Incidental Mutation 'R2088:Cul9'
ID 231621
Institutional Source Beutler Lab
Gene Symbol Cul9
Ensembl Gene ENSMUSG00000040327
Gene Name cullin 9
Synonyms Parc, 1810035I07Rik
MMRRC Submission 040093-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R2088 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 46811535-46857314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46837575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 990 (L990P)
Ref Sequence ENSEMBL: ENSMUSP00000138418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066026] [ENSMUST00000182485]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000066026
AA Change: L990P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067736
Gene: ENSMUSG00000040327
AA Change: L990P

DomainStartEndE-ValueType
low complexity region 46 61 N/A INTRINSIC
low complexity region 119 131 N/A INTRINSIC
low complexity region 345 357 N/A INTRINSIC
Pfam:Cul7 367 441 1e-35 PFAM
low complexity region 447 460 N/A INTRINSIC
low complexity region 525 540 N/A INTRINSIC
low complexity region 845 860 N/A INTRINSIC
low complexity region 873 880 N/A INTRINSIC
APC10 1166 1325 1.97e-56 SMART
low complexity region 1437 1450 N/A INTRINSIC
low complexity region 1563 1578 N/A INTRINSIC
low complexity region 1646 1671 N/A INTRINSIC
Cullin_Nedd8 1867 1950 7.55e-6 SMART
Blast:RING 2074 2122 2e-13 BLAST
IBR 2144 2207 8.99e-14 SMART
IBR 2228 2283 4.66e-2 SMART
low complexity region 2503 2520 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181301
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182315
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182451
Predicted Effect probably damaging
Transcript: ENSMUST00000182485
AA Change: L990P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138418
Gene: ENSMUSG00000040327
AA Change: L990P

DomainStartEndE-ValueType
low complexity region 46 61 N/A INTRINSIC
low complexity region 119 131 N/A INTRINSIC
low complexity region 345 357 N/A INTRINSIC
Pfam:Cul7 367 442 1.4e-33 PFAM
low complexity region 447 460 N/A INTRINSIC
low complexity region 525 540 N/A INTRINSIC
low complexity region 845 860 N/A INTRINSIC
low complexity region 873 880 N/A INTRINSIC
APC10 1166 1325 1.97e-56 SMART
low complexity region 1437 1450 N/A INTRINSIC
low complexity region 1563 1578 N/A INTRINSIC
low complexity region 1646 1671 N/A INTRINSIC
Cullin_Nedd8 1867 1950 7.55e-6 SMART
Blast:RING 2074 2122 3e-13 BLAST
IBR 2144 2207 8.99e-14 SMART
IBR 2228 2283 4.66e-2 SMART
coiled coil region 2461 2497 N/A INTRINSIC
low complexity region 2513 2530 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182530
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182668
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182799
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183163
