Incidental Mutation 'R9225:Nlrp5'
ID 699774
Institutional Source Beutler Lab
Gene Symbol Nlrp5
Ensembl Gene ENSMUSG00000015721
Gene Name NLR family, pyrin domain containing 5
Synonyms Mater, Op1, Nalp5
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R9225 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 23085314-23141347 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23117371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 365 (V365A)
Ref Sequence ENSEMBL: ENSMUSP00000015866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015866] [ENSMUST00000086341] [ENSMUST00000108441] [ENSMUST00000133237] [ENSMUST00000139661]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000015866
AA Change: V365A

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000015866
Gene: ENSMUSG00000015721
AA Change: V365A

DomainStartEndE-ValueType
Pfam:NACHT 191 359 3.5e-45 PFAM
LRR 691 718 4.51e1 SMART
LRR 747 774 1.36e-2 SMART
LRR 776 803 6.79e0 SMART
LRR 804 831 4.3e0 SMART
LRR 833 860 1.42e0 SMART
LRR 861 888 1.2e-3 SMART
LRR 890 917 1.2e2 SMART
LRR 918 945 2.2e-2 SMART
LRR 947 974 1.56e2 SMART
LRR 975 1002 3.36e-7 SMART
LRR 1004 1031 6.04e1 SMART
LRR 1032 1059 1.99e1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000086341
AA Change: V349A

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000083524
Gene: ENSMUSG00000015721
AA Change: V349A

DomainStartEndE-ValueType
Pfam:NACHT 175 343 1.5e-44 PFAM
LRR 675 702 4.51e1 SMART
LRR 731 758 1.36e-2 SMART
LRR 760 787 6.79e0 SMART
LRR 788 815 4.3e0 SMART
LRR 817 844 1.42e0 SMART
LRR 845 872 1.2e-3 SMART
LRR 874 901 1.2e2 SMART
LRR 902 929 2.2e-2 SMART
LRR 931 958 1.56e2 SMART
LRR 959 986 3.36e-7 SMART
LRR 988 1015 6.04e1 SMART
LRR 1016 1043 1.99e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108441
AA Change: V365A

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000104080
Gene: ENSMUSG00000015721
AA Change: V365A

DomainStartEndE-ValueType
Pfam:NACHT 191 359 1.5e-44 PFAM
LRR 691 718 4.51e1 SMART
LRR 747 774 1.36e-2 SMART
LRR 776 803 6.79e0 SMART
LRR 804 831 4.3e0 SMART
LRR 833 860 1.42e0 SMART
LRR 861 888 1.2e-3 SMART
LRR 890 917 1.2e2 SMART
LRR 918 945 2.2e-2 SMART
LRR 947 974 1.56e2 SMART
LRR 975 1002 3.36e-7 SMART
LRR 1004 1033 1.28e2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000133237
AA Change: V365A

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000122007
Gene: ENSMUSG00000015721
AA Change: V365A

DomainStartEndE-ValueType
Pfam:NACHT 191 359 1.3e-44 PFAM
LRR 691 718 4.51e1 SMART
LRR 747 774 1.36e-2 SMART
LRR 776 803 6.79e0 SMART
LRR 804 831 4.3e0 SMART
LRR 833 860 1.42e0 SMART
LRR 861 888 1.2e-3 SMART
LRR 890 917 1.2e2 SMART
LRR 918 945 2.2e-2 SMART
LRR 947 974 1.56e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139661
AA Change: V365A

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000118638
Gene: ENSMUSG00000015721
AA Change: V365A

