Incidental Mutation 'R7214:Lct'
ID 561264
Institutional Source Beutler Lab
Gene Symbol Lct
Ensembl Gene ENSMUSG00000026354
Gene Name lactase
Synonyms LPH, LOC226413, Lphl
MMRRC Submission 045286-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7214 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 128212493-128256055 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 128228197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 1099 (V1099L)
Ref Sequence ENSEMBL: ENSMUSP00000073190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073490]
AlphaFold F8VPT3
Predicted Effect probably benign
Transcript: ENSMUST00000073490
AA Change: V1099L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000073190
Gene: ENSMUSG00000026354
AA Change: V1099L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg5 C T 8: 95,660,646 (GRCm39) T95I Het
Arap2 C T 5: 62,906,681 (GRCm39) V113I probably benign Het
Atraid C T 5: 31,209,590 (GRCm39) Q85* probably null Het
Bcdin3d T C 15: 99,368,344 (GRCm39) D285G probably benign Het
Bmal1 T A 7: 112,898,610 (GRCm39) I346K probably benign Het
Carmil3 T C 14: 55,736,069 (GRCm39) W604R probably damaging Het
Ccl6 C T 11: 83,480,582 (GRCm39) probably null Het
Cct4 C T 11: 22,940,616 (GRCm39) probably benign Het
Cd2ap C T 17: 43,156,285 (GRCm39) R84Q possibly damaging Het
Cdt1 T A 8: 123,295,012 (GRCm39) probably null Het
Cln3 C T 7: 126,181,942 (GRCm39) G40D probably damaging Het
Crlf3 T C 11: 79,955,216 (GRCm39) S47G possibly damaging Het
Csrp3 T C 7: 48,480,385 (GRCm39) K193R probably benign Het
Cxcl3 A C 5: 90,934,219 (GRCm39) E33A probably damaging Het
Cyp11b1 T C 15: 74,708,708 (GRCm39) D362G probably benign Het
Dnah2 T C 11: 69,321,935 (GRCm39) D3795G probably damaging Het
Dnah3 G A 7: 119,521,965 (GRCm39) A4076V probably damaging Het
Dnaja3 T A 16: 4,519,046 (GRCm39) I380N possibly damaging Het
Dock10 T A 1: 80,546,246 (GRCm39) H785L probably benign Het
Dop1b T G 16: 93,607,023 (GRCm39) F2226V possibly damaging Het
Dscaml1 A T 9: 45,581,437 (GRCm39) I419F probably benign Het
Dyrk4 T A 6: 126,862,200 (GRCm39) I431F probably benign Het
Endog C T 2: 30,062,902 (GRCm39) R181C probably damaging Het
Fam90a1a A T 8: 22,453,641 (GRCm39) Y332F probably benign Het
Fastkd3 T C 13: 68,737,499 (GRCm39) I588T probably benign Het
Galnt9 G A 5: 110,737,694 (GRCm39) V217I probably benign Het
Gm973 A T 1: 59,601,888 (GRCm39) R501* probably null Het
Gnptab C T 10: 88,215,019 (GRCm39) probably benign Het
Gpn1 T C 5: 31,660,761 (GRCm39) F184S probably damaging Het
Imp3 G T 9: 56,845,007 (GRCm39) V73L probably benign Het
Ipo11 T C 13: 107,032,365 (GRCm39) D259G probably null Het
Jag1 T C 2: 136,948,802 (GRCm39) S142G probably benign Het
Klhl5 A T 5: 65,289,098 (GRCm39) E120V probably benign Het
Lrba G C 3: 86,235,633 (GRCm39) W912C probably damaging Het
Lss C T 10: 76,383,305 (GRCm39) T535I probably damaging Het
Mcts2 T C 2: 152,529,297 (GRCm39) I36T probably benign Het
Meikin T A 11: 54,302,738 (GRCm39) N383K probably benign Het
Myo1g T C 11: 6,461,055 (GRCm39) Y663C probably damaging Het
Nadk2 T A 15: 9,108,342 (GRCm39) M419K probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nfat5 T C 8: 108,020,515 (GRCm39) S20P probably damaging Het
Nlrp1a C T 11: 71,014,119 (GRCm39) C377Y probably damaging Het
Nlrp9a T C 7: 26,250,463 (GRCm39) V76A probably damaging Het
Nrap C A 19: 56,366,567 (GRCm39) A341S probably benign Het
