Incidental Mutation 'R5468:Lrrc7'
ID 501077
Institutional Source Beutler Lab
Gene Symbol Lrrc7
Ensembl Gene ENSMUSG00000028176
Gene Name leucine rich repeat containing 7
Synonyms densin
MMRRC Submission 043029-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.748) question?
Stock # R5468 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 157788528-158267858 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 158024073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 107 (N107K)
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: N107K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101659
Gene: ENSMUSG00000028176
AA Change: N107K

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: N107K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142440
Gene: ENSMUSG00000028176
AA Change: N107K

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: N107K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142498
Gene: ENSMUSG00000028176
AA Change: N107K

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 probably damaging
Transcript: ENSMUST00000200196
AA Change: N95K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 91.0%
Validation Efficiency
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik C T 7: 44,009,659 (GRCm39) R181Q probably damaging Het
Abca13 T A 11: 9,244,062 (GRCm39) L1975Q probably damaging Het
Acp2 T A 2: 91,036,443 (GRCm39) I180N probably benign Het
Adam12 T C 7: 133,577,202 (GRCm39) D221G probably damaging Het
Adamts4 A G 1: 171,080,178 (GRCm39) T244A probably benign Het
Adrb2 A T 18: 62,312,696 (GRCm39) I43N probably damaging Het
Anxa1 A T 19: 20,355,847 (GRCm39) Y207N probably damaging Het
Apba2 T C 7: 64,395,510 (GRCm39) L662P probably damaging Het
Arhgap18 T A 10: 26,788,667 (GRCm39) I593K probably damaging Het
Arsj T C 3: 126,232,037 (GRCm39) V261A possibly damaging Het
Atp7b A T 8: 22,549,986 (GRCm39) probably null Het
C2cd2 C T 16: 97,669,791 (GRCm39) probably null Het
Cenpf A T 1: 189,384,568 (GRCm39) S2571T probably damaging Het
Cep162 A C 9: 87,109,290 (GRCm39) L438V probably benign Het
Cfap74 A T 4: 155,510,498 (GRCm39) N361I probably benign Het
Cntn5 A G 9: 9,743,633 (GRCm39) I548T probably damaging Het
Cracd A T 5: 76,988,610 (GRCm39) probably benign Het
Dglucy A G 12: 100,816,594 (GRCm39) N382S probably benign Het
Dnah10 C A 5: 124,907,557 (GRCm39) N4306K probably damaging Het
Fam181a A T 12: 103,282,937 (GRCm39) M281L probably benign Het
Fam186b A G 15: 99,176,751 (GRCm39) I713T possibly damaging Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Fry A T 5: 150,323,053 (GRCm39) Y1068F probably benign Het
Fubp3 A G 2: 31,493,247 (GRCm39) I231V probably benign Het
Gbf1 A G 19: 46,272,735 (GRCm39) D1681G possibly damaging Het
Gm10999 G A 8: 129,858,130 (GRCm39) P5S probably damaging Het
Gm12689 T C 4: 99,184,402 (GRCm39) I85T unknown Het
Impg1 T C 9: 80,347,318 (GRCm39) I9V probably benign Het
Lama4 A G 10: 38,948,678 (GRCm39) probably null Het
Lamc1 A G 1: 153,109,310 (GRCm39) S1161P probably damaging Het
Lipm T A 19: 34,086,954 (GRCm39) probably null Het
Lypd8 T C 11: 58,277,586 (GRCm39) S123P probably damaging Het
Man2a2 T C 7: 80,002,729 (GRCm39) D1084G probably damaging Het
Man2b2 A G 5: 36,964,519 (GRCm39) S1000P probably benign Het
Ms4a7 C T 19: 11,299,778 (GRCm39) C71Y probably benign Het
Mtus1 A G 8: 41,537,615 (GRCm39) S34P probably benign Het
Myo3b A G 2: 70,064,785 (GRCm39) N406S probably benign Het
Nbr1 A T 11: 101,463,290 (GRCm39) M586L probably benign Het
Nfatc1 C T 18: 80,693,070 (GRCm39) R677H probably benign Het
Nlrc3 A C 16: 3,781,899 (GRCm39) S503R probably damaging Het
Nlrp9c A T 7: 26,064,425 (GRCm39) F968I probably benign Het
Onecut1 A T 9: 74,770,614 (GRCm39) T346S probably damaging Het
Or1j12 A T 2: 36,343,455 (GRCm39) N286I probably damaging Het
Or8b35 G A 9: 37,904,307 (GRCm39) C168Y probably damaging Het
Or8g32 A G 9: 39,305,257 (GRCm39) N57D probably benign Het
Pclo A T 5: 14,730,966 (GRCm39) K3156M unknown Het
Pigo C T 4: 43,024,562 (GRCm39) probably null Het
Plcb4 T C 2: 135,809,072 (GRCm39) F580S probably damaging Het
Plekhm2 G T 4: 141,355,411 (GRCm39) P879H probably damaging Het
Ppm1e T A 11: 87,121,716 (GRCm39) Y747F probably benign Het
Ppwd1 A G 13: 104,361,952 (GRCm39) F69L possibly damaging Het
Prss27 C A 17: 24,257,287 (GRCm39) Q3K possibly damaging Het
Prss29 T A 17: 25,540,020 (GRCm39) N139K possibly damaging Het
Qrich2 T A 11: 116,339,191 (GRCm39) T1777S probably damaging Het
Rbp3 A T 14: 33,678,584 (GRCm39) H844L possibly damaging Het
Rubcnl G A 14: 75,269,471 (GRCm39) C43Y possibly damaging Het
Sec14l5 A G 16: 4,985,004 (GRCm39) probably null Het
Sepsecs A T 5: 52,801,356 (GRCm39) N435K probably damaging Het
Sfrp1 A G 8: 23,936,226 (GRCm39) K223E probably benign Het
Sh3tc2 G A 18: 62,106,502 (GRCm39) probably null Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Tmprss7 A G 16: 45,476,811 (GRCm39) F817S probably damaging Het
Tril T C 6: 53,796,632 (GRCm39) N197D probably damaging Het
Tspan18 T C 2: 93,040,207 (GRCm39) T183A probably benign Het
Uroc1 A T 6: 90,315,586 (GRCm39) M156L probably benign Het
Wnt16 T C 6: 22,291,160 (GRCm39) V196A probably benign Het
Xpnpep1 A G 19: 52,983,950 (GRCm39) Y592H probably benign Het
Zfp553 T C 7: 126,836,202 (GRCm39) S586P probably benign Het
Zfp619 C T 7: 39,185,152 (GRCm39) A394V unknown Het
Zfp985 A G 4: 147,667,702 (GRCm39) Y190C probably benign Het
Zmynd10 T A 9: 107,427,536 (GRCm39) D309E probably benign Het
Zmynd15 T C 11: 70,352,646 (GRCm39) L73P 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
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
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'- ATGCTCTGAAAATGAGGATGAACC -3'
(R):5'- AGTGAGTCTAGCCAAACTGTG -3'

Sequencing Primer
(F):5'- TAGAATGCATATCTGAGTTGAGTGAG -3'
(R):5'- CCAAACTGTGGCCTAACTAGTGAG -3'
Posted On 2017-12-01