Incidental Mutation 'R8880:Lrrc7'
ID 676822
Institutional Source Beutler Lab
Gene Symbol Lrrc7
Ensembl Gene ENSMUSG00000028176
Gene Name leucine rich repeat containing 7
Synonyms densin
MMRRC Submission 068748-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.798) question?
Stock # R8880 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 157788528-158267858 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 157867381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 787 (E787K)
Ref Sequence ENSEMBL: ENSMUSP00000142498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106044] [ENSMUST00000199890] [ENSMUST00000200137]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000106044
AA Change: E787K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101659
Gene: ENSMUSG00000028176
AA Change: E787K

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 probably damaging
Transcript: ENSMUST00000199890
AA Change: E787K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142440
Gene: ENSMUSG00000028176
AA Change: E787K

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: E787K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142498
Gene: ENSMUSG00000028176
AA Change: E787K

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
Meta Mutation Damage Score 0.0978 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (82/82)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik C T 14: 32,382,837 (GRCm39) V1043I probably benign Het
5031439G07Rik T A 15: 84,839,867 (GRCm39) I176F possibly damaging Het
Adam6b T A 12: 113,454,764 (GRCm39) M527K probably benign Het
Atp10b C T 11: 43,106,811 (GRCm39) T615I probably benign Het
Atxn2 A G 5: 121,948,973 (GRCm39) T1117A probably benign Het
AU021092 A T 16: 5,032,585 (GRCm39) probably benign Het
Bcam C T 7: 19,492,671 (GRCm39) V505M probably damaging Het
Bco2 A T 9: 50,461,962 (GRCm39) L14Q probably damaging Het
Caps2 T G 10: 112,030,824 (GRCm39) probably benign Het
Cblb T C 16: 51,986,368 (GRCm39) V537A probably benign Het
Ccdc141 A T 2: 76,845,556 (GRCm39) N1170K probably benign Het
Ccdc154 T G 17: 25,389,129 (GRCm39) D442E probably benign Het
Col24a1 A G 3: 145,019,798 (GRCm39) I60V probably null Het
Crb1 A T 1: 139,164,886 (GRCm39) N1140K probably benign Het
Ddhd1 G A 14: 45,846,430 (GRCm39) P621S probably benign Het
Ddx46 A T 13: 55,814,033 (GRCm39) N663I probably benign Het
Dgki C T 6: 37,011,652 (GRCm39) probably benign Het
Disp2 T C 2: 118,621,239 (GRCm39) F657S probably damaging Het
Dnajc2 T C 5: 21,973,670 (GRCm39) E262G probably damaging Het
Dvl2 T A 11: 69,898,761 (GRCm39) L408Q possibly damaging Het
Egflam T C 15: 7,267,249 (GRCm39) D712G probably damaging Het
Entpd7 A G 19: 43,692,846 (GRCm39) probably benign Het
Epb41 A T 4: 131,695,104 (GRCm39) W28R Het
Fabp9 C T 3: 10,262,231 (GRCm39) probably benign Het
Fkbp15 T A 4: 62,232,602 (GRCm39) M657L probably benign Het
Gfy A C 7: 44,827,784 (GRCm39) L104R possibly damaging Het
Gm4884 A T 7: 40,693,911 (GRCm39) I627F probably damaging Het
Gm9195 A T 14: 72,691,320 (GRCm39) S1643T unknown Het
Gpsm2 C T 3: 108,610,335 (GRCm39) A42T possibly damaging Het
Gvin2 T C 7: 105,551,120 (GRCm39) K644R probably benign Het
Gys2 T C 6: 142,402,113 (GRCm39) Y242C probably damaging Het
Hbs1l A G 10: 21,185,868 (GRCm39) N430S probably damaging Het
Idh3b A T 2: 130,126,004 (GRCm39) probably benign Het
