Incidental Mutation 'R1885:Kl'
ID 209429
Institutional Source Beutler Lab
Gene Symbol Kl
Ensembl Gene ENSMUSG00000058488
Gene Name klotho
Synonyms alpha-kl
MMRRC Submission 039906-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1885 (G1)
Quality Score 138
Status Not validated
Chromosome 5
Chromosomal Location 150876072-150917282 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 150876959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 260 (R260G)
Ref Sequence ENSEMBL: ENSMUSP00000077899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078856]
AlphaFold O35082
Predicted Effect possibly damaging
Transcript: ENSMUST00000078856
AA Change: R260G

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000077899
Gene: ENSMUSG00000058488
AA Change: R260G

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
low complexity region 45 56 N/A INTRINSIC
Pfam:Glyco_hydro_1 59 380 4.3e-99 PFAM
Pfam:Glyco_hydro_1 376 508 7.9e-33 PFAM
Pfam:Glyco_hydro_1 517 955 1e-79 PFAM
transmembrane domain 984 1006 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202096
Coding Region Coverage
  • 1x: 97.0%
  • 3x: 96.1%
  • 10x: 92.7%
  • 20x: 85.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type-I membrane protein that is related to beta-glucosidases. Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors underlying the degenerative processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF. Also, mutations within this protein have been associated with ageing and bone loss. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice have a short lifespan and growth retardation with one allele homeostatic imbalances and soft tissue calcification are also seen. With a second allele abnormal cancellous bone and femur morphology are seen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik T A 9: 108,270,809 (GRCm39) D124E possibly damaging Het
Aarsd1 T C 11: 101,302,227 (GRCm39) T278A probably benign Het
Acox2 C T 14: 8,248,102 (GRCm38) M393I probably benign Het
Adcy10 A G 1: 165,398,377 (GRCm39) I1491M probably benign Het
Adcy3 T A 12: 4,184,951 (GRCm39) V209E probably damaging Het
Adora3 A C 3: 105,812,152 (GRCm39) N13H possibly damaging Het
Ap2b1 T A 11: 83,281,561 (GRCm39) N822K probably damaging Het
Apobec3 A T 15: 79,781,906 (GRCm39) H82L probably damaging Het
Atg9b A T 5: 24,593,252 (GRCm39) W384R probably damaging Het
Atp8a1 A G 5: 67,904,661 (GRCm39) V506A possibly damaging Het
Atxn1 G T 13: 45,721,280 (GRCm39) A205D probably benign Het
B4galnt3 T C 6: 120,200,601 (GRCm39) E223G probably damaging Het
Brip1 C A 11: 86,029,641 (GRCm39) G631V probably damaging Het
Cacna1i A G 15: 80,243,145 (GRCm39) E434G probably damaging Het
Caprin2 A T 6: 148,779,383 (GRCm39) probably null Het
Cblif G A 19: 11,729,688 (GRCm39) A216T probably benign Het
Ccdc80 A C 16: 44,917,083 (GRCm39) D613A probably benign Het
Ccdc81 T C 7: 89,515,819 (GRCm39) E620G possibly damaging Het
Cdhr18 A C 14: 13,828,607 (GRCm38) Y718D probably damaging Het
Cebpz A T 17: 79,239,545 (GRCm39) D625E probably benign Het
Coq6 C A 12: 84,419,238 (GRCm39) N388K probably damaging Het
Cracd A G 5: 77,004,589 (GRCm39) T317A unknown Het
D430041D05Rik T C 2: 104,060,800 (GRCm39) M1365V probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dap3 A G 3: 88,838,281 (GRCm39) L86P probably damaging Het
Dpysl4 T G 7: 138,676,723 (GRCm39) V391G probably damaging Het
Dyrk4 G T 6: 126,854,144 (GRCm39) Q550K probably benign Het
Epas1 A G 17: 87,112,723 (GRCm39) D107G probably damaging Het
Esrp2 A G 8: 106,858,453 (GRCm39) V636A possibly damaging Het
