Incidental Mutation 'R8867:Lrrc7'
ID 675991
Institutional Source Beutler Lab
Gene Symbol Lrrc7
Ensembl Gene ENSMUSG00000028176
Gene Name leucine rich repeat containing 7
Synonyms densin
MMRRC Submission 068682-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.748) question?
Stock # R8867 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 157788528-158267858 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 157867521 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 740 (D740V)
Ref Sequence ENSEMBL: ENSMUSP00000142498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106044] [ENSMUST00000199890] [ENSMUST00000200137]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000106044
AA Change: D740V

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101659
Gene: ENSMUSG00000028176
AA Change: D740V

DomainStartEndE-ValueType
LRR 53 73 3.65e0 SMART
LRR 96 118 2.2e1 SMART
LRR 142 164 4.21e1 SMART
LRR 165 187 7.36e0 SMART
LRR 188 210 7.05e-1 SMART
LRR 211 233 3.09e1 SMART
LRR 234 257 4.21e1 SMART
LRR 258 279 2.61e2 SMART
LRR 280 303 3.52e-1 SMART
LRR 326 349 1.99e0 SMART
LRR 372 394 2.63e0 SMART
low complexity region 466 476 N/A INTRINSIC
low complexity region 692 705 N/A INTRINSIC
Blast:PDZ 708 736 1e-5 BLAST
low complexity region 787 797 N/A INTRINSIC
low complexity region 864 878 N/A INTRINSIC
Blast:PDZ 1349 1378 2e-11 BLAST
PDZ 1460 1540 1.33e-19 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000199890
AA Change: D740V

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000142440
Gene: ENSMUSG00000028176
AA Change: D740V

DomainStartEndE-ValueType
LRR 53 73 3.65e0 SMART
LRR 96 118 2.2e1 SMART
LRR 142 164 4.21e1 SMART
LRR 165 187 7.36e0 SMART
LRR 188 210 7.05e-1 SMART
LRR 211 233 3.09e1 SMART
LRR 234 257 4.21e1 SMART
LRR 258 279 2.61e2 SMART
LRR 280 303 3.52e-1 SMART
LRR 326 349 1.99e0 SMART
LRR 372 394 2.63e0 SMART
low complexity region 466 476 N/A INTRINSIC
low complexity region 692 705 N/A INTRINSIC
Blast:PDZ 708 736 9e-6 BLAST
low complexity region 787 797 N/A INTRINSIC
low complexity region 864 878 N/A INTRINSIC
Blast:PDZ 1328 1364 1e-15 BLAST
low complexity region 1374 1387 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000200137
AA Change: D740V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142498
Gene: ENSMUSG00000028176
AA Change: D740V

DomainStartEndE-ValueType
LRR 52 69 7.6e-1 SMART
LRR 73 92 4.2e-1 SMART
LRR 96 115 3.4e-1 SMART
LRR 142 164 1.8e-1 SMART
LRR 165 184 1.5e-1 SMART
LRR 188 207 2e-2 SMART
LRR 211 233 1.3e-1 SMART
LRR 234 257 1.7e-1 SMART
LRR 257 276 1e0 SMART
LRR 280 299 3.1e-2 SMART
LRR 303 322 6.6e-1 SMART
LRR 326 345 2.1e-1 SMART
LRR 372 391 1.2e-1 SMART
low complexity region 466 476 N/A INTRINSIC
low complexity region 692 705 N/A INTRINSIC
Blast:PDZ 708 736 1e-5 BLAST
low complexity region 787 797 N/A INTRINSIC
low complexity region 864 878 N/A INTRINSIC
Blast:PDZ 1302 1331 2e-11 BLAST
PDZ 1413 1493 6.4e-22 SMART
