Incidental Mutation 'IGL01594:Lrrn1'
ID91689
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrn1
Ensembl Gene ENSMUSG00000034648
Gene Nameleucine rich repeat protein 1, neuronal
Synonyms2810047E21Rik, NLRR-1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.457) question?
Stock #IGL01594
Quality Score
Status
Chromosome6
Chromosomal Location107529768-107570214 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 107567493 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 84 (I84T)
Ref Sequence ENSEMBL: ENSMUSP00000037096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049285]
Predicted Effect probably damaging
Transcript: ENSMUST00000049285
AA Change: I84T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000037096
Gene: ENSMUSG00000034648
AA Change: I84T

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
LRRNT 31 76 2.89e-1 SMART
LRR 94 117 1.06e1 SMART
LRR 118 141 1.89e-1 SMART
LRR_TYP 142 165 4.3e-5 SMART
LRR 166 189 1.76e-1 SMART
LRR 214 237 4.09e1 SMART
LRR 238 261 1.53e1 SMART
LRR 262 285 2.63e0 SMART
LRR 311 335 1.45e2 SMART
LRR 336 359 4.21e1 SMART
LRRCT 371 423 2.14e-10 SMART
IGc2 438 506 6.34e-15 SMART
FN3 523 605 8.71e-2 SMART
transmembrane domain 631 653 N/A INTRINSIC
low complexity region 690 701 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mutant mice exhibited decreased exploratory activity and the female mutants exhibited an increased anxiety-like response during open field testing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,946,071 probably null Het
Acss1 A T 2: 150,621,530 V618E probably damaging Het
Adgrg6 T C 10: 14,434,340 N774D probably damaging Het
Atp9a A G 2: 168,691,012 V134A probably damaging Het
Csmd3 T A 15: 47,629,239 T3169S probably benign Het
D030068K23Rik T A 8: 109,251,377 Q52L unknown Het
Dnah5 T C 15: 28,311,334 S1820P possibly damaging Het
Fem1c A C 18: 46,506,276 S220A probably benign Het
Gm10305 G A 4: 99,273,177 D108N unknown Het
Gtdc1 A G 2: 44,591,879 probably null Het
Il2ra T C 2: 11,680,396 V181A possibly damaging Het
Map3k1 T A 13: 111,758,189 probably null Het
Mical1 T G 10: 41,480,329 Y293D probably damaging Het
Mpzl1 T C 1: 165,593,592 D266G probably damaging Het
Olfr544 C A 7: 102,485,047 M24I probably benign Het
Pabpc4l A T 3: 46,447,146 V21D probably damaging Het
Prdm10 T C 9: 31,346,853 C525R probably damaging Het
Ptprj C A 2: 90,440,795 probably benign Het
Rgs3 T C 4: 62,619,744 F4S probably damaging Het
Ryr3 G A 2: 112,772,728 T2457I probably damaging Het
Scn3a A G 2: 65,461,431 I1657T probably damaging Het
Sema6a A G 18: 47,248,817 S888P probably damaging Het
Slc37a1 T A 17: 31,319,148 Y148* probably null Het
Tex10 T C 4: 48,469,906 N53S possibly damaging Het
Tyr A T 7: 87,483,814 probably benign Het
Vmn2r100 A G 17: 19,531,233 S513G possibly damaging Het
Other mutations in Lrrn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00834:Lrrn1 APN 6 107568308 missense probably benign 0.06
IGL00949:Lrrn1 APN 6 107569300 missense probably benign 0.15
IGL02814:Lrrn1 APN 6 107567352 missense probably damaging 1.00
IGL02824:Lrrn1 APN 6 107568534 missense possibly damaging 0.57
IGL02931:Lrrn1 APN 6 107567748 missense probably damaging 1.00
R0399:Lrrn1 UTSW 6 107569120 missense probably benign
R1109:Lrrn1 UTSW 6 107567264 missense probably benign
R1620:Lrrn1 UTSW 6 107568366 missense probably damaging 1.00
R1826:Lrrn1 UTSW 6 107567568 missense probably benign 0.05
R1893:Lrrn1 UTSW 6 107568122 missense possibly damaging 0.82
R2327:Lrrn1 UTSW 6 107568833 missense probably benign 0.05
R3684:Lrrn1 UTSW 6 107567949 missense probably benign 0.13
R3757:Lrrn1 UTSW 6 107569208 missense possibly damaging 0.81
R4538:Lrrn1 UTSW 6 107568637 missense probably benign 0.21
R4922:Lrrn1 UTSW 6 107568350 missense probably damaging 1.00
R4946:Lrrn1 UTSW 6 107568890 missense probably benign 0.16
R4970:Lrrn1 UTSW 6 107569344 missense probably benign 0.06
R4977:Lrrn1 UTSW 6 107568707 missense probably benign
R5121:Lrrn1 UTSW 6 107569207 missense possibly damaging 0.89
R5186:Lrrn1 UTSW 6 107569224 missense probably damaging 1.00
R5625:Lrrn1 UTSW 6 107567354 missense probably damaging 0.99
R5736:Lrrn1 UTSW 6 107567384 missense probably damaging 1.00
R5873:Lrrn1 UTSW 6 107568975 missense probably damaging 0.98
R5949:Lrrn1 UTSW 6 107567504 missense probably benign 0.00
R6046:Lrrn1 UTSW 6 107568527 missense probably benign 0.00
R6370:Lrrn1 UTSW 6 107569224 missense probably damaging 1.00
R7138:Lrrn1 UTSW 6 107568375 missense probably damaging 1.00
R7169:Lrrn1 UTSW 6 107567604 missense probably damaging 1.00
R7413:Lrrn1 UTSW 6 107569122 missense probably benign 0.00
R7449:Lrrn1 UTSW 6 107568521 missense possibly damaging 0.91
R8077:Lrrn1 UTSW 6 107568822 missense probably damaging 0.99
R8288:Lrrn1 UTSW 6 107566994 start gained probably benign
Posted On2013-12-09