Incidental Mutation 'R1051:Nlrp4c'
ID 93946
Institutional Source Beutler Lab
Gene Symbol Nlrp4c
Ensembl Gene ENSMUSG00000034690
Gene Name NLR family, pyrin domain containing 4C
Synonyms Nalp4c, Nalp-alpha, Rnh2
MMRRC Submission 039141-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R1051 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 6048160-6108148 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6068942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 281 (E281G)
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: E281G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000046503
Gene: ENSMUSG00000034690
AA Change: E281G

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: E281G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000113824
Gene: ENSMUSG00000034690
AA Change: E281G

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: E281G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 A G 5: 121,764,143 (GRCm39) S929P probably damaging Het
Acot1 T C 12: 84,056,378 (GRCm39) V32A probably damaging Het
Ank1 G A 8: 23,583,956 (GRCm39) G353D probably damaging Het
Baiap2l1 T A 5: 144,222,943 (GRCm39) H97L probably damaging Het
Casp8ap2 C A 4: 32,640,790 (GRCm39) P615T probably benign Het
Chrng A T 1: 87,136,785 (GRCm39) D218V possibly damaging Het
Col5a3 C A 9: 20,686,531 (GRCm39) V1365L unknown Het
Ddx49 A G 8: 70,747,335 (GRCm39) probably null Het
Dnaaf2 T C 12: 69,244,569 (GRCm39) D164G probably damaging Het
Eefsec A T 6: 88,274,829 (GRCm39) D378E probably benign Het
Farsb T C 1: 78,420,287 (GRCm39) I535V possibly damaging Het
Fat1 T G 8: 45,497,543 (GRCm39) S4343A probably damaging Het
Fbn2 T C 18: 58,145,425 (GRCm39) Y2737C probably damaging Het
Gtf3c1 T C 7: 125,306,821 (GRCm39) E10G probably damaging Het
Has1 T C 17: 18,068,541 (GRCm39) D271G probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Il12rb2 A G 6: 67,333,719 (GRCm39) F187L probably benign Het
Kdsr G A 1: 106,675,310 (GRCm39) Q109* probably null Het
Klb G A 5: 65,536,670 (GRCm39) A667T probably damaging Het
Krba1 C T 6: 48,390,332 (GRCm39) R704C possibly damaging Het
Lenep A T 3: 89,309,780 (GRCm39) I56N possibly damaging Het
Lipc T C 9: 70,709,398 (GRCm39) I450V probably benign Het
Myh6 T C 14: 55,186,984 (GRCm39) N1329S probably benign Het
Myo5c T A 9: 75,198,165 (GRCm39) M1330K probably benign Het
Myo9b A G 8: 71,808,466 (GRCm39) E1691G probably damaging Het
Ninl C G 2: 150,812,046 (GRCm39) E240Q probably damaging Het
Nlgn1 T C 3: 25,966,869 (GRCm39) S195G probably damaging Het
Olfm2 T C 9: 20,579,759 (GRCm39) T331A probably damaging Het
Or1o1 A T 17: 37,717,341 (GRCm39) I301F possibly damaging Het
Or2d2 T A 7: 106,728,123 (GRCm39) D159V possibly damaging Het
Or8b9 T C 9: 37,766,657 (GRCm39) I181T probably damaging Het
Plekhh2 T C 17: 84,829,255 (GRCm39) probably null Het
Pramel4 A G 4: 143,795,068 (GRCm39) E485G possibly damaging Het
Prss12 A G 3: 123,279,174 (GRCm39) D417G probably null Het
