Incidental Mutation 'IGL02325:Nlrp14'
ID288435
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nlrp14
Ensembl Gene ENSMUSG00000016626
Gene NameNLR family, pyrin domain containing 14
Synonyms4921520L01Rik, GC-LRR, Nalp-iota, Nalp14
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.184) question?
Stock #IGL02325
Quality Score
Status
Chromosome7
Chromosomal Location107166990-107198102 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 107182316 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 240 (D240G)
Ref Sequence ENSEMBL: ENSMUSP00000081819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084763] [ENSMUST00000142623]
Predicted Effect possibly damaging
Transcript: ENSMUST00000084763
AA Change: D240G

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000081819
Gene: ENSMUSG00000016626
AA Change: D240G

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
Coding Region Coverage
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acads A T 5: 115,111,954 I233N probably damaging Het
Agtpbp1 C T 13: 59,500,489 G393S probably benign Het
Ahctf1 T C 1: 179,776,015 D822G probably benign Het
Alpk1 T C 3: 127,679,903 N817S probably benign Het
Aoah G A 13: 20,917,125 E272K probably damaging Het
Aoc1 A G 6: 48,905,895 D235G possibly damaging Het
Ccdc186 G T 19: 56,813,356 Q110K probably benign Het
Celsr2 G T 3: 108,412,871 T875K probably damaging Het
Chdh T C 14: 30,032,825 V264A probably benign Het
Col15a1 A G 4: 47,289,364 T854A probably damaging Het
Cuedc1 A T 11: 88,170,173 E114V probably null Het
Ddx23 A T 15: 98,647,193 D677E possibly damaging Het
Ddx24 A G 12: 103,416,266 V640A probably damaging Het
Ddx25 T C 9: 35,554,508 probably benign Het
Ddx43 T C 9: 78,402,490 probably benign Het
Diaph1 T C 18: 37,853,600 K1111E probably damaging Het
Dnah9 T C 11: 65,834,217 D4370G probably damaging Het
Eef1e1 A T 13: 38,656,036 probably benign Het
Egfem1 T C 3: 29,151,917 I101T probably benign Het
Gpr142 G T 11: 114,806,121 L164F probably damaging Het
Gtf2h5 T A 17: 6,080,831 probably null Het
Hap1 T A 11: 100,354,364 probably null Het
Hemgn T G 4: 46,396,085 I384L probably benign Het
Ints3 A T 3: 90,404,042 H419Q probably damaging Het
Itgb2 T C 10: 77,547,192 L132P probably damaging Het
Krtap29-1 C T 11: 99,978,333 V241M probably damaging Het
Lrguk A G 6: 34,129,179 E713G probably benign Het
Lrrk2 G T 15: 91,726,308 probably null Het
Olfr1113 G T 2: 87,213,506 G205W probably damaging Het
Omt2b A T 9: 78,328,572 T60S possibly damaging Het
Pcdhb2 A G 18: 37,296,680 N569D possibly damaging Het
Plcd3 G A 11: 103,080,621 R66* probably null Het
Polr1a G A 6: 71,920,657 R212Q probably benign Het
Pou3f2 A T 4: 22,487,020 L371Q probably damaging Het
Rnf207 A T 4: 152,311,780 I509N probably damaging Het
Sema5a T G 15: 32,686,831 S1030A possibly damaging Het
Shank1 C A 7: 44,327,080 S534* probably null Het
Sntg2 T C 12: 30,195,543 T495A probably benign Het
Spem2 A T 11: 69,816,963 V392D probably benign Het
Srrm2 T A 17: 23,810,479 probably benign Het
Tbc1d8 A T 1: 39,394,240 F287Y probably damaging Het
Tgfbi A G 13: 56,631,230 D422G probably benign Het
Tppp G A 13: 74,021,176 A12T probably benign Het