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 99% (78/79)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit limb grasping, reduced long term depression, increased anxiety, increased aggression towards other mice, impaired spatial memory, decreased prepulse inhibition, decreased nesting building behavior, and abnormal dendritic spines. [provided by MGI curators]
Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik G A 4: 73,861,087 (GRCm39) S171F probably damaging Het
A130010J15Rik T C 1: 192,857,406 (GRCm39) S253P probably damaging Het
Acbd5 T C 2: 22,970,370 (GRCm39) M97T possibly damaging Het
Aire T C 10: 77,873,809 (GRCm39) E300G probably damaging Het
Ano1 A G 7: 144,223,397 (GRCm39) S99P possibly damaging Het
Ap5z1 A G 5: 142,463,011 (GRCm39) N732D probably benign Het
Apcs A T 1: 172,722,004 (GRCm39) L114Q possibly damaging Het
Apmap T C 2: 150,431,886 (GRCm39) probably benign Het
Ark2c T C 18: 77,563,182 (GRCm39) E159G possibly damaging Het
Asxl3 C A 18: 22,649,547 (GRCm39) T512N possibly damaging Het
Atp1a4 T C 1: 172,072,491 (GRCm39) T388A probably damaging Het
B3galt9 A G 2: 34,728,636 (GRCm39) D145G probably damaging Het
Bcl2a1a A T 9: 88,839,503 (GRCm39) I134L probably damaging Het
Chd6 G A 2: 160,862,989 (GRCm39) A444V probably benign Het
Cmbl C A 15: 31,582,073 (GRCm39) H23Q probably benign Het
Cnnm2 T A 19: 46,750,996 (GRCm39) I262N probably damaging Het
Col6a3 C T 1: 90,715,673 (GRCm39) R2260H unknown Het
Cracr2a T A 6: 127,606,736 (GRCm39) L260* probably null Het
Csmd2 A G 4: 128,451,469 (GRCm39) Y3409C Het
Cyp4b1 C T 4: 115,493,169 (GRCm39) R225H possibly damaging Het
Dcdc2a C T 13: 25,386,266 (GRCm39) A380V probably benign Het
Dnah6 A G 6: 72,998,131 (GRCm39) L4097P probably damaging Het
Dppa3 G A 6: 122,605,602 (GRCm39) R52Q probably benign Het
Fbxo31 C T 8: 122,281,967 (GRCm39) R311H probably benign Het
Fhad1 T C 4: 141,656,885 (GRCm39) R90G probably damaging Het
Fitm2 A T 2: 163,311,602 (GRCm39) W204R possibly damaging Het
Gatb T A 3: 85,511,716 (GRCm39) L157H probably damaging Het
Gm5111 G A 6: 48,566,629 (GRCm39) probably null Het
Gm7298 A C 6: 121,748,788 (GRCm39) I688L probably benign Het
Hecw1 T C 13: 14,422,275 (GRCm39) probably null Het
Ift122 T A 6: 115,857,632 (GRCm39) V126E probably damaging Het
Iqcf6 A T 9: 106,504,698 (GRCm39) I121F possibly damaging Het
Kif21a A G 15: 90,852,382 (GRCm39) V902A probably damaging Het
Klhl38 T C 15: 58,178,435 (GRCm39) M512V probably benign Het
Klk1b1 A C 7: 43,619,747 (GRCm39) N102T probably damaging Het
Lama4 T A 10: 38,923,996 (GRCm39) L468Q probably damaging Het
Lilra5 A T 7: 4,241,165 (GRCm39) Q34L possibly damaging Het
Mapk7 G T 11: 61,384,632 (GRCm39) P25T probably benign Het
Mcm3ap C A 10: 76,306,538 (GRCm39) A217D probably benign Het
Mucl3 A T 17: 35,948,872 (GRCm39) F242L probably benign Het
Ncaph2 A G 15: 89,254,605 (GRCm39) E406G probably benign Het
Ncor2 T C 5: 125,179,739 (GRCm39) I69V unknown Het
Nfatc3 A G 8: 106,805,640 (GRCm39) S170G probably damaging Het
Nptn G A 9: 58,526,264 (GRCm39) R137Q probably damaging Het
Nsd1 A T 13: 55,430,570 (GRCm39) K1581N probably damaging Het
Or1q1 T C 2: 36,887,691 (GRCm39) Y290H probably damaging Het
Or2t43 A G 11: 58,457,562 (GRCm39) L203P probably damaging Het
Or51l4 G A 7: 103,403,893 (GRCm39) Q300* probably null Het