Rhpn1 A T 15: 75,584,241 (GRCm39) Y456F probably damaging Het
Rnpc3 C T 3: 113,423,595 (GRCm39) E37K possibly damaging Het
Rp1l1 T G 14: 64,269,984 (GRCm39) L1857V probably damaging Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Sepsecs C T 5: 52,822,698 (GRCm39) A18T probably damaging Het
Sgms1 T A 19: 32,137,439 (GRCm39) L42F probably damaging Het
Sipa1l1 A T 12: 82,496,119 (GRCm39) D1720V possibly damaging Het
Slc13a3 A T 2: 165,250,740 (GRCm39) probably null Het
Slc25a40 A T 5: 8,480,450 (GRCm39) M67L probably benign Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Spesp1 T C 9: 62,179,924 (GRCm39) D328G possibly damaging Het
Sspo T A 6: 48,468,389 (GRCm39) C4363* probably null Het
Tbc1d8 C T 1: 39,420,534 (GRCm39) W666* probably null Het
Tubgcp2 T C 7: 139,578,809 (GRCm39) D721G probably benign Het
Vps54 CTTAAT CT 11: 21,228,001 (GRCm39) probably null Het
Wsb1 T C 11: 79,137,059 (GRCm39) S113G probably damaging Het
Zfp382 T C 7: 29,833,435 (GRCm39) F362S probably damaging Het
Zfp553 G T 7: 126,835,977 (GRCm39) G511* probably null Het
Zfp568 C T 7: 29,721,954 (GRCm39) Q299* probably null Het
Zfp688 G A 7: 127,018,397 (GRCm39) P243S probably damaging Het
Other mutations in Nlrp4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00727:Nlrp4c APN 7 6,069,701 (GRCm39) missense possibly damaging 0.80
IGL01458:Nlrp4c APN 7 6,103,783 (GRCm39) missense possibly damaging 0.94
IGL01464:Nlrp4c APN 7 6,103,783 (GRCm39) missense possibly damaging 0.94
IGL01470:Nlrp4c APN 7 6,103,783 (GRCm39) missense possibly damaging 0.94
IGL01481:Nlrp4c APN 7 6,103,783 (GRCm39) missense possibly damaging 0.94
IGL01531:Nlrp4c APN 7 6,063,655 (GRCm39) missense probably damaging 1.00
IGL01595:Nlrp4c APN 7 6,069,111 (GRCm39) nonsense probably null
IGL02087:Nlrp4c APN 7 6,095,582 (GRCm39) missense probably damaging 1.00
IGL02226:Nlrp4c APN 7 6,069,828 (GRCm39) missense possibly damaging 0.78
IGL02588:Nlrp4c APN 7 6,087,647 (GRCm39) missense probably benign 0.25
IGL02822:Nlrp4c APN 7 6,068,726 (GRCm39) missense probably damaging 1.00
IGL02884:Nlrp4c APN 7 6,101,951 (GRCm39) missense probably damaging 1.00
IGL02943:Nlrp4c APN 7 6,068,974 (GRCm39) missense probably damaging 0.96
IGL03017:Nlrp4c APN 7 6,087,679 (GRCm39) missense probably benign 0.23
R0347:Nlrp4c UTSW 7 6,069,415 (GRCm39) missense possibly damaging 0.69
R0579:Nlrp4c UTSW 7 6,063,844 (GRCm39) missense probably benign 0.05
R1596:Nlrp4c UTSW 7 6,069,777 (GRCm39) missense probably benign
R1636:Nlrp4c UTSW 7 6,069,737 (GRCm39) missense possibly damaging 0.64
R1739:Nlrp4c UTSW 7 6,076,221 (GRCm39) missense probably damaging 1.00
R1766:Nlrp4c UTSW 7 6,076,113 (GRCm39) missense probably benign 0.00
R1824:Nlrp4c UTSW 7 6,069,955 (GRCm39) splice site probably null
R1827:Nlrp4c UTSW 7 6,068,765 (GRCm39) missense probably damaging 1.00
R1858:Nlrp4c UTSW 7 6,087,655 (GRCm39) missense probably benign 0.02
