Incidental Mutation 'R7307:Lrit2'
ID 567340
Institutional Source Beutler Lab
Gene Symbol Lrit2
Ensembl Gene ENSMUSG00000043418
Gene Name leucine-rich repeat, immunoglobulin-like and transmembrane domains 2
Synonyms A930010E21Rik, Lrrc22
MMRRC Submission 045366-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R7307 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 36789886-36795700 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36794156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 407 (K407E)
Ref Sequence ENSEMBL: ENSMUSP00000056642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057176]
AlphaFold Q6PFC5
Predicted Effect probably benign
Transcript: ENSMUST00000057176
AA Change: K407E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000056642
Gene: ENSMUSG00000043418
AA Change: K407E

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
LRRNT 23 59 7.74e-2 SMART
LRR 78 101 9.96e-1 SMART
LRR_TYP 102 125 8.94e-3 SMART
LRR 126 149 2.03e1 SMART
LRR_TYP 150 173 7.67e-2 SMART
LRRCT 200 251 7.12e-7 SMART
IGc2 265 334 2.05e-9 SMART
FN3 362 443 5.94e0 SMART
transmembrane domain 463 485 N/A INTRINSIC
low complexity region 538 546 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (75/75)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik G A 16: 16,936,259 (GRCm39) P155L probably benign Het
Adamts12 G T 15: 11,217,899 (GRCm39) L285F probably damaging Het
Ankrd6 A T 4: 32,816,949 (GRCm39) Y393N possibly damaging Het
Arhgap45 A G 10: 79,865,016 (GRCm39) Q993R probably benign Het
Arhgef33 G C 17: 80,654,549 (GRCm39) probably null Het
B4galnt3 T C 6: 120,192,392 (GRCm39) D448G probably benign Het
Capn1 C G 19: 6,043,938 (GRCm39) E564D possibly damaging Het
Ccdc85a A G 11: 28,349,384 (GRCm39) S474P probably benign Het
Cdk12 T A 11: 98,140,626 (GRCm39) L1289* probably null Het
Cramp1 A T 17: 25,193,719 (GRCm39) N920K possibly damaging Het
Cubn C T 2: 13,345,143 (GRCm39) S2091N probably damaging Het
Ddx1 A T 12: 13,273,960 (GRCm39) I581N probably damaging Het
Dnm2 A T 9: 21,396,983 (GRCm39) N487Y probably damaging Het
Enc1 A C 13: 97,381,601 (GRCm39) N37T probably damaging Het
Ephb3 T G 16: 21,040,976 (GRCm39) I932S probably benign Het
Frk T A 10: 34,467,934 (GRCm39) M316K probably damaging Het
Gdap2 C T 3: 100,109,349 (GRCm39) R25C unknown Het
Gpat2 T A 2: 127,276,810 (GRCm39) D671E probably damaging Het
Gpr179 C T 11: 97,229,672 (GRCm39) E828K probably benign Het
Greb1l T C 18: 10,538,142 (GRCm39) Y1052H probably damaging Het
Gtf2f1 C T 17: 57,314,833 (GRCm39) S69N probably damaging Het
Hid1 A C 11: 115,239,308 (GRCm39) I785S probably damaging Het
Hmcn2 T C 2: 31,233,093 (GRCm39) I214T probably damaging Het
Hsd3b5 G T 3: 98,527,085 (GRCm39) F120L probably damaging Het
Kif16b C T 2: 142,554,851 (GRCm39) R649Q probably benign Het
Kif17 A T 4: 137,989,954 (GRCm39) E47D probably benign Het
Kmt2b T C 7: 30,279,896 (GRCm39) H1368R probably damaging Het
Kmt2d A T 15: 98,747,299 (GRCm39) S3342T unknown Het
Krt82 A G 15: 101,451,342 (GRCm39) C356R probably damaging Het
Malt1 T A 18: 65,584,640 (GRCm39) H325Q possibly damaging Het
Mccc2 T G 13: 100,125,108 (GRCm39) D187A possibly damaging Het
Mgll T A 6: 88,791,103 (GRCm39) probably null Het
Mindy2 T G 9: 70,518,241 (GRCm39) E449A possibly damaging Het
Muc5b G A 7: 141,396,031 (GRCm39) V96M unknown Het
Nlrp4e A G 7: 23,020,953 (GRCm39) E480G probably benign Het
Nup98 A G 7: 101,784,002 (GRCm39) I1093T probably benign Het
Or13a26 G A 7: 140,285,060 (GRCm39) V299I probably benign Het
Or1j4 G A 2: 36,740,137 (GRCm39) M26I probably benign Het
Or4g7 A T 2: 111,309,105 (GRCm39) probably benign Het
Or52a20 G T 7: 103,366,173 (GRCm39) R124L probably damaging Het
Pcdhb6 A T 18: 37,468,531 (GRCm39) H484L probably benign Het
Phldb1 T C 9: 44,605,344 (GRCm39) T604A possibly damaging Het
Pitpnm3 G T 11: 71,961,790 (GRCm39) A275D probably damaging Het
Polr2a A T 11: 69,638,118 (GRCm39) probably null Het
Polr3a A G 14: 24,510,055 (GRCm39) C960R probably benign Het
Pou6f2 G A 13: 18,414,298 (GRCm39) A159V Het
Pramel11 A C 4: 143,623,345 (GRCm39) Y276* probably null Het
Pramel51 A C 12: 88,148,519 (GRCm39) C32W probably damaging Het
