Incidental Mutation 'R4072:Nlrp4c'
ID 316335
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 040854-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R4072 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 6048160-6108148 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6075709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 667 (K667E)
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: K667E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000046503
Gene: ENSMUSG00000034690
AA Change: K667E

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: K667E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000113824
Gene: ENSMUSG00000034690
AA Change: K667E

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: K667E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 98% (52/53)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,922,342 (GRCm39) probably null Het
Abcc5 A G 16: 20,152,445 (GRCm39) I1367T probably damaging Het
Acsm4 T A 7: 119,297,981 (GRCm39) L206H probably benign Het
Acss3 C T 10: 106,959,446 (GRCm39) probably benign Het
Adam34l A T 8: 44,079,387 (GRCm39) F279Y probably damaging Het
Ankar G T 1: 72,727,751 (GRCm39) D169E probably damaging Het
Arfgap3 C T 15: 83,187,330 (GRCm39) A510T probably damaging Het
Atp4a T C 7: 30,414,757 (GRCm39) I182T probably benign Het
Axl A G 7: 25,463,336 (GRCm39) probably benign Het
Baz1a A G 12: 54,988,345 (GRCm39) I268T probably benign Het
Baz2b A T 2: 59,742,917 (GRCm39) probably null Het
C2cd4d C A 3: 94,271,185 (GRCm39) C150* probably null Het
Crtac1 T C 19: 42,293,146 (GRCm39) Y321C probably damaging Het
Dnah11 T C 12: 118,070,227 (GRCm39) H1526R probably damaging Het
Dnah5 A T 15: 28,340,444 (GRCm39) R2284* probably null Het
Dnah9 T C 11: 65,975,730 (GRCm39) T1440A probably benign Het
Eps15l1 A G 8: 73,134,128 (GRCm39) I482T probably damaging Het
Eqtn A G 4: 94,808,199 (GRCm39) I201T possibly damaging Het
Ercc4 G A 16: 12,948,549 (GRCm39) V499I probably damaging Het
Eva1c T A 16: 90,701,019 (GRCm39) F331Y probably damaging Het
Fcho1 T C 8: 72,163,013 (GRCm39) H672R probably damaging Het
Galntl5 A T 5: 25,403,478 (GRCm39) K150* probably null Het
Gm19965 A G 1: 116,748,801 (GRCm39) T161A probably benign Het
Hydin G A 8: 111,231,888 (GRCm39) E1617K possibly damaging Het
Krtap31-1 T C 11: 99,799,058 (GRCm39) I87T possibly damaging Het
Lamp3 A G 16: 19,519,466 (GRCm39) L239P possibly damaging Het
Obox3 G T 7: 15,359,724 (GRCm39) T315N possibly damaging Het
Obscn A G 11: 58,888,009 (GRCm39) I7652T unknown Het
Or52e18 A T 7: 104,609,923 (GRCm39) N5K probably damaging Het
Or5b3 G A 19: 13,388,299 (GRCm39) R122H possibly damaging Het
Or8u8 T A 2: 86,011,991 (GRCm39) M155L probably benign Het
Pde7a G A 3: 19,311,017 (GRCm39) R70C probably damaging Het
Pidd1 A G 7: 141,020,739 (GRCm39) F453L probably damaging Het
Pms2 T C 5: 143,865,819 (GRCm39) I742T probably damaging Het
Pot1a T C 6: 25,752,356 (GRCm39) probably null Het
Pramel33 A T 5: 93,633,057 (GRCm39) M50K probably damaging Het
Rp1l1 A T 14: 64,265,581 (GRCm39) E389V probably damaging Het
Scnn1a A G 6: 125,315,870 (GRCm39) N407S probably damaging Het
Slc30a7 T C 3: 115,740,329 (GRCm39) D374G probably damaging Het
Slco2a1 T A 9: 102,945,201 (GRCm39) I192N probably damaging Het
Srp72 C A 5: 77,146,098 (GRCm39) T633K probably benign Het
Tm2d3 T A 7: 65,347,498 (GRCm39) L49* probably null Het
Tmprss11e T C 5: 86,863,502 (GRCm39) T188A possibly damaging Het
Tox T C 4: 6,842,396 (GRCm39) T45A probably damaging Het
Usp31 A G 7: 121,267,005 (GRCm39) probably null Het
Vwc2 T A 11: 11,066,446 (GRCm39) L178Q probably damaging Het
Zbbx C T 3: 75,012,978 (GRCm39) G151E probably damaging Het
Zbtb11 C T 16: 55,818,427 (GRCm39) T617I possibly 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
R1051:Nlrp4c UTSW 7 6,068,942 (GRCm39) missense probably benign 0.01
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
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'- CAGTGGAATGTATTTCTTTGTCCTC -3'
(R):5'- GAAGCCCTGCATACACTTTCATC -3'

Sequencing Primer
(F):5'- GTCCTCTGTTACAGGGAAAAGCTAC -3'
(R):5'- TTAGTGGTACCAAGCCAG -3'
Posted On 2015-05-15