Incidental Mutation 'R9196:Lrrc23'
ID 697942
Institutional Source Beutler Lab
Gene Symbol Lrrc23
Ensembl Gene ENSMUSG00000030125
Gene Name leucine rich repeat containing 23
Synonyms Lrpb7, 4921537K05Rik
MMRRC Submission 068955-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9196 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 124746826-124756690 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124755189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 116 (K116R)
Ref Sequence ENSEMBL: ENSMUSP00000108094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032218] [ENSMUST00000112475] [ENSMUST00000128697] [ENSMUST00000147669]
AlphaFold O35125
Predicted Effect possibly damaging
Transcript: ENSMUST00000032218
AA Change: K116R

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000032218
Gene: ENSMUSG00000030125
AA Change: K116R

DomainStartEndE-ValueType
coiled coil region 12 40 N/A INTRINSIC
Pfam:LRR_1 89 109 1.2e-2 PFAM
LRR 196 217 1.33e2 SMART
LRR 218 239 4.97e0 SMART
LRR 241 263 3.27e1 SMART
low complexity region 305 314 N/A INTRINSIC
low complexity region 323 332 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000112475
AA Change: K116R

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108094
Gene: ENSMUSG00000030125
AA Change: K116R

DomainStartEndE-ValueType
coiled coil region 12 40 N/A INTRINSIC
internal_repeat_1 90 182 7.1e-5 PROSPERO
LRR 196 217 1.33e2 SMART
LRR 218 239 4.97e0 SMART
LRR 241 263 3.27e1 SMART
low complexity region 305 314 N/A INTRINSIC
low complexity region 323 332 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128697
SMART Domains Protein: ENSMUSP00000122362
Gene: ENSMUSG00000030125

DomainStartEndE-ValueType
coiled coil region 12 40 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147669
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 92% (35/38)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 T C 5: 24,605,644 (GRCm39) L176P probably benign Het
Abtb2 A T 2: 103,513,647 (GRCm39) H352L possibly damaging Het
Adgrf5 T C 17: 43,755,995 (GRCm39) V651A possibly damaging Het
Cc2d1b T A 4: 108,485,134 (GRCm39) L519Q probably damaging Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cenpn G A 8: 117,658,344 (GRCm39) D97N probably damaging Het
Cfap54 A G 10: 92,873,753 (GRCm39) C576R probably benign Het
Col8a1 A T 16: 57,447,730 (GRCm39) D593E unknown Het
Dsel C T 1: 111,787,863 (GRCm39) E891K probably benign Het
Duox1 T C 2: 122,150,689 (GRCm39) Y255H probably benign Het
Fzd6 C A 15: 38,895,102 (GRCm39) L423M probably damaging Het
Fzd6 T G 15: 38,895,103 (GRCm39) L423R probably damaging Het
Galntl6 G T 8: 58,415,461 (GRCm39) L231I probably damaging Het
Grm5 T C 7: 87,723,518 (GRCm39) Y603H probably damaging Het
Hepacam A T 9: 37,279,052 (GRCm39) Q27L probably benign Het
Hibadh C T 6: 52,525,865 (GRCm39) V262I probably damaging Het
Hs3st1 T A 5: 39,771,962 (GRCm39) D227V probably damaging Het
Inpp1 A G 1: 52,833,778 (GRCm39) L106P probably damaging Het
Itprid1 A T 6: 55,952,613 (GRCm39) Q852L probably damaging Het
Jmy T A 13: 93,601,209 (GRCm39) D399V probably damaging Het
Krt23 A T 11: 99,371,855 (GRCm39) I332N probably benign Het
Myo10 T A 15: 25,805,716 (GRCm39) I1699N probably damaging Het
Ndst4 C T 3: 125,518,385 (GRCm39) S354L probably benign Het
Neto1 A T 18: 86,413,965 (GRCm39) probably benign Het
Nlrp9a T A 7: 26,258,158 (GRCm39) L592Q probably damaging Het
Nol10 A G 12: 17,455,316 (GRCm39) Q439R probably benign Het
Pcbp3 A G 10: 76,621,003 (GRCm39) S216P probably damaging Het
Pcdhb20 T A 18: 37,638,024 (GRCm39) H183Q probably benign Het
Reln A C 5: 22,357,471 (GRCm39) S198R probably damaging Het
Rtn4 T C 11: 29,658,471 (GRCm39) V875A probably benign Het
Skic2 T C 17: 35,068,877 (GRCm39) S41G probably benign Het
Sorbs2 A G 8: 46,258,864 (GRCm39) R1134G probably benign Het
Trpc4 A G 3: 54,129,872 (GRCm39) S213G probably damaging Het
Unc79 A G 12: 103,078,613 (GRCm39) I1593V probably benign Het
Uspl1 T C 5: 149,151,349 (GRCm39) S850P probably benign Het
Xrra1 T C 7: 99,563,699 (GRCm39) probably null Het
Ythdc2 T A 18: 44,988,464 (GRCm39) F717L probably damaging Het
Zfp606 T A 7: 12,227,935 (GRCm39) C685* probably null Het
Zfp764l1 T C 7: 126,990,761 (GRCm39) T409A probably benign Het
Other mutations in Lrrc23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Lrrc23 APN 6 124,755,889 (GRCm39) missense probably damaging 1.00
IGL01123:Lrrc23 APN 6 124,755,782 (GRCm39) missense probably benign 0.04
IGL02429:Lrrc23 APN 6 124,755,130 (GRCm39) missense probably damaging 0.99
IGL02892:Lrrc23 APN 6 124,751,399 (GRCm39) missense probably benign 0.03
R0440:Lrrc23 UTSW 6 124,747,667 (GRCm39) missense probably benign 0.00
R0637:Lrrc23 UTSW 6 124,755,321 (GRCm39) unclassified probably benign
R1055:Lrrc23 UTSW 6 124,755,114 (GRCm39) missense probably damaging 1.00
R1125:Lrrc23 UTSW 6 124,753,145 (GRCm39) missense probably benign 0.06
R1531:Lrrc23 UTSW 6 124,753,077 (GRCm39) missense possibly damaging 0.91
R4156:Lrrc23 UTSW 6 124,747,804 (GRCm39) nonsense probably null
R4838:Lrrc23 UTSW 6 124,755,152 (GRCm39) missense probably benign 0.16
R5296:Lrrc23 UTSW 6 124,751,445 (GRCm39) missense probably damaging 0.98
R7211:Lrrc23 UTSW 6 124,755,152 (GRCm39) missense probably benign 0.16
R7426:Lrrc23 UTSW 6 124,756,088 (GRCm39) missense unknown
R7488:Lrrc23 UTSW 6 124,756,075 (GRCm39) missense unknown
R7583:Lrrc23 UTSW 6 124,756,541 (GRCm39) start gained probably benign
R7829:Lrrc23 UTSW 6 124,747,711 (GRCm39) missense probably benign 0.00
R8289:Lrrc23 UTSW 6 124,755,267 (GRCm39) missense probably damaging 1.00
R8726:Lrrc23 UTSW 6 124,753,043 (GRCm39) missense probably benign 0.03
R9384:Lrrc23 UTSW 6 124,755,189 (GRCm39) missense possibly damaging 0.77
Predicted Primers PCR Primer
(F):5'- CTCACTAGGAAGGGAAGGTCTG -3'
(R):5'- AAGGCTTCTCTGCATTGCTC -3'

Sequencing Primer
(F):5'- AGGTCTGTGTATCTCTTCCTAAGGAC -3'
(R):5'- TCCATCTTCGCTATGTGG -3'
Posted On 2022-02-07