Psmc4 A G 7: 27,742,085 (GRCm39) V303A probably benign Het
Ptdss2 A G 7: 140,731,645 (GRCm39) N151S possibly damaging Het
Ptprk T A 10: 28,465,004 (GRCm39) Y1295* probably null Het
Rbm19 A G 5: 120,324,283 (GRCm39) K881E possibly damaging Het
Rcan2 T A 17: 44,331,993 (GRCm39) Y183* probably null Het
Rnd1 T C 15: 98,568,680 (GRCm39) E166G probably damaging Het
Rnf113a2 T A 12: 84,464,953 (GRCm39) C282S probably damaging Het
S100b G A 10: 76,092,926 (GRCm39) G20R probably benign Het
Sae1 G T 7: 16,102,469 (GRCm39) Y168* probably null Het
Samd9l C A 6: 3,372,600 (GRCm39) G1554* probably null Het
Samhd1 T C 2: 156,976,940 (GRCm39) S55G probably benign Het
Sgsm1 T C 5: 113,421,512 (GRCm39) D525G probably benign Het
Slc28a3 A T 13: 58,710,986 (GRCm39) M512K probably damaging Het
Slc9b2 T A 3: 135,024,151 (GRCm39) N67K probably benign Het
Smarca4 T A 9: 21,550,096 (GRCm39) I402N probably damaging Het
St7l T C 3: 104,796,669 (GRCm39) F261L probably benign Het
Syde2 T A 3: 145,721,553 (GRCm39) V1140D probably damaging Het
Syt6 T A 3: 103,494,788 (GRCm39) I251N probably damaging Het
Taok2 T C 7: 126,465,990 (GRCm39) E916G probably damaging Het
Tecta A G 9: 42,289,288 (GRCm39) S426P probably damaging Het
Thra T C 11: 98,655,134 (GRCm39) I338T probably damaging Het
Trub1 A T 19: 57,461,135 (GRCm39) Y137F probably damaging Het
Vps13b T C 15: 35,841,691 (GRCm39) F2574L probably benign Het
Ythdf3 T C 3: 16,237,664 (GRCm39) S2P possibly damaging Het
Zc3h13 T A 14: 75,567,981 (GRCm39) D1091E probably damaging Het
Zdhhc6 A G 19: 55,301,682 (GRCm39) Y100H probably damaging Het
Other mutations in Lrit2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Lrit2 APN 14 36,793,920 (GRCm39) missense probably benign 0.31
IGL01475:Lrit2 APN 14 36,791,051 (GRCm39) missense probably damaging 1.00
IGL02080:Lrit2 APN 14 36,791,031 (GRCm39) missense probably damaging 0.99
IGL02141:Lrit2 APN 14 36,790,031 (GRCm39) unclassified probably benign
IGL02479:Lrit2 APN 14 36,794,235 (GRCm39) missense probably damaging 0.99
IGL02715:Lrit2 APN 14 36,794,505 (GRCm39) missense probably benign 0.00
R0114:Lrit2 UTSW 14 36,790,002 (GRCm39) splice site probably null
R1344:Lrit2 UTSW 14 36,790,513 (GRCm39) missense probably benign 0.32
R1529:Lrit2 UTSW 14 36,790,784 (GRCm39) missense probably benign 0.12
R1641:Lrit2 UTSW 14 36,791,105 (GRCm39) missense probably benign 0.34
R2105:Lrit2 UTSW 14 36,793,913 (GRCm39) missense probably damaging 1.00
R4365:Lrit2 UTSW 14 36,794,076 (GRCm39) missense probably damaging 1.00
R4645:Lrit2 UTSW 14 36,794,432 (GRCm39) missense probably benign
R5226:Lrit2 UTSW 14 36,794,310 (GRCm39) missense probably damaging 1.00
R5377:Lrit2 UTSW 14 36,791,140 (GRCm39) missense possibly damaging 0.59
R5387:Lrit2 UTSW 14 36,794,216 (GRCm39) missense probably damaging 1.00
R5840:Lrit2 UTSW 14 36,790,962 (GRCm39) missense possibly damaging 0.64
R5881:Lrit2 UTSW 14 36,794,192 (GRCm39) missense probably benign 0.02
R6499:Lrit2 UTSW 14 36,790,767 (GRCm39) missense probably damaging 0.98
R6863:Lrit2 UTSW 14 36,793,901 (GRCm39) missense probably damaging 0.99
R7316:Lrit2 UTSW 14 36,790,815 (GRCm39) missense probably damaging 1.00
R7491:Lrit2 UTSW 14 36,790,867 (GRCm39) missense possibly damaging 0.83
R7525:Lrit2 UTSW 14 36,794,450 (GRCm39) missense possibly damaging 0.76
R7640:Lrit2 UTSW 14 36,794,081 (GRCm39) missense probably damaging 1.00
R8228:Lrit2 UTSW 14 36,791,148 (GRCm39) missense probably damaging 1.00
R8397:Lrit2 UTSW 14 36,791,034 (GRCm39) missense probably damaging 0.98
R8815:Lrit2 UTSW 14 36,794,487 (GRCm39) missense probably benign 0.00
R9099:Lrit2 UTSW 14 36,790,812 (GRCm39) missense possibly damaging 0.90
R9152:Lrit2 UTSW 14 36,794,187 (GRCm39) missense probably damaging 1.00
R9193:Lrit2 UTSW 14 36,794,550 (GRCm39) missense possibly damaging 0.72
R9309:Lrit2 UTSW 14 36,793,848 (GRCm39) missense probably benign 0.03
R9517:Lrit2 UTSW 14 36,794,272 (GRCm39) nonsense probably null
R9670:Lrit2 UTSW 14 36,790,115 (GRCm39) nonsense probably null
R9764:Lrit2 UTSW 14 36,790,936 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGAGCTCCCTTGTCATCTTAC -3'
(R):5'- CTACAGTGACATGCAAGAGGTG -3'

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