Incidental Mutation 'IGL00089:Nlrp14'
ID 1455
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nlrp14
Ensembl Gene ENSMUSG00000016626
Gene Name NLR family, pyrin domain containing 14
Synonyms GC-LRR, 4921520L01Rik, Nalp14, Nalp-iota
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # IGL00089
Quality Score
Status
Chromosome 7
Chromosomal Location 106766197-106797309 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106791709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 139 (L139P)
Ref Sequence ENSEMBL: ENSMUSP00000145427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084763] [ENSMUST00000142623]
AlphaFold Q6B966
Predicted Effect possibly damaging
Transcript: ENSMUST00000084763
AA Change: L798P

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000081819
Gene: ENSMUSG00000016626
AA Change: L798P

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 possibly damaging
Transcript: ENSMUST00000142623
AA Change: L139P

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000145427
Gene: ENSMUSG00000016626
AA Change: L139P

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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik T C 5: 138,645,854 (GRCm39) S580P probably damaging Het
Abca12 T A 1: 71,342,700 (GRCm39) I927F possibly damaging Het
Abca8a A G 11: 109,941,765 (GRCm39) V1168A possibly damaging Het
Abcc1 T A 16: 14,278,847 (GRCm39) N1052K probably benign Het
Adamts13 C A 2: 26,895,373 (GRCm39) Q1155K probably benign Het
Adgre4 A T 17: 56,098,915 (GRCm39) probably benign Het
Ahsa2 T C 11: 23,446,837 (GRCm39) E42G probably damaging Het
Ankk1 T G 9: 49,333,200 (GRCm39) I95L probably benign Het
Anpep A T 7: 79,491,734 (GRCm39) L89Q probably damaging Het
Arl5a T C 2: 52,306,083 (GRCm39) N83S probably benign Het
Atp11b A G 3: 35,863,525 (GRCm39) probably null Het
Atp6v0a2 T C 5: 124,798,841 (GRCm39) F849L probably benign Het
BC106179 A G 16: 23,043,022 (GRCm39) probably benign Het
Bcl2a1c T C 9: 114,159,608 (GRCm39) *129Q probably null Het
C2cd5 T C 6: 142,963,671 (GRCm39) I888V probably null Het
Calb2 A T 8: 110,872,303 (GRCm39) L227Q probably damaging Het
Ccp110 G T 7: 118,321,647 (GRCm39) C434F possibly damaging Het
Cd209c A T 8: 3,990,339 (GRCm39) C160S probably damaging Het
Chmp1a A G 8: 123,935,758 (GRCm39) probably null Het
Col6a6 T A 9: 105,635,390 (GRCm39) probably null Het
Cyld T A 8: 89,432,085 (GRCm39) C28S probably benign Het
Dapk1 A T 13: 60,908,854 (GRCm39) I1156F probably benign Het
Dennd1a A T 2: 38,133,454 (GRCm39) Y16* probably null Het
Dennd3 T G 15: 73,438,982 (GRCm39) S1117A probably benign Het
Dgka A T 10: 128,568,955 (GRCm39) D203E probably damaging Het
Dhx15 G T 5: 52,324,117 (GRCm39) L392I probably damaging Het
Dnah10 A G 5: 124,823,680 (GRCm39) D567G probably benign Het
Eaf1 T A 14: 31,226,483 (GRCm39) probably null Het
Efnb2 T C 8: 8,710,589 (GRCm39) D9G probably benign Het
Fcrla A T 1: 170,755,067 (GRCm39) C15S probably benign Het
Flt3 T C 5: 147,291,686 (GRCm39) N588S probably damaging Het
Garre1 A T 7: 33,945,412 (GRCm39) probably benign Het
