Incidental Mutation 'R2116:Klhl3'
ID 233189
Institutional Source Beutler Lab
Gene Symbol Klhl3
Ensembl Gene ENSMUSG00000014164
Gene Name kelch-like 3
Synonyms EG627648, 7530408C15Rik
MMRRC Submission 040120-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2116 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 58148042-58261406 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58166805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 342 (V342E)
Ref Sequence ENSEMBL: ENSMUSP00000123701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091583] [ENSMUST00000160860]
AlphaFold E0CZ16
Predicted Effect probably damaging
Transcript: ENSMUST00000091583
AA Change: V395E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000089173
Gene: ENSMUSG00000014164
AA Change: V395E

DomainStartEndE-ValueType
BTB 103 200 9.36e-30 SMART
BACK 205 307 7.49e-42 SMART
Kelch 355 400 3.31e-9 SMART
Kelch 401 447 3.82e-14 SMART
Kelch 448 494 1.49e-16 SMART
Kelch 495 543 8.58e-17 SMART
Kelch 544 590 4.93e-17 SMART
Kelch 591 638 4.16e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104769
Predicted Effect probably damaging
Transcript: ENSMUST00000160860
AA Change: V342E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123701
Gene: ENSMUSG00000014164
AA Change: V342E

DomainStartEndE-ValueType
BTB 64 161 9.36e-30 SMART
BACK 166 268 7.49e-42 SMART
Kelch 316 361 3.31e-9 SMART
Kelch 362 408 3.82e-14 SMART
Kelch 409 455 1.49e-16 SMART
Kelch 456 504 8.58e-17 SMART
Kelch 505 551 4.93e-17 SMART
Kelch 552 599 4.16e-15 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice carrying a point mutation display salt-sensitive hypertension, hyperkalemia and metabolic acidosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 A G 15: 94,253,243 (GRCm39) C377R probably damaging Het
Adgrv1 T C 13: 81,677,132 (GRCm39) K1180E probably benign Het
Ankle1 A G 8: 71,860,562 (GRCm39) T340A probably benign Het
Armc2 A T 10: 41,839,663 (GRCm39) L434Q probably damaging Het
Ash1l C T 3: 88,890,571 (GRCm39) L817F probably benign Het
Atm C T 9: 53,412,269 (GRCm39) E960K probably benign Het
Bend5 G T 4: 111,272,436 (GRCm39) R22L probably benign Het
Cacng6 C T 7: 3,479,020 (GRCm39) T133I probably damaging Het
Cep120 G A 18: 53,873,208 (GRCm39) T41I probably damaging Het
Ciz1 T C 2: 32,257,477 (GRCm39) L174P probably damaging Het
Cmah G A 13: 24,612,880 (GRCm39) D26N probably benign Het
Cnot1 A C 8: 96,452,781 (GRCm39) D2098E probably damaging Het
Cnot10 A C 9: 114,455,504 (GRCm39) S207R probably damaging Het
Col14a1 A G 15: 55,271,160 (GRCm39) T638A unknown Het
Coro1a T C 7: 126,301,194 (GRCm39) E102G probably damaging Het
Ddx27 A C 2: 166,869,684 (GRCm39) D373A probably benign Het
Defb38 A T 8: 19,073,483 (GRCm39) Y63* probably null Het
Dhx37 A G 5: 125,498,166 (GRCm39) V681A probably damaging Het
Dmxl1 T A 18: 50,011,884 (GRCm39) L1347H probably damaging Het
Dnmt3l C A 10: 77,899,130 (GRCm39) L110I probably damaging Het
Gcn1 A T 5: 115,736,884 (GRCm39) M1276L probably benign Het
Gfus A G 15: 75,797,991 (GRCm39) F223S probably damaging Het
Gm10277 TC T 11: 77,676,828 (GRCm39) probably null Het
Gm12790 G A 4: 101,824,848 (GRCm39) T140I possibly damaging Het
Golga3 A T 5: 110,335,261 (GRCm39) M192L probably damaging Het
H2-T22 A T 17: 36,349,949 (GRCm39) probably null Het
Hectd2 C A 19: 36,591,824 (GRCm39) T675K probably damaging Het
Hinfp T C 9: 44,210,912 (GRCm39) N116S probably damaging Het
Hoatz A G 9: 51,012,384 (GRCm39) S79P possibly damaging Het
Hs6st3 T A 14: 120,106,699 (GRCm39) L369Q probably damaging Het
