Incidental Mutation 'R7706:Lrrc38'
ID 594270
Institutional Source Beutler Lab
Gene Symbol Lrrc38
Ensembl Gene ENSMUSG00000028584
Gene Name leucine rich repeat containing 38
Synonyms A230053A07Rik
MMRRC Submission 045767-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R7706 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 143076327-143097602 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 143076845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 36 (C36Y)
Ref Sequence ENSEMBL: ENSMUSP00000053597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052458]
AlphaFold A2VDH3
Predicted Effect probably damaging
Transcript: ENSMUST00000052458
AA Change: C36Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053597
Gene: ENSMUSG00000028584
AA Change: C36Y

DomainStartEndE-ValueType
low complexity region 12 27 N/A INTRINSIC
LRRNT 31 64 2.82e-4 SMART
LRR 84 106 1.37e1 SMART
LRR 108 130 5.26e0 SMART
LRR 132 154 2.27e1 SMART
LRR 155 178 8.09e-1 SMART
LRRCT 190 244 8.63e-6 SMART
transmembrane domain 252 274 N/A INTRINSIC
low complexity region 288 298 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (52/53)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C23Rik G A 17: 46,044,583 (GRCm39) T46I unknown Het
Arhgef1 G A 7: 24,616,306 (GRCm39) D317N probably damaging Het
Atxn7l2 T C 3: 108,114,719 (GRCm39) D109G probably damaging Het
B4galnt3 C A 6: 120,195,913 (GRCm39) V305L probably benign Het
C9 T A 15: 6,488,402 (GRCm39) N85K probably benign Het
Cacna1g T C 11: 94,305,867 (GRCm39) I1941V probably benign Het
Capn15 A G 17: 26,183,125 (GRCm39) V518A probably benign Het
Chst10 A T 1: 38,905,106 (GRCm39) Y200N probably damaging Het
Ciao3 T C 17: 26,001,226 (GRCm39) *493Q probably null Het
Cir1 A G 2: 73,142,823 (GRCm39) S4P probably damaging Het
Cish G A 9: 107,177,840 (GRCm39) R172Q probably benign Het
Cnot10 A T 9: 114,422,506 (GRCm39) N693K probably damaging Het
Ddx6 A G 9: 44,538,939 (GRCm39) D249G probably damaging Het
Dennd6b T C 15: 89,069,447 (GRCm39) D528G probably benign Het
Dmtf1 T A 5: 9,174,489 (GRCm39) T484S possibly damaging Het
Dnaaf5 T C 5: 139,138,596 (GRCm39) V259A probably damaging Het
Dzip1l A T 9: 99,519,589 (GRCm39) S39C probably damaging Het
Efcab8 T A 2: 153,623,695 (GRCm39) M60K Het
Eml2 T A 7: 18,920,035 (GRCm39) V113D possibly damaging Het
Fnip1 A T 11: 54,406,325 (GRCm39) I1141F probably benign Het
Gm7298 T A 6: 121,712,570 (GRCm39) S127R probably damaging Het
Hcn2 G A 10: 79,570,017 (GRCm39) R622Q possibly damaging Het
Ift172 C T 5: 31,423,723 (GRCm39) W746* probably null Het
Irs1 A G 1: 82,265,412 (GRCm39) Y935H probably damaging Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,321,113 (GRCm39) probably benign Het
Klhl20 T C 1: 160,936,827 (GRCm39) I183V probably benign Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lalba T C 15: 98,379,474 (GRCm39) D103G probably damaging Het
Lpin3 T C 2: 160,747,210 (GRCm39) L822P probably damaging Het
Ly6e T C 15: 74,830,183 (GRCm39) S46P possibly damaging Het