DomainStartEndE-ValueType
Pfam:NACHT 191 359 1.6e-44 PFAM
Blast:LRR 691 718 8e-9 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the NACHT, leucine-rich repeat, and pyrin domain containing family. Members of this family have a pyrin domain at the N-terminus, a central NACHT domain, and a C-terminal leucine-rich repeat domain. This gene encodes a maternal-effect factor that is essential for early embryonic development in the mouse. Homozygous null mutant females are sterile, and embryos die following the first cleavage. This gene is required for endoplasmic reticulum redistribution and calcium homeostasis in oocytes. In addition, ovulated oocytes mutant for this gene have abnormal mitochondrial localization and increased mitochondrial activity, which results in mitochondrial damage and early embryonic lethality. Pseudogenes of this gene have been found on chromosomes 7 and 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Females lacking this maternal effect gene are sterile. Preimplantation embryos do not develop past the 2-cell stage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik G T 5: 88,120,433 (GRCm39) V397L probably benign Het
Adam26b G T 8: 43,973,453 (GRCm39) Y516* probably null Het
Afap1 A G 5: 36,133,968 (GRCm39) K468E possibly damaging Het
Ank2 A G 3: 126,736,111 (GRCm39) S3258P unknown Het
Ap1g1 A G 8: 110,585,509 (GRCm39) K783E probably benign Het
Apbb1 A G 7: 105,218,063 (GRCm39) S20P Het
Atg13 T C 2: 91,519,128 (GRCm39) probably null Het
Atg16l2 A G 7: 100,951,188 (GRCm39) V16A probably benign Het
Atp11a G A 8: 12,867,005 (GRCm39) R144Q probably benign Het
Avpr1a A T 10: 122,285,466 (GRCm39) T253S probably benign Het
B4galnt3 T C 6: 120,195,928 (GRCm39) T300A probably damaging Het
Bag4 A G 8: 26,261,270 (GRCm39) V157A probably benign Het
Brsk2 A G 7: 141,547,039 (GRCm39) H494R probably damaging Het
Cacna2d2 G A 9: 107,403,403 (GRCm39) G955S probably benign Het
Ccdc42 A T 11: 68,479,061 (GRCm39) E83V probably damaging Het
Cep120 T C 18: 53,839,896 (GRCm39) Q788R probably benign Het
Cnbd1 A G 4: 18,907,010 (GRCm39) I188T probably benign Het
Col6a6 C T 9: 105,659,437 (GRCm39) E503K possibly damaging Het
Cpt1c A T 7: 44,610,213 (GRCm39) L661H probably damaging Het
Cyp2a22 T C 7: 26,637,202 (GRCm39) D194G possibly damaging Het
Cyp2c70 C A 19: 40,168,912 (GRCm39) R125L probably damaging Het
Cyp3a41a A T 5: 145,650,414 (GRCm39) D76E probably benign Het
Cyp4f13 A T 17: 33,144,319 (GRCm39) I458N probably damaging Het
Cyp4f13 T C 17: 33,148,175 (GRCm39) Q350R probably damaging Het
Ddx60 G A 8: 62,470,875 (GRCm39) V1456I probably benign Het
Dgkh T C 14: 78,962,507 (GRCm39) H8R probably damaging Het
Diaph3 A G 14: 87,244,760 (GRCm39) probably null Het
Dnah8 A C 17: 30,854,647 (GRCm39) D103A probably benign Het
Dock4 G A 12: 40,879,669 (GRCm39) R1551Q probably benign Het
Eps8 A T 6: 137,507,561 (GRCm39) S56T probably benign Het
Fam171b T A 2: 83,710,386 (GRCm39) L686Q probably damaging Het
Fndc3b A C 3: 27,510,680 (GRCm39) L814* probably null Het
Gcnt2 T A 13: 41,014,336 (GRCm39) L169Q probably damaging Het