Ift74 A G 4: 94,515,496 (GRCm39) T138A probably benign Het
Ipo7 T A 7: 109,650,325 (GRCm39) Y792N probably damaging Het
Jak1 A T 4: 101,036,872 (GRCm39) I256N probably damaging Het
Kcnd2 T A 6: 21,216,431 (GRCm39) L45Q probably damaging Het
Krt28 A C 11: 99,255,943 (GRCm39) S439A probably benign Het
L3mbtl1 T A 2: 162,801,990 (GRCm39) probably null Het
Lrch1 G A 14: 75,022,971 (GRCm39) P634L probably damaging Het
Lrp1 C T 10: 127,412,362 (GRCm39) W1314* probably null Het
Lrwd1 T A 5: 136,159,332 (GRCm39) Y431F probably damaging Het
Lyst A G 13: 13,810,286 (GRCm39) E652G probably damaging Het
Mageb3 A G 2: 121,785,033 (GRCm39) V223A probably damaging Het
Map1b G T 13: 99,567,152 (GRCm39) S1856R unknown Het
Mecom T A 3: 30,019,607 (GRCm39) Q759L probably damaging Het
Mfsd6 T A 1: 52,700,134 (GRCm39) R671S probably benign Het
Mllt10 A G 2: 18,167,380 (GRCm39) N435S probably benign Het
Mta2 T C 19: 8,920,880 (GRCm39) I27T probably damaging Het
Ndufab1 A G 7: 121,700,987 (GRCm39) L20P probably benign Het
Nfatc2ip T A 7: 125,984,280 (GRCm39) Y371F probably damaging Het
Nhlrc1 A C 13: 47,167,661 (GRCm39) S199A probably benign Het
Nipa1 G T 7: 55,635,273 (GRCm39) N113K possibly damaging Het
Nlgn1 T A 3: 26,187,414 (GRCm39) N157I probably damaging Het
Nlrp1a T A 11: 71,005,326 (GRCm39) K630* probably null Het
Nmi T C 2: 51,838,719 (GRCm39) T272A probably benign Het
Nr1i3 T A 1: 171,046,163 (GRCm39) L181Q probably damaging Het
Nrxn1 A T 17: 91,011,705 (GRCm39) I308K probably damaging Het
Nup50l A T 6: 96,141,841 (GRCm39) V401E probably damaging Het
Or14a256 T C 7: 86,265,286 (GRCm39) D189G probably benign Het
Or52z15 T C 7: 103,332,519 (GRCm39) I188T probably damaging Het
Or5al7 A T 2: 85,993,073 (GRCm39) Y73* probably null Het
Or8g50 T A 9: 39,648,600 (GRCm39) M163K probably damaging Het
Osgin2 G A 4: 16,008,648 (GRCm39) T51M probably damaging Het
Pkd1l2 T A 8: 117,757,461 (GRCm39) T1526S possibly damaging Het
Pkhd1l1 G T 15: 44,432,878 (GRCm39) A3378S probably damaging Het
Plg A T 17: 12,603,364 (GRCm39) D90V probably damaging Het
Plppr3 A T 10: 79,701,572 (GRCm39) D423E probably benign Het
Prpf8 T C 11: 75,378,547 (GRCm39) V66A possibly damaging Het
Psg19 A T 7: 18,528,180 (GRCm39) Y188N probably damaging Het
Ptgs1 C A 2: 36,127,708 (GRCm39) S89* probably null Het
Ptx3 T A 3: 66,132,187 (GRCm39) I236N probably damaging Het
Pygm A G 19: 6,436,438 (GRCm39) N100S probably damaging Het
Reps1 A G 10: 18,000,668 (GRCm39) E760G probably damaging Het
Rgs7 T A 1: 174,918,639 (GRCm39) N235I probably damaging Het
Rgsl1 T A 1: 153,693,295 (GRCm39) M629L probably benign Het
Rrh T C 3: 129,604,336 (GRCm39) I288M probably damaging Het
Sctr A T 1: 119,959,312 (GRCm39) D70V probably damaging Het
Sec11c A T 18: 65,933,720 (GRCm39) T9S probably benign Het
Spty2d1 C T 7: 46,645,933 (GRCm39) G570D probably damaging Het
Stx1b T C 7: 127,410,077 (GRCm39) E153G probably damaging Het
Synm G A 7: 67,383,343 (GRCm39) R1440W probably benign Het
Tcof1 T C 18: 60,965,857 (GRCm39) E415G possibly damaging Het
Tgfb1i1 G A 7: 127,851,977 (GRCm39) R353H probably damaging Het
Thbs3 T C 3: 89,126,699 (GRCm39) F271S probably damaging Het
Tlr5 T C 1: 182,803,194 (GRCm39) W833R probably damaging Het
Tmem132b A G 5: 125,699,615 (GRCm39) E92G probably damaging Het
Tmem221 T C 8: 72,010,472 (GRCm39) Y133C probably damaging Het
Tmem229b-ps A G 10: 53,351,552 (GRCm39) noncoding transcript Het
Tnxb T C 17: 34,891,201 (GRCm39) C515R probably damaging Het
Trp53rka T A 2: 165,333,415 (GRCm39) N158I probably damaging Het
Usp20 T A 2: 30,906,317 (GRCm39) C562S probably damaging Het
