Incidental Mutation 'R4373:Lrtm2'
ID 326061
Institutional Source Beutler Lab
Gene Symbol Lrtm2
Ensembl Gene ENSMUSG00000055003
Gene Name leucine-rich repeats and transmembrane domains 2
Synonyms
MMRRC Submission 041675-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R4373 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 119292094-119307727 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119297489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 184 (F184S)
Ref Sequence ENSEMBL: ENSMUSP00000126661 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037434] [ENSMUST00000068351] [ENSMUST00000112756] [ENSMUST00000124192] [ENSMUST00000168793] [ENSMUST00000186622]
AlphaFold Q8BGX3
Predicted Effect probably benign
Transcript: ENSMUST00000037434
SMART Domains Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460

DomainStartEndE-ValueType
Blast:WNT1 79 144 1e-13 BLAST
Pfam:VWA_N 155 271 7.3e-40 PFAM
VWA 296 481 4.37e-14 SMART
Pfam:Cache_1 494 586 1.1e-24 PFAM
low complexity region 837 849 N/A INTRINSIC
low complexity region 975 984 N/A INTRINSIC
low complexity region 1000 1011 N/A INTRINSIC
low complexity region 1120 1143 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000068351
AA Change: F184S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063882
Gene: ENSMUSG00000055003
AA Change: F184S

DomainStartEndE-ValueType
LRRNT 38 72 5.22e-8 SMART
LRR 71 90 1.58e2 SMART
LRR_TYP 91 114 2.43e-4 SMART
LRR_TYP 115 138 7.78e-3 SMART
LRR 140 162 5.72e-1 SMART
LRR 163 186 3.78e-1 SMART
LRRCT 198 251 3.1e-7 SMART
low complexity region 271 290 N/A INTRINSIC
transmembrane domain 312 334 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112756
AA Change: F184S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108376
Gene: ENSMUSG00000055003
AA Change: F184S

DomainStartEndE-ValueType
LRRNT 38 72 5.22e-8 SMART
LRR 71 90 1.58e2 SMART
LRR_TYP 91 114 2.43e-4 SMART
LRR_TYP 115 138 7.78e-3 SMART
LRR 140 162 5.72e-1 SMART
LRR 163 186 3.78e-1 SMART
LRRCT 198 251 3.1e-7 SMART
low complexity region 271 290 N/A INTRINSIC
transmembrane domain 312 334 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124192
Predicted Effect probably damaging
Transcript: ENSMUST00000168793
AA Change: F184S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126661
Gene: ENSMUSG00000055003
AA Change: F184S

DomainStartEndE-ValueType
LRRNT 38 72 5.22e-8 SMART
LRR 71 90 1.58e2 SMART
LRR_TYP 91 114 2.43e-4 SMART
LRR_TYP 115 138 7.78e-3 SMART
LRR 140 162 5.72e-1 SMART
LRR 163 186 3.78e-1 SMART
LRRCT 198 251 3.1e-7 SMART
low complexity region 271 290 N/A INTRINSIC
transmembrane domain 312 334 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186622
SMART Domains Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460

DomainStartEndE-ValueType
Blast:WNT1 79 144 1e-13 BLAST
Pfam:VWA_N 155 271 6.4e-44 PFAM
VWA 296 481 2.7e-16 SMART
Pfam:Cache_1 494 559 1.1e-7 PFAM
low complexity region 812 824 N/A INTRINSIC
low complexity region 950 959 N/A INTRINSIC
low complexity region 975 986 N/A INTRINSIC
low complexity region 1095 1118 N/A INTRINSIC
Meta Mutation Damage Score 0.7747 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 98% (54/55)
Allele List at MGI

All alleles(5) : Targeted, other(2) Gene trapped(3)

Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck5 A G 15: 76,478,535 (GRCm39) probably benign Het
Akr1b1 A C 6: 34,281,202 (GRCm39) probably benign Het
Armh4 T A 14: 50,007,893 (GRCm39) T527S probably damaging Het
Asns A T 6: 7,677,978 (GRCm39) S367T probably damaging Het
BC034090 T C 1: 155,101,904 (GRCm39) N120S probably benign Het
Bub1 A T 2: 127,647,156 (GRCm39) probably benign Het
Csf1 T A 3: 107,664,055 (GRCm39) T38S probably damaging Het
Ctsz T C 2: 174,270,378 (GRCm39) E268G possibly damaging Het
Dach1 G A 14: 98,065,186 (GRCm39) T685I possibly damaging Het
Dclre1a A G 19: 56,533,874 (GRCm39) L240S probably benign Het
Ercc1 G A 7: 19,081,057 (GRCm39) probably benign Het
Esam C T 9: 37,445,492 (GRCm39) T71I probably benign Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Gde1 A G 7: 118,297,781 (GRCm39) L35P possibly damaging Het
Gm10382 A G 5: 125,466,647 (GRCm39) probably benign Het
H2-M10.6 T C 17: 37,123,958 (GRCm39) Y141H probably damaging Het
Hk1 C A 10: 62,151,319 (GRCm39) K10N probably damaging Het
Lamc3 A G 2: 31,788,244 (GRCm39) K135E probably damaging Het
Marchf11 A G 15: 26,309,532 (GRCm39) E62G probably damaging Het
Mtcl1 T A 17: 66,687,074 (GRCm39) T611S probably benign Het
Myc A T 15: 61,861,513 (GRCm39) H373L probably damaging Het
Myh6 T A 14: 55,199,565 (GRCm39) I249F probably damaging Het
Naaa T C 5: 92,426,002 (GRCm39) probably benign Het
Nfib A G 4: 82,241,895 (GRCm39) V432A probably damaging Het
Nmt1 A G 11: 102,934,026 (GRCm39) K55R probably damaging Het
Opa3 C T 7: 18,978,699 (GRCm39) R55W probably damaging Het
Or4c122 T C 2: 89,079,589 (GRCm39) R150G possibly damaging Het
Pfn4 T A 12: 4,820,182 (GRCm39) D10E probably damaging Het
Pld5 T A 1: 175,967,583 (GRCm39) I91F probably damaging Het
Plec A C 15: 76,067,317 (GRCm39) S1350A probably damaging Het
Polq G T 16: 36,833,543 (GRCm39) V79F probably damaging Het
Ppp1r16b T C 2: 158,603,685 (GRCm39) Y537H probably damaging Het
Prdm8 T C 5: 98,334,367 (GRCm39) S645P probably damaging Het
Rgs1 T C 1: 144,123,644 (GRCm39) T94A probably benign Het
Rpl11 G A 4: 135,778,454 (GRCm39) probably benign Het
Sanbr A T 11: 23,565,265 (GRCm39) probably null Het
Scamp3 G A 3: 89,089,234 (GRCm39) probably null Het
Sgsm1 TTTTATATT TTT 5: 113,405,989 (GRCm39) probably benign Het
Sirpb1b A T 3: 15,613,821 (GRCm39) I87K probably damaging Het
Slc14a2 G A 18: 78,250,283 (GRCm39) R62C probably damaging Het
Stat4 T C 1: 52,111,100 (GRCm39) probably null Het
Tex9 A T 9: 72,387,877 (GRCm39) probably null Het
Tsku T C 7: 98,002,038 (GRCm39) T98A probably benign Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Vmn2r116 A C 17: 23,620,395 (GRCm39) I710L probably benign Het
Vmn2r16 A T 5: 109,511,667 (GRCm39) I625F probably damaging Het
Xpo4 G A 14: 57,828,479 (GRCm39) Q794* probably null Het
Zfp112 T A 7: 23,824,473 (GRCm39) I147N probably damaging Het
Zmiz1 T C 14: 25,636,434 (GRCm39) S140P probably damaging Het
Other mutations in Lrtm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01089:Lrtm2 APN 6 119,297,753 (GRCm39) missense possibly damaging 0.91
IGL02619:Lrtm2 APN 6 119,294,199 (GRCm39) missense probably damaging 1.00
IGL02694:Lrtm2 APN 6 119,297,846 (GRCm39) missense possibly damaging 0.80
1mM(1):Lrtm2 UTSW 6 119,294,252 (GRCm39) missense probably damaging 0.99
R0458:Lrtm2 UTSW 6 119,294,229 (GRCm39) missense probably damaging 1.00
R1183:Lrtm2 UTSW 6 119,297,846 (GRCm39) missense probably benign 0.02
R1502:Lrtm2 UTSW 6 119,294,235 (GRCm39) missense probably benign 0.02
R3801:Lrtm2 UTSW 6 119,294,444 (GRCm39) missense probably damaging 1.00
R5126:Lrtm2 UTSW 6 119,294,400 (GRCm39) missense probably benign 0.04
R6366:Lrtm2 UTSW 6 119,294,238 (GRCm39) missense probably damaging 0.99
R7177:Lrtm2 UTSW 6 119,294,113 (GRCm39) missense probably damaging 0.99
R7442:Lrtm2 UTSW 6 119,294,392 (GRCm39) missense probably damaging 0.99
R7448:Lrtm2 UTSW 6 119,297,784 (GRCm39) missense probably benign 0.00
R7921:Lrtm2 UTSW 6 119,294,328 (GRCm39) missense possibly damaging 0.94
R7936:Lrtm2 UTSW 6 119,297,394 (GRCm39) missense probably benign 0.01
R8204:Lrtm2 UTSW 6 119,294,369 (GRCm39) missense probably benign 0.03
R8239:Lrtm2 UTSW 6 119,297,778 (GRCm39) missense probably damaging 0.99
R8364:Lrtm2 UTSW 6 119,294,259 (GRCm39) missense probably benign 0.14
R8415:Lrtm2 UTSW 6 119,294,458 (GRCm39) missense probably damaging 1.00
R8823:Lrtm2 UTSW 6 119,294,193 (GRCm39) missense probably damaging 1.00
R9014:Lrtm2 UTSW 6 119,294,219 (GRCm39) missense probably damaging 1.00
R9183:Lrtm2 UTSW 6 119,294,384 (GRCm39) missense probably damaging 1.00
R9290:Lrtm2 UTSW 6 119,297,792 (GRCm39) missense probably damaging 1.00
R9329:Lrtm2 UTSW 6 119,297,412 (GRCm39) nonsense probably null
R9342:Lrtm2 UTSW 6 119,297,934 (GRCm39) missense probably benign
R9390:Lrtm2 UTSW 6 119,297,948 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTCCTCTGACTGCAGGAATTG -3'
(R):5'- CAGCTTCGGAATAACAGCATCAG -3'

Sequencing Primer
(F):5'- CTCTGACTGCAGGAATTGGTGATG -3'
(R):5'- TAACAGCATCAGGACCCTGG -3'
Posted On 2015-07-06