Incidental Mutation 'R8957:Lrrc74b'
ID 682124
Institutional Source Beutler Lab
Gene Symbol Lrrc74b
Ensembl Gene ENSMUSG00000022759
Gene Name leucine rich repeat containing 74B
Synonyms 4930451C15Rik
MMRRC Submission 068793-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R8957 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 17362329-17379111 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17378976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 34 (T34A)
Ref Sequence ENSEMBL: ENSMUSP00000097699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023441] [ENSMUST00000023442] [ENSMUST00000100123] [ENSMUST00000171002] [ENSMUST00000231806] [ENSMUST00000232637]
AlphaFold Q14BP6
Predicted Effect probably benign
Transcript: ENSMUST00000023441
SMART Domains Protein: ENSMUSP00000023441
Gene: ENSMUSG00000022758

DomainStartEndE-ValueType
low complexity region 12 18 N/A INTRINSIC
Pfam:P2X_receptor 25 385 7.9e-139 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000023442
AA Change: T34A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000023442
Gene: ENSMUSG00000022759
AA Change: T34A

DomainStartEndE-ValueType
LRR 71 103 3.9e0 SMART
LRR 104 131 1.04e-3 SMART
LRR 132 159 1.14e1 SMART
LRR 160 187 7.78e-3 SMART
LRR 188 215 3.9e0 SMART
LRR 216 243 7.89e-1 SMART
LRR 244 271 6.78e-3 SMART
LRR 272 299 5.51e-1 SMART
low complexity region 342 355 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100123
AA Change: T34A

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000097699
Gene: ENSMUSG00000022759
AA Change: T34A

DomainStartEndE-ValueType
LRR 71 103 3.9e0 SMART
LRR 104 131 1.04e-3 SMART
LRR 132 159 1.14e1 SMART
LRR 160 187 7.78e-3 SMART
LRR 188 215 3.9e0 SMART
LRR 216 243 7.89e-1 SMART
LRR 244 271 6.78e-3 SMART
LRR 272 299 5.51e-1 SMART
LRR 300 327 4.16e0 SMART
low complexity region 374 387 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171002
SMART Domains Protein: ENSMUSP00000132727
Gene: ENSMUSG00000022758

