Incidental Mutation 'PIT4362001:Lrrc2'
ID 554631
Institutional Source Beutler Lab
Gene Symbol Lrrc2
Ensembl Gene ENSMUSG00000032495
Gene Name leucine rich repeat containing 2
Synonyms 2400002D05Rik, 4933431K03Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4362001 (G1)
Quality Score 180.009
Status Not validated
Chromosome 9
Chromosomal Location 110780613-110813134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 110791608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 120 (Q120L)
Ref Sequence ENSEMBL: ENSMUSP00000035076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035076] [ENSMUST00000196834]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000035076
AA Change: Q120L

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000035076
Gene: ENSMUSG00000032495
AA Change: Q120L

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 possibly damaging
Transcript: ENSMUST00000196834
AA Change: Q54L

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142360
Gene: ENSMUSG00000032495
AA Change: Q54L

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: 93.4%
  • 3x: 91.2%
  • 10x: 87.0%
  • 20x: 78.3%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 T C 17: 31,283,398 (GRCm39) S28P possibly damaging Het
Akr1c14 T C 13: 4,129,100 (GRCm39) V165A probably damaging Het
Aox1 A T 1: 58,321,839 (GRCm39) T44S probably damaging Het
Arhgap29 T A 3: 121,796,861 (GRCm39) N482K probably benign Het
Arhgef38 T A 3: 132,866,591 (GRCm39) D182V Het
Atad5 C T 11: 80,002,393 (GRCm39) H1062Y probably benign Het
Atp6v0b A G 4: 117,742,453 (GRCm39) S147P possibly damaging Het
Cblb T A 16: 51,959,905 (GRCm39) Y299* probably null Het
Ccdc28b T C 4: 129,514,818 (GRCm39) N97S probably benign Het
Cdh23 A G 10: 60,301,237 (GRCm39) V479A probably benign Het
Chuk A G 19: 44,087,022 (GRCm39) probably null Het
Cmtr2 G A 8: 110,948,968 (GRCm39) G426D probably damaging Het
Cog4 G A 8: 111,593,304 (GRCm39) D472N probably damaging Het
Creb3 T A 4: 43,565,472 (GRCm39) L193* probably null Het
Cxcr6 A T 9: 123,639,526 (GRCm39) I183F probably benign Het
Dbf4 A G 5: 8,453,664 (GRCm39) F253L probably benign Het
Dcaf8 T C 1: 172,000,364 (GRCm39) V174A probably damaging Het
Ddhd2 T C 8: 26,225,779 (GRCm39) Y526C probably damaging Het
Dnal4 A G 15: 79,647,766 (GRCm39) V33A probably benign Het
Egfl7 C T 2: 26,481,052 (GRCm39) P188L probably benign Het
Ephb3 A G 16: 21,039,607 (GRCm39) E707G probably damaging Het
Epn3 C T 11: 94,387,349 (GRCm39) R7H probably damaging Het
Fbp1 T A 13: 63,015,194 (GRCm39) I262F probably damaging Het
Fgfbp3 G A 19: 36,896,088 (GRCm39) R177* probably null Het
Gask1b C A 3: 79,794,246 (GRCm39) S238Y possibly damaging Het
Gbp5 T C 3: 142,206,471 (GRCm39) S52P probably damaging Het
Glb1l2 A T 9: 26,685,277 (GRCm39) S282T probably benign Het
Glg1 A T 8: 111,985,431 (GRCm39) V133E possibly damaging Het
Gm4787 T G 12: 81,423,949 (GRCm39) L736F probably benign Het
