Incidental Mutation 'R0145:Lct'
ID 22545
Institutional Source Beutler Lab
Gene Symbol Lct
Ensembl Gene ENSMUSG00000026354
Gene Name lactase
Synonyms LPH, LOC226413, Lphl
MMRRC Submission 038430-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0145 (G1) of strain 722
Quality Score 225
Status Validated (trace)
Chromosome 1
Chromosomal Location 128212493-128256055 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128255632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 137 (M137V)
Ref Sequence ENSEMBL: ENSMUSP00000073190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027601] [ENSMUST00000073490] [ENSMUST00000190495]
AlphaFold F8VPT3
Predicted Effect probably benign
Transcript: ENSMUST00000027601
SMART Domains Protein: ENSMUSP00000027601
Gene: ENSMUSG00000026355

DomainStartEndE-ValueType
MCM 119 657 1.43e-270 SMART
PDB:2LE8|A 710 821 1e-47 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000073490
AA Change: M137V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000073190
Gene: ENSMUSG00000026354
AA Change: M137V

DomainStartEndE-ValueType
Pfam:Glyco_hydro_1 76 226 1.6e-19 PFAM
low complexity region 322 340 N/A INTRINSIC
Pfam:Glyco_hydro_1 380 849 4.8e-169 PFAM
low complexity region 865 875 N/A INTRINSIC
Pfam:Glyco_hydro_1 902 1368 3.7e-181 PFAM
Pfam:Glyco_hydro_1 1377 1844 6.9e-183 PFAM
transmembrane domain 1885 1907 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000190495
SMART Domains Protein: ENSMUSP00000140308
Gene: ENSMUSG00000026355

DomainStartEndE-ValueType
MCM 119 657 1.43e-270 SMART
PDB:2LE8|A 710 783 3e-29 PDB
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 93.7%
  • 20x: 82.1%
Validation Efficiency 96% (109/113)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the glycosyl hydrolase 1 family of proteins. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme is integral to the plasma membrane and has both phlorizin hydrolase activity and lactase activity. Mutations in this gene are associated with congenital lactase deficiency. Polymorphisms in this gene are associated with lactase persistence, in which intestinal lactase activity persists at childhood levels into adulthood. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A G 10: 100,437,783 (GRCm39) E64G probably damaging Het
Actr6 A T 10: 89,564,040 (GRCm39) Y77* probably null Het
Aldoart1 A T 4: 72,769,576 (GRCm39) S411T probably benign Het
Aqp1 C T 6: 55,323,672 (GRCm39) R234C probably damaging Het
Arsb G A 13: 93,998,795 (GRCm39) G368R possibly damaging Het
Asxl3 G A 18: 22,586,662 (GRCm39) A151T probably damaging Het
Bcas3 T C 11: 85,250,436 (GRCm39) probably benign Het
Bmpr2 AACACA AACA 1: 59,906,739 (GRCm39) probably null Het
Bst1 A G 5: 43,976,414 (GRCm39) Y49C probably damaging Het
Btrc T A 19: 45,411,612 (GRCm39) L12Q probably damaging Het
Cd248 T C 19: 5,119,051 (GRCm39) F300L possibly damaging Het
Cdk11b G T 4: 155,726,076 (GRCm39) probably benign Het
Cfap410 T C 10: 77,819,390 (GRCm39) S196P probably benign Het
Cfap44 A T 16: 44,288,735 (GRCm39) D1495V probably damaging Het
Chil3 T A 3: 106,067,794 (GRCm39) I124F probably damaging Het
Cnot2 A T 10: 116,353,273 (GRCm39) S63T possibly damaging Het
Cox8a G T 19: 7,192,783 (GRCm39) H61N probably benign Het
Cpne9 T C 6: 113,277,562 (GRCm39) V427A probably damaging Het
Ctsll3 C A 13: 60,946,409 (GRCm39) G301C probably damaging Het
Cubn T A 2: 13,311,243 (GRCm39) D3094V probably damaging Het
Cyba A T 8: 123,153,977 (GRCm39) M65K possibly damaging Het
Cyp4f39 T A 17: 32,705,934 (GRCm39) S342T possibly damaging Het
