Incidental Mutation 'R3433:Lrrtm2'
ID 266317
Institutional Source Beutler Lab
Gene Symbol Lrrtm2
Ensembl Gene ENSMUSG00000071862
Gene Name leucine rich repeat transmembrane neuronal 2
Synonyms C630011A14Rik
MMRRC Submission 040651-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3433 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 35342056-35348077 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 35346950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 117 (S117R)
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 probably damaging
Transcript: ENSMUST00000091636
AA Change: S117R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089225
Gene: ENSMUSG00000071862
AA Change: S117R

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
Meta Mutation Damage Score 0.5802 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T A 7: 119,893,455 (GRCm39) W1302R probably damaging Het
Abcf1 A G 17: 36,269,109 (GRCm39) Y689H probably benign Het
Adamtsl5 T C 10: 80,178,725 (GRCm39) T218A probably benign Het
Ahnak G T 19: 8,987,358 (GRCm39) V2881L probably benign Het
Atp6v1b1 C A 6: 83,720,074 (GRCm39) T3K possibly damaging Het
Atp8b5 A T 4: 43,372,697 (GRCm39) R1112S probably benign Het
Carmil3 A G 14: 55,745,151 (GRCm39) D1331G probably benign Het
Catsperg2 A G 7: 29,400,643 (GRCm39) F696S possibly damaging Het
Cd33 T C 7: 43,179,331 (GRCm39) T273A probably benign Het
Cenpf C T 1: 189,392,146 (GRCm39) C562Y probably damaging Het
Cep192 A G 18: 67,967,963 (GRCm39) R816G probably benign Het
Cnot11 G A 1: 39,584,268 (GRCm39) probably null Het
Col18a1 A G 10: 76,932,102 (GRCm39) L329P unknown Het
Dnah9 T C 11: 65,965,938 (GRCm39) M1693V possibly damaging Het
Fbxo41 A G 6: 85,454,613 (GRCm39) I701T probably damaging Het
Figla G T 6: 85,994,411 (GRCm39) R62L probably damaging Het
Gca T G 2: 62,520,318 (GRCm39) S159R probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm10845 C T 14: 80,100,851 (GRCm39) noncoding transcript Het
Gm5114 T C 7: 39,058,621 (GRCm39) K333E probably benign Het
Ift140 T C 17: 25,255,282 (GRCm39) I466T probably benign Het
Il6st A G 13: 112,640,365 (GRCm39) K653E probably damaging Het
Kansl2 A G 15: 98,426,742 (GRCm39) probably null Het
Kcnh7 T C 2: 62,552,261 (GRCm39) D910G probably benign Het
Leng8 C A 7: 4,145,131 (GRCm39) T177K probably benign Het
Megf8 G T 7: 25,059,549 (GRCm39) A2285S probably benign Het
Meiob T C 17: 25,035,571 (GRCm39) probably benign Het
Myo18a G T 11: 77,708,870 (GRCm39) probably null Het
Nars1 A T 18: 64,642,374 (GRCm39) M156K probably damaging Het
Ndor1 A G 2: 25,137,823 (GRCm39) S499P possibly damaging Het
Or2a57 A T 6: 43,212,607 (GRCm39) I22F probably damaging Het
Or2r11 G A 6: 42,437,888 (GRCm39) H22Y probably benign Het
Or4a78 T C 2: 89,497,577 (GRCm39) I218V probably benign Het
Pcdh15 T G 10: 74,467,331 (GRCm39) S1715A probably benign Het
Ptprd C A 4: 76,004,248 (GRCm39) probably null Het
Ros1 A G 10: 51,967,204 (GRCm39) Y1668H probably benign Het
Rrbp1 A G 2: 143,794,200 (GRCm39) probably benign Het
Rtn4rl2 T C 2: 84,702,444 (GRCm39) Y376C probably damaging Het
Seh1l A C 18: 67,926,222 (GRCm39) K358T probably benign Het
Sema3e A T 5: 14,302,728 (GRCm39) Y751F probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Spred2 G T 11: 19,948,277 (GRCm39) E91* probably null Het
Sspo A T 6: 48,452,885 (GRCm39) probably null Het
Tcaf1 A G 6: 42,663,508 (GRCm39) V124A probably damaging Het
Tnks1bp1 T C 2: 84,901,360 (GRCm39) probably benign Het
Txndc11 T C 16: 10,906,052 (GRCm39) T493A probably benign Het
Usp17lb T A 7: 104,490,855 (GRCm39) Q23L possibly damaging Het
Vgf T C 5: 137,059,873 (GRCm39) F12L probably benign Het
Zfp13 G A 17: 23,795,602 (GRCm39) T323I probably 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
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
R7584:Lrrtm2 UTSW 18 35,345,818 (GRCm39) missense possibly damaging 0.75
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'- AAACGGTTTGTGCTCAGATCC -3'
(R):5'- AGACAAGGGTTCTTTGGGTC -3'

Sequencing Primer
(F):5'- CGGTTTGTGCTCAGATCCAGAAAC -3'
(R):5'- GTCTGTCCCTGAGGCACAATC -3'
Posted On 2015-02-18