Incidental Mutation 'R7584:Lrrtm2'
ID 587001
Institutional Source Beutler Lab
Gene Symbol Lrrtm2
Ensembl Gene ENSMUSG00000071862
Gene Name leucine rich repeat transmembrane neuronal 2
Synonyms C630011A14Rik
MMRRC Submission 045667-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7584 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 35342056-35348077 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35345818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 495 (I495F)
Ref Sequence ENSEMBL: ENSMUSP00000089225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042345] [ENSMUST00000091636]
AlphaFold Q8BGA3
Predicted Effect probably benign
Transcript: ENSMUST00000042345
SMART Domains Protein: ENSMUSP00000049007
Gene: ENSMUSG00000037815

DomainStartEndE-ValueType
Pfam:Vinculin 19 339 2.6e-99 PFAM
Pfam:Vinculin 333 867 3.3e-218 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000091636
AA Change: I495F

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000089225
Gene: ENSMUSG00000071862
AA Change: I495F

DomainStartEndE-ValueType
LRRNT 33 61 2.45e0 SMART
LRR_TYP 84 107 5.14e-3 SMART
LRR_TYP 108 131 3.58e-2 SMART
LRR_TYP 132 155 1.6e-4 SMART
LRR_TYP 156 179 4.24e-4 SMART
LRR 180 203 1.14e0 SMART
LRR 204 224 6.05e0 SMART
LRR 228 251 5.12e1 SMART
LRR 252 275 1.97e2 SMART
LRR 276 299 2.45e0 SMART
Blast:LRRCT 311 360 2e-11 BLAST
transmembrane domain 422 444 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 99% (74/75)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A G 17: 46,626,304 (GRCm39) probably null Het
Actrt3 T C 3: 30,652,356 (GRCm39) K246R probably benign Het
Adam23 T A 1: 63,584,621 (GRCm39) V343D probably damaging Het
Ak2 T C 4: 128,893,005 (GRCm39) S55P probably damaging Het
Ank2 G A 3: 126,739,777 (GRCm39) Q2036* probably null Het
Ano10 A G 9: 122,104,597 (GRCm39) I40T probably benign Het
Aoc2 T A 11: 101,217,005 (GRCm39) C363S possibly damaging Het
Aplp2 A T 9: 31,069,077 (GRCm39) V584E possibly damaging Het
Arhgap32 A T 9: 32,168,263 (GRCm39) T749S probably benign Het
Atm A T 9: 53,424,427 (GRCm39) F625I probably damaging Het
Atr T C 9: 95,824,766 (GRCm39) L2387P probably damaging Het
Barhl1 C T 2: 28,799,803 (GRCm39) G274D probably damaging Het
Bcl2a1a A T 9: 88,839,345 (GRCm39) D81V probably damaging Het
Ccdc63 T G 5: 122,251,267 (GRCm39) D381A possibly damaging Het
Col12a1 A G 9: 79,610,578 (GRCm39) probably null Het
Crat C T 2: 30,294,577 (GRCm39) R497Q probably benign Het
Cyp4b1 T A 4: 115,485,884 (GRCm39) D351V probably damaging Het
D130043K22Rik A G 13: 25,056,353 (GRCm39) S562G probably damaging Het
Dgkb T A 12: 38,189,391 (GRCm39) probably null Het
Dmbt1 C T 7: 130,690,481 (GRCm39) Q905* probably null Het
Dnajc21 A C 15: 10,462,381 (GRCm39) Y81* probably null Het
Dnali1 T C 4: 124,959,331 (GRCm39) T21A probably benign Het
