Incidental Mutation 'R8209:Lrch4'
ID 636055
Institutional Source Beutler Lab
Gene Symbol Lrch4
Ensembl Gene ENSMUSG00000093445
Gene Name leucine-rich repeats and calponin homology (CH) domain containing 4
Synonyms LRRN4, LRN, 2810008P14Rik, 2900069C24Rik
MMRRC Submission 067632-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R8209 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 137627385-137639361 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137637997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 93 (H93R)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031734] [ENSMUST00000057314] [ENSMUST00000166099] [ENSMUST00000175968] [ENSMUST00000176667] [ENSMUST00000177466] [ENSMUST00000177477] [ENSMUST00000177545] [ENSMUST00000196511]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000031734
SMART Domains Protein: ENSMUSP00000031734
Gene: ENSMUSG00000093445

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
LRR 90 112 4.84e1 SMART
LRR_TYP 113 136 4.61e-5 SMART
LRR 158 180 2.63e0 SMART
LRR_TYP 181 204 1.1e-2 SMART
LRR 226 249 3.98e1 SMART
low complexity region 389 405 N/A INTRINSIC
low complexity region 440 453 N/A INTRINSIC
low complexity region 474 479 N/A INTRINSIC
low complexity region 510 530 N/A INTRINSIC
CH 533 642 9.24e-15 SMART
transmembrane domain 656 678 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000057314
SMART Domains Protein: ENSMUSP00000060844
Gene: ENSMUSG00000047182

DomainStartEndE-ValueType
PH 33 135 4.46e-11 SMART
IRS 159 272 1.18e-30 SMART
PTBI 159 272 7.23e-55 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166099
SMART Domains Protein: ENSMUSP00000127076
Gene: ENSMUSG00000079165

DomainStartEndE-ValueType
Pfam:SAP25 76 261 1.8e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175968
SMART Domains Protein: ENSMUSP00000134767
Gene: ENSMUSG00000093445

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
LRR 36 58 4.84e1 SMART
LRR_TYP 59 82 4.61e-5 SMART
LRR 104 126 2.63e0 SMART
LRR_TYP 127 150 1.1e-2 SMART
LRR 172 195 3.98e1 SMART
low complexity region 335 351 N/A INTRINSIC
low complexity region 386 399 N/A INTRINSIC
low complexity region 420 425 N/A INTRINSIC
low complexity region 456 476 N/A INTRINSIC
CH 479 588 9.24e-15 SMART
transmembrane domain 602 624 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176667
SMART Domains Protein: ENSMUSP00000135832
Gene: ENSMUSG00000093445

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
LRR 90 112 4.84e1 SMART
LRR_TYP 113 136 4.61e-5 SMART
LRR 158 180 2.63e0 SMART
LRR_TYP 181 204 1.1e-2 SMART
LRR 226 249 3.98e1 SMART
low complexity region 389 405 N/A INTRINSIC
low complexity region 440 453 N/A INTRINSIC
low complexity region 474 479 N/A INTRINSIC
low complexity region 510 530 N/A INTRINSIC
CH 533 648 4.73e-12 SMART
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000176871
Predicted Effect probably benign
Transcript: ENSMUST00000177466
Predicted Effect probably benign
Transcript: ENSMUST00000177477
SMART Domains Protein: ENSMUSP00000135724
Gene: ENSMUSG00000093445

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177545
SMART Domains Protein: ENSMUSP00000135286
Gene: ENSMUSG00000029720

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
LRR 90 112 4.84e1 SMART
LRR_TYP 113 136 4.61e-5 SMART
LRR 158 180 2.63e0 SMART
LRR_TYP 181 204 1.1e-2 SMART
LRR 226 249 3.98e1 SMART
low complexity region 389 405 N/A INTRINSIC
low complexity region 440 453 N/A INTRINSIC
low complexity region 474 479 N/A INTRINSIC
low complexity region 510 530 N/A INTRINSIC
CH 533 642 9.24e-15 SMART
transmembrane domain 656 678 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196511
SMART Domains Protein: ENSMUSP00000142730
Gene: ENSMUSG00000047182

