Incidental Mutation 'R5428:Lrrc74b'
ID427039
Institutional Source Beutler Lab
Gene Symbol Lrrc74b
Ensembl Gene ENSMUSG00000022759
Gene Nameleucine rich repeat containing 74B
Synonyms4930451C15Rik
MMRRC Submission 042994-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.204) question?
Stock #R5428 (G1)
Quality Score225
Status Validated
Chromosome16
Chromosomal Location17544465-17561247 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 17558261 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 175 (E175G)
Ref Sequence ENSEMBL: ENSMUSP00000097699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023441] [ENSMUST00000023442] [ENSMUST00000065125] [ENSMUST00000100123] [ENSMUST00000171002] [ENSMUST00000231806] [ENSMUST00000232637]
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 damaging
Transcript: ENSMUST00000023442
AA Change: E175G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023442
Gene: ENSMUSG00000022759
AA Change: E175G

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 damaging
Transcript: ENSMUST00000065125
AA Change: E175G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000070127
Gene: ENSMUSG00000022759
AA Change: E175G

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
Predicted Effect probably damaging
Transcript: ENSMUST00000100123
AA Change: E175G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097699
Gene: ENSMUSG00000022759
AA Change: E175G

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 noncoding transcript
Transcript: ENSMUST00000138839
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 noncoding transcript
Transcript: ENSMUST00000232230
Predicted Effect probably damaging
Transcript: ENSMUST00000232637
AA Change: E175G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Meta Mutation Damage Score 0.1727 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik G C 18: 6,635,918 V324L probably benign Het
Abl2 T C 1: 156,642,111 C982R probably damaging Het
Adgrl4 G A 3: 151,542,686 C665Y probably damaging Het
Adra1d A G 2: 131,561,403 S256P probably damaging Het
Aipl1 T A 11: 72,030,487 Y194F probably benign Het
Arfgef1 C A 1: 10,160,835 D1150Y probably damaging Het
Arl14epl A T 18: 46,926,320 M1L possibly damaging Het
Colgalt1 G T 8: 71,622,776 R442L probably damaging Het
Ctnnd1 C T 2: 84,616,789 V371M probably damaging Het
Dach1 A G 14: 98,169,269 V14A unknown Het
Defa30 A G 8: 21,135,403 D61G probably benign Het
Dnaja2 A T 8: 85,540,175 C308S probably benign Het
Emc4 A G 2: 112,367,355 probably benign Het
Foxp1 A G 6: 99,016,631 V104A probably damaging Het
Fry T G 5: 150,405,359 L1319R possibly damaging Het
Gad1-ps G A 10: 99,445,147 noncoding transcript Het
Gja10 T A 4: 32,601,169 H405L probably benign Het
Gm27047 A G 6: 130,630,564 noncoding transcript Het
Grm1 T A 10: 10,719,563 T774S probably damaging Het
Gtse1 A C 15: 85,862,139 D52A probably benign Het
Kctd17 T A 15: 78,428,782 F42Y probably damaging Het
Kndc1 A G 7: 139,908,962 K178E probably damaging Het
Macf1 A G 4: 123,384,868 I5927T probably damaging Het
Maml2 A G 9: 13,705,895 N935S probably benign Het
Man2a1 A G 17: 64,712,300 I720V probably benign Het
Map3k5 C T 10: 20,023,653 H219Y possibly damaging Het
Map4k5 T C 12: 69,838,013 T314A possibly damaging Het
Mast3 A G 8: 70,784,733 V615A possibly damaging Het
Mcmbp C T 7: 128,704,524 V457I probably benign Het
Myt1l G A 12: 29,832,332 G509R unknown Het
Nacc1 T C 8: 84,676,154 I337V probably damaging Het
Nipbl T C 15: 8,330,296 D1475G probably benign Het
Orc1 T A 4: 108,599,940 D392E probably benign Het
Pappa2 T C 1: 158,814,785 T1297A possibly damaging Het
Plag1 C T 4: 3,905,538 V51I possibly damaging Het
Ppp1r12a G A 10: 108,253,347 E616K possibly damaging Het
Ptgs1 A G 2: 36,245,268 M415V probably benign Het
Ralgapa2 C T 2: 146,334,494 E1683K probably damaging Het
Rap2a T A 14: 120,478,994 F90I probably benign Het
Rcvrn A G 11: 67,700,049 E153G possibly damaging Het
Sharpin C A 15: 76,350,666 probably benign Het
Skil T A 3: 31,097,498 D56E probably benign Het
Slc22a18 G T 7: 143,479,345 G57W probably damaging Het
Sntb1 C G 15: 55,642,795 G461R probably damaging Het
Synj1 T C 16: 90,991,518 D154G probably damaging Het
Tbc1d24 A T 17: 24,181,772 N156K probably benign Het
Tcea1 A T 1: 4,880,345 probably benign Het
Tmc3 T C 7: 83,612,547 V611A probably damaging Het
Tnrc6c A G 11: 117,700,762 M1V probably null Het
Tomm5 A T 4: 45,106,689 probably benign Het
Ttc6 A G 12: 57,689,834 K1207R probably null Het
Ttn T C 2: 76,761,104 T12747A possibly damaging Het
Ttn A T 2: 76,885,136 probably benign Het
Utrn T C 10: 12,693,431 D1147G probably benign Het
Vmn1r53 T C 6: 90,223,413 I310V probably benign Het
Washc4 A C 10: 83,574,522 D658A probably benign Het
Wrap73 G A 4: 154,145,274 R34Q probably damaging Het
Ylpm1 T C 12: 85,030,229 F1243L probably benign Het
Zbtb24 T C 10: 41,464,788 S605P probably benign Het
Zfy1 T G Y: 726,205 H520P possibly damaging Het
Other mutations in Lrrc74b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01810:Lrrc74b APN 16 17545558 missense probably benign 0.00
IGL02402:Lrrc74b APN 16 17558164 splice site probably benign
P0043:Lrrc74b UTSW 16 17558159 splice site probably benign
R0131:Lrrc74b UTSW 16 17553152 missense probably damaging 1.00
R0131:Lrrc74b UTSW 16 17553152 missense probably damaging 1.00
R0132:Lrrc74b UTSW 16 17553152 missense probably damaging 1.00
R0829:Lrrc74b UTSW 16 17558390 splice site probably benign
R1463:Lrrc74b UTSW 16 17559873 missense probably benign 0.00
R1681:Lrrc74b UTSW 16 17559753 missense probably damaging 1.00
R1938:Lrrc74b UTSW 16 17553194 missense probably benign 0.41
R4790:Lrrc74b UTSW 16 17549853 missense probably damaging 1.00
R6198:Lrrc74b UTSW 16 17548786 missense probably damaging 0.96
R7910:Lrrc74b UTSW 16 17558349 nonsense probably null
R7991:Lrrc74b UTSW 16 17558349 nonsense probably null
X0063:Lrrc74b UTSW 16 17553208 missense probably benign 0.05
Z1177:Lrrc74b UTSW 16 17558168 critical splice donor site probably null
Z1177:Lrrc74b UTSW 16 17558172 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTTTCAGGCAGAAGCTGGGTG -3'
(R):5'- CTGACCAGGCAGAATGTGTG -3'

Sequencing Primer
(F):5'- AGAAGCTGGGTGCCGTC -3'
(R):5'- CTCTGACCTGGCAGAGTGTG -3'
Posted On2016-09-01