Incidental Mutation 'R9680:Lrrc2'
ID 728495
Institutional Source Beutler Lab
Gene Symbol Lrrc2
Ensembl Gene ENSMUSG00000032495
Gene Name leucine rich repeat containing 2
Synonyms 2400002D05Rik, 4933431K03Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9680 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 110780613-110813134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 110791710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 154 (N154I)
Ref Sequence ENSEMBL: ENSMUSP00000035076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035076] [ENSMUST00000196834]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000035076
AA Change: N154I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000035076
Gene: ENSMUSG00000032495
AA Change: N154I

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: N88I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142360
Gene: ENSMUSG00000032495
AA Change: N88I

DomainStartEndE-ValueType
Blast:LRR 77 99 2e-7 BLAST
LRR_TYP 100 123 2e-6 SMART
LRR 147 170 6.2e-1 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 T A 8: 41,208,239 (GRCm39) Y502N probably damaging Het
Adam6a T A 12: 113,509,484 (GRCm39) L619* probably null Het
Akap9 A T 5: 4,011,587 (GRCm39) R763S probably benign Het
Akt3 G A 1: 176,958,639 (GRCm39) P24S probably damaging Het
Ano2 A T 6: 125,857,382 (GRCm39) probably null Het
B4galnt4 G A 7: 140,647,957 (GRCm39) R491Q possibly damaging Het
Bahcc1 A G 11: 120,163,286 (GRCm39) D528G possibly damaging Het
Camk1g G T 1: 193,030,483 (GRCm39) Q409K probably benign Het
Cdh3 T A 8: 107,274,396 (GRCm39) N638K probably benign Het
Cgnl1 T A 9: 71,562,632 (GRCm39) E882D possibly damaging Het
Cplane1 A G 15: 8,231,785 (GRCm39) N1077S possibly damaging Het
Cpxm2 C T 7: 131,661,651 (GRCm39) E379K probably damaging Het
Cyp3a16 A G 5: 145,389,690 (GRCm39) L225P probably damaging Het
Dchs1 T C 7: 105,411,625 (GRCm39) E1497G probably damaging Het
Denr T A 5: 124,065,117 (GRCm39) S157T possibly damaging Het
Disp3 A G 4: 148,356,101 (GRCm39) I253T probably damaging Het
Dlgap2 C T 8: 14,896,653 (GRCm39) T1043M probably damaging Het
Epb41l5 T C 1: 119,535,804 (GRCm39) T355A probably damaging Het
Etv6 G A 6: 134,013,062 (GRCm39) probably benign Het
Fbn1 T C 2: 125,310,484 (GRCm39) I141V probably benign Het
Fsip2 T G 2: 82,819,272 (GRCm39) S5002A probably benign Het
Gbf1 T G 19: 46,271,837 (GRCm39) V1576G probably damaging Het
Gmfg T A 7: 28,140,733 (GRCm39) probably null Het
Gsdmc4 T C 15: 63,774,706 (GRCm39) E25G possibly damaging Het
Igkv6-23 A T 6: 70,237,884 (GRCm39) L12M possibly damaging Het
Kank1 G A 19: 25,388,138 (GRCm39) V604M probably damaging Het
Kctd1 A G 18: 15,140,822 (GRCm39) V40A probably damaging Het
Krt222 T C 11: 99,127,065 (GRCm39) K185R possibly damaging Het
Ldc1 A G 4: 130,115,527 (GRCm39) V7A probably benign Het