Dpp8 A T 9: 64,986,064 (GRCm39) L851F probably damaging Het
Dpt T C 1: 164,646,477 (GRCm39) Y149H probably benign Het
Ep300 T C 15: 81,512,627 (GRCm39) V983A unknown Het
Faf1 C T 4: 109,783,154 (GRCm39) R549C probably damaging Het
Gcm1 A G 9: 77,971,749 (GRCm39) N230S possibly damaging Het
Gm10803 T A 2: 93,394,513 (GRCm39) I95N probably damaging Het
Hectd4 T A 5: 121,456,798 (GRCm39) I721N possibly damaging Het
Hsp90ab1 T C 17: 45,881,197 (GRCm39) H315R probably damaging Het
Igkv10-95 T A 6: 68,657,740 (GRCm39) S85R possibly damaging Het
Katnip G T 7: 125,469,838 (GRCm39) V1436L probably damaging Het
Kcnq5 T C 1: 21,472,545 (GRCm39) T901A probably benign Het
Kremen1 C T 11: 5,144,964 (GRCm39) V471M possibly damaging Het
Lama2 C A 10: 26,980,257 (GRCm39) D1853Y possibly damaging Het
Lrif1 A G 3: 106,639,217 (GRCm39) T76A probably benign Het
Ltbr G T 6: 125,284,204 (GRCm39) Q413K probably benign Het
Ms4a20 A G 19: 11,087,725 (GRCm39) F69L possibly damaging Het
Myrfl T A 10: 116,664,902 (GRCm39) Y376F probably damaging Het
Nup50l A C 6: 96,142,373 (GRCm39) L224V probably benign Het
Nup98 G T 7: 101,825,596 (GRCm39) N414K probably benign Het
Nynrin A G 14: 56,109,041 (GRCm39) T1383A probably damaging Het
Or4c15 G A 2: 88,760,149 (GRCm39) P170L probably damaging Het
Or5j1 A T 2: 86,879,478 (GRCm39) I34N probably benign Het
Or6c208 T A 10: 129,223,901 (GRCm39) I133N probably damaging Het
Or7g27 C A 9: 19,250,569 (GRCm39) T271K possibly damaging Het
Or8b1d G T 9: 38,558,191 (GRCm39) P210T possibly damaging Het
Pcdhb5 T A 18: 37,455,425 (GRCm39) S602T possibly damaging Het
Sall3 A G 18: 81,017,745 (GRCm39) F61S probably benign Het
Scube1 G T 15: 83,606,088 (GRCm39) C61* probably null Het
Sec31b T C 19: 44,519,995 (GRCm39) probably null Het
Sec31b T C 19: 44,531,762 (GRCm39) D49G probably damaging Het
Skic2 A G 17: 35,060,651 (GRCm39) I822T possibly damaging Het
Slc19a3 C T 1: 83,000,469 (GRCm39) V183M possibly damaging Het
Slc41a2 T C 10: 83,152,653 (GRCm39) probably benign Het
Sphk2 C A 7: 45,361,931 (GRCm39) V169L probably damaging Het
Synpo C A 18: 60,729,349 (GRCm39) R951L probably damaging Het
Tbc1d9b G A 11: 50,061,543 (GRCm39) C1017Y probably damaging Het
Tmtc4 C A 14: 123,215,563 (GRCm39) V28F probably benign Het
Tprkb A G 6: 85,905,809 (GRCm39) I165V probably benign Het
Ttc23l T A 15: 10,533,794 (GRCm39) I250F probably damaging Het
Tut4 T C 4: 108,336,543 (GRCm39) V89A probably benign Het
Ubr3 G A 2: 69,821,847 (GRCm39) V1370I probably damaging Het
Ush2a A G 1: 188,460,306 (GRCm39) probably null Het
Usp9y T C Y: 1,384,451 (GRCm39) Y689C probably damaging Het
Vmn1r56 A T 7: 5,198,895 (GRCm39) Y241N probably damaging Het
Vmn2r6 T C 3: 64,472,683 (GRCm39) T13A probably benign Het
Vmn2r92 T A 17: 18,387,028 (GRCm39) N122K probably benign Het
