Incidental Mutation 'IGL03162:Klhl2'
ID 411469
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 # IGL03162
Quality Score
Status
Chromosome 8
Chromosomal Location 65192709-65302669 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65207426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 311 (V311A)
Ref Sequence ENSEMBL: ENSMUSP00000034017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034017] [ENSMUST00000210166]
AlphaFold Q8JZP3
Predicted Effect probably damaging
Transcript: ENSMUST00000034017
AA Change: V311A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034017
Gene: ENSMUSG00000031605
AA Change: V311A

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: ENSMUST00000209919
Predicted Effect probably damaging
Transcript: ENSMUST00000210166
AA Change: V311A

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T A 15: 60,791,581 (GRCm39) D92V probably damaging Het
Acsl3 T C 1: 78,676,887 (GRCm39) probably null Het
Adam5 T C 8: 25,271,620 (GRCm39) T596A probably benign Het
Adh6a T A 3: 138,034,880 (GRCm39) Y336* probably null Het
Ak3 A T 19: 29,000,236 (GRCm39) V225D possibly damaging Het
Aldh1a7 T A 19: 20,685,645 (GRCm39) I302F probably benign Het
Amdhd1 T C 10: 93,367,337 (GRCm39) probably null Het
Arhgef18 G A 8: 3,491,301 (GRCm39) probably null Het
Caap1 A T 4: 94,389,261 (GRCm39) probably benign Het
Cdhr4 G A 9: 107,875,210 (GRCm39) G70D probably damaging Het
Celsr3 T C 9: 108,719,757 (GRCm39) F2445S probably damaging Het
Cenpc1 A G 5: 86,185,764 (GRCm39) V249A possibly damaging Het
Clca3a2 C A 3: 144,512,177 (GRCm39) V80F probably damaging Het
Col6a1 T A 10: 76,553,885 (GRCm39) probably benign Het
Commd10 T A 18: 47,220,117 (GRCm39) L198Q probably damaging Het
Cyp2d40 A G 15: 82,644,243 (GRCm39) L294P unknown Het
E2f6 T A 12: 16,868,909 (GRCm39) D77E probably benign Het
Elf5 T A 2: 103,260,751 (GRCm39) H38Q possibly damaging Het
Entrep1 T G 19: 23,965,824 (GRCm39) H225P probably damaging Het
Fcrl6 A G 1: 172,425,820 (GRCm39) V227A probably damaging Het
Fhip2b G T 14: 70,824,994 (GRCm39) D447E probably damaging Het
Gabarapl2 T A 8: 112,669,168 (GRCm39) V42D probably benign Het
Gm3543 A G 14: 41,802,022 (GRCm39) I154T possibly damaging Het
Gpr150 T A 13: 76,204,950 (GRCm39) probably benign Het
Gstp3 A G 19: 4,109,255 (GRCm39) probably benign Het
Gzmm C T 10: 79,528,790 (GRCm39) T64I probably damaging Het
Hs3st1 T A 5: 39,771,792 (GRCm39) K284* probably null Het
Ints7 A G 1: 191,353,524 (GRCm39) probably benign Het
Itih2 A T 2: 10,131,055 (GRCm39) I94N probably damaging Het
Kif26b A G 1: 178,744,497 (GRCm39) N1531S probably benign Het
Kif27 T C 13: 58,459,021 (GRCm39) S937G probably benign Het
Klrb1b T A 6: 128,795,892 (GRCm39) Q109L probably null Het
Lrig2 A G 3: 104,371,613 (GRCm39) F697L probably damaging Het
Lrrc66 T C 5: 73,764,725 (GRCm39) R773G probably benign Het
Mrgpra2b C T 7: 47,113,815 (GRCm39) V306I probably benign Het
Nipbl T C 15: 8,368,463 (GRCm39) H1127R probably benign Het
Nr3c2 A T 8: 77,944,213 (GRCm39) D816V probably damaging Het
Ntmt2 T A 1: 163,530,783 (GRCm39) I219L probably damaging Het
Or10a3 T C 7: 108,480,811 (GRCm39) M1V probably null Het
Or5w19 A C 2: 87,698,484 (GRCm39) M50L probably benign Het
Pdxdc1 A G 16: 13,675,281 (GRCm39) L350P probably damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Pnpla7 T C 2: 24,905,301 (GRCm39) probably benign Het
Ppan T G 9: 20,802,608 (GRCm39) L283R probably damaging Het
Rbfox3 A C 11: 118,387,257 (GRCm39) S286A probably benign Het
Rbl2 A G 8: 91,812,330 (GRCm39) T273A probably benign Het
Recql4 G T 15: 76,590,296 (GRCm39) probably null Het
Slc22a26 T A 19: 7,779,466 (GRCm39) M117L probably benign Het
Sult2a2 T A 7: 13,468,822 (GRCm39) I96K probably damaging Het
Tcf15 G A 2: 151,990,626 (GRCm39) R175H probably benign Het
Uggt1 A T 1: 36,247,037 (GRCm39) V320D probably damaging Het
Vmn2r102 A G 17: 19,914,286 (GRCm39) N617S probably damaging Het
Vpreb3 A G 10: 75,785,133 (GRCm39) Y77C probably damaging Het
Zbbx A T 3: 74,978,930 (GRCm39) probably benign Het
Zfand6 A T 7: 84,283,185 (GRCm39) S57R probably benign Het
Zmym2 A G 14: 57,151,500 (GRCm39) I462V probably benign 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
IGL02333:Klhl2 APN 8 65,212,784 (GRCm39) missense probably damaging 1.00
IGL02664:Klhl2 APN 8 65,205,801 (GRCm39) nonsense probably null
IGL02828:Klhl2 APN 8 65,232,791 (GRCm39) missense probably damaging 1.00
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 2016-08-02