Meta Mutation Damage Score 0.4703 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 97% (66/68)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body weight, increased incidence of tumors, and decreased cellular sensitivity to radiation-induced apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankk1 T C 9: 49,333,265 (GRCm39) probably benign Het
Ano5 T A 7: 51,237,454 (GRCm39) N759K possibly damaging Het
Arhgef10 A G 8: 15,033,898 (GRCm39) T1072A possibly damaging Het
BC107364 T C 3: 96,341,745 (GRCm39) T93A unknown Het
Canx C T 11: 50,201,217 (GRCm39) E97K possibly damaging Het
Casp8ap2 T C 4: 32,631,126 (GRCm39) L62P probably damaging Het
Cbfa2t3 C T 8: 123,364,725 (GRCm39) probably benign Het
Cmklr2 A T 1: 63,222,811 (GRCm39) probably null Het
Cmya5 A T 13: 93,229,320 (GRCm39) S1923T probably damaging Het
Cntnap1 T A 11: 101,073,373 (GRCm39) I618N probably damaging Het
Cox17 C G 16: 38,167,542 (GRCm39) P27R probably damaging Het
Ctnna3 A G 10: 64,708,986 (GRCm39) E675G probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Eif2d T C 1: 131,092,464 (GRCm39) V374A probably damaging Het
Fhdc1 T C 3: 84,382,033 (GRCm39) probably benign Het
Fryl T A 5: 73,222,804 (GRCm39) I1926F probably benign Het
Galnt4 A G 10: 98,945,046 (GRCm39) D257G probably damaging Het
Gatm A G 2: 122,428,629 (GRCm39) V344A probably benign Het
Gli1 T G 10: 127,167,369 (GRCm39) Y628S probably damaging Het
Gsdmc3 A C 15: 63,732,063 (GRCm39) probably null Het
Hap1 T C 11: 100,246,828 (GRCm39) T26A probably benign Het
Helz2 C T 2: 180,876,895 (GRCm39) G1200S probably benign Het
Insyn1 T C 9: 58,406,288 (GRCm39) F66S probably damaging Het
Iqgap2 C T 13: 96,028,171 (GRCm39) probably null Het
Itga3 T A 11: 94,943,320 (GRCm39) I895F probably benign Het
Klhl33 A T 14: 51,130,230 (GRCm39) C421* probably null Het
Klra2 T C 6: 131,219,789 (GRCm39) T131A probably damaging Het
Krt14 T C 11: 100,094,949 (GRCm39) E426G possibly damaging Het
Limd2 A G 11: 106,049,568 (GRCm39) F107L probably damaging Het
Lipo4 A T 19: 33,477,469 (GRCm39) N318K possibly damaging Het
Mab21l2 T G 3: 86,454,316 (GRCm39) D228A probably damaging Het
Moxd2 G A 6: 40,861,901 (GRCm39) H224Y probably damaging Het
Mpp4 T C 1: 59,162,624 (GRCm39) Y521C possibly damaging Het
Msto1 C T 3: 88,818,297 (GRCm39) A317T probably damaging Het
Mtmr4 T C 11: 87,501,793 (GRCm39) S559P probably damaging Het
Muc4 T A 16: 32,576,783 (GRCm39) H2094Q unknown Het
Ndufa11 C A 17: 57,024,922 (GRCm39) T28K probably damaging Het
Or2b4 A G 17: 38,116,686 (GRCm39) T217A probably benign Het
Or4f4b G T 2: 111,314,623 (GRCm39) A283S probably damaging Het
Orai2 C A 5: 136,179,610 (GRCm39) R155L probably damaging Het
Pde4c A G 8: 71,202,005 (GRCm39) D582G possibly damaging Het
Pde4dip T C 3: 97,661,749 (GRCm39) E609G probably null Het
Prune2 A G 19: 17,097,109 (GRCm39) D871G possibly damaging Het
Rbpms2 T A 9: 65,538,121 (GRCm39) L4Q probably damaging Het