Gm21103 T A 14: 17,484,877 (GRCm39) I56F possibly damaging Het
Gpc1 A T 1: 92,783,742 (GRCm39) K276N probably damaging Het
Hivep1 T A 13: 42,337,184 (GRCm39) V2421D probably damaging Het
Hoxb1 T C 11: 96,257,119 (GRCm39) L156P probably benign Het
Ifi208 A G 1: 173,518,294 (GRCm39) D467G possibly damaging Het
Klhl22 A G 16: 17,594,617 (GRCm39) M249V probably damaging Het
Kmt2b A G 7: 30,286,172 (GRCm39) V240A unknown Het
Lacc1 A T 14: 77,272,414 (GRCm39) Y127* probably null Het
Lgr4 C A 2: 109,842,485 (GRCm39) H823Q probably benign Het
Llgl1 T C 11: 60,600,889 (GRCm39) S662P probably damaging Het
Lrrc1 G A 9: 77,359,955 (GRCm39) T279I probably benign Het
Lrrc8e T A 8: 4,284,561 (GRCm39) V262E probably damaging Het
Magi1 G T 6: 93,762,511 (GRCm39) P292T possibly damaging Het
Mccc1 T A 3: 36,018,511 (GRCm39) I608F probably benign Het
Mroh8 T A 2: 157,107,010 (GRCm39) I220L probably damaging Het
Mtcl3 A T 10: 29,072,327 (GRCm39) K540* probably null Het
Mycn C A 12: 12,987,609 (GRCm39) D263Y probably damaging Het
Myrip A G 9: 120,293,850 (GRCm39) K782E probably damaging Het
Ncoa6 T A 2: 155,249,441 (GRCm39) I1288F possibly damaging Het
Nebl A G 2: 17,405,322 (GRCm39) I399T possibly damaging Het
Neurod1 A T 2: 79,284,731 (GRCm39) H217Q probably benign Het
Or1e1 C A 11: 73,244,595 (GRCm39) N5K probably damaging Het
Or2ag12 A G 7: 106,276,976 (GRCm39) V239A probably benign Het
Or5b100-ps1 G C 19: 12,994,371 (GRCm39) *261Y probably null Het
Or5b100-ps1 A G 19: 12,994,370 (GRCm39) *261W probably null Het
Otud7a A G 7: 63,407,469 (GRCm39) T591A possibly damaging Het
Pbx3 T C 2: 34,260,938 (GRCm39) probably benign Het
Pcdhb4 A T 18: 37,441,695 (GRCm39) Q335L possibly damaging Het
Plxnc1 C A 10: 94,629,061 (GRCm39) C1571F probably damaging Het
Pola2 G A 19: 6,000,492 (GRCm39) P330S probably benign Het
Ppm1l A T 3: 69,460,244 (GRCm39) N274Y probably benign Het
Ppp4r3b A G 11: 29,155,648 (GRCm39) D538G possibly damaging Het
Ptx4 C T 17: 25,341,696 (GRCm39) T57I probably benign Het
Rchy1 A T 5: 92,105,396 (GRCm39) C108* probably null Het
Rif1 A G 2: 52,001,862 (GRCm39) E130G probably benign Het
Rmdn1 A T 4: 19,601,385 (GRCm39) Y219F probably damaging Het
Rnf144a A G 12: 26,377,606 (GRCm39) C46R probably damaging Het
Rpl13a C A 7: 44,775,627 (GRCm39) G146V probably damaging Het
Rpl13a C A 7: 44,775,628 (GRCm39) G146W probably damaging Het
Rtn3 A T 19: 7,434,854 (GRCm39) N379K probably damaging Het
Sdc1 G T 12: 8,821,817 (GRCm39) R19L unknown Het
Shank1 A G 7: 43,983,470 (GRCm39) I651V unknown Het
Slamf6 T C 1: 171,764,270 (GRCm39) V221A probably benign Het
Sp9 C A 2: 73,103,839 (GRCm39) S131* probably null Het
Spen T C 4: 141,202,943 (GRCm39) T1895A possibly damaging Het
Taf6l CGCAGCCGCACCTG CG 19: 8,751,688 (GRCm39) probably benign Het
Thada G T 17: 84,749,172 (GRCm39) H600N possibly damaging Het
Trmt11 G T 10: 30,423,753 (GRCm39) P384Q probably damaging Het
Tsnaxip1 T C 8: 106,566,659 (GRCm39) L165P probably damaging Het
Ttc7 A G 17: 87,637,502 (GRCm39) Y419C probably damaging Het
