Incidental Mutation 'R3005:Nlrp4c'
ID 257415
Institutional Source Beutler Lab
Gene Symbol Nlrp4c
Ensembl Gene ENSMUSG00000034690
Gene Name NLR family, pyrin domain containing 4C
Synonyms Nalp-alpha, Rnh2, Nalp4c
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R3005 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 6045161-6105150 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 6065525 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 142 (V142M)
Ref Sequence ENSEMBL: ENSMUSP00000146613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037728] [ENSMUST00000121583] [ENSMUST00000208360]
AlphaFold Q3TKR3
Predicted Effect probably benign
Transcript: ENSMUST00000037728
AA Change: V142M

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000046503
Gene: ENSMUSG00000034690
AA Change: V142M

DomainStartEndE-ValueType
PYRIN 6 89 1.41e-34 SMART
Pfam:NACHT 148 317 4.5e-40 PFAM
LRR 689 716 2.91e0 SMART
LRR 718 745 1.49e1 SMART
LRR 746 772 2.5e1 SMART
LRR 774 801 6.24e1 SMART
LRR 802 829 3.07e-1 SMART
LRR 831 858 4.11e-1 SMART
LRR 859 886 3.31e-6 SMART
LRR 888 915 6.16e0 SMART
LRR 916 943 9.24e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121583
AA Change: V142M

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113824
Gene: ENSMUSG00000034690
AA Change: V142M

DomainStartEndE-ValueType
PYRIN 6 89 1.41e-34 SMART
Pfam:NACHT 148 317 1.7e-39 PFAM
LRR 689 716 2.91e0 SMART
LRR 718 745 1.49e1 SMART
LRR 746 772 2.5e1 SMART
LRR 774 801 6.24e1 SMART
LRR 802 829 3.07e-1 SMART
LRR 831 858 4.11e-1 SMART
LRR 859 886 3.31e-6 SMART
LRR 888 915 6.16e0 SMART
LRR 916 943 9.24e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207267
Predicted Effect probably benign
Transcript: ENSMUST00000208360
AA Change: V142M