Etl4 T A 2: 20,748,795 (GRCm39) Y176N probably damaging Het
Etnppl T C 3: 130,423,111 (GRCm39) V264A probably benign Het
Ezhip GTCATCATCATCATC GTCATCATCATCATCATC X: 5,994,645 (GRCm39) probably benign Het
Fer T A 17: 64,445,909 (GRCm39) V790D probably damaging Het
Gdpd5 G A 7: 99,109,204 (GRCm39) V575I probably benign Het
Gfus G T 15: 75,798,838 (GRCm39) T123N possibly damaging Het
Gipc3 T C 10: 81,177,181 (GRCm39) I130V probably benign Het
Iqsec3 G A 6: 121,405,326 (GRCm39) probably benign Het
Kdm5d G T Y: 940,781 (GRCm39) probably null Het
Kras T C 6: 145,177,843 (GRCm39) E143G probably damaging Het
Ksr1 C A 11: 78,911,204 (GRCm39) V11F probably null Het
Ksr1 T C 11: 78,927,347 (GRCm39) T329A probably damaging Het
Marchf6 A G 15: 31,502,952 (GRCm39) V83A probably benign Het
Mettl2 T C 11: 105,022,446 (GRCm39) I212T possibly damaging Het
Mgat3 A G 15: 80,095,820 (GRCm39) I216V probably benign Het
Mkrn3 G A 7: 62,068,486 (GRCm39) A435V probably benign Het
Mlh1 C A 9: 111,087,624 (GRCm39) S24I probably benign Het
Mmel1 G A 4: 154,975,333 (GRCm39) R424Q possibly damaging Het
Mob3a G A 10: 80,527,068 (GRCm39) Q86* probably null Het
Myh3 A G 11: 66,977,453 (GRCm39) K368E probably benign Het
Myo16 T A 8: 10,372,656 (GRCm39) N118K probably damaging Het
Myo5c A G 9: 75,157,043 (GRCm39) S160G probably damaging Het
Nat1 A T 8: 67,943,653 (GRCm39) I13F probably damaging Het
Ncoa7 T C 10: 30,524,448 (GRCm39) N823S possibly damaging Het
Nwd1 T C 8: 73,431,622 (GRCm39) S1207P probably benign Het
Or2y17 T C 11: 49,231,662 (GRCm39) L101P probably damaging Het
Or4k49 G T 2: 111,495,099 (GRCm39) S176I probably damaging Het
Or5p57 T C 7: 107,665,985 (GRCm39) N7D probably benign Het
Or5w22 T C 2: 87,363,168 (GRCm39) S264P probably damaging Het
Paqr8 A T 1: 21,005,704 (GRCm39) H286L probably damaging Het
Pdzd4 G A X: 72,839,052 (GRCm39) R419C probably damaging Het
Pes1 A G 11: 3,919,482 (GRCm39) K52E probably damaging Het
Ppp1r13l T C 7: 19,111,496 (GRCm39) S774P probably damaging Het
Robo2 T C 16: 73,713,033 (GRCm39) D1283G probably benign Het
Rp1l1 T C 14: 64,265,839 (GRCm39) V475A probably benign Het
Scml4 A G 10: 42,788,223 (GRCm39) Y51C probably damaging Het
Skic3 A T 13: 76,261,166 (GRCm39) R112S probably benign Het
Skic3 A G 13: 76,278,354 (GRCm39) Q556R probably benign Het
Slc2a4 C T 11: 69,835,833 (GRCm39) V339I probably benign Het
Slc39a6 G A 18: 24,734,539 (GRCm39) probably null Het
Slco1b2 A T 6: 141,628,951 (GRCm39) Y551F probably damaging Het
Snx33 T C 9: 56,833,121 (GRCm39) H316R probably benign Het
Spata31d1a T G 13: 59,849,821 (GRCm39) D769A probably damaging Het
Stmn2 A T 3: 8,606,964 (GRCm39) E28V probably damaging Het
Syt9 A G 7: 107,035,736 (GRCm39) D251G probably damaging Het
Tjap1 T C 17: 46,573,347 (GRCm39) T37A probably damaging Het
Tmc7 A T 7: 118,160,310 (GRCm39) F176I possibly damaging Het
Tprg1 A G 16: 25,231,641 (GRCm39) T206A probably benign Het
Ubqlnl A T 7: 103,799,272 (GRCm39) M75K possibly damaging Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Vmn2r12 C T 5: 109,239,942 (GRCm39) G207E probably damaging Het
Xrn2 T G 2: 146,891,281 (GRCm39) L697* probably null Het
Zfp764 A G 7: 127,004,211 (GRCm39) F307L probably benign Het
Zfp804b T C 5: 6,820,376 (GRCm39) R860G probably damaging Het
Zranb2 A T 3: 157,248,793 (GRCm39) probably null Het
Other mutations in Kl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00800:Kl APN 5 150,904,233 (GRCm39) nonsense probably null
IGL00815:Kl APN 5 150,904,315 (GRCm39) missense possibly damaging 0.55
IGL00840:Kl APN 5 150,904,252 (GRCm39) missense possibly damaging 0.90