Usp46 C T 5: 74,037,028 probably null Het
Zdhhc12 C T 2: 30,091,436 V205I probably damaging Het
Other mutations in Nlrp14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Nlrp14 APN 7 107192502 missense possibly damaging 0.91
IGL00337:Nlrp14 APN 7 107182101 missense possibly damaging 0.95
IGL00587:Nlrp14 APN 7 107181767 missense probably benign 0.10
IGL00654:Nlrp14 APN 7 107196144 missense probably damaging 1.00
IGL00712:Nlrp14 APN 7 107197241 missense probably damaging 1.00
IGL00765:Nlrp14 APN 7 107190139 missense possibly damaging 0.85
IGL01392:Nlrp14 APN 7 107197913 utr 3 prime probably benign
IGL02572:Nlrp14 APN 7 107182722 nonsense probably null
IGL03180:Nlrp14 APN 7 107182626 missense probably benign 0.01
IGL03186:Nlrp14 APN 7 107186670 missense probably damaging 0.98
PIT4403001:Nlrp14 UTSW 7 107184892 missense possibly damaging 0.65
R0025:Nlrp14 UTSW 7 107181258 splice site probably benign
R0025:Nlrp14 UTSW 7 107181258 splice site probably benign
R0148:Nlrp14 UTSW 7 107182721 missense probably benign
R0720:Nlrp14 UTSW 7 107182013 missense probably benign 0.19
R0842:Nlrp14 UTSW 7 107183135 missense probably benign 0.08
R1367:Nlrp14 UTSW 7 107182811 missense probably benign 0.01
R1472:Nlrp14 UTSW 7 107182703 missense probably benign 0.33
R1483:Nlrp14 UTSW 7 107190122 missense possibly damaging 0.84
R1615:Nlrp14 UTSW 7 107196163 missense probably benign 0.37
R1991:Nlrp14 UTSW 7 107196200 missense probably benign 0.21
R2171:Nlrp14 UTSW 7 107182502 missense probably damaging 0.99
R2287:Nlrp14 UTSW 7 107182662 missense probably damaging 1.00
R2394:Nlrp14 UTSW 7 107197824 missense probably benign 0.13
R3151:Nlrp14 UTSW 7 107182552 missense probably benign 0.32
R3732:Nlrp14 UTSW 7 107182367 missense probably benign 0.00
R3793:Nlrp14 UTSW 7 107182274 missense probably benign 0.00
R4368:Nlrp14 UTSW 7 107197805 missense probably benign 0.01
R4652:Nlrp14 UTSW 7 107181817 missense probably benign 0.05
R4772:Nlrp14 UTSW 7 107181186 missense probably benign 0.07
R4886:Nlrp14 UTSW 7 107182655 missense probably benign 0.02
R4896:Nlrp14 UTSW 7 107197179 frame shift probably null
R4910:Nlrp14 UTSW 7 107186583 missense possibly damaging 0.93
R5925:Nlrp14 UTSW 7 107186653 missense probably benign 0.35
R5997:Nlrp14 UTSW 7 107182496 missense probably benign 0.11
R6192:Nlrp14 UTSW 7 107182439 missense probably benign 0.00
R6230:Nlrp14 UTSW 7 107181817 missense probably benign 0.05
R6799:Nlrp14 UTSW 7 107196139 missense probably benign 0.37
R7116:Nlrp14 UTSW 7 107183048 missense possibly damaging 0.86
R7131:Nlrp14 UTSW 7 107184814 missense possibly damaging 0.47
R7387:Nlrp14 UTSW 7 107183107 missense probably damaging 0.98
R7472:Nlrp14 UTSW 7 107190044 missense probably benign 0.09
R7565:Nlrp14 UTSW 7 107181887 nonsense probably null
R7810:Nlrp14 UTSW 7 107192575 nonsense probably null
R8113:Nlrp14 UTSW 7 107192508 missense possibly damaging 0.95
X0019:Nlrp14 UTSW 7 107182927 missense probably benign 0.11
X0050:Nlrp14 UTSW 7 107196163 missense probably benign 0.37
Z1088:Nlrp14 UTSW 7 107186622 missense probably damaging 1.00
Z1176:Nlrp14 UTSW 7 107182714 missense probably benign 0.17
Posted On2015-04-16