Rhbg T C 3: 88,154,765 (GRCm39) Y213C probably damaging Het
Rplp0 T A 5: 115,700,562 (GRCm39) N243K possibly damaging Het
Rtp4 A T 16: 23,431,963 (GRCm39) H165L possibly damaging Het
Ryr2 C A 13: 11,677,115 (GRCm39) M3245I probably benign Het
Sh2b2 T A 5: 136,260,968 (GRCm39) M83L possibly damaging Het
Simc1 T C 13: 54,689,347 (GRCm39) I284T probably damaging Het
Skp2 C A 15: 9,113,786 (GRCm39) G376C probably damaging Het
Slc46a1 T C 11: 78,359,471 (GRCm39) S368P possibly damaging Het
St6galnac1 A G 11: 116,659,933 (GRCm39) S127P probably benign Het
Tatdn3 A G 1: 190,785,073 (GRCm39) I192T possibly damaging Het
Tmem25 C A 9: 44,707,383 (GRCm39) V239F possibly damaging Het
Tprkb A C 6: 85,909,922 (GRCm39) probably benign Het
Trappc10 A G 10: 78,032,168 (GRCm39) V1040A probably benign Het
Txnrd1 G A 10: 82,719,744 (GRCm39) probably benign Het
Uhrf1 A T 17: 56,625,089 (GRCm39) K544M probably damaging Het
Unc80 T A 1: 66,629,386 (GRCm39) H1294Q possibly damaging Het
Uspl1 T A 5: 149,146,560 (GRCm39) I437K probably damaging Het
Vmn1r232 A T 17: 21,133,999 (GRCm39) N200K possibly damaging Het
Vmn2r19 A T 6: 123,312,795 (GRCm39) I622F probably damaging Het
Znfx1 A G 2: 166,897,730 (GRCm39) F398S probably damaging Het
Other mutations in Cul9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Cul9 APN 17 46,836,635 (GRCm39) missense probably damaging 1.00
IGL00330:Cul9 APN 17 46,821,767 (GRCm39) splice site probably benign
IGL00726:Cul9 APN 17 46,839,022 (GRCm39) missense probably damaging 1.00
IGL01020:Cul9 APN 17 46,849,949 (GRCm39) missense probably damaging 1.00
IGL01358:Cul9 APN 17 46,849,240 (GRCm39) missense probably damaging 1.00
IGL01410:Cul9 APN 17 46,839,572 (GRCm39) missense probably damaging 0.99
IGL01781:Cul9 APN 17 46,850,230 (GRCm39) missense probably benign
IGL01873:Cul9 APN 17 46,813,378 (GRCm39) missense probably damaging 0.99
IGL02117:Cul9 APN 17 46,851,301 (GRCm39) missense probably benign 0.00
IGL02300:Cul9 APN 17 46,831,958 (GRCm39) splice site probably benign
IGL02426:Cul9 APN 17 46,834,184 (GRCm39) missense possibly damaging 0.95
IGL02427:Cul9 APN 17 46,813,558 (GRCm39) missense possibly damaging 0.69
IGL02496:Cul9 APN 17 46,851,302 (GRCm39) missense possibly damaging 0.72
IGL03008:Cul9 APN 17 46,813,623 (GRCm39) splice site probably benign
IGL03059:Cul9 APN 17 46,849,913 (GRCm39) missense probably damaging 0.98
IGL03302:Cul9 APN 17 46,837,566 (GRCm39) missense probably damaging 0.98
bottlenose UTSW 17 46,811,770 (GRCm39) missense possibly damaging 0.79
flipper UTSW 17 46,836,818 (GRCm39) missense probably benign 0.05
orca UTSW 17 46,836,061 (GRCm39) missense probably damaging 1.00
FR4340:Cul9 UTSW 17 46,811,779 (GRCm39) small insertion probably benign
FR4449:Cul9 UTSW 17 46,811,782 (GRCm39) small insertion probably benign
FR4737:Cul9 UTSW 17 46,811,784 (GRCm39) small insertion probably benign