Vps9d1 A G 8: 123,977,456 (GRCm39) F131S probably damaging Het
Vwa8 A C 14: 79,219,674 (GRCm39) probably null Het
Wfdc16 A T 2: 164,480,547 (GRCm39) probably null Het
Zbtb41 T A 1: 139,351,795 (GRCm39) Y303N probably benign Het
Zbtb5 T C 4: 44,993,678 (GRCm39) T569A probably benign Het
Zfp111 A G 7: 23,898,025 (GRCm39) S530P possibly damaging Het
Other mutations in Lrrtm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Lrrtm2 APN 18 35,346,321 (GRCm39) missense probably benign 0.13
IGL00835:Lrrtm2 APN 18 35,347,292 (GRCm39) missense probably benign 0.03
IGL01097:Lrrtm2 APN 18 35,345,994 (GRCm39) missense probably damaging 1.00
IGL01589:Lrrtm2 APN 18 35,345,851 (GRCm39) missense probably damaging 1.00
IGL02106:Lrrtm2 APN 18 35,345,868 (GRCm39) nonsense probably null
R0149:Lrrtm2 UTSW 18 35,345,985 (GRCm39) missense probably benign 0.28
R0361:Lrrtm2 UTSW 18 35,345,985 (GRCm39) missense probably benign 0.28
R0924:Lrrtm2 UTSW 18 35,346,808 (GRCm39) missense probably damaging 1.00
R1189:Lrrtm2 UTSW 18 35,346,545 (GRCm39) nonsense probably null
R1417:Lrrtm2 UTSW 18 35,347,011 (GRCm39) missense probably damaging 1.00
R1585:Lrrtm2 UTSW 18 35,346,428 (GRCm39) missense possibly damaging 0.86
R3433:Lrrtm2 UTSW 18 35,346,950 (GRCm39) missense probably damaging 1.00
R4019:Lrrtm2 UTSW 18 35,345,923 (GRCm39) missense possibly damaging 0.76
R4540:Lrrtm2 UTSW 18 35,346,199 (GRCm39) missense probably benign 0.29
R4664:Lrrtm2 UTSW 18 35,347,310 (GRCm39) splice site probably null
R4879:Lrrtm2 UTSW 18 35,346,372 (GRCm39) missense probably damaging 0.98
R5797:Lrrtm2 UTSW 18 35,346,759 (GRCm39) missense probably damaging 1.00
R7378:Lrrtm2 UTSW 18 35,346,645 (GRCm39) missense probably damaging 1.00
R7387:Lrrtm2 UTSW 18 35,346,025 (GRCm39) missense probably damaging 1.00
R7391:Lrrtm2 UTSW 18 35,345,818 (GRCm39) missense possibly damaging 0.75
R7408:Lrrtm2 UTSW 18 35,346,688 (GRCm39) missense possibly damaging 0.88
R7629:Lrrtm2 UTSW 18 35,347,310 (GRCm39) splice site probably null
R8105:Lrrtm2 UTSW 18 35,346,510 (GRCm39) missense probably damaging 0.99
R8163:Lrrtm2 UTSW 18 35,346,777 (GRCm39) missense probably damaging 1.00
R8490:Lrrtm2 UTSW 18 35,346,451 (GRCm39) splice site probably null
R8702:Lrrtm2 UTSW 18 35,346,018 (GRCm39) missense probably damaging 1.00
R9513:Lrrtm2 UTSW 18 35,346,687 (GRCm39) missense probably damaging 1.00
R9617:Lrrtm2 UTSW 18 35,346,490 (GRCm39) missense probably benign 0.41
R9725:Lrrtm2 UTSW 18 35,345,788 (GRCm39) missense probably damaging 1.00
Z1176:Lrrtm2 UTSW 18 35,347,712 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TCCACTTGGTTTGGAAAATTAGGC -3'
(R):5'- CTGACAATGCCATCTTTACTCAGAG -3'

Sequencing Primer
(F):5'- AATTAGGCTTAATGTCACCATTGG -3'
(R):5'- CTCAGAGAGTAATTACAGGAACAATG -3'
Posted On 2019-10-24