Gm5565 A T 5: 146,095,109 (GRCm39) S212R probably benign Het
Grin2c T C 11: 115,140,459 (GRCm39) T1220A probably benign Het
Grp T G 18: 66,019,297 (GRCm39) S133A probably benign Het
Gstp2 C A 19: 4,090,713 (GRCm39) D147Y possibly damaging Het
Igkv14-130 T C 6: 67,768,392 (GRCm39) F84L probably damaging Het
Inppl1 T C 7: 101,475,220 (GRCm39) R944G probably benign Het
Lama2 A T 10: 27,245,132 (GRCm39) N216K probably damaging Het
Lrp2 T A 2: 69,367,882 (GRCm39) D210V probably damaging Het
Lrriq1 A G 10: 102,907,055 (GRCm39) I1555T probably benign Het
Map2 G A 1: 66,451,677 (GRCm39) G189D probably benign Het
Mdc1 A G 17: 36,155,361 (GRCm39) E12G possibly damaging Het
Mdga2 T C 12: 66,844,542 (GRCm39) D152G possibly damaging Het
Med23 A G 10: 24,750,469 (GRCm39) M99V probably benign Het
Mutyh G A 4: 116,674,267 (GRCm39) V273M probably damaging Het
Neurod2 T A 11: 98,218,708 (GRCm39) Y152F probably damaging Het
Or5d3 C T 2: 88,174,357 (GRCm39) A247T probably benign Het
Or5g25 A C 2: 85,478,068 (GRCm39) L199R probably damaging Het
Or8c20 G T 9: 38,260,494 (GRCm39) L32F probably benign Het
Pcdh20 G C 14: 88,704,462 (GRCm39) P946R probably damaging Het
Pde6b T C 5: 108,571,451 (GRCm39) probably null Het
Pdzrn4 A T 15: 92,667,762 (GRCm39) D638V possibly damaging Het
Polr1b A G 2: 128,951,212 (GRCm39) D275G possibly damaging Het
Rnf157 T A 11: 116,251,143 (GRCm39) D127V probably damaging Het
Rspo4 T A 2: 151,709,803 (GRCm39) C69* probably null Het
Scara3 T C 14: 66,173,851 (GRCm39) T63A probably benign Het
Scn2a G A 2: 65,514,182 (GRCm39) E289K probably benign Het
Sh3gl2 A G 4: 85,295,786 (GRCm39) T163A probably benign Het
Slc2a10 T A 2: 165,358,213 (GRCm39) F446Y probably damaging Het
Snapc1 C T 12: 74,029,269 (GRCm39) R351C probably damaging Het
Snx6 A G 12: 54,814,815 (GRCm39) Y169H possibly damaging Het
Stab2 A T 10: 86,697,299 (GRCm39) C1996* probably null Het
Steap4 A G 5: 8,030,337 (GRCm39) T398A probably benign Het
Tep1 A T 14: 51,103,510 (GRCm39) L260Q probably benign Het
Tspan12 A T 6: 21,835,463 (GRCm39) V70D possibly damaging Het
Ttn G A 2: 76,569,362 (GRCm39) A27177V probably damaging Het
Ube3a T C 7: 58,925,870 (GRCm39) V237A possibly damaging Het
Vil1 G A 1: 74,460,542 (GRCm39) R233H probably damaging Het
Xrcc5 A G 1: 72,433,088 (GRCm39) T716A probably benign Het
Zbp1 A G 2: 173,058,783 (GRCm39) I18T probably damaging Het
Zfp292 A G 4: 34,807,524 (GRCm39) V1845A probably benign Het
Zfp407 A T 18: 84,579,393 (GRCm39) N573K possibly damaging Het
Zfp64 T C 2: 168,767,735 (GRCm39) T626A 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
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
R9680:Lrrc2 UTSW 9 110,791,710 (GRCm39) missense probably damaging 1.00
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'- TAATGACAACCGTCCTTGGC -3'
(R):5'- GAATCGTGCAGATAGATCATGATAC -3'

Sequencing Primer
(F):5'- CTTCTGTAGAAGTGGCCGCAG -3'
(R):5'- CACTGTGTCACTTGGCGATGAC -3'
Posted On 2019-06-07