FR4737:Cul9 UTSW 17 46,811,772 (GRCm39) small insertion probably benign
FR4976:Cul9 UTSW 17 46,811,779 (GRCm39) small insertion probably benign
FR4976:Cul9 UTSW 17 46,811,776 (GRCm39) small insertion probably benign
FR4976:Cul9 UTSW 17 46,811,774 (GRCm39) small insertion probably benign
FR4976:Cul9 UTSW 17 46,811,782 (GRCm39) small insertion probably benign
R0012:Cul9 UTSW 17 46,849,436 (GRCm39) missense probably benign 0.26
R0079:Cul9 UTSW 17 46,848,589 (GRCm39) nonsense probably null
R0143:Cul9 UTSW 17 46,837,336 (GRCm39) missense possibly damaging 0.65
R0390:Cul9 UTSW 17 46,839,515 (GRCm39) missense probably benign 0.34
R0401:Cul9 UTSW 17 46,852,630 (GRCm39) missense probably damaging 1.00
R0529:Cul9 UTSW 17 46,831,394 (GRCm39) splice site probably benign
R0815:Cul9 UTSW 17 46,848,748 (GRCm39) splice site probably null
R0863:Cul9 UTSW 17 46,848,748 (GRCm39) splice site probably null
R0972:Cul9 UTSW 17 46,833,101 (GRCm39) missense probably damaging 1.00
R1173:Cul9 UTSW 17 46,833,101 (GRCm39) missense probably damaging 1.00
R1216:Cul9 UTSW 17 46,833,101 (GRCm39) missense probably damaging 1.00
R1217:Cul9 UTSW 17 46,833,101 (GRCm39) missense probably damaging 1.00
R1261:Cul9 UTSW 17 46,836,708 (GRCm39) missense probably damaging 1.00
R1278:Cul9 UTSW 17 46,811,775 (GRCm39) small deletion probably benign
R1281:Cul9 UTSW 17 46,822,460 (GRCm39) missense probably damaging 1.00
R1349:Cul9 UTSW 17 46,833,101 (GRCm39) missense probably damaging 1.00
R1372:Cul9 UTSW 17 46,833,101 (GRCm39) missense probably damaging 1.00
R1403:Cul9 UTSW 17 46,833,101 (GRCm39) missense probably damaging 1.00
R1403:Cul9 UTSW 17 46,833,101 (GRCm39) missense probably damaging 1.00
R1405:Cul9 UTSW 17 46,833,101 (GRCm39) missense probably damaging 1.00
R1405:Cul9 UTSW 17 46,833,101 (GRCm39) missense probably damaging 1.00
R1467:Cul9 UTSW 17 46,836,299 (GRCm39) missense probably damaging 1.00
R1467:Cul9 UTSW 17 46,836,299 (GRCm39) missense probably damaging 1.00
R1482:Cul9 UTSW 17 46,819,473 (GRCm39) missense probably damaging 0.99
R1491:Cul9 UTSW 17 46,849,490 (GRCm39) nonsense probably null
R1618:Cul9 UTSW 17 46,836,818 (GRCm39) missense probably benign 0.05
R1641:Cul9 UTSW 17 46,854,486 (GRCm39) missense possibly damaging 0.96
R1679:Cul9 UTSW 17 46,832,082 (GRCm39) missense possibly damaging 0.90
R1771:Cul9 UTSW 17 46,848,738 (GRCm39) missense probably benign 0.41
R1803:Cul9 UTSW 17 46,814,023 (GRCm39) missense probably damaging 1.00
R2020:Cul9 UTSW 17 46,833,101 (GRCm39) missense probably damaging 1.00
R2046:Cul9 UTSW 17 46,854,659 (GRCm39) missense probably damaging 1.00
R2056:Cul9 UTSW 17 46,854,298 (GRCm39) missense probably benign
R2415:Cul9 UTSW 17 46,854,364 (GRCm39) missense probably benign
R2925:Cul9 UTSW 17 46,821,907 (GRCm39) missense probably benign 0.08
R2964:Cul9 UTSW 17 46,813,154 (GRCm39) missense probably damaging 0.96