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009O20Rik T A 18: 38,259,959 (GRCm38) N405K possibly damaging Het
4931406P16Rik T C 7: 34,284,784 (GRCm38) E138G probably damaging Het
Cep162 C A 9: 87,232,060 (GRCm38) V320L probably benign Het
Cnga1 T A 5: 72,605,107 (GRCm38) I355F probably damaging Het
Csnk1e T C 15: 79,438,805 (GRCm38) I15V probably benign Het
Exosc8 T C 3: 54,732,147 (GRCm38) probably null Het
Gstm3 G T 3: 107,967,607 (GRCm38) Q110K probably benign Het
Hace1 G A 10: 45,648,863 (GRCm38) G242R probably damaging Het
Lcn6 T A 2: 25,677,249 (GRCm38) probably null Het
Msh6 A G 17: 87,988,285 (GRCm38) E1088G probably benign Het
Nup50 G A 15: 84,929,460 (GRCm38) probably null Het
Olfr577 C T 7: 102,973,258 (GRCm38) V245I possibly damaging Het
Ppp2r5a A T 1: 191,358,976 (GRCm38) F218Y probably damaging Het
Ptov1 T C 7: 44,864,462 (GRCm38) N52S probably damaging Het
Rif1 G A 2: 52,082,764 (GRCm38) A303T probably damaging Het
Ror1 T A 4: 100,441,764 (GRCm38) V778E probably damaging Het
Tcaf3 A T 6: 42,594,044 (GRCm38) L258H probably damaging Het
Utp20 C A 10: 88,777,455 (GRCm38) K1321N probably damaging Het
Vmn2r54 T A 7: 12,615,294 (GRCm38) Q787L probably benign Het
Other mutations in Nlrp4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00727:Nlrp4c APN 7 6,066,702 (GRCm38) missense possibly damaging 0.80
IGL01458:Nlrp4c APN 7 6,100,784 (GRCm38) missense possibly damaging 0.94
IGL01464:Nlrp4c APN 7 6,100,784 (GRCm38) missense possibly damaging 0.94
IGL01470:Nlrp4c APN 7 6,100,784 (GRCm38) missense possibly damaging 0.94
IGL01481:Nlrp4c APN 7 6,100,784 (GRCm38) missense possibly damaging 0.94
IGL01531:Nlrp4c APN 7 6,060,656 (GRCm38) missense probably damaging 1.00
IGL01595:Nlrp4c APN 7 6,066,112 (GRCm38) nonsense probably null
IGL02087:Nlrp4c APN 7 6,092,583 (GRCm38) missense probably damaging 1.00
IGL02226:Nlrp4c APN 7 6,066,829 (GRCm38) missense possibly damaging 0.78
IGL02588:Nlrp4c APN 7 6,084,648 (GRCm38) missense probably benign 0.25
IGL02822:Nlrp4c APN 7 6,065,727 (GRCm38) missense probably damaging 1.00
IGL02884:Nlrp4c APN 7 6,098,952 (GRCm38) missense probably damaging 1.00
IGL02943:Nlrp4c APN 7 6,065,975 (GRCm38) missense probably damaging 0.96
IGL03017:Nlrp4c APN 7 6,084,680 (GRCm38) missense probably benign 0.23
R0347:Nlrp4c UTSW 7 6,066,416 (GRCm38) missense possibly damaging 0.69
R0579:Nlrp4c UTSW 7 6,060,845 (GRCm38) missense probably benign 0.05
R1051:Nlrp4c UTSW 7 6,065,943 (GRCm38) missense probably benign 0.01
R1596:Nlrp4c UTSW 7 6,066,778 (GRCm38) missense probably benign
R1636:Nlrp4c UTSW 7 6,066,738 (GRCm38) missense possibly damaging 0.64
R1739:Nlrp4c UTSW 7 6,073,222 (GRCm38) missense probably damaging 1.00
R1766:Nlrp4c UTSW 7 6,073,114 (GRCm38) missense probably benign 0.00
R1824:Nlrp4c UTSW 7 6,066,956 (GRCm38) splice site probably null
R1827:Nlrp4c UTSW 7 6,065,766 (GRCm38) missense probably damaging 1.00
R1858:Nlrp4c UTSW 7 6,084,656 (GRCm38) missense probably benign 0.02
R1902:Nlrp4c UTSW 7 6,065,819 (GRCm38) missense probably damaging 0.98
R2217:Nlrp4c UTSW 7 6,073,114 (GRCm38) missense probably benign
R2415:Nlrp4c UTSW 7 6,066,048 (GRCm38) missense probably damaging 1.00
R3004:Nlrp4c UTSW 7 6,065,525 (GRCm38) missense probably benign 0.28
R3410:Nlrp4c UTSW 7 6,092,570 (GRCm38) missense possibly damaging 0.69
R3411:Nlrp4c UTSW 7 6,092,570 (GRCm38) missense possibly damaging 0.69
R3710:Nlrp4c UTSW 7 6,065,628 (GRCm38) missense probably damaging 0.99
R4072:Nlrp4c UTSW 7 6,072,710 (GRCm38) missense probably benign 0.00
R4073:Nlrp4c UTSW 7 6,072,710 (GRCm38) missense probably benign 0.00
R4075:Nlrp4c UTSW 7 6,072,710 (GRCm38) missense probably benign 0.00
R4076:Nlrp4c UTSW 7 6,072,710 (GRCm38) missense probably benign 0.00
R4542:Nlrp4c UTSW 7 6,100,827 (GRCm38) nonsense probably null
R4709:Nlrp4c UTSW 7 6,065,425 (GRCm38) missense probably benign 0.31
R4776:Nlrp4c UTSW 7 6,066,126 (GRCm38) missense probably benign 0.41
R5043:Nlrp4c UTSW 7 6,066,825 (GRCm38) missense probably benign 0.01
R5258:Nlrp4c UTSW 7 6,066,623 (GRCm38) missense probably benign 0.06
R6164:Nlrp4c UTSW 7 6,092,508 (GRCm38) missense probably damaging 1.00
R6383:Nlrp4c UTSW 7 6,066,053 (GRCm38) missense probably benign
R6650:Nlrp4c UTSW 7 6,065,949 (GRCm38) missense probably damaging 0.99
R6810:Nlrp4c UTSW 7 6,066,755 (GRCm38) missense probably damaging 1.00
R7095:Nlrp4c UTSW 7 6,060,793 (GRCm38) missense probably damaging 0.97
R7102:Nlrp4c UTSW 7 6,065,709 (GRCm38) nonsense probably null
R7104:Nlrp4c UTSW 7 6,065,709 (GRCm38) nonsense probably null
R7232:Nlrp4c UTSW 7 6,065,709 (GRCm38) nonsense probably null
R7444:Nlrp4c UTSW 7 6,092,596 (GRCm38) nonsense probably null
R7705:Nlrp4c UTSW 7 6,072,636 (GRCm38) missense probably damaging 0.97
R7966:Nlrp4c UTSW 7 6,066,323 (GRCm38) missense probably damaging 0.99
R8506:Nlrp4c UTSW 7 6,100,776 (GRCm38) missense possibly damaging 0.47
R8677:Nlrp4c UTSW 7 6,072,645 (GRCm38) missense probably damaging 0.99
R8708:Nlrp4c UTSW 7 6,065,604 (GRCm38) missense probably damaging 1.00
R8838:Nlrp4c UTSW 7 6,066,338 (GRCm38) missense
R9031:Nlrp4c UTSW 7 6,104,609 (GRCm38) makesense probably null
R9193:Nlrp4c UTSW 7 6,092,622 (GRCm38) missense probably benign
R9329:Nlrp4c UTSW 7 6,065,499 (GRCm38) missense probably benign
R9388:Nlrp4c UTSW 7 6,066,875 (GRCm38) nonsense probably null
R9474:Nlrp4c UTSW 7 6,065,627 (GRCm38) missense possibly damaging 0.83
R9567:Nlrp4c UTSW 7 6,060,625 (GRCm38) missense probably benign 0.17
R9702:Nlrp4c UTSW 7 6,065,802 (GRCm38) missense probably benign 0.00
X0060:Nlrp4c UTSW 7 6,065,918 (GRCm38) missense probably damaging 1.00
Z1088:Nlrp4c UTSW 7 6,066,636 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGGTCAGACTATGTGGATGAATG -3'
(R):5'- CAATTCTGCCAGGCTTGCTC -3'

Sequencing Primer
(F):5'- GTGGATGAATGTTTAACTTAACGTTG -3'
(R):5'- GCCAGGCTTGCTCTCTTCATC -3'
Posted On 2015-01-11