Incidental Mutation 'R0135:Lct'
ID 21850
Institutional Source Beutler Lab
Gene Symbol Lct
Ensembl Gene ENSMUSG00000026354
Gene Name lactase
Synonyms LPH, LOC226413, Lphl
MMRRC Submission 038420-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0135 (G1)
Quality Score 206
Status Validated (trace)
Chromosome 1
Chromosomal Location 128212493-128256055 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 128212860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 1931 (F1931Y)
Ref Sequence ENSEMBL: ENSMUSP00000073190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073490]
AlphaFold F8VPT3
Predicted Effect probably damaging
Transcript: ENSMUST00000073490
AA Change: F1931Y

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000073190
Gene: ENSMUSG00000026354
AA Change: F1931Y

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 noncoding transcript
Transcript: ENSMUST00000162067
Meta Mutation Damage Score 0.0816 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.6%
Validation Efficiency 100% (80/80)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik A G 16: 90,852,515 (GRCm39) F207S probably damaging Het
Abhd8 T A 8: 71,910,718 (GRCm39) K363N probably benign Het
Adam11 T A 11: 102,667,399 (GRCm39) V653E probably damaging Het
Adam18 T C 8: 25,155,558 (GRCm39) S154G possibly damaging Het
Adamts1 T C 16: 85,595,591 (GRCm39) probably benign Het
Afm G T 5: 90,698,181 (GRCm39) V528L probably benign Het
Alox12b C T 11: 69,053,574 (GRCm39) H145Y probably benign Het
Ankmy2 C A 12: 36,220,434 (GRCm39) probably benign Het
Aox3 G A 1: 58,164,247 (GRCm39) probably benign Het
Arhgap28 T C 17: 68,171,583 (GRCm39) D396G probably damaging Het
B430203G13Rik T C 12: 17,974,489 (GRCm39) noncoding transcript Het
Bean1 C T 8: 104,943,807 (GRCm39) P121S probably damaging Het
Bok T C 1: 93,614,229 (GRCm39) S21P probably damaging Het
Brwd1 A C 16: 95,848,304 (GRCm39) N572K probably damaging Het
C5ar1 A T 7: 15,982,864 (GRCm39) V52E probably damaging Het
Cblif G T 19: 11,735,118 (GRCm39) C246F probably damaging Het
Cdr2l C A 11: 115,284,497 (GRCm39) P278T probably damaging Het
Cnga4 T A 7: 105,056,055 (GRCm39) I219N probably damaging Het
Cpne2 C T 8: 95,281,553 (GRCm39) probably benign Het
D430041D05Rik A G 2: 104,085,379 (GRCm39) S1057P possibly damaging Het
Def8 G A 8: 124,183,234 (GRCm39) A278T probably damaging Het
Dgcr2 A G 16: 17,676,306 (GRCm39) S152P probably damaging Het
Dstyk A T 1: 132,390,672 (GRCm39) D828V probably damaging Het
Eml2 T C 7: 18,937,877 (GRCm39) S582P probably damaging Het
Engase T C 11: 118,375,304 (GRCm39) Y359H possibly damaging Het
Fat3 T C 9: 15,918,073 (GRCm39) D1450G probably damaging Het
Fbxw8 A T 5: 118,208,552 (GRCm39) I467N probably damaging Het
Fhdc1 A T 3: 84,352,925 (GRCm39) Y767N probably damaging Het
Flii T C 11: 60,614,204 (GRCm39) D105G probably damaging Het
Gaa C T 11: 119,169,716 (GRCm39) T590I probably benign Het
Gabrr1 T A 4: 33,160,224 (GRCm39) S303T probably damaging Het
Garre1 T C 7: 33,945,382 (GRCm39) I499M probably damaging Het
Glp1r A G 17: 31,143,551 (GRCm39) I196V probably benign Het
