Incidental Mutation 'IGL03410:Lrrc4'
ID 421761
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc4
Ensembl Gene ENSMUSG00000049939
Gene Name leucine rich repeat containing 4
Synonyms Nag14, NGL-2, NGL2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.208) question?
Stock # IGL03410
Quality Score
Status
Chromosome 6
Chromosomal Location 28828125-28831746 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 28830515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 367 (R367W)
Ref Sequence ENSEMBL: ENSMUSP00000062158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001460] [ENSMUST00000062304] [ENSMUST00000164915] [ENSMUST00000167201] [ENSMUST00000171353]
AlphaFold Q99PH1
Predicted Effect probably benign
Transcript: ENSMUST00000001460
SMART Domains Protein: ENSMUSP00000001460
Gene: ENSMUSG00000001424

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
SNc 18 166 7.12e-54 SMART
SNc 193 328 8.37e-51 SMART
SNc 341 496 4.11e-59 SMART
SNc 525 660 3.82e-45 SMART
TUDOR 728 785 4.8e-19 SMART
Pfam:SNase 835 895 1.3e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000062304
AA Change: R367W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000062158
Gene: ENSMUSG00000049939
AA Change: R367W

DomainStartEndE-ValueType
low complexity region 32 40 N/A INTRINSIC
LRRNT 44 78 4.05e-5 SMART
LRR 72 96 1.19e2 SMART
LRR_TYP 97 120 2.24e-3 SMART
LRR 121 144 6.13e-1 SMART
LRR_TYP 145 168 5.99e-4 SMART
LRR 216 239 1.25e-1 SMART
LRR 240 263 4.71e1 SMART
LRR_TYP 264 287 2.79e-4 SMART
LRRCT 299 350 8.06e-6 SMART
IGc2 364 430 5.24e-7 SMART
low complexity region 452 462 N/A INTRINSIC
transmembrane domain 527 549 N/A INTRINSIC
low complexity region 575 586 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164915
SMART Domains Protein: ENSMUSP00000127317
Gene: ENSMUSG00000001424

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
SNc 18 142 1.56e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167201
SMART Domains Protein: ENSMUSP00000128737
Gene: ENSMUSG00000001424

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
SNc 18 166 7.12e-54 SMART
SNc 193 328 8.37e-51 SMART
SNc 341 496 4.11e-59 SMART
SCOP:d1sty__ 526 592 1e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169579
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171195
Predicted Effect probably benign
Transcript: ENSMUST00000171353
SMART Domains Protein: ENSMUSP00000129497
Gene: ENSMUSG00000049939