R2965:Cul9 UTSW 17 46,813,154 (GRCm39) missense probably damaging 0.96
R3690:Cul9 UTSW 17 46,814,957 (GRCm39) splice site probably null
R3847:Cul9 UTSW 17 46,836,061 (GRCm39) missense probably damaging 1.00
R4437:Cul9 UTSW 17 46,813,085 (GRCm39) missense probably damaging 1.00
R4470:Cul9 UTSW 17 46,849,262 (GRCm39) missense probably benign 0.00
R4540:Cul9 UTSW 17 46,814,015 (GRCm39) missense probably null 0.98
R4555:Cul9 UTSW 17 46,812,755 (GRCm39) missense possibly damaging 0.82
R4604:Cul9 UTSW 17 46,841,072 (GRCm39) missense probably damaging 0.99
R4646:Cul9 UTSW 17 46,849,943 (GRCm39) nonsense probably null
R4799:Cul9 UTSW 17 46,811,770 (GRCm39) missense possibly damaging 0.79
R4822:Cul9 UTSW 17 46,840,977 (GRCm39) missense probably benign 0.01
R4964:Cul9 UTSW 17 46,849,451 (GRCm39) missense probably damaging 1.00
R4965:Cul9 UTSW 17 46,849,451 (GRCm39) missense probably damaging 1.00
R5027:Cul9 UTSW 17 46,811,708 (GRCm39) missense probably damaging 0.99
R5185:Cul9 UTSW 17 46,836,758 (GRCm39) missense possibly damaging 0.95
R5237:Cul9 UTSW 17 46,854,393 (GRCm39) missense probably benign 0.00
R5278:Cul9 UTSW 17 46,821,799 (GRCm39) missense probably damaging 1.00
R5361:Cul9 UTSW 17 46,811,775 (GRCm39) small deletion probably benign
R5455:Cul9 UTSW 17 46,821,772 (GRCm39) splice site probably null
R5592:Cul9 UTSW 17 46,831,517 (GRCm39) missense probably benign 0.00
R5597:Cul9 UTSW 17 46,813,591 (GRCm39) missense possibly damaging 0.56
R5613:Cul9 UTSW 17 46,814,770 (GRCm39) missense probably damaging 1.00
R6122:Cul9 UTSW 17 46,832,854 (GRCm39) missense possibly damaging 0.72
R6135:Cul9 UTSW 17 46,832,379 (GRCm39) missense probably benign
R6352:Cul9 UTSW 17 46,822,241 (GRCm39) missense probably benign 0.00
R6376:Cul9 UTSW 17 46,819,489 (GRCm39) missense probably damaging 1.00
R6868:Cul9 UTSW 17 46,833,109 (GRCm39) missense possibly damaging 0.73
R6898:Cul9 UTSW 17 46,821,952 (GRCm39) missense possibly damaging 0.87
R7090:Cul9 UTSW 17 46,811,765 (GRCm39) missense probably damaging 0.96
R7193:Cul9 UTSW 17 46,849,423 (GRCm39) missense probably damaging 0.98
R7221:Cul9 UTSW 17 46,839,491 (GRCm39) missense probably damaging 0.99
R7291:Cul9 UTSW 17 46,851,359 (GRCm39) missense probably benign 0.00
R7320:Cul9 UTSW 17 46,821,835 (GRCm39) missense possibly damaging 0.80
R7348:Cul9 UTSW 17 46,821,919 (GRCm39) missense possibly damaging 0.89
R7463:Cul9 UTSW 17 46,831,402 (GRCm39) splice site probably null
R7480:Cul9 UTSW 17 46,848,738 (GRCm39) missense probably benign 0.41
R7573:Cul9 UTSW 17 46,830,836 (GRCm39) missense probably benign
R7582:Cul9 UTSW 17 46,821,905 (GRCm39) missense probably damaging 1.00
R7605:Cul9 UTSW 17 46,852,658 (GRCm39) missense probably damaging 0.99
R7684:Cul9 UTSW 17 46,820,815 (GRCm39) missense probably damaging 1.00
R7830:Cul9 UTSW 17 46,851,237 (GRCm39) missense probably benign 0.37
