Incidental Mutation 'R9152:Lrit2'
ID 695113
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 068939-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R9152 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 36789886-36795700 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 36794187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 417 (T417I)
Ref Sequence ENSEMBL: ENSMUSP00000056642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057176]
AlphaFold Q6PFC5
Predicted Effect probably damaging
Transcript: ENSMUST00000057176
AA Change: T417I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056642
Gene: ENSMUSG00000043418
AA Change: T417I

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: 98.9%
Validation Efficiency 98% (44/45)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 C A 13: 104,613,275 (GRCm39) R1009S probably benign Het
Akap13 T A 7: 75,261,033 (GRCm39) I1219K probably damaging Het
Ap3b1 T C 13: 94,609,439 (GRCm39) probably null Het
Ap3b1 T A 13: 94,630,239 (GRCm39) D831E unknown Het
Arsa G A 15: 89,359,995 (GRCm39) probably benign Het
Clrn2 T C 5: 45,621,254 (GRCm39) I216T probably benign Het
Cspg4 A G 9: 56,795,463 (GRCm39) K1066R probably benign Het
Cul4a T C 8: 13,155,799 (GRCm39) M15T probably benign Het
Defb38 C T 8: 19,076,558 (GRCm39) probably benign Het
Dnah9 T C 11: 66,021,457 (GRCm39) D323G probably damaging Het
Dsg1c T A 18: 20,416,329 (GRCm39) D743E probably benign Het
Eif1ad11 T C 12: 87,993,946 (GRCm39) L58P probably damaging Het
Elf1 T C 14: 79,808,352 (GRCm39) L268P probably damaging Het
Helq G T 5: 100,918,325 (GRCm39) A863D probably benign Het
Hfm1 T A 5: 106,989,611 (GRCm39) R1368S probably benign Het
Hspg2 G A 4: 137,249,876 (GRCm39) G1379E possibly damaging Het
Kcnq5 A T 1: 21,539,692 (GRCm39) probably null Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Macroh2a1 CTTACCTCCAGCT C 13: 56,232,004 (GRCm39) probably null Het
Mgat2 G A 12: 69,232,497 (GRCm39) W357* probably null Het
Mlkl A G 8: 112,046,403 (GRCm39) L290P probably damaging Het
Or1j11 T A 2: 36,311,439 (GRCm39) S10T possibly damaging Het
Or2k2 T C 4: 58,785,114 (GRCm39) I203V probably benign Het
Or7g32 A T 9: 19,408,448 (GRCm39) I135F probably damaging Het
Pcnx1 T C 12: 82,022,589 (GRCm39) V853A Het
Pex19 GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC 1: 171,956,150 (GRCm39) probably null Het
Pik3c2a G A 7: 116,017,004 (GRCm39) S251L probably benign Het
Prkch T C 12: 73,738,418 (GRCm39) M175T possibly damaging Het
Psg22 A T 7: 18,460,646 (GRCm39) Q425L probably damaging Het
Qpctl A G 7: 18,883,025 (GRCm39) L29P probably damaging Het
Ranbp10 A T 8: 106,499,140 (GRCm39) L549M probably benign Het
Rbbp6 A G 7: 122,600,697 (GRCm39) E1568G unknown Het
Rrh A T 3: 129,606,903 (GRCm39) D173E probably benign Het
Scart2 A T 7: 139,877,256 (GRCm39) N857I possibly damaging Het
Selplg A G 5: 113,957,467 (GRCm39) S280P probably benign Het
Septin11 T C 5: 93,287,329 (GRCm39) S17P probably benign Het
Stard9 T C 2: 120,529,068 (GRCm39) V1775A probably damaging Het
Tep1 A C 14: 51,104,162 (GRCm39) V244G probably benign Het
Tex24 A C 8: 27,835,379 (GRCm39) E302D possibly damaging Het
Trav18 A G 14: 54,069,011 (GRCm39) T19A probably benign Het
Trim56 T C 5: 137,143,387 (GRCm39) D43G probably benign Het
Trp53bp1 T C 2: 121,029,056 (GRCm39) T1869A probably damaging Het
Usp22 A G 11: 61,049,201 (GRCm39) C383R probably damaging Het
Zdhhc22 G A 12: 87,035,192 (GRCm39) P87S probably benign 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
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
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'- AGAGGTCAGTGCCTATGTTGAC -3'
(R):5'- ACTGAAGTTGTATGGACCCTG -3'

Sequencing Primer
(F):5'- CAGTGCCTATGTTGACCTACGAG -3'
(R):5'- AAGTTGTATGGACCCTGGGATAC -3'
Posted On 2022-01-20