Incidental Mutation 'IGL02333:Klhl2'
ID 288778
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl2
Ensembl Gene ENSMUSG00000031605
Gene Name kelch-like 2, Mayven
Synonyms Mav, 8530402H02Rik, ABP-KELCH, 6030411N21Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02333
Quality Score
Status
Chromosome 8
Chromosomal Location 65192709-65302669 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 65212784 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 252 (R252W)
Ref Sequence ENSEMBL: ENSMUSP00000147262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034017] [ENSMUST00000210166]
AlphaFold Q8JZP3
Predicted Effect probably damaging
Transcript: ENSMUST00000034017
AA Change: R252W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034017
Gene: ENSMUSG00000031605
AA Change: R252W

DomainStartEndE-ValueType
BTB 56 153 9.65e-32 SMART
BACK 158 260 1.28e-40 SMART
Kelch 308 353 1.09e-9 SMART
Kelch 354 400 1.28e-15 SMART
Kelch 401 447 1.58e-15 SMART
Kelch 448 496 3.15e-15 SMART
Kelch 497 543 3.25e-17 SMART
Kelch 544 591 1.43e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209458
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209919
Predicted Effect probably damaging
Transcript: ENSMUST00000210166
AA Change: R252W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace G A 11: 105,862,273 (GRCm39) V276I probably benign Het
Acss2 T A 2: 155,397,804 (GRCm39) W289R probably damaging Het
Alpk2 A G 18: 65,482,551 (GRCm39) S19P probably damaging Het
Ano3 T C 2: 110,527,544 (GRCm39) probably benign Het
Atxn1 G A 13: 45,720,680 (GRCm39) S405F probably damaging Het
Atxn2 A G 5: 121,919,450 (GRCm39) Y386C probably damaging Het
Bach2 T A 4: 32,575,334 (GRCm39) L643* probably null Het
Ccl22 T A 8: 95,476,507 (GRCm39) L91Q probably damaging Het
Cdc40 A G 10: 40,743,855 (GRCm39) Y81H probably benign Het
Col5a3 C A 9: 20,710,602 (GRCm39) R549M unknown Het
Eif3e A T 15: 43,129,533 (GRCm39) N198K probably benign Het
Emp2 A G 16: 10,102,375 (GRCm39) Y146H probably damaging Het
Impg1 G A 9: 80,322,808 (GRCm39) L66F possibly damaging Het
Itsn1 A G 16: 91,617,564 (GRCm39) probably benign Het
Khdrbs3 T C 15: 68,921,243 (GRCm39) Y187H probably damaging Het
Klhdc7a T A 4: 139,694,467 (GRCm39) H160L probably benign Het
Krba1 C T 6: 48,390,021 (GRCm39) T595I probably damaging Het
Myo9b G T 8: 71,811,637 (GRCm39) D1887Y possibly damaging Het
Olfm4 C T 14: 80,259,210 (GRCm39) T453I probably damaging Het
Sin3a A G 9: 57,014,843 (GRCm39) N688S possibly damaging Het
Slc47a1 A G 11: 61,260,950 (GRCm39) V150A probably damaging Het
Sptbn4 A G 7: 27,063,724 (GRCm39) L2234P probably damaging Het
Trpm4 C T 7: 44,971,539 (GRCm39) V166M possibly damaging Het
Usp54 A T 14: 20,639,463 (GRCm39) F156L probably damaging Het
Vmn2r32 A T 7: 7,467,143 (GRCm39) F795Y probably damaging Het
Other mutations in Klhl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Klhl2 APN 8 65,202,120 (GRCm39) missense probably benign
IGL01111:Klhl2 APN 8 65,202,081 (GRCm39) missense probably damaging 1.00
IGL01620:Klhl2 APN 8 65,232,772 (GRCm39) missense probably damaging 1.00
IGL01878:Klhl2 APN 8 65,212,858 (GRCm39) missense probably damaging 0.97
IGL02664:Klhl2 APN 8 65,205,801 (GRCm39) nonsense probably null
IGL02828:Klhl2 APN 8 65,232,791 (GRCm39) missense probably damaging 1.00
IGL03162:Klhl2 APN 8 65,207,426 (GRCm39) missense probably damaging 0.99
R0315:Klhl2 UTSW 8 65,196,053 (GRCm39) nonsense probably null
R0482:Klhl2 UTSW 8 65,211,164 (GRCm39) missense probably benign 0.30
R1803:Klhl2 UTSW 8 65,212,831 (GRCm39) missense probably damaging 0.99
R1853:Klhl2 UTSW 8 65,275,658 (GRCm39) missense probably benign 0.03
R2155:Klhl2 UTSW 8 65,202,804 (GRCm39) missense probably benign 0.38
R2965:Klhl2 UTSW 8 65,205,794 (GRCm39) missense probably benign 0.01
R2979:Klhl2 UTSW 8 65,275,730 (GRCm39) missense probably damaging 1.00
R3980:Klhl2 UTSW 8 65,196,115 (GRCm39) missense probably damaging 1.00
R3980:Klhl2 UTSW 8 65,196,109 (GRCm39) missense probably damaging 1.00
R4597:Klhl2 UTSW 8 65,207,421 (GRCm39) missense probably damaging 1.00
R4627:Klhl2 UTSW 8 65,211,225 (GRCm39) nonsense probably null
R4825:Klhl2 UTSW 8 65,205,847 (GRCm39) missense probably damaging 1.00
R4854:Klhl2 UTSW 8 65,287,111 (GRCm39) missense possibly damaging 0.91
R5448:Klhl2 UTSW 8 65,275,642 (GRCm39) critical splice donor site probably null
R5945:Klhl2 UTSW 8 65,202,762 (GRCm39) missense probably benign
R5961:Klhl2 UTSW 8 65,202,818 (GRCm39) missense probably damaging 1.00
R6218:Klhl2 UTSW 8 65,205,801 (GRCm39) nonsense probably null
R6290:Klhl2 UTSW 8 65,264,351 (GRCm39) missense possibly damaging 0.75
R6334:Klhl2 UTSW 8 65,212,842 (GRCm39) missense probably benign 0.00
R6595:Klhl2 UTSW 8 65,196,077 (GRCm39) nonsense probably null
R6847:Klhl2 UTSW 8 65,212,816 (GRCm39) missense probably damaging 1.00
R6863:Klhl2 UTSW 8 65,275,743 (GRCm39) missense probably benign
R7086:Klhl2 UTSW 8 65,275,664 (GRCm39) missense probably damaging 1.00
R7493:Klhl2 UTSW 8 65,202,809 (GRCm39) missense probably damaging 1.00
R8061:Klhl2 UTSW 8 65,211,257 (GRCm39) missense probably damaging 1.00
R8243:Klhl2 UTSW 8 65,202,084 (GRCm39) missense probably benign
R9391:Klhl2 UTSW 8 65,275,684 (GRCm39) missense probably damaging 1.00
R9420:Klhl2 UTSW 8 65,205,870 (GRCm39) nonsense probably null
R9469:Klhl2 UTSW 8 65,196,069 (GRCm39) missense probably benign 0.05
R9510:Klhl2 UTSW 8 65,202,113 (GRCm39) missense probably benign
R9602:Klhl2 UTSW 8 65,205,696 (GRCm39) missense probably damaging 1.00
Z1176:Klhl2 UTSW 8 65,211,160 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16