DomainStartEndE-ValueType
low complexity region 12 18 N/A INTRINSIC
Pfam:P2X_receptor 25 197 1e-65 PFAM
Pfam:P2X_receptor 185 362 7e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000231806
Predicted Effect probably benign
Transcript: ENSMUST00000232637
AA Change: T34A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (66/66)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500011B03Rik A G 5: 114,951,891 (GRCm39) V28A probably benign Het
Abca12 T A 1: 71,360,784 (GRCm39) D503V possibly damaging Het
Aco2 A T 15: 81,773,701 (GRCm39) probably benign Het
Aff1 A G 5: 103,981,634 (GRCm39) Q591R possibly damaging Het
Ankle2 G A 5: 110,379,121 (GRCm39) A7T possibly damaging Het
Ankrd12 T C 17: 66,291,491 (GRCm39) N1314S probably benign Het
Apeh A T 9: 107,969,572 (GRCm39) M216K probably benign Het
Armh1 T C 4: 117,087,104 (GRCm39) Y187C probably damaging Het
Ascc3 C A 10: 50,576,208 (GRCm39) A821E probably damaging Het
Atf7ip A G 6: 136,543,701 (GRCm39) D650G probably null Het
Cav1 T A 6: 17,339,235 (GRCm39) F107I probably benign Het
Ccdc146 A G 5: 21,514,585 (GRCm39) probably benign Het
Ccdc57 A G 11: 120,776,861 (GRCm39) I513T probably benign Het
Ccrl2 T C 9: 110,884,557 (GRCm39) R314G probably benign Het
Cd1d1 T C 3: 86,906,140 (GRCm39) D45G probably damaging Het
Cfap74 G A 4: 155,521,187 (GRCm39) E620K Het
Col4a1 T A 8: 11,295,906 (GRCm39) probably benign Het
Cux2 C T 5: 121,999,011 (GRCm39) G1310R probably benign Het
Cyld G T 8: 89,432,410 (GRCm39) R136L probably damaging Het
Cyp4v3 A T 8: 45,760,018 (GRCm39) N511K probably benign Het
Dchs2 G A 3: 83,189,573 (GRCm39) V1646M Het
Des A T 1: 75,340,295 (GRCm39) I401F probably damaging Het
Dis3 T C 14: 99,337,027 (GRCm39) D28G probably damaging Het
Dnai4 T C 4: 102,953,950 (GRCm39) D83G probably damaging Het
Ehd1 A G 19: 6,344,439 (GRCm39) Y233C probably damaging Het
Fcrlb G A 1: 170,735,536 (GRCm39) A246V probably benign Het
Firrm C T 1: 163,792,335 (GRCm39) R554H probably damaging Het
Fnta T C 8: 26,489,541 (GRCm39) R357G probably benign Het
Fpgs T C 2: 32,575,354 (GRCm39) D420G probably damaging Het
Hdac4 T C 1: 91,873,757 (GRCm39) probably null Het
Hdhd5 C T 6: 120,495,404 (GRCm39) probably null Het
Iqgap2 G A 13: 95,772,154 (GRCm39) R1342C probably damaging Het
Isyna1 T G 8: 71,049,372 (GRCm39) L428R probably damaging Het
Jmjd4 C T 11: 59,340,884 (GRCm39) probably benign Het
Klra1 A G 6: 130,357,609 (GRCm39) V6A possibly damaging Het
Klrb1b T A 6: 128,795,522 (GRCm39) K124N probably benign Het
Krtap19-3 T C 16: 88,674,833 (GRCm39) probably benign Het
Map9 A G 3: 82,278,687 (GRCm39) Y229C probably benign Het
Mmp28 T C 11: 83,334,636 (GRCm39) I373V possibly damaging Het
Mpdz A T 4: 81,251,216 (GRCm39) Y1086* probably null Het
Myct1 C T 10: 5,554,208 (GRCm39) T25I probably damaging Het
Myh4 A G 11: 67,141,780 (GRCm39) K880E possibly damaging Het
Nav2 T G 7: 49,220,964 (GRCm39) V1656G probably damaging Het
Or12d13 A G 17: 37,647,382 (GRCm39) V247A probably damaging Het
Or1a1 T A 11: 74,086,772 (GRCm39) S148T probably damaging Het
Or5b101 T A 19: 13,004,881 (GRCm39) I271F probably benign Het
Pate2 T C 9: 35,596,911 (GRCm39) W100R probably benign Het
Pcdhb11 A C 18: 37,554,692 (GRCm39) K7N probably benign Het
Pcdhb11 A G 18: 37,555,872 (GRCm39) T401A probably benign Het
Pgam1 T A 19: 41,905,215 (GRCm39) I183N possibly damaging Het
Pou5f1 T G 17: 35,821,366 (GRCm39) L326R possibly damaging Het
Rbm34 A C 8: 127,692,208 (GRCm39) V178G probably benign Het
Rc3h2 A G 2: 37,289,660 (GRCm39) V384A possibly damaging Het
Sec62 T A 3: 30,864,671 (GRCm39) F178L unknown Het
Slco1a6 T C 6: 142,091,493 (GRCm39) N69S probably damaging Het
Smok2b T A 17: 13,453,873 (GRCm39) L11Q probably damaging Het
Snai2 T C 16: 14,526,113 (GRCm39) S255P probably damaging Het
Spata31h1 A G 10: 82,124,908 (GRCm39) Y2701H probably benign Het
Tesk2 T A 4: 116,659,910 (GRCm39) F343I probably benign Het
Tmem106c A T 15: 97,867,481 (GRCm39) I222F probably benign Het
Tmub1 G T 5: 24,651,775 (GRCm39) T63K probably benign Het
Tnip3 A G 6: 65,582,843 (GRCm39) T217A probably benign Het
Vmn2r10 T G 5: 109,149,780 (GRCm39) K421N possibly damaging Het
Zfp975 A T 7: 42,311,157 (GRCm39) H485Q probably damaging Het
Other mutations in Lrrc74b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01810:Lrrc74b APN 16 17,363,422 (GRCm39) missense probably benign 0.00
IGL02402:Lrrc74b APN 16 17,376,028 (GRCm39) splice site probably benign
P0043:Lrrc74b UTSW 16 17,376,023 (GRCm39) splice site probably benign
R0131:Lrrc74b UTSW 16 17,371,016 (GRCm39) missense probably damaging 1.00
R0131:Lrrc74b UTSW 16 17,371,016 (GRCm39) missense probably damaging 1.00
R0132:Lrrc74b UTSW 16 17,371,016 (GRCm39) missense probably damaging 1.00
R0829:Lrrc74b UTSW 16 17,376,254 (GRCm39) splice site probably benign
R1463:Lrrc74b UTSW 16 17,377,737 (GRCm39) missense probably benign 0.00
R1681:Lrrc74b UTSW 16 17,377,617 (GRCm39) missense probably damaging 1.00
R1938:Lrrc74b UTSW 16 17,371,058 (GRCm39) missense probably benign 0.41
R4790:Lrrc74b UTSW 16 17,367,717 (GRCm39) missense probably damaging 1.00
R5428:Lrrc74b UTSW 16 17,376,125 (GRCm39) missense probably damaging 0.99
R6198:Lrrc74b UTSW 16 17,366,650 (GRCm39) missense probably damaging 0.96
R7910:Lrrc74b UTSW 16 17,376,213 (GRCm39) nonsense probably null
R8233:Lrrc74b UTSW 16 17,376,089 (GRCm39) missense probably benign 0.00
R9030:Lrrc74b UTSW 16 17,367,640 (GRCm39) critical splice donor site probably null
X0063:Lrrc74b UTSW 16 17,371,072 (GRCm39) missense probably benign 0.05
Z1177:Lrrc74b UTSW 16 17,376,036 (GRCm39) missense probably damaging 1.00
Z1177:Lrrc74b UTSW 16 17,376,032 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GACTTGAGGGGTATCAGCTG -3'
(R):5'- TGTCCGTAGATCAGATTCGATTGG -3'

Sequencing Primer
(F):5'- GCTGATACTGGGAAATGTGCCC -3'
(R):5'- CCGTAGATCAGATTCGATTGGTCAAG -3'
Posted On 2021-08-31