DomainStartEndE-ValueType
PH 33 135 4.46e-11 SMART
IRS 159 272 1.18e-30 SMART
PTBI 159 272 7.23e-55 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains leucine-rich repeats (LRR) at its amino terminus and that is known to be involved in ligand binding. The carboxyl terminus may act as a membrane anchor. Identified structural elements suggest that the encoded protein resembles a receptor. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A G 10: 29,094,195 (GRCm39) N27S probably damaging Het
Akr1b1 G C 6: 34,288,867 (GRCm39) T114R probably damaging Het
Alx4 T C 2: 93,505,696 (GRCm39) M266T possibly damaging Het
Arhgap21 C T 2: 20,876,556 (GRCm39) D820N probably damaging Het
Clec4a1 A G 6: 122,907,773 (GRCm39) S154G probably damaging Het
Col11a2 T C 17: 34,266,253 (GRCm39) probably null Het
Dnaaf2 A T 12: 69,244,866 (GRCm39) V65E probably damaging Het
Dnah14 A G 1: 181,623,110 (GRCm39) E3996G possibly damaging Het
Dsg1b A G 18: 20,541,947 (GRCm39) Y818C probably benign Het
Dzip3 C T 16: 48,798,307 (GRCm39) G133S probably damaging Het
Efcab6 T C 15: 83,788,456 (GRCm39) Y946C probably benign Het
Eprs1 A G 1: 185,139,812 (GRCm39) E967G possibly damaging Het
F5 T C 1: 164,021,959 (GRCm39) V1478A probably benign Het
Fchsd2 C T 7: 100,931,679 (GRCm39) P745L probably damaging Het
Gart T C 16: 91,425,041 (GRCm39) I661V possibly damaging Het
Gm14295 T A 2: 176,502,970 (GRCm39) I820K unknown Het
Grb10 G T 11: 11,901,533 (GRCm39) L214M probably damaging Het
Gria2 A G 3: 80,616,764 (GRCm39) V396A probably benign Het
Il17rc C A 6: 113,449,771 (GRCm39) Q126K probably benign Het
Ipo8 A G 6: 148,698,176 (GRCm39) I615T possibly damaging Het
Irak4 T A 15: 94,456,244 (GRCm39) L277Q probably damaging Het
Islr T C 9: 58,065,340 (GRCm39) S56G probably damaging Het
Krt78 A T 15: 101,855,480 (GRCm39) M777K possibly damaging Het
Muc21 T C 17: 35,930,599 (GRCm39) probably benign Het
Nbeal1 A T 1: 60,316,336 (GRCm39) K1846N probably damaging Het
Nedd1 T A 10: 92,527,797 (GRCm39) M466L probably benign Het
Nup107 T C 10: 117,593,836 (GRCm39) K786E probably benign Het
Or51f23b T C 7: 102,402,950 (GRCm39) Y62C probably benign Het
Or5ak25 T A 2: 85,268,981 (GRCm39) I174F probably damaging Het
Or5m12 T C 2: 85,734,547 (GRCm39) I284V probably benign Het
Phc2 T C 4: 128,603,299 (GRCm39) L143P probably benign Het
Pkhd1l1 A G 15: 44,437,803 (GRCm39) N3533D possibly damaging Het
Plpp1 A T 13: 113,003,465 (GRCm39) T230S probably benign Het
Prokr2 C A 2: 132,215,961 (GRCm39) A167S probably damaging Het
Qser1 C T 2: 104,619,070 (GRCm39) A491T probably benign Het
Rc3h2 T A 2: 37,267,001 (GRCm39) Y1040F possibly damaging Het
Rgl2 C T 17: 34,151,501 (GRCm39) L182F possibly damaging Het
Rnf130 T C 11: 49,962,097 (GRCm39) V181A probably benign Het
Scn7a T G 2: 66,531,204 (GRCm39) I558L possibly damaging Het
Shtn1 T C 19: 58,992,328 (GRCm39) I417V possibly damaging Het
Slco1a5 T G 6: 142,208,408 (GRCm39) N128H probably damaging Het
Smg5 C T 3: 88,258,838 (GRCm39) A603V probably benign Het
Svs3b T A 2: 164,098,140 (GRCm39) E60D possibly damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Timm44 A T 8: 4,316,844 (GRCm39) M263K probably benign Het
