Incidental Mutation 'R4719:Lrrn2'
ID 354270
Institutional Source Beutler Lab
Gene Symbol Lrrn2
Ensembl Gene ENSMUSG00000026443
Gene Name leucine rich repeat protein 2, neuronal
Synonyms NLRR-2, 5730406J09Rik
MMRRC Submission 041957-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R4719 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 132808093-132867743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 132866915 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 660 (V660A)
Ref Sequence ENSEMBL: ENSMUSP00000027706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027706]
AlphaFold Q6PHP6
Predicted Effect probably benign
Transcript: ENSMUST00000027706
AA Change: V660A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027706
Gene: ENSMUSG00000026443
AA Change: V660A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
LRRNT 28 73 2.22e-2 SMART
LRR 92 115 3.86e0 SMART
LRR 116 139 1.08e-1 SMART
LRR_TYP 140 163 3.21e-4 SMART
LRR 164 187 1.33e-1 SMART
LRR 188 211 5.89e1 SMART
LRR 212 235 1.66e1 SMART
LRR 236 259 4.98e-1 SMART
LRR 260 283 5.26e0 SMART
LRR 309 333 5.56e0 SMART
LRR 334 357 2.17e-1 SMART
LRRCT 369 421 3.13e-3 SMART
IGc2 436 504 9.99e-13 SMART
FN3 525 607 3.49e0 SMART
transmembrane domain 629 651 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159088
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194934
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 99% (76/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the leucine-rich repeat superfamily. This gene was found to be amplified and overexpressed in malignant gliomas. The encoded protein has homology with other proteins that function as cell-adhesion molecules or as signal transduction receptors and is a candidate for the target gene in the 1q32.1 amplicon in malignant gliomas. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibited numerous neurological abnormalities when compared with controls. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,089,971 (GRCm39) Y971C probably damaging Het
Actr5 T A 2: 158,468,433 (GRCm39) S188T probably damaging Het
Adamtsl4 A G 3: 95,586,896 (GRCm39) probably null Het
Agbl2 A G 2: 90,645,733 (GRCm39) N822S probably benign Het
Ankdd1b T A 13: 96,554,255 (GRCm39) probably benign Het
Arhgef40 C T 14: 52,242,395 (GRCm39) probably benign Het
Art5 A G 7: 101,747,701 (GRCm39) probably null Het
Atpsckmt T G 15: 31,608,243 (GRCm39) V98G probably damaging Het
Cacna1s T C 1: 136,046,390 (GRCm39) probably benign Het
Car9 G A 4: 43,508,616 (GRCm39) W42* probably null Het
Cdh20 T C 1: 104,862,035 (GRCm39) Y72H probably damaging Het
Ces1g T C 8: 94,043,718 (GRCm39) D407G possibly damaging Het
Cngb3 T A 4: 19,309,562 (GRCm39) D73E probably benign Het
Col6a4 A T 9: 105,945,451 (GRCm39) F888I probably damaging Het
Dgat2 T C 7: 98,807,504 (GRCm39) D222G probably benign Het
Dscaml1 T C 9: 45,583,993 (GRCm39) M486T probably benign Het
