Incidental Mutation 'PIT4520001:Lrrc43'
ID 555172
Institutional Source Beutler Lab
Gene Symbol Lrrc43
Ensembl Gene ENSMUSG00000063409
Gene Name leucine rich repeat containing 43
Synonyms LOC381741
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # PIT4520001 (G1)
Quality Score 178.009
Status Not validated
Chromosome 5
Chromosomal Location 123627368-123646268 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 123630530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 131 (V131A)
Ref Sequence ENSEMBL: ENSMUSP00000091885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094327] [ENSMUST00000121444] [ENSMUST00000196809] [ENSMUST00000198463]
AlphaFold Q3V0L5
Predicted Effect possibly damaging
Transcript: ENSMUST00000094327
AA Change: V131A

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000091885
Gene: ENSMUSG00000063409
AA Change: V131A

DomainStartEndE-ValueType
low complexity region 63 80 N/A INTRINSIC
SCOP:d1a9na_ 117 262 3e-16 SMART
low complexity region 389 402 N/A INTRINSIC
low complexity region 537 565 N/A INTRINSIC
low complexity region 614 629 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000121444
AA Change: V131A

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113933
Gene: ENSMUSG00000063409
AA Change: V131A

DomainStartEndE-ValueType
low complexity region 63 80 N/A INTRINSIC
SCOP:d1a9na_ 117 262 4e-16 SMART
low complexity region 389 402 N/A INTRINSIC
low complexity region 530 558 N/A INTRINSIC
low complexity region 607 622 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000196809
AA Change: V131A

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143602
Gene: ENSMUSG00000063409
AA Change: V131A

DomainStartEndE-ValueType
low complexity region 63 80 N/A INTRINSIC
SCOP:d1a9na_ 117 262 2e-16 SMART
low complexity region 389 402 N/A INTRINSIC
low complexity region 537 565 N/A INTRINSIC
low complexity region 635 652 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000198463
SMART Domains Protein: ENSMUSP00000142507
Gene: ENSMUSG00000029437