Ugt1a6a T C 1: 88,066,560 (GRCm39) F122S probably benign Het
Vmn1r218 G A 13: 23,320,824 (GRCm39) C57Y probably benign Het
Vmn2r14 T C 5: 109,369,288 (GRCm39) N95S probably damaging Het
Vmn2r2 G T 3: 64,034,021 (GRCm39) H500Q probably benign Het
Vmn2r70 T A 7: 85,208,242 (GRCm39) Y745F probably damaging Het
Zfp189 C T 4: 49,530,193 (GRCm39) S432F probably benign Het
Zscan2 C T 7: 80,513,021 (GRCm39) A2V probably damaging Het
Other mutations in Nlrp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00478:Nlrp5 APN 7 23,141,213 (GRCm39) missense probably damaging 1.00
IGL01393:Nlrp5 APN 7 23,103,599 (GRCm39) missense probably null 0.04
IGL01505:Nlrp5 APN 7 23,117,159 (GRCm39) missense probably benign 0.15
IGL02010:Nlrp5 APN 7 23,116,797 (GRCm39) missense probably benign 0.04
IGL02223:Nlrp5 APN 7 23,129,447 (GRCm39) splice site probably benign
IGL02341:Nlrp5 APN 7 23,103,577 (GRCm39) missense probably benign 0.43
IGL02532:Nlrp5 APN 7 23,109,398 (GRCm39) missense possibly damaging 0.70
IGL02619:Nlrp5 APN 7 23,123,489 (GRCm39) critical splice donor site probably null
IGL02659:Nlrp5 APN 7 23,118,006 (GRCm39) missense probably damaging 1.00
IGL02828:Nlrp5 APN 7 23,120,885 (GRCm39) missense possibly damaging 0.81
IGL03018:Nlrp5 APN 7 23,117,172 (GRCm39) missense probably benign 0.06
IGL03164:Nlrp5 APN 7 23,117,798 (GRCm39) nonsense probably null
IGL03397:Nlrp5 APN 7 23,112,759 (GRCm39) missense probably damaging 1.00
IGL03404:Nlrp5 APN 7 23,129,459 (GRCm39) missense probably benign 0.00
R0310:Nlrp5 UTSW 7 23,129,582 (GRCm39) missense probably damaging 0.99
R0549:Nlrp5 UTSW 7 23,141,227 (GRCm39) missense probably damaging 1.00
R0573:Nlrp5 UTSW 7 23,117,056 (GRCm39) missense probably damaging 1.00
R0647:Nlrp5 UTSW 7 23,117,132 (GRCm39) missense probably damaging 1.00
R0675:Nlrp5 UTSW 7 23,116,842 (GRCm39) missense possibly damaging 0.53
R0826:Nlrp5 UTSW 7 23,117,133 (GRCm39) missense probably benign 0.13
R1511:Nlrp5 UTSW 7 23,112,772 (GRCm39) missense probably damaging 0.99
R1620:Nlrp5 UTSW 7 23,118,064 (GRCm39) missense probably damaging 1.00
R1858:Nlrp5 UTSW 7 23,117,586 (GRCm39) missense probably damaging 0.98
R1867:Nlrp5 UTSW 7 23,123,407 (GRCm39) missense possibly damaging 0.85
R1887:Nlrp5 UTSW 7 23,116,909 (GRCm39) missense probably damaging 1.00
R1899:Nlrp5 UTSW 7 23,104,222 (GRCm39) missense probably benign 0.00
R1901:Nlrp5 UTSW 7 23,123,335 (GRCm39) missense possibly damaging 0.94
R2032:Nlrp5 UTSW 7 23,120,937 (GRCm39) missense probably damaging 1.00
R3083:Nlrp5 UTSW 7 23,129,588 (GRCm39) missense probably benign 0.03
R3806:Nlrp5 UTSW 7 23,104,271 (GRCm39) missense probably benign
R3907:Nlrp5 UTSW 7 23,133,071 (GRCm39) missense possibly damaging 0.48
R4085:Nlrp5 UTSW 7 23,129,523 (GRCm39) missense probably damaging 0.97
R4135:Nlrp5 UTSW 7 23,117,823 (GRCm39) missense possibly damaging 0.92
R4609:Nlrp5 UTSW 7 23,117,173 (GRCm39) missense probably benign 0.01
R4649:Nlrp5 UTSW 7 23,117,603 (GRCm39) missense probably damaging 1.00
R4780:Nlrp5 UTSW 7 23,135,203 (GRCm39) missense probably damaging 1.00
