Incidental Mutation 'IGL03194:Lrrc6'
ID 412738
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc6
Ensembl Gene ENSMUSG00000022375
Gene Name leucine rich repeat containing 6 (testis)
Synonyms LRTP
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.137) question?
Stock # IGL03194
Quality Score
Status
Chromosome 15
Chromosomal Location 66379858-66500910 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 66442199 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 317 (D317E)
Ref Sequence ENSEMBL: ENSMUSP00000023006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023006]
AlphaFold O88978
Predicted Effect probably benign
Transcript: ENSMUST00000023006
AA Change: D317E

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000023006
Gene: ENSMUSG00000022375
AA Change: D317E

DomainStartEndE-ValueType
internal_repeat_1 23 65 8.03e-6 PROSPERO
internal_repeat_1 68 109 8.03e-6 PROSPERO
LRRcap 128 146 2.42e-2 SMART
low complexity region 178 204 N/A INTRINSIC
low complexity region 277 290 N/A INTRINSIC
low complexity region 397 408 N/A INTRINSIC
low complexity region 449 471 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.] The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 11 and 22. [provided by RefSeq, Apr 2016]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T C 8: 83,734,018 S64G possibly damaging Het
Clcn7 T C 17: 25,150,548 V306A probably damaging Het
Clec4b2 G A 6: 123,200,987 G87D probably benign Het
Disp2 A T 2: 118,787,629 R219W probably damaging Het
Dstyk A T 1: 132,456,316 probably benign Het
F830045P16Rik T C 2: 129,460,320 S451G possibly damaging Het
Fam155a T C 8: 9,232,975 D358G probably damaging Het
Fat2 T A 11: 55,310,995 T418S probably benign Het
Fto G A 8: 91,409,787 D228N probably damaging Het
Gins4 A T 8: 23,234,746 probably benign Het
Gm10220 T A 5: 26,121,233 R40W probably damaging Het
Gm11149 G A 9: 49,546,346 probably benign Het
Gm5431 T G 11: 48,895,537 probably benign Het
Hebp1 A G 6: 135,155,192 M59T probably benign Het
Lrp1 A T 10: 127,568,685 V1989D probably damaging Het
Ltc4s T C 11: 50,236,571 *151W probably null Het
Map3k21 A G 8: 125,924,062 T268A possibly damaging Het
Mdp1 A G 14: 55,658,987 L164P probably damaging Het
Mroh4 T C 15: 74,611,539 T650A probably damaging Het
Mss51 T C 14: 20,485,097 N202D probably benign Het
Mtus2 G A 5: 148,107,103 A834T probably damaging Het
Ncoa6 A G 2: 155,415,868 M585T possibly damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Npvf A C 6: 50,650,898 D180E possibly damaging Het
Nup188 A T 2: 30,304,334 Y173F possibly damaging Het
Oas3 C A 5: 120,758,953 A868S probably damaging Het
Pkhd1l1 A G 15: 44,518,135 T1086A probably damaging Het
Pla2g6 G A 15: 79,317,785 P62L probably damaging Het
Rara T C 11: 98,971,664 M297T possibly damaging Het
Tmc1 T C 19: 20,804,653 E567G probably damaging Het
Tnxb C T 17: 34,695,947 Q1970* probably null Het
Usp11 T C X: 20,712,417 I162T probably benign Het
Utrn A G 10: 12,406,429 probably benign Het
Zfhx3 A G 8: 108,794,727 E827G probably damaging Het
Other mutations in Lrrc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01292:Lrrc6 APN 15 66481233 splice site probably benign
IGL01313:Lrrc6 APN 15 66380513 missense probably benign 0.00
IGL01739:Lrrc6 APN 15 66449477 missense probably benign
IGL01863:Lrrc6 APN 15 66396974 splice site probably benign
IGL02074:Lrrc6 APN 15 66489490 missense probably damaging 1.00
IGL02146:Lrrc6 APN 15 66489525 nonsense probably null
IGL02146:Lrrc6 APN 15 66489526 missense probably benign 0.08
droopy UTSW 15 66447676 splice site probably benign
R0087:Lrrc6 UTSW 15 66469975 missense probably benign 0.00
R0178:Lrrc6 UTSW 15 66454101 missense probably benign 0.05
R0463:Lrrc6 UTSW 15 66380474 missense probably benign
R0539:Lrrc6 UTSW 15 66447606 missense probably damaging 0.99
R0608:Lrrc6 UTSW 15 66380474 missense probably benign
R1124:Lrrc6 UTSW 15 66438415 missense possibly damaging 0.92
R2209:Lrrc6 UTSW 15 66449551 missense probably benign 0.00
R2257:Lrrc6 UTSW 15 66437587 splice site probably benign
R2844:Lrrc6 UTSW 15 66447676 splice site probably benign
R2867:Lrrc6 UTSW 15 66438408 nonsense probably null
R2867:Lrrc6 UTSW 15 66438408 nonsense probably null
R4281:Lrrc6 UTSW 15 66380529 missense probably benign 0.35
R5163:Lrrc6 UTSW 15 66442218 missense probably benign 0.01
R5636:Lrrc6 UTSW 15 66500816 splice site probably null
R6365:Lrrc6 UTSW 15 66454134 missense probably benign 0.00
R6567:Lrrc6 UTSW 15 66438379 missense probably benign 0.43
R7751:Lrrc6 UTSW 15 66449563 missense probably benign 0.00
R7774:Lrrc6 UTSW 15 66449552 missense probably benign 0.01
R7963:Lrrc6 UTSW 15 66380517 missense probably damaging 1.00
R9018:Lrrc6 UTSW 15 66449630 missense probably benign 0.01
R9499:Lrrc6 UTSW 15 66489634 missense probably damaging 0.97
Z1177:Lrrc6 UTSW 15 66469899 missense probably damaging 0.97
Posted On 2016-08-02