Or52ab2 T A 7: 102,970,449 (GRCm39) L277Q Het
Or5be3 G T 2: 86,863,803 (GRCm39) T254K probably damaging Het
Or6c211 A T 10: 129,505,628 (GRCm39) C253* probably null Het
Pdcl T C 2: 37,242,348 (GRCm39) E134G probably damaging Het
Pikfyve T A 1: 65,283,576 (GRCm39) Y738N probably damaging Het
Pkd1 A G 17: 24,792,807 (GRCm39) D1498G probably damaging Het
Plxna1 T C 6: 89,310,079 (GRCm39) N1029D probably benign Het
Ppp3cb C A 14: 20,596,517 (GRCm39) probably benign Het
Prkn A G 17: 11,456,448 (GRCm39) T91A probably benign Het
Rgs18 T A 1: 144,629,698 (GRCm39) D187V probably damaging Het
Ripor2 C T 13: 24,822,760 (GRCm39) probably benign Het
Rpl3l G A 17: 24,954,455 (GRCm39) G172D probably damaging Het
Sdf4 A G 4: 156,093,759 (GRCm39) T298A probably damaging Het
Skic3 C T 13: 76,279,428 (GRCm39) S620L probably damaging Het
Slc17a3 T C 13: 24,039,943 (GRCm39) V327A Het
Slc4a1ap T A 5: 31,708,059 (GRCm39) F677L probably benign Het
Stoml2 A G 4: 43,028,256 (GRCm39) V324A probably benign Het
Syne2 A G 12: 75,989,620 (GRCm39) Q1833R probably damaging Het
Syt6 A G 3: 103,534,371 (GRCm39) N481D possibly damaging Het
Tert T C 13: 73,776,566 (GRCm39) M439T probably benign Het
Thsd7a A T 6: 12,338,686 (GRCm39) D1181E Het
Tln2 G A 9: 67,237,832 (GRCm39) T33I probably damaging Het
Top3a A G 11: 60,633,481 (GRCm39) S872P probably benign Het
Trim10 T C 17: 37,181,048 (GRCm39) L93P probably benign Het
Trpc7 C T 13: 57,008,746 (GRCm39) S307N probably benign Het
Ttn A T 2: 76,640,427 (GRCm39) V13727E probably damaging Het
Vmn1r220 T C 13: 23,368,271 (GRCm39) S142G probably benign Het
Vmn1r32 A G 6: 66,530,651 (GRCm39) S42P probably damaging Het
Zc3h7b G A 15: 81,656,681 (GRCm39) R166Q probably benign Het
Zfp683 C T 4: 133,785,995 (GRCm39) T374I probably damaging Het
Other mutations in Lrrc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00594:Lrrc7 APN 3 157,892,647 (GRCm39) missense probably benign 0.07
IGL00644:Lrrc7 APN 3 157,908,005 (GRCm39) nonsense probably null
IGL00822:Lrrc7 APN 3 157,891,111 (GRCm39) missense probably damaging 0.99
IGL00927:Lrrc7 APN 3 157,866,727 (GRCm39) missense possibly damaging 0.94
IGL00946:Lrrc7 APN 3 157,866,993 (GRCm39) missense probably benign 0.07
IGL00948:Lrrc7 APN 3 157,867,194 (GRCm39) missense probably damaging 1.00
IGL01838:Lrrc7 APN 3 157,891,100 (GRCm39) missense probably damaging 1.00
IGL01874:Lrrc7 APN 3 157,946,080 (GRCm39) splice site probably benign
IGL02514:Lrrc7 APN 3 157,865,929 (GRCm39) missense probably damaging 0.96
IGL02545:Lrrc7 APN 3 157,891,011 (GRCm39) splice site probably benign
IGL02665:Lrrc7 APN 3 157,866,742 (GRCm39) missense probably damaging 0.99
IGL03129:Lrrc7 APN 3 157,866,696 (GRCm39) missense probably benign 0.02
N/A:Lrrc7 UTSW 3 157,865,977 (GRCm39) missense probably benign
R0021:Lrrc7 UTSW 3 157,866,298 (GRCm39) missense probably damaging 1.00
R0041:Lrrc7 UTSW 3 157,869,897 (GRCm39) splice site probably benign
R0255:Lrrc7 UTSW 3 157,866,475 (GRCm39) nonsense probably null
R0278:Lrrc7 UTSW 3 157,885,432 (GRCm39) missense possibly damaging 0.96