Igdcc3 C T 9: 65,088,550 (GRCm39) A384V probably benign Het
Ighv3-4 C T 12: 114,217,535 (GRCm39) D19N possibly damaging Het
Igkv19-93 G T 6: 68,713,494 (GRCm39) A45E probably damaging Het
Il10ra G A 9: 45,175,631 (GRCm39) T230M probably damaging Het
Kalrn A G 16: 34,038,305 (GRCm39) V1009A probably damaging Het
Kcnma1 G T 14: 23,417,718 (GRCm39) A837D probably damaging Het
Kif7 T A 7: 79,348,650 (GRCm39) R1231S probably benign Het
Klhdc1 A G 12: 69,298,817 (GRCm39) D134G possibly damaging Het
Klk14 T C 7: 43,343,459 (GRCm39) V97A probably damaging Het
Lamb3 G A 1: 193,003,363 (GRCm39) V101M possibly damaging Het
Mep1a A G 17: 43,808,808 (GRCm39) I94T possibly damaging Het
Mtrex T A 13: 113,051,034 (GRCm39) K180N probably benign Het
Ncr1 C T 7: 4,341,336 (GRCm39) S109L probably benign Het
Nell2 A T 15: 95,129,329 (GRCm39) M678K probably damaging Het
Or12j5 C A 7: 140,084,172 (GRCm39) A67S probably benign Het
Or14c42-ps1 G A 7: 86,211,549 (GRCm39) C203Y unknown Het
Or2m13 A T 16: 19,226,396 (GRCm39) Y123* probably null Het
Or8g19 T A 9: 39,055,899 (GRCm39) F168I probably damaging Het
Pnpla1 A C 17: 29,098,438 (GRCm39) Y248S probably damaging Het
Pramel27 T C 4: 143,573,140 (GRCm39) probably null Het
Prdm10 T C 9: 31,264,742 (GRCm39) F726L probably damaging Het
Prdm16 T C 4: 154,613,370 (GRCm39) N19S probably damaging Het
Prss44 A G 9: 110,643,263 (GRCm39) R53G probably benign Het
Rasgrp1 C T 2: 117,115,425 (GRCm39) R721Q probably benign Het
Rassf1 A T 9: 107,434,740 (GRCm39) N149I probably damaging Het
Rbp3 A C 14: 33,678,796 (GRCm39) T915P probably benign Het
Reg3g A T 6: 78,444,788 (GRCm39) D63E probably benign Het
Relch T C 1: 105,592,220 (GRCm39) Y130H probably damaging Het
Rgs3 C A 4: 62,543,373 (GRCm39) T236K probably damaging Het
Rin2 T C 2: 145,690,772 (GRCm39) F147L probably damaging Het
Slc17a1 T C 13: 24,062,732 (GRCm39) I266T probably benign Het
Slc34a3 A T 2: 25,119,267 (GRCm39) N534K probably benign Het
Smc2 A T 4: 52,462,856 (GRCm39) E615D probably benign Het
Snx16 A C 3: 10,484,193 (GRCm39) D343E probably benign Het
St18 T A 1: 6,865,619 (GRCm39) Y32* probably null Het
Svep1 C T 4: 58,064,204 (GRCm39) V3260I possibly damaging Het
Synm C T 7: 67,386,456 (GRCm39) R402H possibly damaging Het
Tacc2 A T 7: 130,318,564 (GRCm39) E67V possibly damaging Het
Tarbp1 G T 8: 127,198,044 (GRCm39) N302K probably damaging Het
Tenm2 A G 11: 35,942,788 (GRCm39) S1294P probably damaging Het
Ttk T C 9: 83,751,304 (GRCm39) S794P probably damaging Het
Ulk1 G A 5: 110,934,288 (GRCm39) A999V probably damaging Het
Upf2 A G 2: 6,030,983 (GRCm39) I808V unknown Het
Ush2a A G 1: 188,460,733 (GRCm39) T2665A probably benign Het
Usp8 A G 2: 126,590,229 (GRCm39) K672E probably damaging Het
Vmn2r105 T A 17: 20,429,229 (GRCm39) I616F probably damaging Het
Vps33a T C 5: 123,707,506 (GRCm39) M154V probably damaging Het
Wdfy4 A C 14: 32,795,492 (GRCm39) Y2083* probably null Het
Zc3hav1 A G 6: 38,288,212 (GRCm39) F875L probably benign Het
Zfp979 T C 4: 147,697,836 (GRCm39) N291S probably benign Het
Zp2 T A 7: 119,742,835 (GRCm39) Y99F possibly 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
R8867:Lrrc7 UTSW 3 157,867,521 (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'- CAAATGGACTGGGAGTTCTGG -3'
(R):5'- CCTGCTTGTGTTCACAGGATTG -3'

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