DomainStartEndE-ValueType
low complexity region 29 39 N/A INTRINSIC
transmembrane domain 104 126 N/A INTRINSIC
low complexity region 152 163 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is significantly downregulated in primary brain tumors. The exact function of the protein encoded by this gene is unknown. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit hyperactivity, an absence of startle reflex, and abnormal ABR amplitude. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,220,728 (GRCm39) V409E probably damaging Het
1700086D15Rik A G 11: 65,043,393 (GRCm39) probably benign Het
Apba1 A G 19: 23,914,945 (GRCm39) N715S possibly damaging Het
Arfgef3 G T 10: 18,476,238 (GRCm39) A1527D probably damaging Het
Cmtm2a G T 8: 105,010,501 (GRCm39) P133T probably damaging Het
Cyp2d9 T C 15: 82,340,900 (GRCm39) V483A probably benign Het
Dclre1b T A 3: 103,715,456 (GRCm39) D14V probably damaging Het
Dock5 T C 14: 68,083,535 (GRCm39) I125V probably benign Het
Dok3 G T 13: 55,672,044 (GRCm39) Y211* probably null Het
Fat4 T C 3: 38,945,325 (GRCm39) V1406A probably damaging Het
Fbn2 A G 18: 58,183,315 (GRCm39) F1790S possibly damaging Het
Gm4787 A T 12: 81,425,948 (GRCm39) M70K probably damaging Het
Gulp1 A T 1: 44,747,777 (GRCm39) D10V probably damaging Het
Hagh T C 17: 25,079,916 (GRCm39) probably benign Het
Htt A G 5: 34,956,789 (GRCm39) E206G probably damaging Het
Hyou1 A G 9: 44,299,355 (GRCm39) E682G probably benign Het
Ift56 T C 6: 38,362,435 (GRCm39) L70P probably damaging Het
Igkv4-59 G T 6: 69,415,450 (GRCm39) A35E probably damaging Het
Krt78 A G 15: 101,862,421 (GRCm39) V80A probably damaging Het
Lars2 G A 9: 123,247,841 (GRCm39) A333T possibly damaging Het
Med1 A T 11: 98,080,009 (GRCm39) M44K possibly damaging Het
Mep1a T A 17: 43,788,986 (GRCm39) probably null Het
Mmrn1 A G 6: 60,952,819 (GRCm39) I367V probably benign Het
Myo18a T C 11: 77,738,830 (GRCm39) L1677P probably damaging Het
Neb T C 2: 52,209,717 (GRCm39) T246A probably benign Het
Nkiras1 A G 14: 18,280,073 (GRCm38) R155G probably benign Het
Nrip1 T C 16: 76,089,379 (GRCm39) N726S probably benign Het
Nyap2 A G 1: 81,219,156 (GRCm39) T393A possibly damaging Het
Oprm1 A T 10: 6,780,051 (GRCm39) I238F probably damaging Het
Or4b1b A G 2: 90,112,557 (GRCm39) Y121H probably damaging Het
Or4b1d G A 2: 89,969,489 (GRCm39) probably benign Het
Or5m11b T A 2: 85,805,764 (GRCm39) M59K probably damaging Het
Pcnx2 T A 8: 126,613,779 (GRCm39) E557D probably damaging Het
Pole A G 5: 110,472,425 (GRCm39) I1563V probably benign Het
Pramel21 C A 4: 143,341,851 (GRCm39) H93Q probably benign Het
Prdx3 T G 19: 60,859,848 (GRCm39) probably benign Het
Rgsl1 C T 1: 153,669,501 (GRCm39) R295K probably null Het
Rhbdl2 T A 4: 123,723,463 (GRCm39) L289* probably null Het
Rnps1 A G 17: 24,640,835 (GRCm39) probably benign Het
Rpgrip1 A G 14: 52,395,823 (GRCm39) probably benign Het
Ryr2 A T 13: 11,603,033 (GRCm39) Y4518N probably damaging Het
Scyl3 A G 1: 163,772,436 (GRCm39) N296S probably damaging Het
Sipa1l3 G A 7: 29,047,964 (GRCm39) T1308M probably damaging Het
Slc39a9 A G 12: 80,691,662 (GRCm39) D3G probably damaging Het
Slc4a9 A G 18: 36,662,740 (GRCm39) E165G probably benign Het
Slc6a3 A T 13: 73,686,776 (GRCm39) I48F probably benign Het
Stxbp3 C T 3: 108,709,476 (GRCm39) C354Y probably damaging Het
Terb1 C A 8: 105,199,674 (GRCm39) probably benign Het
Tfrc G A 16: 32,443,649 (GRCm39) probably null Het
Toporsl A C 4: 52,611,134 (GRCm39) R342S probably benign Het
Ube2d3 T A 3: 135,170,978 (GRCm39) W141R probably damaging Het
Vps13b G T 15: 35,910,486 (GRCm39) V3417L probably benign Het
Other mutations in Lrrc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02230:Lrrc4 APN 6 28,830,879 (GRCm39) missense probably damaging 0.99
IGL03223:Lrrc4 APN 6 28,831,469 (GRCm39) missense probably damaging 1.00
R0233:Lrrc4 UTSW 6 28,829,734 (GRCm39) missense probably benign 0.05
R0233:Lrrc4 UTSW 6 28,829,734 (GRCm39) missense probably benign 0.05
R0456:Lrrc4 UTSW 6 28,831,103 (GRCm39) missense probably damaging 1.00
R1162:Lrrc4 UTSW 6 28,831,083 (GRCm39) missense probably damaging 1.00
R2001:Lrrc4 UTSW 6 28,830,904 (GRCm39) missense probably damaging 1.00
R2089:Lrrc4 UTSW 6 28,830,586 (GRCm39) missense probably benign 0.45
R2091:Lrrc4 UTSW 6 28,830,586 (GRCm39) missense probably benign 0.45
R2091:Lrrc4 UTSW 6 28,830,586 (GRCm39) missense probably benign 0.45
R2353:Lrrc4 UTSW 6 28,831,451 (GRCm39) missense probably benign 0.00
R5079:Lrrc4 UTSW 6 28,830,769 (GRCm39) missense possibly damaging 0.69
R5197:Lrrc4 UTSW 6 28,830,142 (GRCm39) missense probably damaging 1.00
R6701:Lrrc4 UTSW 6 28,830,905 (GRCm39) missense possibly damaging 0.95
R6755:Lrrc4 UTSW 6 28,831,292 (GRCm39) missense probably damaging 1.00
R7660:Lrrc4 UTSW 6 28,829,816 (GRCm39) missense probably benign 0.00
R7661:Lrrc4 UTSW 6 28,829,762 (GRCm39) missense probably benign 0.00
R8113:Lrrc4 UTSW 6 28,829,902 (GRCm39) missense probably damaging 0.97
R8272:Lrrc4 UTSW 6 28,662,192 (GRCm39) missense unknown
R9074:Lrrc4 UTSW 6 28,831,595 (GRCm39) missense probably damaging 0.99
R9094:Lrrc4 UTSW 6 28,830,206 (GRCm39) missense possibly damaging 0.92
R9197:Lrrc4 UTSW 6 28,831,318 (GRCm39) missense probably benign 0.01
R9447:Lrrc4 UTSW 6 28,830,650 (GRCm39) missense probably benign 0.08
R9803:Lrrc4 UTSW 6 28,662,199 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02