Usp31 C T 7: 121,247,919 (GRCm39) V1175M probably benign Het
Veph1 G T 3: 65,964,610 (GRCm39) N806K probably benign Het
Vmn1r223 G T 13: 23,433,832 (GRCm39) C142F probably damaging Het
Vmn2r80 A T 10: 79,030,558 (GRCm39) S795C probably benign Het
Wdr41 A G 13: 95,151,537 (GRCm39) probably null Het
Zfp617 A T 8: 72,686,009 (GRCm39) H113L probably benign Het
Zfp715 T A 7: 42,947,370 (GRCm39) R863S possibly damaging Het
Other mutations in Klhl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01790:Klhl3 APN 13 58,157,236 (GRCm39) critical splice acceptor site probably null
IGL01984:Klhl3 APN 13 58,159,057 (GRCm39) splice site probably benign
IGL02022:Klhl3 APN 13 58,198,878 (GRCm39) missense possibly damaging 0.95
IGL02543:Klhl3 APN 13 58,166,685 (GRCm39) missense probably damaging 1.00
bearded_dragon UTSW 13 58,158,966 (GRCm39) missense probably benign 0.00
R0975:Klhl3 UTSW 13 58,161,677 (GRCm39) missense possibly damaging 0.81
R1386:Klhl3 UTSW 13 58,178,247 (GRCm39) missense probably damaging 0.99
R1588:Klhl3 UTSW 13 58,161,712 (GRCm39) missense probably damaging 1.00
R1791:Klhl3 UTSW 13 58,181,044 (GRCm39) missense possibly damaging 0.87
R1894:Klhl3 UTSW 13 58,157,189 (GRCm39) missense probably damaging 1.00
R1953:Klhl3 UTSW 13 58,159,022 (GRCm39) missense probably damaging 1.00
R3114:Klhl3 UTSW 13 58,198,841 (GRCm39) critical splice donor site probably null
R4082:Klhl3 UTSW 13 58,166,611 (GRCm39) missense probably null 1.00
R4717:Klhl3 UTSW 13 58,178,330 (GRCm39) missense probably damaging 1.00
R4857:Klhl3 UTSW 13 58,166,620 (GRCm39) missense probably damaging 1.00
R4934:Klhl3 UTSW 13 58,250,231 (GRCm39) nonsense probably null
R5112:Klhl3 UTSW 13 58,166,703 (GRCm39) missense probably damaging 1.00
R5114:Klhl3 UTSW 13 58,166,781 (GRCm39) missense probably benign 0.24
R5547:Klhl3 UTSW 13 58,250,243 (GRCm39) splice site probably null
R5776:Klhl3 UTSW 13 58,152,998 (GRCm39) missense probably benign 0.00
R6236:Klhl3 UTSW 13 58,232,876 (GRCm39) missense probably damaging 1.00
R6268:Klhl3 UTSW 13 58,161,656 (GRCm39) missense probably damaging 1.00
R6457:Klhl3 UTSW 13 58,248,192 (GRCm39) missense probably benign 0.01
R6559:Klhl3 UTSW 13 58,164,290 (GRCm39) missense probably damaging 1.00
R6580:Klhl3 UTSW 13 58,166,701 (GRCm39) missense possibly damaging 0.75
R6601:Klhl3 UTSW 13 58,242,930 (GRCm39) missense probably damaging 0.96
R6669:Klhl3 UTSW 13 58,158,966 (GRCm39) missense probably benign 0.00
R6904:Klhl3 UTSW 13 58,178,259 (GRCm39) missense probably damaging 1.00
R7652:Klhl3 UTSW 13 58,261,146 (GRCm39) start gained probably benign
R7979:Klhl3 UTSW 13 58,211,611 (GRCm39) missense probably benign 0.39
R8112:Klhl3 UTSW 13 58,161,677 (GRCm39) missense possibly damaging 0.81
R8114:Klhl3 UTSW 13 58,161,677 (GRCm39) missense possibly damaging 0.81
R8270:Klhl3 UTSW 13 58,260,968 (GRCm39) missense
R8409:Klhl3 UTSW 13 58,167,242 (GRCm39) missense probably damaging 1.00
R8742:Klhl3 UTSW 13 58,159,021 (GRCm39) missense probably damaging 1.00
R9112:Klhl3 UTSW 13 58,248,212 (GRCm39) missense unknown
R9396:Klhl3 UTSW 13 58,161,662 (GRCm39) missense probably damaging 1.00
R9474:Klhl3 UTSW 13 58,167,273 (GRCm39) missense probably damaging 1.00
R9568:Klhl3 UTSW 13 58,157,126 (GRCm39) missense probably damaging 0.99
R9636:Klhl3 UTSW 13 58,198,863 (GRCm39) missense probably damaging 1.00
Z1177:Klhl3 UTSW 13 58,157,223 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AAGGAATGGCAACGTGGTCC -3'
(R):5'- TTGCACAAGTCAGGTGATATTAGAC -3'

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