Incidental Mutation 'R1367:Nlrp14'
ID 156072
Institutional Source Beutler Lab
Gene Symbol Nlrp14
Ensembl Gene ENSMUSG00000016626
Gene Name NLR family, pyrin domain containing 14
Synonyms GC-LRR, 4921520L01Rik, Nalp14, Nalp-iota
MMRRC Submission 039432-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R1367 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 106766197-106797309 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106782018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 405 (D405G)
Ref Sequence ENSEMBL: ENSMUSP00000081819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084763] [ENSMUST00000142623]
AlphaFold Q6B966
Predicted Effect probably benign
Transcript: ENSMUST00000084763
AA Change: D405G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000081819
Gene: ENSMUSG00000016626
AA Change: D405G

DomainStartEndE-ValueType
Pfam:NACHT 81 249 1.6e-38 PFAM
Blast:LRR 574 601 4e-6 BLAST
LRR 629 656 1.67e0 SMART
LRR 658 685 1.56e0 SMART
LRR 686 713 2.05e-2 SMART
LRR 715 742 7.9e-4 SMART
LRR 743 770 1.25e-1 SMART
LRR 772 799 4.68e-1 SMART
LRR 800 827 9.08e-4 SMART
LRR 829 856 1.59e1 SMART
LRR 857 884 7.15e-1 SMART
LRR 886 913 6.57e0 SMART
LRR 914 941 3.36e1 SMART
low complexity region 953 963 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142623
SMART Domains Protein: ENSMUSP00000145427
Gene: ENSMUSG00000016626

DomainStartEndE-ValueType
LRR 27 54 9.1e-5 SMART
LRR 56 83 3.4e-6 SMART
LRR 84 111 5.4e-4 SMART
LRR 113 140 2e-3 SMART
LRR 141 168 4e-6 SMART
LRR 170 197 6.7e-2 SMART
LRR 198 225 3.1e-3 SMART
LRR 227 254 2.8e-2 SMART
LRR 255 282 1.4e-1 SMART
low complexity region 294 304 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 94.2%
  • 20x: 86.6%
Validation Efficiency 98% (48/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T C 16: 14,261,250 (GRCm39) V676A probably damaging Het
Acvr1b T C 15: 101,091,819 (GRCm39) L33P possibly damaging Het
Adamts12 T G 15: 11,256,980 (GRCm39) probably benign Het
Ank1 T A 8: 23,601,819 (GRCm39) probably benign Het
Arhgef10 T A 8: 14,990,225 (GRCm39) D233E probably damaging Het
Cd209e T C 8: 3,899,084 (GRCm39) *209W probably null Het
Cebpz A G 17: 79,230,742 (GRCm39) V825A probably benign Het
Cep170 A G 1: 176,563,290 (GRCm39) F1575L probably damaging Het
Exoc2 A T 13: 31,066,256 (GRCm39) Y473* probably null Het
F3 A G 3: 121,523,023 (GRCm39) T78A probably damaging Het
Fanca G A 8: 124,031,020 (GRCm39) probably benign Het
Gga2 G A 7: 121,598,138 (GRCm39) R319* probably null Het
Gid8 A G 2: 180,355,025 (GRCm39) I10M probably benign Het
Glrb A G 3: 80,769,311 (GRCm39) W139R probably damaging Het
H2-M1 A G 17: 36,982,059 (GRCm39) S181P probably benign Het
Hectd3 G T 4: 116,854,367 (GRCm39) V310L probably null Het
Insyn1 G T 9: 58,406,263 (GRCm39) D58Y probably damaging Het
Kif17 C A 4: 138,005,305 (GRCm39) S290* probably null Het