Faim2 C T 15: 99,425,460 (GRCm39) probably null Het
Fance T C 17: 28,537,293 (GRCm39) probably benign Het
Fancm G T 12: 65,168,480 (GRCm39) M1614I possibly damaging Het
Fcrl5 A T 3: 87,351,496 (GRCm39) N248I probably damaging Het
Foxo3 G A 10: 42,073,774 (GRCm39) R29W probably damaging Het
Gabbr2 A G 4: 46,718,797 (GRCm39) Y74H probably damaging Het
Gatd1 A C 7: 140,990,981 (GRCm39) D55E probably benign Het
Gpr152 C A 19: 4,193,223 (GRCm39) Q255K possibly damaging Het
Havcr1 A G 11: 46,643,268 (GRCm39) T63A probably benign Het
Hltf T C 3: 20,118,865 (GRCm39) probably null Het
Ifit3b A T 19: 34,590,030 (GRCm39) Q402L probably damaging Het
Ints3 A G 3: 90,322,828 (GRCm39) L134S probably benign Het
Kcna10 A G 3: 107,102,217 (GRCm39) T283A probably benign Het
Kmt2e A C 5: 23,697,313 (GRCm39) R590S probably damaging Het
Lefty1 A T 1: 180,765,277 (GRCm39) N282Y probably benign Het
Loxl4 T A 19: 42,596,030 (GRCm39) Y141F probably benign Het
Lyst T C 13: 13,824,935 (GRCm39) S1517P probably benign Het
Mcoln2 A G 3: 145,881,468 (GRCm39) H208R probably benign Het
Mdga2 C T 12: 66,517,775 (GRCm39) probably benign Het
Mpp2 T A 11: 101,955,259 (GRCm39) E122V possibly damaging Het
Mrgprb5 T C 7: 47,818,526 (GRCm39) N70D probably damaging Het
Muc5ac A T 7: 141,343,500 (GRCm39) E37D possibly damaging Het
Nbeal1 T A 1: 60,274,722 (GRCm39) probably null Het
Ncoa6 T C 2: 155,233,081 (GRCm39) probably benign Het
Nfib C A 4: 82,422,967 (GRCm39) probably null Het
Nostrin G T 2: 68,975,156 (GRCm39) G24* probably null Het
Nudc A G 4: 133,260,576 (GRCm39) Y293H probably damaging Het
Or51a42 T A 7: 103,707,940 (GRCm39) N290Y probably damaging Het
Pcmtd1 T A 1: 7,225,325 (GRCm39) Y41* probably null Het
Pigt T C 2: 164,343,544 (GRCm39) L340P probably damaging Het
Pomgnt1 T C 4: 116,012,972 (GRCm39) Y420H probably damaging Het
Pramel6 C T 2: 87,341,096 (GRCm39) T476I probably benign Het
Ptprn2 T A 12: 116,788,016 (GRCm39) H118Q possibly damaging Het
Rasl10a G A 11: 5,008,517 (GRCm39) S71N probably benign Het
Rnf213 A G 11: 119,310,893 (GRCm39) I804V probably benign Het
Rps4l-ps T C 7: 114,526,537 (GRCm39) noncoding transcript Het
Sash1 T A 10: 8,605,477 (GRCm39) H971L probably benign Het
Secisbp2 T A 13: 51,806,768 (GRCm39) F54L possibly damaging Het
Senp1 A T 15: 97,954,731 (GRCm39) H484Q probably benign Het
Slc12a1 T C 2: 124,995,913 (GRCm39) I22T possibly damaging Het
Slc25a36 A G 9: 96,972,172 (GRCm39) probably benign Het
Srcap T A 7: 127,140,731 (GRCm39) S1443T probably benign Het
Sv2c T C 13: 96,123,319 (GRCm39) T385A probably benign Het
Tas2r131 T A 6: 132,933,936 (GRCm39) H291L probably damaging Het
Thbs3 A G 3: 89,124,147 (GRCm39) D80G probably damaging Het
Tnxb C T 17: 34,908,394 (GRCm39) S1349L probably damaging Het
Toporsl A G 4: 52,611,996 (GRCm39) R630G probably benign Het
Vmn1r43 C A 6: 89,846,837 (GRCm39) M216I probably benign Het
Wdr17 T A 8: 55,092,911 (GRCm39) E1068D probably benign Het
