Incidental Mutation 'R6548:Lrrc75a'
ID 521383
Institutional Source Beutler Lab
Gene Symbol Lrrc75a
Ensembl Gene ENSMUSG00000046417
Gene Name leucine rich repeat containing 75A
Synonyms Fam211a, BC046404
MMRRC Submission 044673-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R6548 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 62495710-62539349 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 62496921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 214 (T214S)
Ref Sequence ENSEMBL: ENSMUSP00000062489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057194]
AlphaFold Q7TSF4
Predicted Effect probably damaging
Transcript: ENSMUST00000057194
AA Change: T214S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000062489
Gene: ENSMUSG00000046417
AA Change: T214S

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
SCOP:d1yrga_ 152 290 7e-6 SMART
low complexity region 298 309 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082503
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083800
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104269
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123423
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128647
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128705
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143262
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131787
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
Validation Efficiency 93% (38/41)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik T C 10: 43,050,769 (GRCm39) L21P probably damaging Het
Ank3 C T 10: 69,728,240 (GRCm39) A642V probably damaging Het
Bap1 A G 14: 30,978,182 (GRCm39) N349S probably benign Het
Brca1 G T 11: 101,415,591 (GRCm39) Q32K probably damaging Het
Ccdc39 A T 3: 33,892,108 (GRCm39) N121K probably benign Het
Champ1 A T 8: 13,930,002 (GRCm39) N720I probably damaging Het
Chd3 T A 11: 69,252,886 (GRCm39) R216* probably null Het
D630003M21Rik A G 2: 158,047,619 (GRCm39) probably null Het
Exoc2 A T 13: 31,010,047 (GRCm39) V804E possibly damaging Het
Fcgbp A G 7: 27,791,343 (GRCm39) N868S probably benign Het
Gm10376 T C 14: 42,873,025 (GRCm39) M1V probably null Het
Gpc2 G A 5: 138,275,533 (GRCm39) probably null Het
Gpr37 G A 6: 25,688,812 (GRCm39) T95I probably benign Het
Ints3 G A 3: 90,299,431 (GRCm39) probably benign Het
Krt28 T C 11: 99,257,839 (GRCm39) E334G probably damaging Het
Lyar A G 5: 38,385,202 (GRCm39) I81V probably benign Het
Mon2 A T 10: 122,871,998 (GRCm39) L342Q probably damaging Het
Mug2 C T 6: 122,024,401 (GRCm39) A491V probably damaging Het
Myh2 A G 11: 67,077,438 (GRCm39) T858A probably benign Het
Net1 C T 13: 3,936,074 (GRCm39) probably null Het
Or52s1 T A 7: 102,861,111 (GRCm39) Y4N probably benign Het
Or5p76 T C 7: 108,122,423 (GRCm39) T245A probably benign Het
Platr25 A T 13: 62,821,623 (GRCm39) I110N possibly damaging Het
Plk5 T A 10: 80,198,879 (GRCm39) L412H probably damaging Het
Rasal1 A T 5: 120,812,790 (GRCm39) T605S probably benign Het
Ryr2 T A 13: 11,683,707 (GRCm39) D3119V probably damaging Het
Serpina1a G T 12: 103,820,017 (GRCm39) H387N probably benign Het
Serpina1d G T 12: 103,733,811 (GRCm39) N164K probably damaging Het
Smurf1 A G 5: 144,836,307 (GRCm39) Y69H probably damaging Het
Sod2 A G 17: 13,227,250 (GRCm39) K68R probably benign Het
Ssbp2 A G 13: 91,687,470 (GRCm39) N51S possibly damaging Het
Tcl1b1 A G 12: 105,130,663 (GRCm39) R49G probably benign Het
Tgfb1 A G 7: 25,396,350 (GRCm39) I214M probably benign Het
Tln1 A G 4: 43,547,525 (GRCm39) I812T probably damaging Het
Topaz1 T A 9: 122,577,419 (GRCm39) C110S possibly damaging Het
Ubap2l A G 3: 89,930,867 (GRCm39) F393L probably damaging Het
Vmn1r62 G A 7: 5,678,769 (GRCm39) G150D probably damaging Het
Wdr24 C A 17: 26,046,899 (GRCm39) Q651K probably damaging Het
Wdr7 A G 18: 63,911,322 (GRCm39) T905A possibly damaging Het
Zfyve26 A G 12: 79,285,109 (GRCm39) F2382S probably damaging Het
Other mutations in Lrrc75a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01346:Lrrc75a APN 11 62,496,813 (GRCm39) missense probably damaging 0.98
R1171:Lrrc75a UTSW 11 62,500,069 (GRCm39) missense probably damaging 1.00
R6576:Lrrc75a UTSW 11 62,496,695 (GRCm39) missense probably damaging 1.00
R7147:Lrrc75a UTSW 11 62,496,795 (GRCm39) missense probably damaging 1.00
R7411:Lrrc75a UTSW 11 62,496,734 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCACATTGTTGCCCAGGTC -3'
(R):5'- ATGGTGATAACCACTACTGCCTC -3'

Sequencing Primer
(F):5'- CCAGGTCAATCCATGTGACATTGG -3'
(R):5'- AGTAAAGACCTGCCTGGCTTG -3'
Posted On 2018-06-06