Daam2 T C 17: 49,787,806 (GRCm39) I436V probably benign Het
Daglb T C 5: 143,460,363 (GRCm39) probably benign Het
Dnah7b T G 1: 46,262,338 (GRCm39) L2067R probably damaging Het
Ep300 T C 15: 81,500,328 (GRCm39) probably null Het
Esm1 A G 13: 113,353,230 (GRCm39) N171D probably damaging Het
Fbxl2 T C 9: 113,814,393 (GRCm39) E266G probably damaging Het
Ficd G T 5: 113,876,880 (GRCm39) A352S probably damaging Het
H2-Q2 A G 17: 35,564,152 (GRCm39) D302G probably benign Het
Hacd3 A T 9: 64,911,524 (GRCm39) probably benign Het
Kbtbd6 T A 14: 79,690,464 (GRCm39) N386K probably benign Het
Lilrb4b T G 10: 51,360,614 (GRCm39) N176K probably benign Het
Macf1 T A 4: 123,281,190 (GRCm39) H4340L probably damaging Het
Mcidas A G 13: 113,130,906 (GRCm39) D77G probably damaging Het
Mmrn1 C A 6: 60,949,994 (GRCm39) Q315K probably damaging Het
Mon2 C A 10: 122,849,417 (GRCm39) L1294F possibly damaging Het
Muc5ac A G 7: 141,349,012 (GRCm39) T483A possibly damaging Het
Nacc1 T C 8: 85,401,504 (GRCm39) probably benign Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Ngef A G 1: 87,468,370 (GRCm39) probably benign Het
Nol8 C T 13: 49,815,923 (GRCm39) A677V possibly damaging Het
Ogfod3 A T 11: 121,085,896 (GRCm39) probably benign Het
Or6c8 A T 10: 128,915,232 (GRCm39) V200E probably damaging Het
Or8i2 A C 2: 86,852,134 (GRCm39) Y251* probably null Het
Parpbp T C 10: 87,928,871 (GRCm39) Y523C possibly damaging Het
Pik3cg C A 12: 32,254,321 (GRCm39) L555F probably benign Het
Pkp3 T G 7: 140,669,676 (GRCm39) probably null Het
Pole G T 5: 110,472,291 (GRCm39) R1518L probably damaging Het
Prkab1 T C 5: 116,156,144 (GRCm39) probably benign Het
Prrc2a T C 17: 35,374,796 (GRCm39) T1285A probably benign Het
Pus1 C A 5: 110,922,720 (GRCm39) V222L probably benign Het
Rab11fip1 A G 8: 27,633,352 (GRCm39) L1118P probably damaging Het
Ranbp2 T A 10: 58,315,868 (GRCm39) I2196N probably damaging Het
Rims3 T C 4: 120,744,223 (GRCm39) L151P probably damaging Het
Rnf130 A G 11: 49,962,046 (GRCm39) D164G possibly damaging Het
Rps6ka2 C A 17: 7,529,585 (GRCm39) L293I probably benign Het
Ruvbl1 A G 6: 88,461,441 (GRCm39) T269A possibly damaging Het
Sema4a A T 3: 88,358,729 (GRCm39) I10N probably damaging Het
Serpinb6e A T 13: 34,025,043 (GRCm39) S83T probably benign Het
Slc12a9 C A 5: 137,313,550 (GRCm39) W803L probably damaging Het
Slc3a2 A G 19: 8,685,437 (GRCm39) S188P probably damaging Het
Slc7a13 G A 4: 19,818,782 (GRCm39) probably benign Het
Spart A T 3: 55,035,092 (GRCm39) K493* probably null Het
Spata31e2 A G 1: 26,726,413 (GRCm39) M32T probably benign Het
Sun1 T C 5: 139,227,166 (GRCm39) V574A probably damaging Het
Supt6 A G 11: 78,099,062 (GRCm39) V1603A probably benign Het
Tgm5 A G 2: 120,908,062 (GRCm39) V38A possibly damaging Het
Tm6sf2 T C 8: 70,530,518 (GRCm39) probably benign Het
Tnfaip2 T A 12: 111,412,292 (GRCm39) V231E possibly damaging Het
Tube1 T A 10: 39,021,598 (GRCm39) M281K possibly damaging Het
Tubgcp3 A G 8: 12,707,561 (GRCm39) Y143H probably benign Het
Tyrp1 A G 4: 80,759,015 (GRCm39) Y296C probably damaging Het
Utp4 A G 8: 107,621,301 (GRCm39) N26S probably benign Het
Vgf T A 5: 137,060,336 (GRCm39) probably benign Het
Zfat T C 15: 68,058,948 (GRCm39) K196E possibly damaging Het
Zfp366 G T 13: 99,366,048 (GRCm39) S403I probably damaging Het
Zfp462 G A 4: 55,010,529 (GRCm39) G832R probably damaging Het
Zfp955a T A 17: 33,461,430 (GRCm39) Q234L probably damaging Het
Zup1 T C 10: 33,819,709 (GRCm39) T202A probably damaging Het
Other mutations in Lct