IGL01347:Kl APN 5 150,904,130 (GRCm39) missense probably damaging 1.00
IGL01642:Kl APN 5 150,904,334 (GRCm39) missense possibly damaging 0.58
IGL01774:Kl APN 5 150,911,948 (GRCm39) missense probably benign 0.00
IGL01937:Kl APN 5 150,912,402 (GRCm39) missense probably damaging 0.99
IGL01945:Kl APN 5 150,912,402 (GRCm39) missense probably damaging 0.99
IGL02510:Kl APN 5 150,912,466 (GRCm39) missense probably damaging 1.00
IGL02696:Kl APN 5 150,904,450 (GRCm39) missense probably benign 0.01
IGL03028:Kl APN 5 150,915,015 (GRCm39) missense probably damaging 1.00
IGL03149:Kl APN 5 150,906,200 (GRCm39) nonsense probably null
anatolia UTSW 5 150,912,318 (GRCm39) missense possibly damaging 0.69
ararat UTSW 5 150,912,318 (GRCm39) missense possibly damaging 0.69
Turkic UTSW 5 150,876,755 (GRCm39) missense probably damaging 1.00
R0480:Kl UTSW 5 150,876,753 (GRCm39) missense probably damaging 1.00
R0565:Kl UTSW 5 150,904,409 (GRCm39) missense possibly damaging 0.76
R0723:Kl UTSW 5 150,876,566 (GRCm39) missense probably damaging 1.00
R1052:Kl UTSW 5 150,905,985 (GRCm39) missense probably damaging 1.00
R1205:Kl UTSW 5 150,904,153 (GRCm39) missense probably damaging 1.00
R1512:Kl UTSW 5 150,912,062 (GRCm39) missense probably benign 0.00
R1529:Kl UTSW 5 150,912,406 (GRCm39) missense probably benign
R1588:Kl UTSW 5 150,906,097 (GRCm39) missense probably benign 0.20
R1714:Kl UTSW 5 150,876,798 (GRCm39) missense probably benign 0.05
R1748:Kl UTSW 5 150,904,450 (GRCm39) missense possibly damaging 0.87
R1920:Kl UTSW 5 150,906,132 (GRCm39) missense probably benign 0.15
R2156:Kl UTSW 5 150,912,425 (GRCm39) missense probably benign 0.41
R2926:Kl UTSW 5 150,876,806 (GRCm39) missense probably damaging 1.00
R4837:Kl UTSW 5 150,904,312 (GRCm39) missense possibly damaging 0.90
R5221:Kl UTSW 5 150,912,616 (GRCm39) missense probably damaging 1.00
R5687:Kl UTSW 5 150,911,931 (GRCm39) missense possibly damaging 0.84
R5726:Kl UTSW 5 150,915,003 (GRCm39) missense possibly damaging 0.91
R5727:Kl UTSW 5 150,915,003 (GRCm39) missense possibly damaging 0.91
R5735:Kl UTSW 5 150,915,003 (GRCm39) missense possibly damaging 0.91
R5797:Kl UTSW 5 150,915,003 (GRCm39) missense possibly damaging 0.91
R5933:Kl UTSW 5 150,912,948 (GRCm39) missense probably damaging 1.00
R6075:Kl UTSW 5 150,876,466 (GRCm39) missense probably damaging 1.00
R6076:Kl UTSW 5 150,876,466 (GRCm39) missense probably damaging 1.00
R6077:Kl UTSW 5 150,876,466 (GRCm39) missense probably damaging 1.00
R6149:Kl UTSW 5 150,912,318 (GRCm39) missense possibly damaging 0.69
R6150:Kl UTSW 5 150,912,318 (GRCm39) missense possibly damaging 0.69
R6151:Kl UTSW 5 150,912,318 (GRCm39) missense possibly damaging 0.69
R6158:Kl UTSW 5 150,912,318 (GRCm39) missense possibly damaging 0.69
R6236:Kl UTSW 5 150,876,755 (GRCm39) missense probably damaging 1.00
R6609:Kl UTSW 5 150,912,427 (GRCm39) missense probably benign 0.00
R7489:Kl UTSW 5 150,876,461 (GRCm39) missense probably damaging 1.00
R8406:Kl UTSW 5 150,906,229 (GRCm39) missense probably benign 0.01
R9026:Kl UTSW 5 150,876,491 (GRCm39) missense probably benign 0.23
R9087:Kl UTSW 5 150,911,957 (GRCm39) missense probably benign 0.19
R9380:Kl UTSW 5 150,912,342 (GRCm39) missense possibly damaging 0.50
RF005:Kl UTSW 5 150,876,885 (GRCm39) missense probably benign 0.07
RF024:Kl UTSW 5 150,876,885 (GRCm39) missense probably benign 0.07
X0066:Kl UTSW 5 150,915,080 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TACCCTGTACCATTGGGACC -3'
(R):5'- TTCTAGAAGAGAACCCCAGAGC -3'

Sequencing Primer
(F):5'- TACCATTGGGACCTGCCACAG -3'
(R):5'- GATTTCTGGAAGTGGCTCT -3'
Posted On 2014-06-30