Tmem150b A G 7: 4,723,691 (GRCm39) L162P probably damaging Het
Tmprss11f A G 5: 86,687,566 (GRCm39) V114A probably damaging Het
Trak1 C T 9: 121,280,793 (GRCm39) T394I probably benign Het
Tram2 A C 1: 21,075,801 (GRCm39) Y206D probably damaging Het
Trhde C T 10: 114,403,133 (GRCm39) V497M probably damaging Het
Trpc2 A G 7: 101,737,482 (GRCm39) M425V possibly damaging Het
Tuba1b C T 15: 98,829,591 (GRCm39) G410S probably benign Het
Vmn2r1 A G 3: 63,997,199 (GRCm39) D285G possibly damaging Het
Zfp536 A T 7: 37,268,080 (GRCm39) S445R probably benign Het
Zfp606 A T 7: 12,227,234 (GRCm39) T452S probably benign Het
Other mutations in Lrch4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Lrch4 APN 5 137,636,009 (GRCm39) missense possibly damaging 0.49
IGL01862:Lrch4 APN 5 137,635,271 (GRCm39) missense probably damaging 1.00
IGL03289:Lrch4 APN 5 137,631,839 (GRCm39) missense probably damaging 1.00
R0144:Lrch4 UTSW 5 137,636,805 (GRCm39) critical splice donor site probably null
R0724:Lrch4 UTSW 5 137,635,570 (GRCm39) missense probably damaging 1.00
R1330:Lrch4 UTSW 5 137,636,051 (GRCm39) missense probably damaging 0.99
R1557:Lrch4 UTSW 5 137,635,818 (GRCm39) missense probably benign 0.00
R1694:Lrch4 UTSW 5 137,636,723 (GRCm39) missense probably benign 0.00
R2358:Lrch4 UTSW 5 137,636,810 (GRCm39) unclassified probably benign
R3755:Lrch4 UTSW 5 137,635,992 (GRCm39) missense probably damaging 1.00
R3756:Lrch4 UTSW 5 137,635,992 (GRCm39) missense probably damaging 1.00
R4608:Lrch4 UTSW 5 137,637,408 (GRCm39) nonsense probably null
R5056:Lrch4 UTSW 5 137,635,113 (GRCm39) missense probably damaging 1.00
R5114:Lrch4 UTSW 5 137,636,179 (GRCm39) missense probably benign
R5181:Lrch4 UTSW 5 137,627,665 (GRCm39) missense probably damaging 1.00
R5325:Lrch4 UTSW 5 137,636,168 (GRCm39) missense probably damaging 1.00
R5430:Lrch4 UTSW 5 137,636,795 (GRCm39) missense possibly damaging 0.46
R5712:Lrch4 UTSW 5 137,636,188 (GRCm39) missense possibly damaging 0.57
R5846:Lrch4 UTSW 5 137,631,919 (GRCm39) missense probably damaging 1.00
R5909:Lrch4 UTSW 5 137,632,127 (GRCm39) missense possibly damaging 0.87
R7319:Lrch4 UTSW 5 137,637,977 (GRCm39) missense
R7525:Lrch4 UTSW 5 137,637,727 (GRCm39) missense probably damaging 1.00
R7761:Lrch4 UTSW 5 137,638,025 (GRCm39) missense
R7848:Lrch4 UTSW 5 137,632,116 (GRCm39) missense probably damaging 1.00
R8226:Lrch4 UTSW 5 137,637,997 (GRCm39) missense
R8713:Lrch4 UTSW 5 137,638,125 (GRCm39) nonsense probably null
R9361:Lrch4 UTSW 5 137,635,076 (GRCm39) missense probably damaging 1.00
R9372:Lrch4 UTSW 5 137,631,953 (GRCm39) missense possibly damaging 0.70
R9440:Lrch4 UTSW 5 137,636,051 (GRCm39) missense probably damaging 0.99
R9752:Lrch4 UTSW 5 137,636,218 (GRCm39) missense probably benign
R9796:Lrch4 UTSW 5 137,635,269 (GRCm39) missense probably damaging 0.99
RF009:Lrch4 UTSW 5 137,635,805 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- TCCTCTGTCTCCAGCCAAAG -3'
(R):5'- GCAGCATGAAGACCACGTAG -3'

Sequencing Primer
(F):5'- GCTCAGTGCTCTCAAGTCTCGG -3'
(R):5'- AGGATCACAGCCTCCAGG -3'
Posted On 2020-07-13