Lipm T C 19: 34,089,494 (GRCm39) F151L probably damaging Het
Map1a T A 2: 121,132,865 (GRCm39) M1227K probably damaging Het
Med1 T C 11: 98,071,114 (GRCm39) T78A probably damaging Het
Mrm1 A G 11: 84,710,144 (GRCm39) S19P possibly damaging Het
Naf1 GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC 8: 67,313,200 (GRCm39) probably benign Het
Nap1l1 A G 10: 111,330,657 (GRCm39) Y354C probably damaging Het
Npr1 A G 3: 90,368,448 (GRCm39) V474A probably benign Het
Nyap1 A T 5: 137,733,840 (GRCm39) S398T probably damaging Het
Obox7 C T 7: 14,398,067 (GRCm39) Q36* probably null Het
Or5aq6 A T 2: 86,923,390 (GRCm39) M117K possibly damaging Het
Or6c8 A T 10: 128,915,358 (GRCm39) I158N probably benign Het
P3h1 T A 4: 119,090,428 (GRCm39) L92H probably benign Het
Pappa2 T C 1: 158,609,818 (GRCm39) T1548A possibly damaging Het
Pnisr A G 4: 21,873,586 (GRCm39) E443G probably damaging Het
Prdm2 A G 4: 142,859,079 (GRCm39) S1404P possibly damaging Het
Prom1 A T 5: 44,190,284 (GRCm39) probably null Het
Rbm27 A T 18: 42,455,186 (GRCm39) Q646H probably damaging Het
Scamp3 C T 3: 89,087,561 (GRCm39) R134* probably null Het
Scrt2 T C 2: 151,924,018 (GRCm39) C17R probably benign Het
Setbp1 A G 18: 78,902,498 (GRCm39) S390P probably benign Het
Shank2 A T 7: 143,964,837 (GRCm39) D815V probably damaging Het
Sirt7 G A 11: 120,511,296 (GRCm39) T285M Het
Sis T G 3: 72,863,621 (GRCm39) S206R probably benign Het
Slc24a4 T G 12: 102,193,334 (GRCm39) D206E possibly damaging Het
Slc26a4 C A 12: 31,585,292 (GRCm39) G501C probably damaging Het
Sptb T C 12: 76,677,489 (GRCm39) N115S probably damaging Het
Srprb T C 9: 103,074,807 (GRCm39) T112A possibly damaging Het
Tbk1 G T 10: 121,389,841 (GRCm39) A537E probably benign Het
Tbx19 T A 1: 164,970,067 (GRCm39) H274L probably damaging Het
Tmem130 A G 5: 144,674,233 (GRCm39) S394P probably damaging Het
Tmem40 A G 6: 115,718,517 (GRCm39) S104P possibly damaging Het
Tmprss2 T A 16: 97,379,826 (GRCm39) Q158L probably damaging Het
Tnip1 A T 11: 54,828,876 (GRCm39) V97D possibly damaging Het
Tpr T A 1: 150,314,887 (GRCm39) S1985T probably benign Het
Traf7 CA CAA 17: 24,746,737 (GRCm39) probably benign Het
Trio G T 15: 27,744,158 (GRCm39) N2591K possibly damaging Het
Ushbp1 A T 8: 71,838,573 (GRCm39) C618S possibly damaging Het
Usp34 A G 11: 23,317,385 (GRCm39) S834G possibly damaging Het
Vmn2r103 C A 17: 20,019,525 (GRCm39) C536* probably null Het
Vmn2r124 T A 17: 18,293,758 (GRCm39) V615D probably damaging Het
Zbtb38 G A 9: 96,570,397 (GRCm39) T229I probably benign Het
Zfhx4 T A 3: 5,465,656 (GRCm39) V1963E probably damaging Het
Zfp142 G A 1: 74,610,933 (GRCm39) T954M probably benign Het
Zgrf1 A G 3: 127,409,216 (GRCm39) Y1730C probably benign Het
Other mutations in Lrrc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01796:Lrrc2 APN 9 110,809,886 (GRCm39) splice site probably null
