Incidental Mutation 'IGL01475:Lrit2'
ID88438
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrit2
Ensembl Gene ENSMUSG00000043418
Gene Nameleucine-rich repeat, immunoglobulin-like and transmembrane domains 2
SynonymsA930010E21Rik, Lrrc22
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.088) question?
Stock #IGL01475
Quality Score
Status
Chromosome14
Chromosomal Location37067929-37073743 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 37069094 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 243 (H243Q)
Ref Sequence ENSEMBL: ENSMUSP00000056642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057176] [ENSMUST00000120052]
Predicted Effect probably damaging
Transcript: ENSMUST00000057176
AA Change: H243Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056642
Gene: ENSMUSG00000043418
AA Change: H243Q

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik A T 14: 59,142,803 N15K possibly damaging Het
4833427G06Rik A G 9: 51,100,058 I93T probably benign Het
Adam32 A T 8: 24,872,648 I587K probably damaging Het
Adamtsl4 T C 3: 95,677,533 S942G probably benign Het
Adamtsl5 A G 10: 80,344,916 F104S probably damaging Het
Adgrf5 A G 17: 43,450,354 D980G probably benign Het
Apba1 A T 19: 23,917,586 D462V possibly damaging Het
Arhgef11 T C 3: 87,727,126 probably benign Het
Cd74 T C 18: 60,810,321 probably benign Het
Cdc16 T C 8: 13,781,542 S592P probably benign Het
Cenpj A G 14: 56,565,045 M21T possibly damaging Het
Col28a1 A G 6: 8,103,521 L425S probably damaging Het
Dbt C T 3: 116,520,259 T25I possibly damaging Het
Dguok C A 6: 83,490,570 M98I possibly damaging Het
Dmxl1 T C 18: 49,871,714 L943P probably damaging Het
Eloa G A 4: 136,010,920 S243L probably benign Het
Enkur C A 2: 21,196,719 A52S probably damaging Het
Ezh1 T C 11: 101,192,961 E744G probably damaging Het
Fbxw11 T C 11: 32,722,101 S190P possibly damaging Het
Foxb1 G A 9: 69,759,268 probably benign Het
Gabra5 C T 7: 57,408,684 G439S probably damaging Het
Gtf2h2 A T 13: 100,481,033 V207D probably damaging Het
Krt76 A G 15: 101,888,513 V317A probably benign Het
Lair1 C A 7: 4,009,684 probably benign Het
Mast3 C T 8: 70,779,530 A1268T probably damaging Het
Matn2 G A 15: 34,316,525 M4I possibly damaging Het
Mob1b T A 5: 88,749,643 F137I probably damaging Het
Mreg T C 1: 72,164,166 probably benign Het
Nom1 T C 5: 29,446,274 V684A possibly damaging Het
Pate2 T A 9: 35,669,702 L1Q probably null Het
Pla2r1 T C 2: 60,441,081 probably benign Het
Plxna1 A G 6: 89,354,888 F447L possibly damaging Het
Pno1 A T 11: 17,210,992 I114N probably damaging Het
Ppp1r7 T G 1: 93,360,818 probably benign Het
Pprc1 T A 19: 46,071,529 Y1503N probably benign Het
Rab30 T C 7: 92,835,722 V132A probably damaging Het
Slc15a4 T C 5: 127,601,960 T439A probably benign Het
Slc29a3 A G 10: 60,723,817 V186A possibly damaging Het
Stxbp5l G A 16: 37,345,092 T88I possibly damaging Het
Tarbp1 A G 8: 126,433,962 V1250A probably benign Het
Tcte2 A T 17: 13,717,562 probably benign Het
Trp53bp1 A T 2: 121,270,319 probably null Het
Trpc4 A T 3: 54,266,407 L407F possibly damaging Het
Vmn1r6 T C 6: 57,002,911 F164S probably damaging Het
Zfp579 C A 7: 4,994,744 R56L probably benign Het
Other mutations in Lrit2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Lrit2 APN 14 37071963 missense probably benign 0.31
IGL02080:Lrit2 APN 14 37069074 missense probably damaging 0.99
IGL02141:Lrit2 APN 14 37068074 unclassified probably benign
IGL02479:Lrit2 APN 14 37072278 missense probably damaging 0.99
IGL02715:Lrit2 APN 14 37072548 missense probably benign 0.00
R0114:Lrit2 UTSW 14 37068045 unclassified probably null
R1344:Lrit2 UTSW 14 37068556 missense probably benign 0.32
R1529:Lrit2 UTSW 14 37068827 missense probably benign 0.12
R1641:Lrit2 UTSW 14 37069148 missense probably benign 0.34
R2105:Lrit2 UTSW 14 37071956 missense probably damaging 1.00
R4365:Lrit2 UTSW 14 37072119 missense probably damaging 1.00
R4645:Lrit2 UTSW 14 37072475 missense probably benign
R5226:Lrit2 UTSW 14 37072353 missense probably damaging 1.00
R5377:Lrit2 UTSW 14 37069183 missense possibly damaging 0.59
R5387:Lrit2 UTSW 14 37072259 missense probably damaging 1.00
R5840:Lrit2 UTSW 14 37069005 missense possibly damaging 0.64
R5881:Lrit2 UTSW 14 37072235 missense probably benign 0.02
R6499:Lrit2 UTSW 14 37068810 missense probably damaging 0.98
R6863:Lrit2 UTSW 14 37071944 missense probably damaging 0.99
R7307:Lrit2 UTSW 14 37072199 missense probably benign 0.00
R7316:Lrit2 UTSW 14 37068858 missense probably damaging 1.00
R7491:Lrit2 UTSW 14 37068910 missense possibly damaging 0.83
R7525:Lrit2 UTSW 14 37072493 missense possibly damaging 0.76
R7640:Lrit2 UTSW 14 37072124 missense probably damaging 1.00
Posted On2013-11-18