Wnt10a G A 1: 74,842,762 (GRCm39) V413I probably damaging Het
Zfp141 T C 7: 42,126,111 (GRCm39) probably null Het
Zfp169 T C 13: 48,643,634 (GRCm39) I498V probably benign Het
Other mutations in Lrrn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01387:Lrrn2 APN 1 132,866,096 (GRCm39) missense possibly damaging 0.89
IGL01407:Lrrn2 APN 1 132,864,965 (GRCm39) missense probably damaging 1.00
IGL01636:Lrrn2 APN 1 132,864,959 (GRCm39) missense possibly damaging 0.95
IGL02134:Lrrn2 APN 1 132,865,555 (GRCm39) missense possibly damaging 0.69
IGL02142:Lrrn2 APN 1 132,866,983 (GRCm39) missense possibly damaging 0.86
IGL03240:Lrrn2 APN 1 132,866,065 (GRCm39) missense possibly damaging 0.53
R0226:Lrrn2 UTSW 1 132,865,558 (GRCm39) missense probably damaging 1.00
R0612:Lrrn2 UTSW 1 132,865,466 (GRCm39) missense probably damaging 1.00
R1185:Lrrn2 UTSW 1 132,866,959 (GRCm39) missense probably benign 0.00
R1185:Lrrn2 UTSW 1 132,866,959 (GRCm39) missense probably benign 0.00
R1185:Lrrn2 UTSW 1 132,866,959 (GRCm39) missense probably benign 0.00
R1969:Lrrn2 UTSW 1 132,866,972 (GRCm39) missense probably benign 0.00
R2087:Lrrn2 UTSW 1 132,865,489 (GRCm39) missense probably damaging 1.00
R3923:Lrrn2 UTSW 1 132,866,230 (GRCm39) missense probably benign 0.45
R4006:Lrrn2 UTSW 1 132,865,478 (GRCm39) missense probably damaging 1.00
R4022:Lrrn2 UTSW 1 132,866,852 (GRCm39) missense probably benign
R4091:Lrrn2 UTSW 1 132,865,390 (GRCm39) nonsense probably null
R4092:Lrrn2 UTSW 1 132,865,390 (GRCm39) nonsense probably null
R5285:Lrrn2 UTSW 1 132,866,983 (GRCm39) missense possibly damaging 0.86
R5681:Lrrn2 UTSW 1 132,864,899 (GRCm39) start gained probably benign
R5791:Lrrn2 UTSW 1 132,865,505 (GRCm39) missense probably benign 0.00
R5916:Lrrn2 UTSW 1 132,865,538 (GRCm39) missense probably damaging 1.00
R6646:Lrrn2 UTSW 1 132,866,794 (GRCm39) missense probably benign
R7021:Lrrn2 UTSW 1 132,866,522 (GRCm39) missense probably damaging 1.00
R7686:Lrrn2 UTSW 1 132,866,332 (GRCm39) missense probably benign 0.04
R7811:Lrrn2 UTSW 1 132,866,939 (GRCm39) missense probably benign
R7869:Lrrn2 UTSW 1 132,867,116 (GRCm39) missense unknown
R8004:Lrrn2 UTSW 1 132,865,489 (GRCm39) missense probably damaging 1.00
R8195:Lrrn2 UTSW 1 132,865,082 (GRCm39) missense probably damaging 1.00
R8815:Lrrn2 UTSW 1 132,866,831 (GRCm39) missense possibly damaging 0.87
R8948:Lrrn2 UTSW 1 132,866,104 (GRCm39) missense probably benign 0.39
R9244:Lrrn2 UTSW 1 132,865,237 (GRCm39) missense probably damaging 1.00
R9244:Lrrn2 UTSW 1 132,865,058 (GRCm39) missense probably damaging 1.00
R9325:Lrrn2 UTSW 1 132,865,241 (GRCm39) missense probably damaging 1.00
Z1177:Lrrn2 UTSW 1 132,866,716 (GRCm39) missense probably benign 0.00
Z1177:Lrrn2 UTSW 1 132,865,636 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AAGTGGCCTTTGCTGATGCC -3'
(R):5'- CCCGTTTAGTGTAGAGTTGTCC -3'

Sequencing Primer
(F):5'- TGATGCCCACACCCAGTTG -3'
(R):5'- TCTACTGCTGAGACCTGGC -3'
Posted On 2015-10-21