IGL02243:Lrrc2 APN 9 110,799,125 (GRCm39) missense probably damaging 1.00
IGL02715:Lrrc2 APN 9 110,799,182 (GRCm39) missense probably damaging 1.00
IGL02793:Lrrc2 APN 9 110,808,695 (GRCm39) critical splice donor site probably null
IGL02958:Lrrc2 APN 9 110,791,741 (GRCm39) critical splice donor site probably null
PIT4362001:Lrrc2 UTSW 9 110,791,608 (GRCm39) missense possibly damaging 0.91
R0255:Lrrc2 UTSW 9 110,809,966 (GRCm39) missense possibly damaging 0.87
R0472:Lrrc2 UTSW 9 110,791,685 (GRCm39) missense probably benign 0.00
R0909:Lrrc2 UTSW 9 110,791,741 (GRCm39) critical splice donor site probably null
R1575:Lrrc2 UTSW 9 110,808,555 (GRCm39) missense probably benign 0.07
R1619:Lrrc2 UTSW 9 110,790,041 (GRCm39) missense probably benign 0.00
R1669:Lrrc2 UTSW 9 110,810,718 (GRCm39) missense probably damaging 0.99
R1778:Lrrc2 UTSW 9 110,809,908 (GRCm39) missense probably benign
R1914:Lrrc2 UTSW 9 110,810,007 (GRCm39) missense probably damaging 1.00
R2165:Lrrc2 UTSW 9 110,808,645 (GRCm39) missense possibly damaging 0.78
R3792:Lrrc2 UTSW 9 110,795,585 (GRCm39) nonsense probably null
R3793:Lrrc2 UTSW 9 110,795,585 (GRCm39) nonsense probably null
R4499:Lrrc2 UTSW 9 110,791,713 (GRCm39) missense probably benign 0.11
R4683:Lrrc2 UTSW 9 110,791,614 (GRCm39) missense possibly damaging 0.95
R4693:Lrrc2 UTSW 9 110,799,161 (GRCm39) missense probably damaging 1.00
R4723:Lrrc2 UTSW 9 110,799,228 (GRCm39) critical splice donor site probably null
R5033:Lrrc2 UTSW 9 110,809,987 (GRCm39) missense probably damaging 0.98
R5935:Lrrc2 UTSW 9 110,795,629 (GRCm39) missense probably benign 0.17
R6269:Lrrc2 UTSW 9 110,810,017 (GRCm39) missense probably damaging 1.00
R6645:Lrrc2 UTSW 9 110,799,175 (GRCm39) missense probably damaging 1.00
R6855:Lrrc2 UTSW 9 110,782,250 (GRCm39) splice site probably null
R7621:Lrrc2 UTSW 9 110,809,899 (GRCm39) missense probably benign 0.00
R7748:Lrrc2 UTSW 9 110,809,999 (GRCm39) missense possibly damaging 0.63
R7827:Lrrc2 UTSW 9 110,790,049 (GRCm39) missense possibly damaging 0.93
R8169:Lrrc2 UTSW 9 110,809,954 (GRCm39) missense probably benign
R8186:Lrrc2 UTSW 9 110,789,910 (GRCm39) missense possibly damaging 0.67
R8458:Lrrc2 UTSW 9 110,799,218 (GRCm39) missense probably damaging 1.00
R9146:Lrrc2 UTSW 9 110,808,582 (GRCm39) missense probably damaging 1.00
R9198:Lrrc2 UTSW 9 110,791,722 (GRCm39) missense probably benign 0.05
R9568:Lrrc2 UTSW 9 110,799,228 (GRCm39) critical splice donor site probably null
R9761:Lrrc2 UTSW 9 110,809,942 (GRCm39) missense possibly damaging 0.49
RF009:Lrrc2 UTSW 9 110,810,744 (GRCm39) makesense probably null
RF021:Lrrc2 UTSW 9 110,810,744 (GRCm39) makesense probably null
Predicted Primers PCR Primer
(F):5'- TGAATAAATCCTTGGCTTGGAGC -3'
(R):5'- CTGAATCGTGCAGATAGATCATG -3'

Sequencing Primer
(F):5'- CTTGGAGCACACAGAGGC -3'
(R):5'- TGATACTTCATGTCCCAAAGGG -3'
Posted On 2022-10-06