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00777:Lct APN 1 128,215,293 (GRCm39) missense probably benign 0.09
IGL00970:Lct APN 1 128,231,805 (GRCm39) missense probably damaging 1.00
IGL01022:Lct APN 1 128,228,596 (GRCm39) missense probably benign
IGL01878:Lct APN 1 128,222,003 (GRCm39) missense probably damaging 1.00
IGL01892:Lct APN 1 128,235,342 (GRCm39) missense probably damaging 1.00
IGL02307:Lct APN 1 128,214,327 (GRCm39) missense possibly damaging 0.70
IGL02434:Lct APN 1 128,231,527 (GRCm39) missense probably damaging 0.97
IGL02559:Lct APN 1 128,222,003 (GRCm39) missense probably damaging 1.00
IGL02623:Lct APN 1 128,235,988 (GRCm39) missense probably benign 0.01
IGL02818:Lct APN 1 128,227,905 (GRCm39) missense probably damaging 1.00
IGL02949:Lct APN 1 128,240,869 (GRCm39) missense probably benign 0.26
IGL02951:Lct APN 1 128,227,948 (GRCm39) missense probably damaging 1.00
IGL03087:Lct APN 1 128,228,112 (GRCm39) missense possibly damaging 0.81
IGL03227:Lct APN 1 128,255,426 (GRCm39) missense probably benign 0.09
ANU18:Lct UTSW 1 128,235,784 (GRCm39) nonsense probably null
R0071:Lct UTSW 1 128,219,755 (GRCm39) nonsense probably null
R0071:Lct UTSW 1 128,219,755 (GRCm39) nonsense probably null
R0135:Lct UTSW 1 128,212,860 (GRCm39) missense probably damaging 0.98
R0179:Lct UTSW 1 128,255,422 (GRCm39) missense probably benign
R0331:Lct UTSW 1 128,226,479 (GRCm39) splice site probably benign
R0366:Lct UTSW 1 128,214,199 (GRCm39) missense probably benign 0.03
R0399:Lct UTSW 1 128,228,262 (GRCm39) missense probably damaging 1.00
R0492:Lct UTSW 1 128,228,319 (GRCm39) missense probably damaging 1.00
R0548:Lct UTSW 1 128,212,932 (GRCm39) missense probably damaging 1.00
R0691:Lct UTSW 1 128,235,971 (GRCm39) missense probably benign 0.00
R0755:Lct UTSW 1 128,221,872 (GRCm39) missense possibly damaging 0.46
R0839:Lct UTSW 1 128,214,346 (GRCm39) missense probably benign 0.00
R1128:Lct UTSW 1 128,229,046 (GRCm39) missense probably damaging 0.99
R1135:Lct UTSW 1 128,221,861 (GRCm39) critical splice donor site probably null
R1321:Lct UTSW 1 128,227,759 (GRCm39) missense probably benign
R1448:Lct UTSW 1 128,235,559 (GRCm39) missense probably damaging 0.99
R1450:Lct UTSW 1 128,235,640 (GRCm39) missense probably damaging 1.00
R1572:Lct UTSW 1 128,221,932 (GRCm39) missense probably benign 0.25
R1582:Lct UTSW 1 128,228,299 (GRCm39) missense probably damaging 1.00
R1668:Lct UTSW 1 128,215,459 (GRCm39) splice site probably null
R1757:Lct UTSW 1 128,228,994 (GRCm39) missense probably damaging 1.00
R1775:Lct UTSW 1 128,228,038 (GRCm39) missense probably damaging 1.00
R1792:Lct UTSW 1 128,255,679 (GRCm39) missense possibly damaging 0.54
R1815:Lct UTSW 1 128,227,896 (GRCm39) missense probably damaging 1.00
R1932:Lct UTSW 1 128,221,898 (GRCm39) missense probably damaging 1.00
R2325:Lct UTSW 1 128,231,963 (GRCm39) missense probably damaging 1.00
R2381:Lct UTSW 1 128,231,858 (GRCm39) nonsense probably null
R3001:Lct UTSW 1 128,231,963 (GRCm39) missense probably damaging 1.00
R3002:Lct UTSW 1 128,231,963 (GRCm39) missense probably damaging 1.00
R3003:Lct UTSW 1 128,231,963 (GRCm39) missense probably damaging 1.00
R3011:Lct UTSW 1 128,229,109 (GRCm39) missense possibly damaging 0.74
R3082:Lct UTSW 1 128,215,345 (GRCm39) missense probably damaging 1.00
R3683:Lct UTSW 1 128,231,963 (GRCm39) missense probably damaging 1.00
R3684:Lct UTSW 1 128,231,963 (GRCm39) missense probably damaging 1.00
R3726:Lct UTSW 1 128,231,963 (GRCm39) missense probably damaging 1.00
R3886:Lct UTSW 1 128,231,963 (GRCm39) missense probably damaging 1.00