Grm6 G A 11: 50,744,050 (GRCm39) E174K probably damaging Het
Helz2 A C 2: 180,874,062 (GRCm39) L2144R probably damaging Het
Itpr1 A T 6: 108,465,443 (GRCm39) probably benign Het
Kcns1 A T 2: 164,006,875 (GRCm39) S363T possibly damaging Het
Kif13a A T 13: 46,947,419 (GRCm39) V855E probably damaging Het
Krt42 T C 11: 100,153,985 (GRCm39) T424A possibly damaging Het
Lrp1b A T 2: 41,159,251 (GRCm39) V1563E probably damaging Het
Lrrc37 C A 11: 103,508,873 (GRCm39) probably benign Het
Lzts2 T C 19: 45,014,626 (GRCm39) probably benign Het
Mamdc4 C T 2: 25,456,932 (GRCm39) R615Q possibly damaging Het
Mei1 C T 15: 81,956,170 (GRCm39) Q133* probably null Het
Mif4gd T C 11: 115,499,291 (GRCm39) E197G probably damaging Het
Ncdn A T 4: 126,640,462 (GRCm39) S544T probably benign Het
Nfat5 C T 8: 108,065,707 (GRCm39) R156W probably damaging Het
Or52a5 T A 7: 103,426,970 (GRCm39) D194V probably damaging Het
Padi6 T C 4: 140,464,663 (GRCm39) T114A probably benign Het
Pigk G T 3: 152,450,343 (GRCm39) probably benign Het
Pkd1 T A 17: 24,784,045 (GRCm39) F197Y possibly damaging Het
Pld5 A T 1: 175,798,155 (GRCm39) F415I probably damaging Het
Pnpla5 A G 15: 83,998,150 (GRCm39) L364P probably damaging Het
Prrc2c G A 1: 162,543,052 (GRCm39) probably benign Het
Rab32 C T 10: 10,426,584 (GRCm39) D121N probably damaging Het
Rab44 A T 17: 29,357,106 (GRCm39) T79S probably benign Het
Reln G T 5: 22,333,647 (GRCm39) N258K probably damaging Het
Retsat A G 6: 72,579,755 (GRCm39) T177A probably damaging Het
Serpinf2 T A 11: 75,327,219 (GRCm39) H236L probably damaging Het
Slc26a6 A T 9: 108,737,794 (GRCm39) probably benign Het
Slitrk1 T A 14: 109,149,061 (GRCm39) E550V probably benign Het
Smarcd3 A T 5: 24,800,497 (GRCm39) probably benign Het
Spdye4a A C 5: 143,210,857 (GRCm39) probably null Het
Susd2 C T 10: 75,474,348 (GRCm39) G572D probably damaging Het
Tcaf3 C T 6: 42,566,692 (GRCm39) R799K probably benign Het
Tg A G 15: 66,566,719 (GRCm39) S1256G probably benign Het
Them4 A T 3: 94,230,877 (GRCm39) probably benign Het
Tmem210 C T 2: 25,178,480 (GRCm39) A47V probably damaging Het
Tnfrsf1b A G 4: 144,955,616 (GRCm39) Y47H probably benign Het
Tnik T G 3: 28,661,394 (GRCm39) N598K possibly damaging Het
Ttc3 A G 16: 94,263,127 (GRCm39) N1498D possibly damaging Het
Ttll4 C A 1: 74,719,087 (GRCm39) H313N possibly damaging Het
Vipr2 A G 12: 116,106,447 (GRCm39) I348V probably benign Het
Vps13a A G 19: 16,758,129 (GRCm39) V2A probably damaging Het
Vps72 G A 3: 95,026,508 (GRCm39) R151K probably damaging Het
Zfp106 A G 2: 120,350,968 (GRCm39) V1561A probably damaging Het
Zfp658 C A 7: 43,223,019 (GRCm39) Y431* probably null Het
Zkscan2 T C 7: 123,079,864 (GRCm39) K698E possibly 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
R0145:Lct UTSW 1 128,255,632 (GRCm39) missense probably benign 0.00
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'- AGGCAGTTCAGCCTCTGCATTTCC -3'
(R):5'- TAACAGTGCTAGAGCCTGAGCCTC -3'

Sequencing Primer
(F):5'- TGCAGGCTTCTCAGAGTCC -3'
(R):5'- TAGAGCCTGAGCCTCCATTG -3'
Posted On 2013-04-12