Incidental Mutation 'R1748:Kl'
ID 194112
Institutional Source Beutler Lab
Gene Symbol Kl
Ensembl Gene ENSMUSG00000058488
Gene Name klotho
Synonyms alpha-kl
MMRRC Submission 039780-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1748 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 150876072-150917282 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 150904450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 401 (S401P)
Ref Sequence ENSEMBL: ENSMUSP00000077899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078856]
AlphaFold O35082
Predicted Effect possibly damaging
Transcript: ENSMUST00000078856
AA Change: S401P

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000077899
Gene: ENSMUSG00000058488
AA Change: S401P

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: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.8%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G T 16: 20,152,338 (GRCm39) Q1403K probably benign Het
Adamts12 G A 15: 11,241,548 (GRCm39) M373I probably damaging Het
Agrp G T 8: 106,293,467 (GRCm39) T106K probably damaging Het
Aire T C 10: 77,879,314 (GRCm39) H15R probably damaging Het
Aldh3b2 T C 19: 4,027,572 (GRCm39) F38L probably damaging Het
Alk A C 17: 72,910,416 (GRCm39) C97G probably benign Het
Ano8 T C 8: 71,931,602 (GRCm39) probably benign Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Arsk T A 13: 76,210,529 (GRCm39) H506L probably benign Het
Asgr2 G T 11: 69,987,658 (GRCm39) R52L probably damaging Het
Atp2a1 A G 7: 126,058,780 (GRCm39) I145T possibly damaging Het
Atrnl1 A G 19: 57,703,134 (GRCm39) T1051A probably damaging Het
Cacna1e A T 1: 154,362,315 (GRCm39) V424D possibly damaging Het
Capn3 T C 2: 120,327,494 (GRCm39) V574A probably benign Het
Capzb C A 4: 138,984,679 (GRCm39) D67E probably damaging Het
Ccdc68 A T 18: 70,089,062 (GRCm39) T202S probably benign Het
Ccser2 T C 14: 36,618,270 (GRCm39) K123R probably damaging Het
Ccser2 T A 14: 36,618,271 (GRCm39) K123* probably null Het
Ces2h T C 8: 105,744,473 (GRCm39) I316T probably benign Het
Chd3 T G 11: 69,255,523 (GRCm39) K122Q possibly damaging Het
Col12a1 T C 9: 79,580,279 (GRCm39) T1533A probably benign Het
Cr2 T A 1: 194,838,213 (GRCm39) K1084* probably null Het
Ddx28 A G 8: 106,737,314 (GRCm39) L248P probably benign Het
Depdc5 A G 5: 33,075,286 (GRCm39) E488G probably benign Het
Dld T C 12: 31,384,745 (GRCm39) T305A probably benign Het
Dok5 T A 2: 170,683,373 (GRCm39) F211L probably damaging Het
Duox2 T C 2: 122,117,532 (GRCm39) D934G probably benign Het
Eif3a G A 19: 60,755,236 (GRCm39) T982I unknown Het
Erbb2 G T 11: 98,326,161 (GRCm39) R979L probably benign Het
Espl1 G T 15: 102,206,964 (GRCm39) V143L possibly damaging Het
Fanci T C 7: 79,080,236 (GRCm39) L598P probably damaging Het
Fat2 T A 11: 55,147,473 (GRCm39) E3923V probably damaging Het
Fhod3 A T 18: 24,903,550 (GRCm39) K95* probably null Het
Gpr108 G T 17: 57,543,217 (GRCm39) T484K probably damaging Het
Hao1 T A 2: 134,340,238 (GRCm39) N351I possibly damaging Het
Hepacam A T 9: 37,295,189 (GRCm39) N308I possibly damaging Het
Herc2 T C 7: 55,798,571 (GRCm39) probably null Het
Hltf T C 3: 20,130,685 (GRCm39) I301T probably benign Het
Igsf10 A T 3: 59,226,514 (GRCm39) N2386K probably damaging Het
Ikbke G T 1: 131,186,937 (GRCm39) T585K probably benign Het
Iqgap3 A G 3: 88,021,287 (GRCm39) T448A possibly damaging Het
Lama4 T C 10: 38,941,615 (GRCm39) V684A probably benign Het
Lgals8 A T 13: 12,469,824 (GRCm39) F45Y probably damaging Het
Lgalsl G A 11: 20,776,491 (GRCm39) R134C probably benign Het
Lmcd1 T C 6: 112,306,875 (GRCm39) V349A probably benign Het
Lrp1b T A 2: 41,618,718 (GRCm39) N119Y possibly damaging Het
Lrrc73 T A 17: 46,566,621 (GRCm39) I157N probably damaging Het
Map3k8 A G 18: 4,334,766 (GRCm39) Y293H probably damaging Het
Mybphl A T 3: 108,282,400 (GRCm39) probably null Het
Naa12 T C 18: 80,255,161 (GRCm39) S152P probably benign Het
Ndrg1 A G 15: 66,802,930 (GRCm39) M140T possibly damaging Het
Or2n1e T A 17: 38,585,997 (GRCm39) C112S possibly damaging Het
Or8b38 A G 9: 37,972,796 (GRCm39) Y60C probably damaging Het
Pbx2 T C 17: 34,812,951 (GRCm39) S76P possibly damaging Het
Plcl2 T A 17: 50,913,826 (GRCm39) S278R probably benign Het
Polr3d A T 14: 70,676,915 (GRCm39) L393* probably null Het
Prmt6 T C 3: 110,157,683 (GRCm39) Q202R probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Sag T A 1: 87,759,662 (GRCm39) I300N probably damaging Het
Sap25 T A 5: 137,640,180 (GRCm39) probably null Het
Scarb2 A G 5: 92,608,695 (GRCm39) L177P probably damaging Het
Sh3pxd2b A T 11: 32,372,203 (GRCm39) N457Y possibly damaging Het
Siae T A 9: 37,542,902 (GRCm39) probably null Het
Slc36a1 T C 11: 55,119,150 (GRCm39) L375P probably damaging Het
Smg8 A G 11: 86,976,594 (GRCm39) V329A probably damaging Het
Tas2r113 A T 6: 132,870,695 (GRCm39) Y241F probably damaging Het
Tm9sf3 T G 19: 41,244,668 (GRCm39) S70R probably benign Het
Tmem144 C T 3: 79,732,594 (GRCm39) S228N probably damaging Het
Tmem45a C A 16: 56,642,701 (GRCm39) V157F possibly damaging Het
Tpbg G T 9: 85,726,429 (GRCm39) V133L probably damaging Het
Trpv3 G A 11: 73,186,209 (GRCm39) V667I possibly damaging Het
Ube2c T C 2: 164,613,241 (GRCm39) F53S probably damaging Het
Vmn1r78 T A 7: 11,887,250 (GRCm39) V287D probably damaging Het
Vmn2r114 T A 17: 23,527,035 (GRCm39) D499V probably benign Het
Zpld2 C G 4: 133,927,610 (GRCm39) C381S probably damaging Het
Zpld2 T A 4: 133,929,430 (GRCm39) T292S possibly damaging 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
R1885:Kl UTSW 5 150,876,959 (GRCm39) missense possibly damaging 0.67
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'- TGGCGACTACCCAGAGAGTATGAAG -3'
(R):5'- GGCCCAAATGAGAGCAGTGTTACA -3'

Sequencing Primer
(F):5'- GAGTATGAAGAACAACCTCTCGTC -3'
(R):5'- tggtgtatgatgtgtgtgtgg -3'
Posted On 2014-05-23