16,698,610 (GRCm38) missense probably benign 0.14
R4548:Greb1 UTSW 12 16,699,675 (GRCm38) missense probably damaging 1.00
R4683:Greb1 UTSW 12 16,711,773 (GRCm38) missense possibly damaging 0.75
R4739:Greb1 UTSW 12 16,696,328 (GRCm38) missense probably damaging 1.00
R4770:Greb1 UTSW 12 16,681,356 (GRCm38) missense probably benign 0.03
R4838:Greb1 UTSW 12 16,684,360 (GRCm38) critical splice donor site probably null
R4925:Greb1 UTSW 12 16,681,471 (GRCm38) missense probably damaging 1.00
R4982:Greb1 UTSW 12 16,724,761 (GRCm38) missense probably damaging 0.98
R5086:Greb1 UTSW 12 16,708,022 (GRCm38) intron probably benign
R5213:Greb1 UTSW 12 16,714,790 (GRCm38) nonsense probably null
R5310:Greb1 UTSW 12 16,716,759 (GRCm38) missense probably benign 0.09
R5353:Greb1 UTSW 12 16,688,566 (GRCm38) nonsense probably null
R5544:Greb1 UTSW 12 16,673,796 (GRCm38) missense probably damaging 1.00
R5605:Greb1 UTSW 12 16,708,726 (GRCm38) missense probably damaging 0.96
R5708:Greb1 UTSW 12 16,673,842 (GRCm38) missense probably benign 0.11
R5837:Greb1 UTSW 12 16,688,585 (GRCm38) missense probably damaging 1.00
R5890:Greb1 UTSW 12 16,733,421 (GRCm38) missense possibly damaging 0.90
R5938:Greb1 UTSW 12 16,717,258 (GRCm38) missense probably damaging 1.00
R6049:Greb1 UTSW 12 16,681,394 (GRCm38) missense probably damaging 0.99
R6093:Greb1 UTSW 12 16,684,486 (GRCm38) missense probably benign
R6120:Greb1 UTSW 12 16,708,621 (GRCm38) missense probably damaging 0.99
R6175:Greb1 UTSW 12 16,674,770 (GRCm38) missense probably damaging 1.00
R6247:Greb1 UTSW 12 16,716,675 (GRCm38) missense probably damaging 1.00
R6274:Greb1 UTSW 12 16,735,151 (GRCm38) missense probably damaging 0.97
R6376:Greb1 UTSW 12 16,699,579 (GRCm38) missense probably damaging 0.97
R6523:Greb1 UTSW 12 16,684,373 (GRCm38) missense possibly damaging 0.51
R6557:Greb1 UTSW 12 16,710,383 (GRCm38) missense probably benign 0.00
R6602:Greb1 UTSW 12 16,709,440 (GRCm38) missense probably benign 0.44
R6621:Greb1 UTSW 12 16,692,717 (GRCm38) missense probably damaging 1.00
R6645:Greb1 UTSW 12 16,698,579 (GRCm38) missense probably benign 0.07
R6725:Greb1 UTSW 12 16,688,567 (GRCm38) missense probably damaging 1.00
R6750:Greb1 UTSW 12 16,688,583 (GRCm38) missense probably benign 0.05
R6863:Greb1 UTSW 12 16,684,420 (GRCm38) missense probably damaging 1.00
R6914:Greb1 UTSW 12 16,707,902 (GRCm38) missense probably damaging 0.97
R6996:Greb1 UTSW 12 16,723,354 (GRCm38) missense probably benign 0.00
R7083:Greb1 UTSW 12 16,723,314 (GRCm38) missense probably benign
R7147:Greb1 UTSW 12 16,733,427 (GRCm38) missense probably damaging 1.00
R7238:Greb1 UTSW 12 16,674,672 (GRCm38) missense probably damaging 0.99
R7290:Greb1 UTSW 12 16,711,738 (GRCm38) missense probably damaging 1.00
R7358:Greb1 UTSW 12 16,724,881 (GRCm38) missense probably damaging 1.00
R7395:Greb1 UTSW 12 16,709,430 (GRCm38) critical splice donor site probably null
R7526:Greb1 UTSW 12 16,716,765 (GRCm38) missense probably benign 0.00
R7530:Greb1 UTSW 12 16,717,206 (GRCm38) missense probably benign 0.02
R7536:Greb1 UTSW 12 16,682,185 (GRCm38) missense probably damaging 1.00
R7643:Greb1 UTSW 12 16,711,996 (GRCm38) missense probably damaging 0.99
R7732:Greb1 UTSW 12 16,673,863 (GRCm38) missense probably damaging 1.00
R7740:Greb1 UTSW 12 16,740,121 (GRCm38) start gained probably benign
R7747:Greb1 UTSW 12 16,674,795 (GRCm38) missense probably benign 0.01
R7760:Greb1 UTSW 12 16,723,416 (GRCm38) missense probably benign
R7937:Greb1 UTSW 12 16,716,669 (GRCm38) missense probably damaging 0.99
R8043:Greb1 UTSW 12 16,711,789 (GRCm38) missense probably damaging 1.00
R8259:Greb1 UTSW 12 16,724,924 (GRCm38) nonsense probably null
R8553:Greb1 UTSW 12 16,723,327 (GRCm38) missense probably benign 0.00
R8559:Greb1 UTSW 12 16,696,435 (GRCm38) missense probably damaging 1.00
R8690:Greb1 UTSW 12 16,696,547 (GRCm38) missense probably benign 0.03
R8830:Greb1 UTSW 12 16,688,519 (GRCm38) missense probably benign 0.35
R8911:Greb1 UTSW 12 16,690,902 (GRCm38) missense possibly damaging 0.84
R8963:Greb1 UTSW 12 16,724,884 (GRCm38) missense probably damaging 1.00
R8986:Greb1 UTSW 12 16,684,456 (GRCm38) missense probably damaging 0.99
R9013:Greb1 UTSW 12 16,739,969 (GRCm38) missense probably damaging 1.00
R9279:Greb1 UTSW 12 16,682,152 (GRCm38) missense probably damaging 0.99
R9360:Greb1 UTSW 12 16,740,036 (GRCm38) missense probably damaging 1.00
R9563:Greb1 UTSW 12 16,724,823 (GRCm38) missense probably benign 0.06
R9616:Greb1 UTSW 12 16,740,037 (GRCm38) missense probably damaging 1.00
R9627:Greb1 UTSW 12 16,706,166 (GRCm38) missense probably damaging 1.00
R9731:Greb1 UTSW 12 16,688,597 (GRCm38) missense probably damaging 1.00
R9761:Greb1 UTSW 12 16,701,274 (GRCm38) missense probably benign 0.05
Z1176:Greb1 UTSW 12 16,696,756 (GRCm38) missense probably benign 0.00
Z1177:Greb1 UTSW 12 16,702,491 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTGTACAGAGATCCCACCC -3'
(R):5'- CTGATTACCAGGACAGGTTCTCTG -3'

Sequencing Primer
(F):5'- CTCCTAGCCTCACAATGCC -3'
(R):5'- CTCTGGCACTCTCTGGGTG -3'
Posted On 2016-06-06