Incidental Mutation 'R7086:Klhl2'
ID 549900
Institutional Source Beutler Lab
Gene Symbol Klhl2
Ensembl Gene ENSMUSG00000031605
Gene Name kelch-like 2, Mayven
Synonyms Mav, 8530402H02Rik, ABP-KELCH, 6030411N21Rik
MMRRC Submission 045180-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7086 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 65192709-65302669 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65275664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 80 (Y80H)
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: Y80H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034017
Gene: ENSMUSG00000031605
AA Change: Y80H

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 probably damaging
Transcript: ENSMUST00000210166
AA Change: Y80H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (60/61)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam30 A G 3: 98,068,635 (GRCm39) H28R probably damaging Het
Adgre4 T C 17: 56,127,649 (GRCm39) I563T probably benign Het
Ankub1 A T 3: 57,597,746 (GRCm39) C75S probably damaging Het
Antxrl G A 14: 33,787,873 (GRCm39) V299I probably benign Het
Arfgef2 T A 2: 166,718,536 (GRCm39) C1442S probably damaging Het
Atp13a3 T C 16: 30,169,881 (GRCm39) D399G possibly damaging Het
Cacna2d1 T A 5: 16,554,414 (GRCm39) Y666N probably damaging Het
Cenpo C T 12: 4,265,307 (GRCm39) E238K probably benign Het
Cfap91 A T 16: 38,127,219 (GRCm39) F512L possibly damaging Het
Chrng C A 1: 87,138,735 (GRCm39) R455S probably benign Het
Cimap1a A G 7: 140,429,402 (GRCm39) H151R probably benign Het
Cluh T A 11: 74,558,166 (GRCm39) H1155Q possibly damaging Het
Col16a1 G A 4: 129,946,773 (GRCm39) probably null Het
Cpne5 G A 17: 29,378,051 (GRCm39) P576L unknown Het
Crocc C A 4: 140,774,368 (GRCm39) V144L possibly damaging Het
Cubn A G 2: 13,324,669 (GRCm39) V2781A probably damaging Het
Cyp8b1 A G 9: 121,744,355 (GRCm39) F326L probably benign Het
Dclk1 G A 3: 55,395,333 (GRCm39) probably null Het
Dennd2b A G 7: 109,124,781 (GRCm39) I1083T probably damaging Het
Dnah7c A G 1: 46,789,285 (GRCm39) R3303G probably benign Het
Dnhd1 G T 7: 105,357,739 (GRCm39) R3191S probably benign Het
Fgfbp3 T G 19: 36,896,103 (GRCm39) S172R possibly damaging Het
Gpr158 G A 2: 21,831,386 (GRCm39) V829I probably benign Het
Gtse1 A G 15: 85,759,750 (GRCm39) D647G probably damaging Het
H2-Q7 T A 17: 35,658,461 (GRCm39) V33E probably damaging Het
Hydin A G 8: 111,326,877 (GRCm39) T4739A possibly damaging Het
Kcnip1 G T 11: 33,584,629 (GRCm39) P175T probably damaging Het
Klhl10 T C 11: 100,347,768 (GRCm39) V608A probably benign Het
Lnx2 A T 5: 146,956,988 (GRCm39) probably null Het
Lst1 G A 17: 35,404,262 (GRCm39) H59Y probably damaging Het
Mphosph8 G C 14: 56,905,980 (GRCm39) V58L possibly damaging Het
Mpnd C A 17: 56,316,457 (GRCm39) S45R possibly damaging Het
Myh8 A G 11: 67,183,453 (GRCm39) probably null Het
Or12j4 A G 7: 140,046,341 (GRCm39) T76A possibly damaging Het
Or4c52 A G 2: 89,845,594 (GRCm39) I107V probably benign Het
Phox2a A G 7: 101,467,718 (GRCm39) Y5C probably damaging Het
Pkdrej A G 15: 85,704,317 (GRCm39) S540P probably damaging Het
Plcb4 A G 2: 135,849,767 (GRCm39) M1133V probably benign Het
Plxnc1 T C 10: 94,667,297 (GRCm39) M1126V probably benign Het
Ppm1l A G 3: 69,225,186 (GRCm39) Y96C probably damaging Het
Prpsap1 T C 11: 116,368,109 (GRCm39) T234A probably benign Het
R3hcc1l T C 19: 42,570,409 (GRCm39) V668A probably damaging Het
Rapgef2 A G 3: 78,993,353 (GRCm39) S712P probably benign Het
Rcc2 T C 4: 140,435,280 (GRCm39) C100R probably benign Het
Recql4 C A 15: 76,589,753 (GRCm39) G764V unknown Het
Rlbp1 A G 7: 79,029,813 (GRCm39) I140T possibly damaging Het
Samsn1 T C 16: 75,667,794 (GRCm39) T261A probably benign Het
Sgtb T C 13: 104,254,924 (GRCm39) S65P possibly damaging Het
Spag9 T C 11: 93,988,690 (GRCm39) V920A probably benign Het
Spata31 T A 13: 65,070,043 (GRCm39) S730R probably benign Het
Spta1 C T 1: 174,027,050 (GRCm39) A841V probably damaging Het
Tnfaip1 T C 11: 78,416,265 (GRCm39) S273G probably benign Het
Vezf1 T C 11: 87,969,364 (GRCm39) V371A probably benign Het
Vmn1r67 G A 7: 10,181,044 (GRCm39) V103I possibly damaging Het
Vmn2r87 G T 10: 130,333,178 (GRCm39) T24K probably benign Het
Wdr43 G A 17: 71,923,434 (GRCm39) G60D probably benign Het
Xkr4 G A 1: 3,287,185 (GRCm39) T335I probably damaging Het
Zdhhc23 A T 16: 43,791,873 (GRCm39) I300N probably damaging Het
Zfp729b T C 13: 67,741,056 (GRCm39) K403R 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
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
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
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
Predicted Primers PCR Primer
(F):5'- ACTCTGGCCTGGTTAACATGG -3'
(R):5'- TTGGGTTCTTACAGCAACAGTTTTG -3'

Sequencing Primer
(F):5'- CCTGGTTAACATGGCAAGTTC -3'
(R):5'- CAACAGTTTTGCATAGAACGTTGAG -3'
Posted On 2019-05-15