Incidental Mutation 'IGL01089:Lrtm2'
ID51286
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrtm2
Ensembl Gene ENSMUSG00000055003
Gene Nameleucine-rich repeats and transmembrane domains 2
Synonyms
Accession Numbers

Genbank: NM_172492.3, NM_001172207.1; Ensembl: ENSMUST00000068351

Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #IGL01089
Quality Score
Status
Chromosome6
Chromosomal Location119315133-119330766 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 119320792 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 96 (R96Q)
Ref Sequence ENSEMBL: ENSMUSP00000126661 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037434] [ENSMUST00000068351] [ENSMUST00000112756] [ENSMUST00000124192] [ENSMUST00000168793] [ENSMUST00000186622]
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 possibly damaging
Transcript: ENSMUST00000068351
AA Change: R96Q

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000063882
Gene: ENSMUSG00000055003
AA Change: R96Q

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 possibly damaging
Transcript: ENSMUST00000112756
AA Change: R96Q

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108376
Gene: ENSMUSG00000055003
AA Change: R96Q

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 possibly damaging
Transcript: ENSMUST00000168793
AA Change: R96Q

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126661
Gene: ENSMUSG00000055003
AA Change: R96Q

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016K19Rik A G 11: 76,003,337 E180G possibly damaging Het
Actr8 T C 14: 29,988,335 L353S probably damaging Het
Adgrf2 G A 17: 42,710,158 P592S probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Afap1l2 A C 19: 56,913,411 probably null Het
Asnsd1 G A 1: 53,348,277 P64S probably damaging Het
Bmt2 A G 6: 13,663,271 M76T probably damaging Het
Clca3b A T 3: 144,823,522 V797D probably benign Het
Cog2 T C 8: 124,545,243 S499P probably benign Het
Cyp27a1 A T 1: 74,731,938 Y94F possibly damaging Het
D430042O09Rik A G 7: 125,795,313 E187G probably damaging Het
D630045J12Rik A G 6: 38,136,963 S1765P probably benign Het
Fam149a A G 8: 45,348,527 L519P possibly damaging Het
Fam171a2 G A 11: 102,437,848 A695V possibly damaging Het
Fat1 T A 8: 45,017,857 V1566E probably damaging Het
Flvcr1 T G 1: 191,013,390 N361H probably damaging Het
Gm1110 T C 9: 26,881,860 N540S probably benign Het
Kcns3 T A 12: 11,091,571 T376S possibly damaging Het
Krt32 A G 11: 100,087,779 S150P probably benign Het
Mctp1 A G 13: 77,020,798 E838G probably damaging Het
Mios T C 6: 8,234,363 probably null Het
Olfr338 A T 2: 36,377,166 Y130F probably damaging Het
Phldb1 T A 9: 44,707,887 K167* probably null Het
Pkhd1l1 A G 15: 44,483,869 probably benign Het
Plaa A G 4: 94,574,047 V531A probably benign Het
Psmb2 A G 4: 126,684,206 Y59C probably damaging Het
Ptprg A G 14: 12,215,286 H1091R probably damaging Het
Rbm44 T A 1: 91,168,697 V926D possibly damaging Het
Rgma G T 7: 73,409,714 V189L possibly damaging Het
Sbf2 A T 7: 110,348,962 I1227K probably damaging Het
Slc8a1 T C 17: 81,648,281 T443A probably damaging Het
Slc8a1 A G 17: 81,388,881 V896A probably damaging Het
Taf2 T C 15: 55,016,581 M1120V probably benign Het
Ugt2b34 C T 5: 86,906,326 V199I probably benign Het
Unc5c C A 3: 141,818,202 probably benign Het
Usp37 G A 1: 74,493,046 R63* probably null Het
Other mutations in Lrtm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02619:Lrtm2 APN 6 119317238 missense probably damaging 1.00
IGL02694:Lrtm2 APN 6 119320885 missense possibly damaging 0.80
1mM(1):Lrtm2 UTSW 6 119317291 missense probably damaging 0.99
R0458:Lrtm2 UTSW 6 119317268 missense probably damaging 1.00
R1183:Lrtm2 UTSW 6 119320885 missense probably benign 0.02
R1502:Lrtm2 UTSW 6 119317274 missense probably benign 0.02
R3801:Lrtm2 UTSW 6 119317483 missense probably damaging 1.00
R4373:Lrtm2 UTSW 6 119320528 missense probably damaging 1.00
R5126:Lrtm2 UTSW 6 119317439 missense probably benign 0.04
R6366:Lrtm2 UTSW 6 119317277 missense probably damaging 0.99
R7177:Lrtm2 UTSW 6 119317152 missense probably damaging 0.99
R7442:Lrtm2 UTSW 6 119317431 missense probably damaging 0.99
R7448:Lrtm2 UTSW 6 119320823 missense probably benign 0.00
R7921:Lrtm2 UTSW 6 119317367 missense possibly damaging 0.94
R7936:Lrtm2 UTSW 6 119320433 missense probably benign 0.01
R8204:Lrtm2 UTSW 6 119317408 missense probably benign 0.03
R8239:Lrtm2 UTSW 6 119320817 missense probably damaging 0.99
R8364:Lrtm2 UTSW 6 119317298 missense probably benign 0.14
Posted On2013-06-21