Ntng2 T C 2: 29,117,732 (GRCm39) S239G probably damaging Het
Nup188 T A 2: 30,197,566 (GRCm39) C207S possibly damaging Het
Or10a4 T C 7: 106,697,619 (GRCm39) *316R probably null Het
Or10ak7 T A 4: 118,791,146 (GRCm39) I300F possibly damaging Het
Or1j17 T C 2: 36,578,107 (GRCm39) I31T probably benign Het
Or2ag1 T C 7: 106,473,474 (GRCm39) probably benign Het
Or5b118 T A 19: 13,448,337 (GRCm39) M1K probably null Het
Or8c13 A C 9: 38,091,318 (GRCm39) V267G probably damaging Het
Or8k31-ps1 C T 2: 86,356,150 (GRCm39) V124I probably damaging Het
Pcdhgb2 C A 18: 37,823,159 (GRCm39) A50E probably damaging Het
Pgap1 A T 1: 54,582,220 (GRCm39) M209K possibly damaging Het
Plbd1 T A 6: 136,589,829 (GRCm39) D463V probably damaging Het
Plcg2 T A 8: 118,310,288 (GRCm39) I380N probably damaging Het
Pnpt1 T C 11: 29,087,285 (GRCm39) W184R probably damaging Het
Pptc7 G A 5: 122,451,840 (GRCm39) V202I probably benign Het
Prpf6 C T 2: 181,282,389 (GRCm39) A510V probably damaging Het
Prr5l T C 2: 101,559,777 (GRCm39) Y235C probably benign Het
Ptprk T C 10: 28,450,905 (GRCm39) V1022A probably benign Het
Rbl2 T C 8: 91,810,057 (GRCm39) probably null Het
Rmnd1 T C 10: 4,360,753 (GRCm39) K348E probably benign Het
Rsf1 CGGCGGC CGGCGGCGGGGGCGGC 7: 97,229,136 (GRCm39) probably benign Het
Sacs T A 14: 61,429,241 (GRCm39) N433K probably benign Het
Scyl1 T C 19: 5,810,057 (GRCm39) T590A probably benign Het
Sdhd A G 9: 50,508,533 (GRCm39) V111A possibly damaging Het
Sec24b G T 3: 129,827,509 (GRCm39) P330Q probably benign Het
Serpinb6d C T 13: 33,848,128 (GRCm39) P31S probably damaging Het
Slc26a9 A T 1: 131,687,211 (GRCm39) R457W probably damaging Het
Slc5a8 G A 10: 88,755,364 (GRCm39) M490I probably benign Het
Slx4 A G 16: 3,806,844 (GRCm39) I533T probably benign Het
Slx4ip T A 2: 136,888,650 (GRCm39) F110L probably benign Het
Smchd1 T C 17: 71,652,359 (GRCm39) R2000G probably benign Het
Snx8 T C 5: 140,346,008 (GRCm39) E75G possibly damaging Het
Stab2 C A 10: 86,735,705 (GRCm39) C1292F probably damaging Het
Swt1 A T 1: 151,270,364 (GRCm39) M617K possibly damaging Het
Thoc2l A G 5: 104,670,229 (GRCm39) T1584A probably benign Het
Tiam2 T A 17: 3,568,687 (GRCm39) I1611N possibly damaging Het
Tmem63b T G 17: 45,972,748 (GRCm39) N682T probably benign Het
Trio C T 15: 27,871,273 (GRCm39) V674M probably damaging Het
Trpc3 G A 3: 36,704,286 (GRCm39) T557M possibly damaging Het
Vac14 T G 8: 111,397,674 (GRCm39) L463R probably damaging Het
Vmn2r43 C T 7: 8,256,379 (GRCm39) probably null Het
Wdr49 A T 3: 75,265,751 (GRCm39) Y232N possibly damaging Het
Wdr90 T C 17: 26,064,367 (GRCm39) M1835V probably benign Het
Xpc T C 6: 91,469,320 (GRCm39) E809G probably damaging Het
Zfhx3 A T 8: 109,675,493 (GRCm39) Q2181L probably damaging Het
Zfp442 T C 2: 150,251,201 (GRCm39) T234A probably benign Het
Zfp764 A T 7: 127,004,450 (GRCm39) M227K probably benign Het
Zfp764l1 A G 7: 126,990,695 (GRCm39) S431P probably benign Het
Zfp957 A G 14: 79,450,750 (GRCm39) S350P unknown Het
Zscan29 T A 2: 120,999,761 (GRCm39) K147* probably null 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
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
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'- GGTTAAACTGCAGCATCCG -3'
(R):5'- CACTCTTTCACTGGGACCTG -3'

Sequencing Primer
(F):5'- GTTAAACTGCAGCATCCGGTCAG -3'
(R):5'- AGGCCCTCCAGGATATTGG -3'
Posted On 2019-06-26