R0409:Lrrc7 UTSW 3 157,867,063 (GRCm39) missense possibly damaging 0.59
R0612:Lrrc7 UTSW 3 157,869,990 (GRCm39) missense probably damaging 0.98
R0866:Lrrc7 UTSW 3 157,869,903 (GRCm39) splice site probably benign
R1077:Lrrc7 UTSW 3 157,866,780 (GRCm39) missense probably damaging 1.00
R1103:Lrrc7 UTSW 3 157,854,343 (GRCm39) splice site probably benign
R1157:Lrrc7 UTSW 3 157,865,892 (GRCm39) missense probably damaging 1.00
R1187:Lrrc7 UTSW 3 157,866,039 (GRCm39) missense probably damaging 1.00
R1301:Lrrc7 UTSW 3 157,840,968 (GRCm39) missense probably benign 0.20
R1433:Lrrc7 UTSW 3 157,882,943 (GRCm39) missense probably damaging 1.00
R1450:Lrrc7 UTSW 3 157,892,681 (GRCm39) missense possibly damaging 0.62
R1595:Lrrc7 UTSW 3 157,882,914 (GRCm39) nonsense probably null
R1659:Lrrc7 UTSW 3 157,867,045 (GRCm39) missense probably damaging 1.00
R1693:Lrrc7 UTSW 3 157,790,170 (GRCm39) missense possibly damaging 0.95
R1774:Lrrc7 UTSW 3 157,865,929 (GRCm39) missense possibly damaging 0.88
R2273:Lrrc7 UTSW 3 157,892,696 (GRCm39) missense probably damaging 1.00
R2276:Lrrc7 UTSW 3 157,885,429 (GRCm39) missense probably damaging 1.00
R2302:Lrrc7 UTSW 3 157,840,881 (GRCm39) missense probably damaging 0.99
R2326:Lrrc7 UTSW 3 157,876,298 (GRCm39) missense probably damaging 1.00
R2371:Lrrc7 UTSW 3 157,866,697 (GRCm39) missense probably damaging 0.99
R2383:Lrrc7 UTSW 3 157,869,593 (GRCm39) missense probably benign
R2679:Lrrc7 UTSW 3 157,880,745 (GRCm39) nonsense probably null
R2698:Lrrc7 UTSW 3 157,841,028 (GRCm39) missense probably benign 0.22
R2858:Lrrc7 UTSW 3 157,867,362 (GRCm39) missense probably damaging 0.99
R3758:Lrrc7 UTSW 3 157,869,602 (GRCm39) missense probably damaging 1.00
R3791:Lrrc7 UTSW 3 157,869,593 (GRCm39) missense probably benign
R3805:Lrrc7 UTSW 3 157,891,130 (GRCm39) missense probably benign 0.10
R3806:Lrrc7 UTSW 3 157,891,130 (GRCm39) missense probably benign 0.10
R3807:Lrrc7 UTSW 3 157,891,130 (GRCm39) missense probably benign 0.10
R3892:Lrrc7 UTSW 3 157,866,333 (GRCm39) missense probably benign 0.08
R3912:Lrrc7 UTSW 3 157,997,589 (GRCm39) missense probably damaging 1.00
R3913:Lrrc7 UTSW 3 157,997,589 (GRCm39) missense probably damaging 1.00
R3963:Lrrc7 UTSW 3 157,866,042 (GRCm39) missense probably damaging 1.00
R4665:Lrrc7 UTSW 3 158,024,045 (GRCm39) critical splice donor site probably benign
R4666:Lrrc7 UTSW 3 158,024,045 (GRCm39) critical splice donor site probably benign
R4671:Lrrc7 UTSW 3 157,908,132 (GRCm39) critical splice acceptor site probably null
R4688:Lrrc7 UTSW 3 157,854,242 (GRCm39) missense probably damaging 1.00
R4725:Lrrc7 UTSW 3 158,024,045 (GRCm39) critical splice donor site probably benign
R4726:Lrrc7 UTSW 3 158,024,045 (GRCm39) critical splice donor site probably benign
R4728:Lrrc7 UTSW 3 158,024,045 (GRCm39) critical splice donor site probably benign
R4783:Lrrc7 UTSW 3 157,832,850 (GRCm39) critical splice donor site probably null
R4867:Lrrc7 UTSW 3 157,866,642 (GRCm39) missense probably damaging 1.00
R4907:Lrrc7 UTSW 3 157,866,877 (GRCm39) missense probably damaging 1.00
R5032:Lrrc7 UTSW 3 157,887,217 (GRCm39) missense possibly damaging 0.85
