Incidental Mutation 'R1205:Kl'
ID 100404
Institutional Source Beutler Lab
Gene Symbol Kl
Ensembl Gene ENSMUSG00000058488
Gene Name klotho
Synonyms alpha-kl
MMRRC Submission 039275-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1205 (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 150904153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 302 (S302P)
Ref Sequence ENSEMBL: ENSMUSP00000077899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078856]
AlphaFold O35082
Predicted Effect probably damaging
Transcript: ENSMUST00000078856
AA Change: S302P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077899
Gene: ENSMUSG00000058488
AA Change: S302P

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: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.9%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 T A 10: 14,310,083 (GRCm39) N774I probably damaging Het
Bpifc T A 10: 85,817,168 (GRCm39) D230V probably damaging Het
Chrna2 C T 14: 66,380,812 (GRCm39) A27V probably benign Het
Duox1 C T 2: 122,158,406 (GRCm39) Q630* probably null Het
Dzip3 C T 16: 48,772,044 (GRCm39) G542R probably damaging Het
Epha3 ATGAACTGCT AT 16: 63,418,611 (GRCm39) probably null Het
Fnip1 G T 11: 54,393,132 (GRCm39) V523L possibly damaging Het
Hc T A 2: 34,893,536 (GRCm39) D1225V possibly damaging Het
Hnrnpu C T 1: 178,159,734 (GRCm39) probably benign Het
Ift172 C T 5: 31,443,136 (GRCm39) V125I probably benign Het
Kcnip2 T A 19: 45,783,422 (GRCm39) Q93L probably null Het
Kif27 A T 13: 58,492,019 (GRCm39) H373Q probably benign Het
Lyst G A 13: 13,854,787 (GRCm39) V2386I probably benign Het
Map4k4 G A 1: 40,043,004 (GRCm39) A128T probably damaging Het
Marchf6 A C 15: 31,469,819 (GRCm39) M717R probably benign Het
Morc2b A G 17: 33,354,908 (GRCm39) Y955H probably damaging Het
Myo7b A G 18: 32,127,395 (GRCm39) S636P probably damaging Het
Neb T A 2: 52,112,996 (GRCm39) D4266V probably damaging Het
Nynrin G A 14: 56,091,646 (GRCm39) probably benign Het
Or1j18 G A 2: 36,624,767 (GRCm39) V145I probably benign Het
Or4c107 A T 2: 88,788,932 (GRCm39) I41L probably benign Het
Or5b104 T C 19: 13,072,899 (GRCm39) I38V probably benign Het
Pcdh9 A G 14: 94,123,501 (GRCm39) S890P probably benign Het
Pcnx1 G T 12: 82,003,017 (GRCm39) D1052Y probably damaging Het
Pibf1 G A 14: 99,338,639 (GRCm39) E52K probably damaging Het
Siglec1 T G 2: 130,922,384 (GRCm39) S564R possibly damaging Het
Sin3a T A 9: 57,026,459 (GRCm39) V1125E probably damaging Het
Slco4c1 G T 1: 96,795,613 (GRCm39) D148E probably damaging Het
Spag6l A T 16: 16,605,171 (GRCm39) L127Q probably damaging Het
Syne4 C A 7: 30,014,761 (GRCm39) T68N probably damaging Het
Tas2r134 A G 2: 51,517,998 (GRCm39) Y159C probably benign Het
Tasor A T 14: 27,183,275 (GRCm39) D578V probably damaging Het
Thoc2l T C 5: 104,668,079 (GRCm39) L867S probably benign Het
Tmem132a C A 19: 10,836,448 (GRCm39) R694L probably benign Het
Ttc28 C T 5: 111,433,635 (GRCm39) P2192L probably benign Het
Ttc34 T G 4: 154,946,671 (GRCm39) V857G probably benign Het
Ugt1a7c A T 1: 88,023,678 (GRCm39) H279L probably benign Het
Vmn1r32 G A 6: 66,530,539 (GRCm39) T79I probably benign Het
Vps13a A T 19: 16,617,905 (GRCm39) V2960D probably damaging Het
Wee2 G T 6: 40,420,875 (GRCm39) probably benign 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
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
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'- TCCACTGGCTGCTAAAACACACTG -3'
(R):5'- TGAAAGCTCAAGGTTGGTCCGAAG -3'

Sequencing Primer
(F):5'- AGGGTGGCCTTCCTTGAAATAAC -3'
(R):5'- AAGTCAGCAGTTCCTCTGATGAG -3'
Posted On 2014-01-15