Incidental Mutation 'R6183:Lvrn'
ID 487648
Institutional Source Beutler Lab
Gene Symbol Lvrn
Ensembl Gene ENSMUSG00000024481
Gene Name laeverin
Synonyms 4833403I15Rik, Aqpep
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.342) question?
Stock # R6183 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 46983105-47040309 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46983752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 165 (N165S)
Ref Sequence ENSEMBL: ENSMUSP00000025358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025358]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000025358
AA Change: N165S

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000025358
Gene: ENSMUSG00000024481
AA Change: N165S

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Peptidase_M1 94 504 1.6e-110 PFAM
Pfam:ERAP1_C 645 968 2.5e-60 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T A 5: 8,968,718 (GRCm39) D352E probably benign Het
Adgrb3 T A 1: 25,133,451 (GRCm39) I972L probably damaging Het
Alg3 T C 16: 20,429,391 (GRCm39) Y33C probably benign Het
Atp1a3 C T 7: 24,681,177 (GRCm39) G816D probably damaging Het
Ccdc121 T C 5: 31,645,320 (GRCm39) Y358H probably damaging Het
Ces1g C T 8: 94,057,867 (GRCm39) V145M possibly damaging Het
Clip1 A G 5: 123,780,667 (GRCm39) S339P probably damaging Het
Col2a1 G T 15: 97,886,671 (GRCm39) T378N unknown Het
Dennd4b ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ACAGCAGCAGCAGCAGCAGCAGCAGCAG 3: 90,182,875 (GRCm39) probably benign Het
Dnah12 T A 14: 26,583,726 (GRCm39) L3207Q probably damaging Het
Efcab5 T C 11: 77,028,084 (GRCm39) T416A probably benign Het
Ephb1 A T 9: 102,072,524 (GRCm39) I85N probably damaging Het
Etnppl T C 3: 130,413,966 (GRCm39) C22R probably damaging Het
F830016B08Rik A G 18: 60,432,949 (GRCm39) T11A probably benign Het
Gm5458 C A 14: 19,649,712 (GRCm39) V171L probably damaging Het
Helb G T 10: 119,948,903 (GRCm39) probably null Het
Hnrnpll A G 17: 80,357,305 (GRCm39) V237A possibly damaging Het
Hps3 T C 3: 20,063,032 (GRCm39) T712A probably benign Het
Ibsp A G 5: 104,453,896 (GRCm39) E78G possibly damaging Het
Ighv1-62-2 G A 12: 115,410,056 (GRCm39) A111V probably damaging Het
Igkv4-63 G T 6: 69,355,108 (GRCm39) Q58K probably damaging Het
Iqcg T C 16: 32,851,293 (GRCm39) Y226C probably damaging Het
Khdc1a A T 1: 21,420,332 (GRCm39) D30V possibly damaging Het
Krtap5-5 C A 7: 141,783,524 (GRCm39) C42F unknown Het
Lmod3 T C 6: 97,229,514 (GRCm39) N7D probably damaging Het
Ms4a4c A G 19: 11,403,593 (GRCm39) T192A possibly damaging Het
Ncald A T 15: 37,397,476 (GRCm39) V68D probably damaging Het
Or4e5 T A 14: 52,728,188 (GRCm39) T78S probably benign Het
Pcdhgb7 A T 18: 37,885,315 (GRCm39) I162F probably damaging Het
Prokr1 T C 6: 87,565,834 (GRCm39) T4A possibly damaging Het
Qrich2 T A 11: 116,348,955 (GRCm39) probably benign Het
Rgl1 C T 1: 152,462,321 (GRCm39) E60K possibly damaging Het
Rtn1 A T 12: 72,455,265 (GRCm39) W21R probably benign Het
Scart2 A G 7: 139,875,947 (GRCm39) T404A possibly damaging Het
Spast A G 17: 74,680,353 (GRCm39) I438M probably damaging Het
Sptbn5 C T 2: 119,889,898 (GRCm39) probably benign Het
Sry C G Y: 2,662,975 (GRCm39) Q228H unknown Het
Tas1r1 A G 4: 152,116,998 (GRCm39) I212T probably damaging Het
Tbc1d1 A G 5: 64,432,768 (GRCm39) N439D probably damaging Het
Tjp2 C T 19: 24,078,155 (GRCm39) A913T probably damaging Het
Tnfrsf26 A G 7: 143,165,494 (GRCm39) L47P probably damaging Het
Unc13a A T 8: 72,097,310 (GRCm39) S1195T probably damaging Het
Usp54 T C 14: 20,602,313 (GRCm39) R1346G probably damaging Het
Vmn1r54 T A 6: 90,246,272 (GRCm39) M62K possibly damaging Het
Vmn2r125 A T 4: 156,702,364 (GRCm39) D50V probably damaging Het
Vmn2r66 T C 7: 84,644,766 (GRCm39) D548G possibly damaging Het
Vmn2r95 T A 17: 18,664,192 (GRCm39) N470K probably damaging Het
Zc3h7a A T 16: 10,965,234 (GRCm39) I633N possibly damaging Het
Other mutations in Lvrn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01287:Lvrn APN 18 46,997,733 (GRCm39) splice site probably benign
