Incidental Mutation 'IGL02080:Lrit2'
ID 283376
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrit2
Ensembl Gene ENSMUSG00000043418
Gene Name leucine-rich repeat, immunoglobulin-like and transmembrane domains 2
Synonyms A930010E21Rik, Lrrc22
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # IGL02080
Quality Score
Status
Chromosome 14
Chromosomal Location 36789886-36795700 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36791031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 237 (K237E)
Ref Sequence ENSEMBL: ENSMUSP00000056642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057176] [ENSMUST00000120052]
AlphaFold Q6PFC5
Predicted Effect probably damaging
Transcript: ENSMUST00000057176
AA Change: K237E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000056642
Gene: ENSMUSG00000043418
AA Change: K237E

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
Predicted Effect probably benign
Transcript: ENSMUST00000120052
SMART Domains Protein: ENSMUSP00000113964
Gene: ENSMUSG00000041044

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
LRRNT 22 63 1.97e-3 SMART
LRR 82 105 1.03e1 SMART
LRR 106 129 3e1 SMART
LRR 130 152 1.12e1 SMART
LRR_TYP 154 177 4.47e-3 SMART
LRRCT 201 253 2.04e-7 SMART
IGc2 267 336 6.55e-8 SMART
FN3 429 506 2.22e0 SMART
transmembrane domain 531 553 N/A INTRINSIC
low complexity region 581 595 N/A INTRINSIC
low complexity region 597 608 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224104
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cd33 A G 7: 43,178,274 (GRCm39) probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnajc1 A G 2: 18,321,159 (GRCm39) probably benign Het
Dpysl2 A T 14: 67,067,394 (GRCm39) D172E probably benign Het
Fbxw28 A G 9: 109,168,641 (GRCm39) L17P probably damaging Het
Gprin3 C A 6: 59,331,176 (GRCm39) R377M possibly damaging Het
Hectd4 T A 5: 121,504,669 (GRCm39) probably benign Het
Kif26a G T 12: 112,124,000 (GRCm39) A202S probably damaging Het
Lrig2 A T 3: 104,371,440 (GRCm39) D754E probably damaging Het
Med13 A G 11: 86,174,638 (GRCm39) V1729A probably damaging Het
Mon2 A G 10: 122,888,095 (GRCm39) S100P probably damaging Het
Mrnip A G 11: 50,088,502 (GRCm39) D166G probably benign Het
Or1s2 T C 19: 13,758,846 (GRCm39) F288S probably damaging Het
Or4k1 A T 14: 50,377,579 (GRCm39) N172K probably damaging Het
Pkd1l1 T A 11: 8,911,345 (GRCm39) N311Y unknown Het
Ppara A G 15: 85,673,220 (GRCm39) D137G possibly damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Scube2 A G 7: 109,451,685 (GRCm39) F156S probably damaging Het
Setd2 T G 9: 110,376,518 (GRCm39) probably null Het
Slc24a2 A G 4: 87,145,383 (GRCm39) C224R probably damaging Het
Snrnp48 A G 13: 38,400,466 (GRCm39) D191G probably damaging Het
Spo11 A G 2: 172,831,188 (GRCm39) Y266C probably damaging Het
Tmem144 G A 3: 79,730,066 (GRCm39) probably benign Het
Tsacc A T 3: 88,202,696 (GRCm39) probably null Het
Unc5d T C 8: 29,381,316 (GRCm39) probably null Het
Unc79 A G 12: 102,968,234 (GRCm39) I153M probably damaging Het
Vgll4 A G 6: 114,839,759 (GRCm39) C178R probably damaging Het
Vmn2r90 T A 17: 17,933,120 (GRCm39) S227T probably damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R 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
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
R7307:Lrit2 UTSW 14 36,794,156 (GRCm39) missense probably benign 0.00
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
Posted On 2015-04-16