Nav2 T C 7: 49,244,067 (GRCm39) I2098T probably benign Het
Nipbl T C 15: 8,381,010 (GRCm39) E594G probably benign Het
Or52k2 T A 7: 102,253,853 (GRCm39) H97Q probably benign Het
Parn T C 16: 13,425,117 (GRCm39) D432G probably damaging Het
Pcdh20 A G 14: 88,704,793 (GRCm39) S836P probably damaging Het
Pcmtd2 C T 2: 181,496,868 (GRCm39) R282C probably damaging Het
Ppp2r3c A G 12: 55,328,490 (GRCm39) I425T probably benign Het
Samm50 T A 15: 84,085,081 (GRCm39) probably null Het
Sars1 C T 3: 108,338,780 (GRCm39) probably null Het
Senp8 A G 9: 59,645,121 (GRCm39) Y12H possibly damaging Het
Slc13a4 T C 6: 35,247,290 (GRCm39) I577V possibly damaging Het
Srr T G 11: 74,803,961 (GRCm39) probably null Het
Steap2 T A 5: 5,732,967 (GRCm39) N19I possibly damaging Het
Sucla2 A G 14: 73,806,433 (GRCm39) Y168C probably damaging Het
Tha1 T C 11: 117,760,281 (GRCm39) Q275R probably damaging Het
Trim56 T C 5: 137,143,510 (GRCm39) N2S probably benign Het
Tubgcp6 T A 15: 88,988,426 (GRCm39) H849L probably benign Het
Uevld A G 7: 46,597,775 (GRCm39) I72T possibly damaging Het
Ybx1 A G 4: 119,136,164 (GRCm39) *323Q probably null Het
Zfp354b C T 11: 50,819,390 (GRCm39) probably null Het
Zfp36l2 A T 17: 84,494,346 (GRCm39) L97Q probably benign Het
Zfp729a T A 13: 67,771,612 (GRCm39) R78S possibly damaging Het
Other mutations in Lrrc38
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0281:Lrrc38 UTSW 4 143,076,979 (GRCm39) missense probably damaging 0.99
R0545:Lrrc38 UTSW 4 143,077,328 (GRCm39) missense probably benign 0.41
R1078:Lrrc38 UTSW 4 143,077,088 (GRCm39) missense probably benign 0.06
R1467:Lrrc38 UTSW 4 143,096,450 (GRCm39) missense probably damaging 1.00
R1467:Lrrc38 UTSW 4 143,096,450 (GRCm39) missense probably damaging 1.00
R1967:Lrrc38 UTSW 4 143,096,553 (GRCm39) missense unknown
R2221:Lrrc38 UTSW 4 143,096,419 (GRCm39) nonsense probably null
R2223:Lrrc38 UTSW 4 143,096,419 (GRCm39) nonsense probably null
R4061:Lrrc38 UTSW 4 143,077,076 (GRCm39) missense probably damaging 1.00
R4930:Lrrc38 UTSW 4 143,096,438 (GRCm39) missense probably damaging 0.98
R5585:Lrrc38 UTSW 4 143,076,961 (GRCm39) missense probably damaging 0.96
R6787:Lrrc38 UTSW 4 143,096,364 (GRCm39) missense probably benign 0.18
R7046:Lrrc38 UTSW 4 143,076,739 (GRCm39) start codon destroyed probably null
R8189:Lrrc38 UTSW 4 143,077,303 (GRCm39) missense probably damaging 1.00
R8190:Lrrc38 UTSW 4 143,077,303 (GRCm39) missense probably damaging 1.00
R8192:Lrrc38 UTSW 4 143,077,303 (GRCm39) missense probably damaging 1.00
R8219:Lrrc38 UTSW 4 143,077,303 (GRCm39) missense probably damaging 1.00
R8221:Lrrc38 UTSW 4 143,077,303 (GRCm39) missense probably damaging 1.00
R8223:Lrrc38 UTSW 4 143,077,303 (GRCm39) missense probably damaging 1.00
R8226:Lrrc38 UTSW 4 143,077,303 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGTGCGGGTAAATTCTGCG -3'
(R):5'- TTGTTCCTGAAATCCAGATACACC -3'

Sequencing Primer
(F):5'- GGGTAAATTCTGCGCCCAG -3'
(R):5'- GATACACCAGATCTCCATGGAAGATG -3'
Posted On 2019-11-12