R7834:Cul9 UTSW 17 46,836,630 (GRCm39) splice site probably null
R8131:Cul9 UTSW 17 46,822,168 (GRCm39) missense probably damaging 1.00
R8192:Cul9 UTSW 17 46,849,273 (GRCm39) missense probably benign 0.01
R8231:Cul9 UTSW 17 46,831,427 (GRCm39) missense probably damaging 0.99
R8248:Cul9 UTSW 17 46,840,940 (GRCm39) missense probably damaging 0.99
R8504:Cul9 UTSW 17 46,814,506 (GRCm39) missense probably damaging 1.00
R8550:Cul9 UTSW 17 46,830,772 (GRCm39) missense probably damaging 1.00
R8716:Cul9 UTSW 17 46,838,840 (GRCm39) missense probably benign 0.28
R8769:Cul9 UTSW 17 46,832,828 (GRCm39) missense possibly damaging 0.85
R8893:Cul9 UTSW 17 46,811,775 (GRCm39) small deletion probably benign
R8904:Cul9 UTSW 17 46,831,427 (GRCm39) missense probably damaging 0.99
R8936:Cul9 UTSW 17 46,839,528 (GRCm39) missense possibly damaging 0.82
R8972:Cul9 UTSW 17 46,854,177 (GRCm39) missense probably damaging 1.00
R9003:Cul9 UTSW 17 46,836,001 (GRCm39) missense possibly damaging 0.78
R9012:Cul9 UTSW 17 46,854,447 (GRCm39) missense probably benign
R9056:Cul9 UTSW 17 46,854,696 (GRCm39) missense probably damaging 0.99
R9071:Cul9 UTSW 17 46,837,379 (GRCm39) missense probably benign
R9162:Cul9 UTSW 17 46,837,529 (GRCm39) missense probably benign 0.32
R9476:Cul9 UTSW 17 46,821,833 (GRCm39) missense probably damaging 1.00
R9526:Cul9 UTSW 17 46,841,026 (GRCm39) missense probably benign 0.41
R9563:Cul9 UTSW 17 46,820,897 (GRCm39) missense probably benign 0.01
R9568:Cul9 UTSW 17 46,831,044 (GRCm39) missense possibly damaging 0.56
R9610:Cul9 UTSW 17 46,830,823 (GRCm39) missense possibly damaging 0.96
R9611:Cul9 UTSW 17 46,830,823 (GRCm39) missense possibly damaging 0.96
R9705:Cul9 UTSW 17 46,854,226 (GRCm39) missense probably damaging 1.00
R9765:Cul9 UTSW 17 46,850,224 (GRCm39) missense probably benign 0.18
RF011:Cul9 UTSW 17 46,811,774 (GRCm39) small insertion probably benign
RF016:Cul9 UTSW 17 46,811,789 (GRCm39) nonsense probably null
RF026:Cul9 UTSW 17 46,811,795 (GRCm39) nonsense probably null
RF027:Cul9 UTSW 17 46,811,774 (GRCm39) small insertion probably benign
RF030:Cul9 UTSW 17 46,811,795 (GRCm39) small insertion probably benign
RF033:Cul9 UTSW 17 46,811,780 (GRCm39) small insertion probably benign
RF039:Cul9 UTSW 17 46,811,780 (GRCm39) small insertion probably benign
RF041:Cul9 UTSW 17 46,811,780 (GRCm39) nonsense probably null
RF042:Cul9 UTSW 17 46,851,541 (GRCm39) frame shift probably null
RF057:Cul9 UTSW 17 46,811,789 (GRCm39) nonsense probably null
Z1176:Cul9 UTSW 17 46,831,511 (GRCm39) nonsense probably null
Z1176:Cul9 UTSW 17 46,831,502 (GRCm39) nonsense probably null
Z1177:Cul9 UTSW 17 46,848,723 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- TCAGGATGATCCAGCAGTCG -3'
(R):5'- GACTGATCTACAAAATGCCTCTCG -3'

Sequencing Primer
(F):5'- ATGATCCAGCAGTCGGGTCATG -3'
(R):5'- GATCTACAAAATGCCTCTCGTTTTC -3'
Posted On 2014-09-18