Incidental Mutation 'R6269:Lrrc2'
ID507232
Institutional Source Beutler Lab
Gene Symbol Lrrc2
Ensembl Gene ENSMUSG00000032495
Gene Nameleucine rich repeat containing 2
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #R6269 (G1)
Quality Score225.009
Status Not validated
Chromosome9
Chromosomal Location110951545-110984066 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 110980949 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 351 (D351G)
Ref Sequence ENSEMBL: ENSMUSP00000035076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035076] [ENSMUST00000084922] [ENSMUST00000199891]
Predicted Effect probably damaging
Transcript: ENSMUST00000035076
AA Change: D351G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035076
Gene: ENSMUSG00000032495
AA Change: D351G

DomainStartEndE-ValueType
Blast:LRR 143 165 5e-7 BLAST
LRR_TYP 166 189 4.87e-4 SMART
LRR 236 258 1.41e1 SMART
LRR 259 282 2.27e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000084922
SMART Domains Protein: ENSMUSP00000081985
Gene: ENSMUSG00000066319

DomainStartEndE-ValueType
zf-3CxxC 52 164 2.13e-52 SMART
low complexity region 356 404 N/A INTRINSIC
low complexity region 458 474 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196598
Predicted Effect probably benign
Transcript: ENSMUST00000199891
SMART Domains Protein: ENSMUSP00000143305
Gene: ENSMUSG00000066319