IGL01532:Lvrn APN 18 47,033,551 (GRCm39) missense probably damaging 1.00
IGL02430:Lvrn APN 18 47,027,797 (GRCm39) missense probably benign 0.03
IGL02573:Lvrn APN 18 47,010,016 (GRCm39) missense probably damaging 0.98
IGL02592:Lvrn APN 18 46,983,658 (GRCm39) missense probably damaging 1.00
IGL02754:Lvrn APN 18 47,023,971 (GRCm39) nonsense probably null
IGL03089:Lvrn APN 18 47,013,776 (GRCm39) missense probably damaging 0.99
IGL03209:Lvrn APN 18 47,022,565 (GRCm39) missense probably benign 0.00
IGL03333:Lvrn APN 18 46,997,731 (GRCm39) splice site probably benign
IGL03098:Lvrn UTSW 18 47,014,477 (GRCm39) critical splice acceptor site probably null
R0319:Lvrn UTSW 18 46,997,820 (GRCm39) missense probably damaging 1.00
R0391:Lvrn UTSW 18 46,983,533 (GRCm39) missense probably benign 0.01
R0398:Lvrn UTSW 18 47,013,760 (GRCm39) missense probably benign 0.06
R0432:Lvrn UTSW 18 47,038,366 (GRCm39) missense possibly damaging 0.94
R0456:Lvrn UTSW 18 46,997,883 (GRCm39) critical splice donor site probably null
R1458:Lvrn UTSW 18 47,015,452 (GRCm39) splice site probably benign
R1612:Lvrn UTSW 18 47,027,770 (GRCm39) missense probably damaging 0.99
R1935:Lvrn UTSW 18 47,011,387 (GRCm39) missense probably benign 0.10
R1936:Lvrn UTSW 18 47,011,387 (GRCm39) missense probably benign 0.10
R1959:Lvrn UTSW 18 47,027,784 (GRCm39) missense probably damaging 1.00
R2000:Lvrn UTSW 18 47,038,374 (GRCm39) missense probably benign 0.04
R2022:Lvrn UTSW 18 46,999,503 (GRCm39) missense possibly damaging 0.81
R2106:Lvrn UTSW 18 47,011,356 (GRCm39) missense probably damaging 1.00
R2197:Lvrn UTSW 18 47,011,409 (GRCm39) missense probably benign 0.03
R2371:Lvrn UTSW 18 47,011,230 (GRCm39) splice site probably null
R4125:Lvrn UTSW 18 47,010,036 (GRCm39) missense possibly damaging 0.53
R4606:Lvrn UTSW 18 46,997,832 (GRCm39) missense possibly damaging 0.92
R4830:Lvrn UTSW 18 47,038,418 (GRCm39) missense probably damaging 1.00
R4866:Lvrn UTSW 18 47,026,768 (GRCm39) missense probably damaging 1.00
R4900:Lvrn UTSW 18 47,014,479 (GRCm39) missense probably damaging 1.00
R4900:Lvrn UTSW 18 47,026,768 (GRCm39) missense probably damaging 1.00
R4924:Lvrn UTSW 18 47,027,792 (GRCm39) missense probably damaging 1.00
R4948:Lvrn UTSW 18 47,013,803 (GRCm39) missense probably damaging 1.00
R5167:Lvrn UTSW 18 47,013,814 (GRCm39) missense probably damaging 0.99
R5527:Lvrn UTSW 18 47,006,870 (GRCm39) missense probably damaging 1.00
R5581:Lvrn UTSW 18 47,023,932 (GRCm39) missense probably benign 0.17
R5615:Lvrn UTSW 18 46,983,395 (GRCm39) missense possibly damaging 0.55
R5859:Lvrn UTSW 18 47,026,816 (GRCm39) missense probably damaging 1.00
R6149:Lvrn UTSW 18 47,017,499 (GRCm39) missense probably benign 0.10
R6378:Lvrn UTSW 18 47,028,024 (GRCm39) missense probably benign 0.00
R6838:Lvrn UTSW 18 47,023,947 (GRCm39) missense possibly damaging 0.88
R6993:Lvrn UTSW 18 47,015,365 (GRCm39) missense probably benign 0.18
R7017:Lvrn UTSW 18 46,983,745 (GRCm39) missense probably benign 0.00
R7168:Lvrn UTSW 18 47,014,389 (GRCm39) missense probably benign 0.29
R7190:Lvrn UTSW 18 47,033,570 (GRCm39) missense probably benign 0.02
R7315:Lvrn UTSW 18 47,010,051 (GRCm39) missense probably benign 0.34
R8293:Lvrn UTSW 18 46,983,632 (GRCm39) missense possibly damaging 0.75
R8375:Lvrn UTSW 18 46,983,289 (GRCm39) missense probably damaging 0.98
R9563:Lvrn UTSW 18 47,017,506 (GRCm39) missense probably damaging 1.00
R9564:Lvrn UTSW 18 47,017,506 (GRCm39) missense probably damaging 1.00
R9565:Lvrn UTSW 18 47,017,506 (GRCm39) missense probably damaging 1.00
R9585:Lvrn UTSW 18 47,011,411 (GRCm39) critical splice donor site probably null
R9599:Lvrn UTSW 18 46,999,494 (GRCm39) missense probably benign 0.37
R9694:Lvrn UTSW 18 47,033,609 (GRCm39) missense probably damaging 1.00
R9709:Lvrn UTSW 18 47,006,847 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- TCCCACTTCACTATGATCTGGAGC -3'
(R):5'- CATAGCCCTTACCTGAGCTC -3'

Sequencing Primer
(F):5'- CACTATGATCTGGAGCTGTGGCC -3'
(R):5'- CTGAGCTCATCTTCATCATGGTAGAG -3'
Posted On 2017-10-10