R4793:Nlrp5 UTSW 7 23,117,055 (GRCm39) missense probably damaging 0.97
R5062:Nlrp5 UTSW 7 23,135,335 (GRCm39) nonsense probably null
R5224:Nlrp5 UTSW 7 23,117,401 (GRCm39) missense probably damaging 1.00
R5364:Nlrp5 UTSW 7 23,117,753 (GRCm39) nonsense probably null
R5426:Nlrp5 UTSW 7 23,117,626 (GRCm39) missense probably damaging 1.00
R5488:Nlrp5 UTSW 7 23,117,359 (GRCm39) missense probably benign 0.03
R5762:Nlrp5 UTSW 7 23,118,264 (GRCm39) missense possibly damaging 0.89
R6014:Nlrp5 UTSW 7 23,109,372 (GRCm39) missense probably benign 0.02
R6130:Nlrp5 UTSW 7 23,103,598 (GRCm39) missense probably benign 0.00
R6277:Nlrp5 UTSW 7 23,120,880 (GRCm39) missense probably damaging 1.00
R6509:Nlrp5 UTSW 7 23,117,341 (GRCm39) missense probably damaging 1.00
R6519:Nlrp5 UTSW 7 23,117,343 (GRCm39) missense probably benign 0.22
R7042:Nlrp5 UTSW 7 23,116,905 (GRCm39) missense possibly damaging 0.52
R7253:Nlrp5 UTSW 7 23,116,816 (GRCm39) missense possibly damaging 0.93
R7336:Nlrp5 UTSW 7 23,117,059 (GRCm39) missense probably damaging 0.98
R7371:Nlrp5 UTSW 7 23,117,848 (GRCm39) missense probably damaging 0.99
R7449:Nlrp5 UTSW 7 23,116,951 (GRCm39) missense probably benign 0.00
R7505:Nlrp5 UTSW 7 23,106,925 (GRCm39) missense probably benign 0.01
R7580:Nlrp5 UTSW 7 23,133,174 (GRCm39) missense probably damaging 1.00
R7588:Nlrp5 UTSW 7 23,107,576 (GRCm39) missense probably benign 0.21
R7793:Nlrp5 UTSW 7 23,123,343 (GRCm39) missense possibly damaging 0.87
R7795:Nlrp5 UTSW 7 23,118,219 (GRCm39) missense possibly damaging 0.78
R7893:Nlrp5 UTSW 7 23,117,590 (GRCm39) missense probably benign 0.12
R8071:Nlrp5 UTSW 7 23,117,869 (GRCm39) missense probably damaging 1.00
R8170:Nlrp5 UTSW 7 23,133,135 (GRCm39) missense probably benign 0.17
R8195:Nlrp5 UTSW 7 23,112,762 (GRCm39) missense probably benign 0.00
R8212:Nlrp5 UTSW 7 23,116,762 (GRCm39) missense probably benign 0.02
R8232:Nlrp5 UTSW 7 23,116,770 (GRCm39) missense probably benign 0.00
R8743:Nlrp5 UTSW 7 23,118,172 (GRCm39) missense probably benign 0.28
R8853:Nlrp5 UTSW 7 23,117,725 (GRCm39) missense possibly damaging 0.94
R9030:Nlrp5 UTSW 7 23,129,573 (GRCm39) missense possibly damaging 0.65
R9463:Nlrp5 UTSW 7 23,118,225 (GRCm39) missense probably benign 0.24
R9615:Nlrp5 UTSW 7 23,107,561 (GRCm39) missense probably benign 0.10
R9647:Nlrp5 UTSW 7 23,107,576 (GRCm39) missense probably benign 0.12
R9664:Nlrp5 UTSW 7 23,118,286 (GRCm39) missense probably benign 0.01
R9744:Nlrp5 UTSW 7 23,120,902 (GRCm39) missense possibly damaging 0.80
RF007:Nlrp5 UTSW 7 23,117,586 (GRCm39) missense probably benign 0.16
U24488:Nlrp5 UTSW 7 23,117,653 (GRCm39) missense possibly damaging 0.94
X0026:Nlrp5 UTSW 7 23,116,923 (GRCm39) nonsense probably null
X0062:Nlrp5 UTSW 7 23,117,415 (GRCm39) nonsense probably null
Z1088:Nlrp5 UTSW 7 23,117,011 (GRCm39) missense probably damaging 1.00
Z1088:Nlrp5 UTSW 7 23,103,592 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- ACTGGAAGGATGAACAGCCC -3'
(R):5'- TTTCAAGGTGAGCTGGTGAAAC -3'

Sequencing Primer
(F):5'- CTGATGTACAGCCTCCTGAG -3'
(R):5'- GTGAAACACCAACGTGGC -3'
Posted On 2022-02-07