DomainStartEndE-ValueType
zf-3CxxC 52 164 2.13e-52 SMART
low complexity region 356 404 N/A INTRINSIC
low complexity region 458 474 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the leucine-rich repeat-containing family of proteins, which function in diverse biological pathways. This family member may possibly be a nuclear protein. Similarity to the RAS suppressor protein, as well as expression down-regulation observed in tumor cells, suggests that it may function as a tumor suppressor. The gene is located in the chromosome 3 common eliminated region 1 (C3CER1), a 1.4 Mb region that is commonly deleted in diverse tumors. A related pseudogene has been identified on chromosome 2. [provided by RefSeq, Sep 2011]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T A 6: 86,964,051 I609N unknown Het
Ano10 A T 9: 122,261,242 I277N probably damaging Het
Ap2b1 A G 11: 83,346,673 D483G probably damaging Het
As3mt T A 19: 46,719,952 F226Y probably damaging Het
Atp10a G A 7: 58,803,739 R855H possibly damaging Het
Bin3 T A 14: 70,137,162 H213Q probably benign Het
Bora T C 14: 99,073,667 C512R probably damaging Het
Camk2b T A 11: 5,978,497 D414V probably damaging Het
Ccdc27 A T 4: 154,037,722 L233Q unknown Het
Ccdc73 T C 2: 104,907,633 S25P probably damaging Het
Cenpf G A 1: 189,659,920 H572Y probably benign Het
Chil4 A G 3: 106,204,171 V209A probably damaging Het
Clstn1 T C 4: 149,644,067 V650A probably benign Het
Cox6a2 T A 7: 128,206,265 S11C probably benign Het
Csf1 T C 3: 107,749,001 E238G probably benign Het
Cyp2c23 T A 19: 44,029,187 M1L unknown Het
Cyp4a10 T A 4: 115,524,312 M191K probably damaging Het
Cyp4a14 A G 4: 115,491,131 V383A possibly damaging Het
D130052B06Rik T G 11: 33,623,916 V171G possibly damaging Het
Dlgap2 A G 8: 14,822,369 T617A probably benign Het
Dyrk4 T A 6: 126,886,727 I351F probably damaging Het
Epg5 T C 18: 77,948,370 V94A probably benign Het
Fam111a A G 19: 12,588,443 T519A probably benign Het
Fam208b C T 13: 3,581,891 R870H possibly damaging Het
Gdpd4 A G 7: 97,974,462 S314G probably damaging Het
Gm9758 T A 5: 14,912,260 K111N possibly damaging Het
Gpr137b A T 13: 13,363,511 V285E probably damaging Het
Hyls1 G A 9: 35,561,184 S312F probably benign Het
Itgal T A 7: 127,330,217 L1102Q probably null Het
Kctd19 T A 8: 105,395,360 Y185F possibly damaging Het
Kif5b A G 18: 6,223,558 L317P possibly damaging Het
Klhl42 C A 6: 147,092,307 A259E probably damaging Het
Med12l A G 3: 59,227,822 E797G probably damaging Het
Mink1 A G 11: 70,598,987 E63G probably damaging Het
Nek9 T C 12: 85,332,329 probably null Het
Olfr1120 A T 2: 87,846,874 H201L possibly damaging Het
Otx1 C A 11: 21,997,037 A91S probably damaging Het
Parp6 G A 9: 59,650,012 V627I probably benign Het
Pclo C T 5: 14,522,094 Q498* probably null Het
Pdlim5 T C 3: 142,312,325 T170A possibly damaging Het
Pgap1 A T 1: 54,548,008 Y136* probably null Het
Pgghg T A 7: 140,946,184 N563K probably damaging Het
Plxnb2 A G 15: 89,160,713 M1143T probably benign Het
Pnpla1 G A 17: 28,881,368 G403E probably benign Het
Prc1 G A 7: 80,309,427 R381Q probably damaging Het
Psph A T 5: 129,766,465 I175N probably damaging Het
Rbbp8nl T A 2: 180,281,512 K131* probably null Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,579,906 probably benign Homo
Sde2 G A 1: 180,855,806 V42I probably benign Het
Slc25a3 G A 10: 91,117,101 R314* probably null Het
Spag9 A G 11: 94,044,507 N48S probably benign Het
Srp54b T C 12: 55,255,972 M351T possibly damaging Het
Tcaf2 A G 6: 42,627,408 L679P probably damaging Het
Tnrc6b T A 15: 80,880,743 N815K probably benign Het
Usp17la A T 7: 104,860,350 Q54L possibly damaging Het
Vmn2r92 T A 17: 18,166,774 I125K probably benign Het
Xrra1 T C 7: 99,917,472 Y732H probably damaging Het
Zfp131 A G 13: 119,766,405 S603P possibly damaging Het
Zfp28 G T 7: 6,393,613 S349I probably benign Het
Other mutations in Lrrc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01796:Lrrc2 APN 9 110980818 unclassified probably null
IGL02243:Lrrc2 APN 9 110970057 missense probably damaging 1.00
IGL02715:Lrrc2 APN 9 110970114 missense probably damaging 1.00
IGL02793:Lrrc2 APN 9 110979627 critical splice donor site probably null
IGL02958:Lrrc2 APN 9 110962673 critical splice donor site probably null
PIT4362001:Lrrc2 UTSW 9 110962540 missense possibly damaging 0.91
R0255:Lrrc2 UTSW 9 110980898 missense possibly damaging 0.87
R0472:Lrrc2 UTSW 9 110962617 missense probably benign 0.00
R0909:Lrrc2 UTSW 9 110962673 critical splice donor site probably null
R1575:Lrrc2 UTSW 9 110979487 missense probably benign 0.07
R1619:Lrrc2 UTSW 9 110960973 missense probably benign 0.00
R1669:Lrrc2 UTSW 9 110981650 missense probably damaging 0.99
R1778:Lrrc2 UTSW 9 110980840 missense probably benign
R1914:Lrrc2 UTSW 9 110980939 missense probably damaging 1.00
R2165:Lrrc2 UTSW 9 110979577 missense possibly damaging 0.78
R3792:Lrrc2 UTSW 9 110966517 nonsense probably null
R3793:Lrrc2 UTSW 9 110966517 nonsense probably null
R4499:Lrrc2 UTSW 9 110962645 missense probably benign 0.11
R4683:Lrrc2 UTSW 9 110962546 missense possibly damaging 0.95
R4693:Lrrc2 UTSW 9 110970093 missense probably damaging 1.00
R4723:Lrrc2 UTSW 9 110970160 critical splice donor site probably null
R5033:Lrrc2 UTSW 9 110980919 missense probably damaging 0.98
R5935:Lrrc2 UTSW 9 110966561 missense probably benign 0.17
R6645:Lrrc2 UTSW 9 110970107 missense probably damaging 1.00
R6855:Lrrc2 UTSW 9 110953182 intron probably null
Predicted Primers PCR Primer
(F):5'- CTGTTGAACAGTCCCAGTAAACA -3'
(R):5'- GGTTCACAAATAGCCACAAATAATTT -3'

Sequencing Primer
(F):5'- AGTAAACACGTGCGCTTTCTG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
Posted On2018-03-15