Kif26b A G 1: 178,744,028 (GRCm39) N1375D probably damaging Het
Lgr4 C G 2: 109,821,480 (GRCm39) P121A probably damaging Het
Ly75 A G 2: 60,124,102 (GRCm39) probably null Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Nek3 T C 8: 22,650,377 (GRCm39) probably benign Het
Nin A T 12: 70,090,703 (GRCm39) L904Q probably damaging Het
Nuak1 C T 10: 84,228,192 (GRCm39) probably benign Het
Or5h23 T A 16: 58,906,706 (GRCm39) I47F probably benign Het
Plcg2 T A 8: 118,341,977 (GRCm39) W1113R probably damaging Het
Pms2 G A 5: 143,862,731 (GRCm39) V613M probably damaging Het
Prl3b1 G A 13: 27,427,848 (GRCm39) A53T probably benign Het
Pxk T G 14: 8,150,915 (GRCm38) probably null Het
Rasl10b G A 11: 83,308,665 (GRCm39) probably null Het
Rbm28 A T 6: 29,137,639 (GRCm39) I438N probably damaging Het
Rictor T C 15: 6,820,119 (GRCm39) probably benign Het
Slc41a1 A G 1: 131,771,746 (GRCm39) T387A probably benign Het
Slc44a2 T C 9: 21,254,322 (GRCm39) V228A probably benign Het
Slpi A G 2: 164,196,787 (GRCm39) probably benign Het
Tkfc A G 19: 10,570,838 (GRCm39) S481P probably benign Het
Tll2 G A 19: 41,108,667 (GRCm39) R328C probably damaging Het
Tns3 T C 11: 8,398,704 (GRCm39) H1216R probably benign Het
Ugt2b38 A T 5: 87,571,973 (GRCm39) S20T probably benign Het
Usp48 T A 4: 137,366,606 (GRCm39) D921E possibly damaging Het
Usp48 T A 4: 137,371,774 (GRCm39) S967T probably damaging Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Zdhhc23 A G 16: 43,794,513 (GRCm39) S54P probably benign Het
Other mutations in Nlrp14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Nlrp14 APN 7 106,791,709 (GRCm39) missense possibly damaging 0.91
IGL00337:Nlrp14 APN 7 106,781,308 (GRCm39) missense possibly damaging 0.95
IGL00587:Nlrp14 APN 7 106,780,974 (GRCm39) missense probably benign 0.10
IGL00654:Nlrp14 APN 7 106,795,351 (GRCm39) missense probably damaging 1.00
IGL00712:Nlrp14 APN 7 106,796,448 (GRCm39) missense probably damaging 1.00
IGL00765:Nlrp14 APN 7 106,789,346 (GRCm39) missense possibly damaging 0.85
IGL01392:Nlrp14 APN 7 106,797,120 (GRCm39) utr 3 prime probably benign
IGL02325:Nlrp14 APN 7 106,781,523 (GRCm39) missense possibly damaging 0.95
IGL02572:Nlrp14 APN 7 106,781,929 (GRCm39) nonsense probably null
IGL03180:Nlrp14 APN 7 106,781,833 (GRCm39) missense probably benign 0.01
IGL03186:Nlrp14 APN 7 106,785,877 (GRCm39) missense probably damaging 0.98
PIT4403001:Nlrp14 UTSW 7 106,784,099 (GRCm39) missense possibly damaging 0.65
R0025:Nlrp14 UTSW 7 106,780,465 (GRCm39) splice site probably benign
R0025:Nlrp14 UTSW 7 106,780,465 (GRCm39) splice site probably benign
R0148:Nlrp14 UTSW 7 106,781,928 (GRCm39) missense probably benign
R0720:Nlrp14 UTSW 7 106,781,220 (GRCm39) missense probably benign 0.19
R0842:Nlrp14 UTSW 7 106,782,342 (GRCm39) missense probably benign 0.08
R1472:Nlrp14 UTSW 7 106,781,910 (GRCm39) missense probably benign 0.33