R1902:Nlrp4c UTSW 7 6,068,818 (GRCm39) missense probably damaging 0.98
R2217:Nlrp4c UTSW 7 6,076,113 (GRCm39) missense probably benign
R2415:Nlrp4c UTSW 7 6,069,047 (GRCm39) missense probably damaging 1.00
R3004:Nlrp4c UTSW 7 6,068,524 (GRCm39) missense probably benign 0.28
R3005:Nlrp4c UTSW 7 6,068,524 (GRCm39) missense probably benign 0.28
R3410:Nlrp4c UTSW 7 6,095,569 (GRCm39) missense possibly damaging 0.69
R3411:Nlrp4c UTSW 7 6,095,569 (GRCm39) missense possibly damaging 0.69
R3710:Nlrp4c UTSW 7 6,068,627 (GRCm39) missense probably damaging 0.99
R4072:Nlrp4c UTSW 7 6,075,709 (GRCm39) missense probably benign 0.00
R4073:Nlrp4c UTSW 7 6,075,709 (GRCm39) missense probably benign 0.00
R4075:Nlrp4c UTSW 7 6,075,709 (GRCm39) missense probably benign 0.00
R4076:Nlrp4c UTSW 7 6,075,709 (GRCm39) missense probably benign 0.00
R4542:Nlrp4c UTSW 7 6,103,826 (GRCm39) nonsense probably null
R4709:Nlrp4c UTSW 7 6,068,424 (GRCm39) missense probably benign 0.31
R4776:Nlrp4c UTSW 7 6,069,125 (GRCm39) missense probably benign 0.41
R5043:Nlrp4c UTSW 7 6,069,824 (GRCm39) missense probably benign 0.01
R5258:Nlrp4c UTSW 7 6,069,622 (GRCm39) missense probably benign 0.06
R6164:Nlrp4c UTSW 7 6,095,507 (GRCm39) missense probably damaging 1.00
R6383:Nlrp4c UTSW 7 6,069,052 (GRCm39) missense probably benign
R6650:Nlrp4c UTSW 7 6,068,948 (GRCm39) missense probably damaging 0.99
R6810:Nlrp4c UTSW 7 6,069,754 (GRCm39) missense probably damaging 1.00
R7095:Nlrp4c UTSW 7 6,063,792 (GRCm39) missense probably damaging 0.97
R7102:Nlrp4c UTSW 7 6,068,708 (GRCm39) nonsense probably null
R7104:Nlrp4c UTSW 7 6,068,708 (GRCm39) nonsense probably null
R7232:Nlrp4c UTSW 7 6,068,708 (GRCm39) nonsense probably null
R7444:Nlrp4c UTSW 7 6,095,595 (GRCm39) nonsense probably null
R7705:Nlrp4c UTSW 7 6,075,635 (GRCm39) missense probably damaging 0.97
R7966:Nlrp4c UTSW 7 6,069,322 (GRCm39) missense probably damaging 0.99
R8506:Nlrp4c UTSW 7 6,103,775 (GRCm39) missense possibly damaging 0.47
R8677:Nlrp4c UTSW 7 6,075,644 (GRCm39) missense probably damaging 0.99
R8708:Nlrp4c UTSW 7 6,068,603 (GRCm39) missense probably damaging 1.00
R8838:Nlrp4c UTSW 7 6,069,337 (GRCm39) missense
R9031:Nlrp4c UTSW 7 6,107,608 (GRCm39) makesense probably null
R9193:Nlrp4c UTSW 7 6,095,621 (GRCm39) missense probably benign
R9329:Nlrp4c UTSW 7 6,068,498 (GRCm39) missense probably benign
R9388:Nlrp4c UTSW 7 6,069,874 (GRCm39) nonsense probably null
R9474:Nlrp4c UTSW 7 6,068,626 (GRCm39) missense possibly damaging 0.83
R9567:Nlrp4c UTSW 7 6,063,624 (GRCm39) missense probably benign 0.17
R9702:Nlrp4c UTSW 7 6,068,801 (GRCm39) missense probably benign 0.00
X0060:Nlrp4c UTSW 7 6,068,917 (GRCm39) missense probably damaging 1.00
Z1088:Nlrp4c UTSW 7 6,069,635 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGATCTCCAAAGAGTGGCCCAAAAC -3'
(R):5'- CACAGGGACCTGACATACAGTGAAC -3'

Sequencing Primer
(F):5'- CCAACCGGAGAAACTCTTATTTGTC -3'
(R):5'- TATCTTGGAACAAGCTGCGG -3'
Posted On 2014-01-05