DomainStartEndE-ValueType
Pfam:IL31 40 179 1.7e-64 PFAM
Coding Region Coverage
  • 1x: 93.5%
  • 3x: 91.1%
  • 10x: 86.1%
  • 20x: 75.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 A G 11: 7,117,133 (GRCm39) N1000S probably damaging Het
Adgrb1 A G 15: 74,413,508 (GRCm39) D564G probably damaging Het
Ankmy2 A G 12: 36,207,390 (GRCm39) E12G probably benign Het
Arid1a C T 4: 133,409,227 (GRCm39) S1375N unknown Het
Atp1a2 G A 1: 172,106,941 (GRCm39) A793V probably benign Het
Atp8b1 T C 18: 64,701,251 (GRCm39) Y369C probably benign Het
Catsperg2 A G 7: 29,409,586 (GRCm39) Y536H possibly damaging Het
Ccdc178 A G 18: 22,200,470 (GRCm39) Y445H probably damaging Het
Cep170 G T 1: 176,607,765 (GRCm39) N230K unknown Het
Cftr A G 6: 18,277,842 (GRCm39) I977V probably benign Het
Chek2 A G 5: 111,011,195 (GRCm39) Y331C probably damaging Het
Chst13 A T 6: 90,286,167 (GRCm39) I265K probably benign Het
Coil T C 11: 88,872,437 (GRCm39) M266T probably benign Het
Col16a1 T A 4: 129,945,456 (GRCm39) C28S unknown Het
Col3a1 T C 1: 45,374,943 (GRCm39) probably null Het
Csmd1 C T 8: 15,956,023 (GRCm39) V3395M probably benign Het
Cyp51 A G 5: 4,151,200 (GRCm39) V143A probably damaging Het
Eif2ak1 C T 5: 143,836,027 (GRCm39) Q573* probably null Het
Eif2ak4 T A 2: 118,292,808 (GRCm39) I1344N probably damaging Het
Fhip1a G A 3: 85,579,779 (GRCm39) Q809* probably null Het
Gen1 A G 12: 11,291,509 (GRCm39) V825A probably benign Het
Gm28042 A T 2: 119,870,148 (GRCm39) K696* probably null Het
Gm4952 A G 19: 12,602,048 (GRCm39) Y152C probably benign Het
Hdac3 G A 18: 38,074,817 (GRCm39) T308I probably damaging Het
Hpx T C 7: 105,241,341 (GRCm39) T357A probably benign Het
Hscb A T 5: 110,983,851 (GRCm39) Y139N probably damaging Het
Kcnk9 T A 15: 72,384,332 (GRCm39) H282L probably benign Het
Kdm2b G A 5: 123,079,110 (GRCm39) T287M probably damaging Het
Kif19a C T 11: 114,672,034 (GRCm39) T207M probably damaging Het
Kmt2c A C 5: 25,520,664 (GRCm39) N1815K probably benign Het
Ktn1 C T 14: 47,923,774 (GRCm39) T511M probably damaging Het
Lrp1 C G 10: 127,443,843 (GRCm39) Q141H possibly damaging Het
Man1b1 T A 2: 25,233,282 (GRCm39) H218Q probably damaging Het
Mapk8ip2 T A 15: 89,344,900 (GRCm39) C766S probably damaging Het
Mfn1 A G 3: 32,615,695 (GRCm39) N353D probably benign Het
Mtcl1 A T 17: 66,692,907 (GRCm39) L474Q possibly damaging Het
Mtr T A 13: 12,212,871 (GRCm39) R915* probably null Het
Myh6 C A 14: 55,187,581 (GRCm39) V1263L probably benign Het
Nt5m C A 11: 59,765,415 (GRCm39) L148M probably benign Het
Or4a67 A G 2: 88,597,921 (GRCm39) V246A possibly damaging Het
Or51t4 A T 7: 102,597,921 (GRCm39) D83V probably damaging Het
Or8k21 T C 2: 86,145,142 (GRCm39) I163V possibly damaging Het
Pbrm1 T A 14: 30,789,818 (GRCm39) F811I probably damaging Het
Pcnt A G 10: 76,256,069 (GRCm39) S724P probably damaging Het
Pfdn5 C A 15: 102,237,158 (GRCm39) D98E probably benign Het
Ptprs G A 17: 56,721,980 (GRCm39) P1715S probably damaging Het
Rtkn2 T A 10: 67,823,291 (GRCm39) L65Q probably damaging Het
Scn2a G A 2: 65,518,763 (GRCm39) R379H probably damaging Het
Scn5a G T 9: 119,363,636 (GRCm39) D501E possibly damaging Het
Spn C A 7: 126,735,611 (GRCm39) G299W probably damaging Het
St6galnac1 T C 11: 116,660,175 (GRCm39) N46S probably benign Het
Stx19 A G 16: 62,642,871 (GRCm39) D229G probably benign Het
Tmc6 A T 11: 117,663,556 (GRCm39) M552K possibly damaging Het
Tnpo3 G C 6: 29,555,221 (GRCm39) D787E possibly damaging Het
Tyw5 T C 1: 57,427,674 (GRCm39) Y310C probably damaging Het
Vmn2r15 A G 5: 109,434,871 (GRCm39) F611S probably damaging Het
Vmn2r49 C T 7: 9,722,988 (GRCm39) M95I probably benign Het
Wfdc8 A G 2: 164,445,223 (GRCm39) S131P probably benign Het
Zfp407 A T 18: 84,450,545 (GRCm39) M1597K probably damaging Het
Other mutations in Lrrc43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02123:Lrrc43 APN 5 123,632,342 (GRCm39) missense probably damaging 1.00
IGL02364:Lrrc43 APN 5 123,639,275 (GRCm39) missense possibly damaging 0.77
R0019:Lrrc43 UTSW 5 123,639,378 (GRCm39) missense probably damaging 1.00
R0279:Lrrc43 UTSW 5 123,635,085 (GRCm39) splice site probably null
R0523:Lrrc43 UTSW 5 123,639,305 (GRCm39) missense probably damaging 1.00
R1723:Lrrc43 UTSW 5 123,630,276 (GRCm39) unclassified probably benign
R2104:Lrrc43 UTSW 5 123,639,177 (GRCm39) missense probably benign 0.00
R2213:Lrrc43 UTSW 5 123,641,640 (GRCm39) missense possibly damaging 0.94
R2269:Lrrc43 UTSW 5 123,641,354 (GRCm39) missense probably damaging 1.00
R4591:Lrrc43 UTSW 5 123,639,227 (GRCm39) missense probably benign 0.00
R4629:Lrrc43 UTSW 5 123,637,583 (GRCm39) missense probably damaging 1.00
R4727:Lrrc43 UTSW 5 123,632,366 (GRCm39) missense probably damaging 1.00
R4941:Lrrc43 UTSW 5 123,639,126 (GRCm39) missense probably benign 0.01
R4960:Lrrc43 UTSW 5 123,637,675 (GRCm39) missense probably benign 0.19
R5028:Lrrc43 UTSW 5 123,646,176 (GRCm39) missense probably damaging 1.00
R5387:Lrrc43 UTSW 5 123,637,734 (GRCm39) splice site probably null
R5653:Lrrc43 UTSW 5 123,637,643 (GRCm39) missense probably damaging 1.00
R6266:Lrrc43 UTSW 5 123,641,340 (GRCm39) missense probably damaging 1.00
R6323:Lrrc43 UTSW 5 123,641,949 (GRCm39) missense probably damaging 1.00
R6703:Lrrc43 UTSW 5 123,637,532 (GRCm39) missense possibly damaging 0.94
R6869:Lrrc43 UTSW 5 123,642,339 (GRCm39) critical splice donor site probably null
R6909:Lrrc43 UTSW 5 123,638,482 (GRCm39) missense probably benign 0.14
R7023:Lrrc43 UTSW 5 123,641,826 (GRCm39) missense probably damaging 1.00
R7910:Lrrc43 UTSW 5 123,639,084 (GRCm39) missense probably benign 0.27
R7910:Lrrc43 UTSW 5 123,630,470 (GRCm39) missense probably damaging 1.00
R8093:Lrrc43 UTSW 5 123,639,192 (GRCm39) missense probably benign 0.41
R8127:Lrrc43 UTSW 5 123,630,334 (GRCm39) missense probably damaging 1.00
R8351:Lrrc43 UTSW 5 123,632,328 (GRCm39) missense probably damaging 1.00
R8722:Lrrc43 UTSW 5 123,646,142 (GRCm39) missense possibly damaging 0.73
R8920:Lrrc43 UTSW 5 123,639,194 (GRCm39) missense probably benign 0.00
R9189:Lrrc43 UTSW 5 123,646,109 (GRCm39) missense probably benign 0.00
R9305:Lrrc43 UTSW 5 123,646,219 (GRCm39) missense unknown
R9544:Lrrc43 UTSW 5 123,641,307 (GRCm39) missense probably damaging 1.00
R9588:Lrrc43 UTSW 5 123,641,307 (GRCm39) missense probably damaging 1.00
X0024:Lrrc43 UTSW 5 123,639,381 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- GTCTGGAGGGAATTGGTACC -3'
(R):5'- CACTTAGCAGTTAAAGCGAGC -3'

Sequencing Primer
(F):5'- AGGAGGAGACACTGGTTCCC -3'
(R):5'- CTTAGCAGTTAAAGCGAGCAGAATG -3'
Posted On 2019-06-07