R5107:Lrrc7 UTSW 3 157,867,533 (GRCm39) missense probably damaging 1.00
R5295:Lrrc7 UTSW 3 157,876,376 (GRCm39) missense probably damaging 1.00
R5348:Lrrc7 UTSW 3 157,880,963 (GRCm39) missense probably benign 0.02
R5468:Lrrc7 UTSW 3 158,024,073 (GRCm39) missense probably damaging 1.00
R5778:Lrrc7 UTSW 3 157,876,380 (GRCm39) missense probably damaging 1.00
R5897:Lrrc7 UTSW 3 157,869,990 (GRCm39) missense probably damaging 0.98
R6179:Lrrc7 UTSW 3 158,059,069 (GRCm39) missense probably damaging 0.99
R6312:Lrrc7 UTSW 3 157,866,246 (GRCm39) missense probably benign 0.04
R6313:Lrrc7 UTSW 3 157,866,373 (GRCm39) missense probably damaging 1.00
R6366:Lrrc7 UTSW 3 157,841,012 (GRCm39) missense probably benign 0.04
R6389:Lrrc7 UTSW 3 157,891,063 (GRCm39) missense probably damaging 1.00
R6638:Lrrc7 UTSW 3 157,840,940 (GRCm39) missense probably benign 0.20
R6956:Lrrc7 UTSW 3 157,994,668 (GRCm39) missense probably benign 0.02
R6969:Lrrc7 UTSW 3 157,862,550 (GRCm39) missense probably benign 0.19
R7073:Lrrc7 UTSW 3 157,832,884 (GRCm39) missense probably damaging 1.00
R7313:Lrrc7 UTSW 3 157,866,111 (GRCm39) missense probably damaging 1.00
R7365:Lrrc7 UTSW 3 157,903,798 (GRCm39) missense probably damaging 1.00
R7398:Lrrc7 UTSW 3 157,997,595 (GRCm39) nonsense probably null
R7403:Lrrc7 UTSW 3 157,854,311 (GRCm39) nonsense probably null
R7407:Lrrc7 UTSW 3 157,840,878 (GRCm39) missense probably damaging 1.00
R7427:Lrrc7 UTSW 3 157,903,778 (GRCm39) missense probably benign 0.06
R7453:Lrrc7 UTSW 3 157,891,046 (GRCm39) missense probably benign 0.00
R7461:Lrrc7 UTSW 3 157,892,657 (GRCm39) missense probably benign 0.00
R7807:Lrrc7 UTSW 3 157,866,124 (GRCm39) missense probably damaging 1.00
R7872:Lrrc7 UTSW 3 158,059,099 (GRCm39) missense probably damaging 0.99
R8215:Lrrc7 UTSW 3 157,915,387 (GRCm39) missense probably benign
R8367:Lrrc7 UTSW 3 157,908,007 (GRCm39) missense possibly damaging 0.80
R8880:Lrrc7 UTSW 3 157,867,381 (GRCm39) missense probably damaging 0.99
R8941:Lrrc7 UTSW 3 157,869,593 (GRCm39) missense probably benign
R8958:Lrrc7 UTSW 3 157,946,138 (GRCm39) missense probably benign 0.02
R9068:Lrrc7 UTSW 3 157,946,138 (GRCm39) missense probably benign 0.02
R9069:Lrrc7 UTSW 3 157,946,138 (GRCm39) missense probably benign 0.02
R9180:Lrrc7 UTSW 3 157,867,011 (GRCm39) missense possibly damaging 0.61
R9193:Lrrc7 UTSW 3 158,059,011 (GRCm39) nonsense probably null
R9309:Lrrc7 UTSW 3 157,915,361 (GRCm39) nonsense probably null
R9418:Lrrc7 UTSW 3 157,908,023 (GRCm39) missense possibly damaging 0.66
R9474:Lrrc7 UTSW 3 157,841,028 (GRCm39) missense probably benign 0.22
R9515:Lrrc7 UTSW 3 157,867,105 (GRCm39) missense probably damaging 1.00
R9635:Lrrc7 UTSW 3 157,946,138 (GRCm39) missense probably benign 0.02
R9639:Lrrc7 UTSW 3 157,946,138 (GRCm39) missense probably benign 0.02
R9682:Lrrc7 UTSW 3 157,882,954 (GRCm39) missense possibly damaging 0.92
R9731:Lrrc7 UTSW 3 157,880,888 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACGCTTCTAGCCTTGGAAC -3'
(R):5'- AGTCAGAGCCGGTTAAACTG -3'

Sequencing Primer
(F):5'- CGCTTCTAGCCTTGGAACTTAAGAG -3'
(R):5'- TGTGGTGAAATAATGTGACTTTAACC -3'
Posted On 2021-07-15