R1483:Nlrp14 UTSW 7 106,789,329 (GRCm39) missense possibly damaging 0.84
R1615:Nlrp14 UTSW 7 106,795,370 (GRCm39) missense probably benign 0.37
R1991:Nlrp14 UTSW 7 106,795,407 (GRCm39) missense probably benign 0.21
R2171:Nlrp14 UTSW 7 106,781,709 (GRCm39) missense probably damaging 0.99
R2287:Nlrp14 UTSW 7 106,781,869 (GRCm39) missense probably damaging 1.00
R2394:Nlrp14 UTSW 7 106,797,031 (GRCm39) missense probably benign 0.13
R3151:Nlrp14 UTSW 7 106,781,759 (GRCm39) missense probably benign 0.32
R3732:Nlrp14 UTSW 7 106,781,574 (GRCm39) missense probably benign 0.00
R3793:Nlrp14 UTSW 7 106,781,481 (GRCm39) missense probably benign 0.00
R4368:Nlrp14 UTSW 7 106,797,012 (GRCm39) missense probably benign 0.01
R4652:Nlrp14 UTSW 7 106,781,024 (GRCm39) missense probably benign 0.05
R4772:Nlrp14 UTSW 7 106,780,393 (GRCm39) missense probably benign 0.07
R4886:Nlrp14 UTSW 7 106,781,862 (GRCm39) missense probably benign 0.02
R4896:Nlrp14 UTSW 7 106,796,386 (GRCm39) frame shift probably null
R4910:Nlrp14 UTSW 7 106,785,790 (GRCm39) missense possibly damaging 0.93
R5925:Nlrp14 UTSW 7 106,785,860 (GRCm39) missense probably benign 0.35
R5997:Nlrp14 UTSW 7 106,781,703 (GRCm39) missense probably benign 0.11
R6192:Nlrp14 UTSW 7 106,781,646 (GRCm39) missense probably benign 0.00
R6230:Nlrp14 UTSW 7 106,781,024 (GRCm39) missense probably benign 0.05
R6799:Nlrp14 UTSW 7 106,795,346 (GRCm39) missense probably benign 0.37
R7116:Nlrp14 UTSW 7 106,782,255 (GRCm39) missense possibly damaging 0.86
R7131:Nlrp14 UTSW 7 106,784,021 (GRCm39) missense possibly damaging 0.47
R7387:Nlrp14 UTSW 7 106,782,314 (GRCm39) missense probably damaging 0.98
R7472:Nlrp14 UTSW 7 106,789,251 (GRCm39) missense probably benign 0.09
R7565:Nlrp14 UTSW 7 106,781,094 (GRCm39) nonsense probably null
R7810:Nlrp14 UTSW 7 106,791,782 (GRCm39) nonsense probably null
R8113:Nlrp14 UTSW 7 106,791,715 (GRCm39) missense possibly damaging 0.95
R8551:Nlrp14 UTSW 7 106,782,359 (GRCm39) missense possibly damaging 0.58
R8985:Nlrp14 UTSW 7 106,796,436 (GRCm39) missense probably benign 0.03
R9278:Nlrp14 UTSW 7 106,797,049 (GRCm39) missense probably damaging 0.99
R9436:Nlrp14 UTSW 7 106,781,106 (GRCm39) missense probably benign 0.07
R9625:Nlrp14 UTSW 7 106,782,169 (GRCm39) missense probably benign 0.20
R9715:Nlrp14 UTSW 7 106,781,626 (GRCm39) missense probably benign
R9744:Nlrp14 UTSW 7 106,796,987 (GRCm39) missense probably damaging 0.99
X0019:Nlrp14 UTSW 7 106,782,134 (GRCm39) missense probably benign 0.11
X0050:Nlrp14 UTSW 7 106,795,370 (GRCm39) missense probably benign 0.37
Z1088:Nlrp14 UTSW 7 106,785,829 (GRCm39) missense probably damaging 1.00
Z1176:Nlrp14 UTSW 7 106,781,921 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- AGGCTGCTGTTGAAGGCATCTG -3'
(R):5'- ATACGCAACTGGGGTTCTTCGTC -3'

Sequencing Primer
(F):5'- GTGCTTTACCAGCAAAATCTCCG -3'
(R):5'- CAGTGGAGCAAGTCTTGAAATCTC -3'
Posted On 2014-02-11