R3887:Lct UTSW 1 128,231,963 (GRCm39) missense probably damaging 1.00
R3888:Lct UTSW 1 128,231,963 (GRCm39) missense probably damaging 1.00
R4019:Lct UTSW 1 128,231,963 (GRCm39) missense probably damaging 1.00
R4027:Lct UTSW 1 128,212,918 (GRCm39) missense probably benign 0.00
R4226:Lct UTSW 1 128,231,963 (GRCm39) missense probably damaging 1.00
R4409:Lct UTSW 1 128,231,963 (GRCm39) missense probably damaging 1.00
R4514:Lct UTSW 1 128,228,251 (GRCm39) missense probably benign
R4570:Lct UTSW 1 128,227,641 (GRCm39) missense probably benign 0.01
R4776:Lct UTSW 1 128,228,124 (GRCm39) missense probably damaging 0.99
R5001:Lct UTSW 1 128,235,978 (GRCm39) missense probably damaging 0.96
R5021:Lct UTSW 1 128,228,302 (GRCm39) missense probably benign 0.38
R5318:Lct UTSW 1 128,232,109 (GRCm39) missense probably damaging 1.00
R5330:Lct UTSW 1 128,226,266 (GRCm39) missense probably benign 0.06
R5385:Lct UTSW 1 128,239,354 (GRCm39) missense possibly damaging 0.63
R5499:Lct UTSW 1 128,214,414 (GRCm39) missense probably damaging 1.00
R5508:Lct UTSW 1 128,221,868 (GRCm39) missense probably damaging 1.00
R5642:Lct UTSW 1 128,222,969 (GRCm39) missense probably damaging 1.00
R5724:Lct UTSW 1 128,228,073 (GRCm39) missense probably benign
R6026:Lct UTSW 1 128,227,755 (GRCm39) missense probably benign
R6044:Lct UTSW 1 128,235,717 (GRCm39) missense possibly damaging 0.95
R6175:Lct UTSW 1 128,255,451 (GRCm39) missense probably damaging 1.00
R6277:Lct UTSW 1 128,231,974 (GRCm39) missense probably benign 0.01
R6412:Lct UTSW 1 128,255,455 (GRCm39) missense probably benign 0.00
R6480:Lct UTSW 1 128,222,057 (GRCm39) missense probably damaging 1.00
R6526:Lct UTSW 1 128,228,215 (GRCm39) missense probably benign 0.05
R6620:Lct UTSW 1 128,222,809 (GRCm39) critical splice donor site probably null
R7214:Lct UTSW 1 128,228,197 (GRCm39) missense probably benign 0.00
R7308:Lct UTSW 1 128,246,824 (GRCm39) missense probably benign 0.00
R7577:Lct UTSW 1 128,228,469 (GRCm39) missense probably damaging 0.99
R7626:Lct UTSW 1 128,212,932 (GRCm39) missense probably damaging 1.00
R7737:Lct UTSW 1 128,226,430 (GRCm39) missense probably benign 0.12
R7901:Lct UTSW 1 128,216,722 (GRCm39) missense probably benign 0.44
R8033:Lct UTSW 1 128,212,996 (GRCm39) missense probably benign 0.03
R8373:Lct UTSW 1 128,231,577 (GRCm39) missense probably damaging 1.00
R8504:Lct UTSW 1 128,215,306 (GRCm39) missense probably damaging 1.00
R8751:Lct UTSW 1 128,221,534 (GRCm39) missense probably benign 0.18
R8781:Lct UTSW 1 128,215,261 (GRCm39) missense probably damaging 1.00
R8797:Lct UTSW 1 128,231,684 (GRCm39) missense possibly damaging 0.77
R8926:Lct UTSW 1 128,228,148 (GRCm39) missense probably damaging 1.00
R8949:Lct UTSW 1 128,221,929 (GRCm39) missense probably damaging 1.00
R8992:Lct UTSW 1 128,228,299 (GRCm39) missense probably damaging 1.00
R9138:Lct UTSW 1 128,227,894 (GRCm39) missense probably benign 0.03
R9260:Lct UTSW 1 128,227,704 (GRCm39) nonsense probably null
R9416:Lct UTSW 1 128,228,329 (GRCm39) missense possibly damaging 0.74
R9531:Lct UTSW 1 128,235,598 (GRCm39) missense probably benign 0.00
X0052:Lct UTSW 1 128,235,367 (GRCm39) missense probably damaging 1.00
YA93:Lct UTSW 1 128,229,057 (GRCm39) missense probably damaging 1.00
Z1176:Lct UTSW 1 128,215,348 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGGGAGGGAACATCACCATGTCAG -3'
(R):5'- GCCAGCCAGGTTACCCATTACAAAG -3'

Sequencing Primer
(F):5'- GTGTGTACTCACCCTGAGAAG -3'
(R):5'- AGTACTTCTGTCATGGGCACAAC -3'
Posted On 2013-04-16