Incidental Mutation 'R6645:Lrrc2'
ID526076
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? Non essential (E-score: 0.000) question?
Stock #R6645 (G1)
Quality Score225.009
Status Not validated
Chromosome9
Chromosomal Location110951545-110984066 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 110970107 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 241 (W241R)
Ref Sequence ENSEMBL: ENSMUSP00000035076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035076] [ENSMUST00000196834]
Predicted Effect probably damaging
Transcript: ENSMUST00000035076
AA Change: W241R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035076
Gene: ENSMUSG00000032495
AA Change: W241R

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: ENSMUST00000196598
Predicted Effect probably damaging
Transcript: ENSMUST00000196834
AA Change: W175R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142360
Gene: ENSMUSG00000032495
AA Change: W175R

DomainStartEndE-ValueType
Blast:LRR 77 99 2e-7 BLAST
LRR_TYP 100 123 2e-6 SMART
LRR 147 170 6.2e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197846
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik T A 1: 26,683,117 D994V probably benign Het
Anp32e T A 3: 95,937,102 F95I probably damaging Het
Arap1 A G 7: 101,408,111 K628R possibly damaging Het
Arid4b A T 13: 14,120,152 E6D probably damaging Het
Atxn10 G T 15: 85,376,703 probably null Het
Ccdc170 A G 10: 4,560,974 I678V possibly damaging Het
Ccdc18 T A 5: 108,138,930 V110D probably benign Het
Cep85l C T 10: 53,301,672 E322K probably benign Het
Cilp A T 9: 65,279,305 Y894F possibly damaging Het
Ddx4 A G 13: 112,641,174 S62P possibly damaging Het
Dph7 T C 2: 24,965,651 V154A probably benign Het
Ephb6 T C 6: 41,617,272 S579P probably benign Het
Fam53a G T 5: 33,600,784 Q332K probably benign Het
Fancm A G 12: 65,106,100 D1110G probably damaging Het
Fh1 A T 1: 175,614,876 V136E possibly damaging Het
Greb1 G T 12: 16,698,579 H1132Q probably benign Het
Jph1 A G 1: 17,091,761 S226P probably damaging Het
Kbtbd8 C T 6: 95,126,749 R460* probably null Het
Lama5 T A 2: 180,179,670 N3059Y probably damaging Het
Lipc G A 9: 70,803,748 T289I probably damaging Het
Mfn2 T A 4: 147,894,612 I88F probably damaging Het
Mms19 G C 19: 41,955,191 N366K probably benign Het
Myo15 A G 11: 60,477,292 T293A probably benign Het
Ndfip2 T A 14: 105,292,273 Y179N probably damaging Het
Notch4 A G 17: 34,587,816 D1909G probably benign Het
Obscn C T 11: 59,085,262 S2013N probably damaging Het
Oca2 G T 7: 56,314,774 A357S probably benign Het
Olfr902 T C 9: 38,448,923 L17S probably damaging Het
Olfr955 T A 9: 39,470,266 L153F probably benign Het
Pde7b C A 10: 20,610,566 probably null Het
Ppef2 T C 5: 92,230,461 N625S probably benign Het
Prom1 A T 5: 44,047,514 L192Q probably damaging Het
Satb2 T C 1: 56,797,007 I542V possibly damaging Het
Sgpp2 C T 1: 78,360,162 T59M probably damaging Het
Skint6 T C 4: 112,892,038 T782A possibly damaging Het
Slc13a4 G T 6: 35,268,839 Q624K probably benign Het
Slc9a3 T A 13: 74,164,172 H629Q probably damaging Het
Slitrk3 G T 3: 73,049,861 A526E probably benign Het
Sptssa T C 12: 54,646,490 Y53C probably damaging Het
Srsf10 T C 4: 135,863,563 S159P possibly damaging Het
Tbce T C 13: 14,005,229 T341A probably benign Het
Tdrd6 A G 17: 43,624,532 L1875P probably benign Het
Tkt G A 14: 30,570,211 G425R probably damaging Het
Tmprss7 T C 16: 45,690,963 I17M possibly damaging Het
Ttc21b T C 2: 66,236,377 S311G probably benign Het
Ubr5 A G 15: 38,029,506 Y492H probably damaging Het
Ush2a T C 1: 188,523,331 I1535T probably damaging Het
Vmn2r17 A T 5: 109,428,381 N373Y probably damaging Het
Vmn2r6 A T 3: 64,556,876 V179E probably damaging Het
Vps13b A G 15: 35,910,305 E3405G probably benign Het
Wac A T 18: 7,973,523 Q212H probably damaging Het
Washc4 C T 10: 83,572,195 R555* probably null Het
Zmat4 G A 8: 23,797,401 probably null 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
R6269:Lrrc2 UTSW 9 110980949 missense probably damaging 1.00
R6855:Lrrc2 UTSW 9 110953182 intron probably null
Predicted Primers PCR Primer
(F):5'- GAACTTCATTCTTGTCTTCACACGG -3'
(R):5'- AATGGAAACTGCCTTACTCTATCG -3'

Sequencing Primer
(F):5'- TCCTGATGCCGTGATAAAGC -3'
(R):5'- GCCTTACTCTATCGTTTCCTAGAAAC -3'
Posted On2018-06-22