Gm10146 A T 10: 78,229,307 (GRCm39) noncoding transcript Het
Gnpat T C 8: 125,603,653 (GRCm39) probably benign Het
Golm2 T C 2: 121,741,274 (GRCm39) probably benign Het
Gpr39 A C 1: 125,800,468 (GRCm39) R406S probably benign Het
H2-Aa T C 17: 34,503,504 (GRCm39) H31R probably damaging Het
Helz2 G T 2: 180,871,495 (GRCm39) R2706S probably damaging Het
Hip1r T A 5: 124,127,798 (GRCm39) probably null Het
Hnf4g A G 3: 3,713,142 (GRCm39) T239A probably benign Het
Hps5 A T 7: 46,425,362 (GRCm39) I413N probably damaging Het
Hspg2 G A 4: 137,256,131 (GRCm39) G1413R probably damaging Het
Itgax T G 7: 127,734,498 (GRCm39) M352R probably damaging Het
Katna1 T A 10: 7,638,568 (GRCm39) M433K probably damaging Het
Kcna4 T G 2: 107,126,207 (GRCm39) S314A probably damaging Het
Kif13b C T 14: 64,907,142 (GRCm39) T42I possibly damaging Het
Krt78 G A 15: 101,855,945 (GRCm39) T622I probably benign Het
Krt86 T A 15: 101,374,396 (GRCm39) M263K possibly damaging Het
Lap3 A G 5: 45,663,511 (GRCm39) probably benign Het
Lepr A T 4: 101,672,232 (GRCm39) R1085S probably benign Het
Lmcd1 A G 6: 112,306,769 (GRCm39) I314V probably benign Het
Luc7l2 T C 6: 38,585,105 (GRCm39) probably benign Het
Mcm2 T A 6: 88,870,383 (GRCm39) M117L probably benign Het
Mdh2 T C 5: 135,815,138 (GRCm39) Y133H probably damaging Het
Minar1 C T 9: 89,483,853 (GRCm39) V515I probably benign Het
Mlkl T A 8: 112,046,060 (GRCm39) R317* probably null Het
Mrps34 T C 17: 25,114,344 (GRCm39) L68P probably damaging Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Myo18a A G 11: 77,738,764 (GRCm39) E1299G probably damaging Het
Nudcd2 A G 11: 40,627,413 (GRCm39) D86G probably damaging Het
Or10u4 T A 10: 129,801,673 (GRCm39) R293W probably damaging Het
Or4c107 T A 2: 88,789,110 (GRCm39) I100N probably damaging Het
Or4f62 A T 2: 111,986,412 (GRCm39) M39L probably benign Het
Patj T C 4: 98,353,343 (GRCm39) F629L probably damaging Het
Rad23a A G 8: 85,562,524 (GRCm39) F280L probably damaging Het
Ralgapa1 C A 12: 55,769,558 (GRCm39) G811V probably damaging Het
St18 A G 1: 6,872,796 (GRCm39) D177G probably benign Het
Sult1c2 A C 17: 54,140,147 (GRCm39) Y159* probably null Het
Surf6 T A 2: 26,783,081 (GRCm39) probably null Het
Susd6 T G 12: 80,916,841 (GRCm39) probably benign Het
Sypl2 G A 3: 108,133,742 (GRCm39) probably benign Het
Ubr5 A T 15: 37,984,280 (GRCm39) F2289Y probably damaging Het
Vcl T C 14: 21,037,071 (GRCm39) I223T probably benign Het
Vmn1r234 C T 17: 21,449,860 (GRCm39) T258I possibly damaging Het
Vmn2r58 T A 7: 41,513,854 (GRCm39) K263M possibly damaging Het
Vmo1 A T 11: 70,404,424 (GRCm39) N192K probably damaging Het
Wrnip1 A G 13: 33,000,312 (GRCm39) N440D probably damaging Het
Zc3h4 T C 7: 16,156,159 (GRCm39) Y264H unknown Het
Zfp639 T G 3: 32,573,902 (GRCm39) probably null Het
Zfp831 T C 2: 174,488,078 (GRCm39) Y918H possibly damaging Het
Other mutations in Nlrp14
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R1367:Nlrp14 UTSW 7 106,782,018 (GRCm39) missense probably benign 0.01
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
Posted On 2011-07-12