Incidental Mutation 'R1887:Nlrp5'
ID 209642
Institutional Source Beutler Lab
Gene Symbol Nlrp5
Ensembl Gene ENSMUSG00000015721
Gene Name NLR family, pyrin domain containing 5
Synonyms Mater, Op1, Nalp5
MMRRC Submission 039908-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R1887 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 23085314-23141347 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 23116909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 211 (V211D)
Ref Sequence ENSEMBL: ENSMUSP00000104080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015866] [ENSMUST00000086341] [ENSMUST00000108441] [ENSMUST00000133237] [ENSMUST00000139661]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000015866
AA Change: V211D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000015866
Gene: ENSMUSG00000015721
AA Change: V211D

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 probably benign
Transcript: ENSMUST00000086341
AA Change: V195D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000083524
Gene: ENSMUSG00000015721
AA Change: V195D

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 damaging
Transcript: ENSMUST00000108441
AA Change: V211D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104080
Gene: ENSMUSG00000015721
AA Change: V211D

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 probably damaging
Transcript: ENSMUST00000133237
AA Change: V211D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122007
Gene: ENSMUSG00000015721
AA Change: V211D

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 damaging
Transcript: ENSMUST00000139661
AA Change: V211D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118638
Gene: ENSMUSG00000015721
AA Change: V211D

DomainStartEndE-ValueType
Pfam:NACHT 191 359 1.6e-44 PFAM
Blast:LRR 691 718 8e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207536
Coding Region Coverage
  • 1x: 97.1%
  • 3x: 96.1%
  • 10x: 93.2%
  • 20x: 86.9%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T C 6: 146,853,909 (GRCm39) I249M possibly damaging Het
1700102P08Rik T A 9: 108,270,809 (GRCm39) D124E possibly damaging Het
4930544D05Rik A G 11: 70,507,249 (GRCm39) E98G probably damaging Het
Abca8a A T 11: 109,980,768 (GRCm39) M90K probably damaging Het
Adamts9 A G 6: 92,849,769 (GRCm39) probably null Het
Adora3 A C 3: 105,812,152 (GRCm39) N13H possibly damaging Het
Aen A T 7: 78,557,073 (GRCm39) D307V probably damaging Het
Akr1c18 T A 13: 4,193,287 (GRCm39) N126I probably benign Het
Ankmy2 T A 12: 36,220,467 (GRCm39) M51K possibly damaging Het
Antkmt C A 17: 26,010,319 (GRCm39) probably null Het
Apc A G 18: 34,405,521 (GRCm39) E159G probably damaging Het
Arhgef28 G T 13: 98,282,081 (GRCm39) S4R probably damaging Het
Atg2b G A 12: 105,620,351 (GRCm39) T784M probably benign Het
Atp11a A G 8: 12,862,324 (GRCm39) N59D probably damaging Het
Cacna1h T C 17: 25,595,861 (GRCm39) Y1875C probably benign Het
Capza1 A T 3: 104,747,096 (GRCm39) probably null Het
Ccdc81 T C 7: 89,515,819 (GRCm39) E620G possibly damaging Het
Cdcp2 T C 4: 106,959,899 (GRCm39) F105L probably damaging Het
Cdhr18 A C 14: 13,828,607 (GRCm38) Y718D probably damaging Het
Cep152 A T 2: 125,462,225 (GRCm39) M58K probably benign Het
Comtd1 A G 14: 21,897,809 (GRCm39) L108P probably damaging Het
Cyp2b13 A G 7: 25,788,075 (GRCm39) Y401C probably damaging Het
Dap3 A G 3: 88,838,281 (GRCm39) L86P probably damaging Het
Dmxl1 G A 18: 49,992,202 (GRCm39) R316H probably benign Het
Eea1 T A 10: 95,854,073 (GRCm39) probably null Het
Eeig1 T A 2: 32,450,140 (GRCm39) N129K possibly damaging Het
Ezhip GTCATCATCATCATC GTCATCATCATCATCATC X: 5,994,645 (GRCm39) probably benign Het
Fam171a1 T C 2: 3,221,380 (GRCm39) V157A probably damaging Het
Fat3 T A 9: 15,878,357 (GRCm39) I3375F probably damaging Het
Fmod A G 1: 133,968,551 (GRCm39) E197G possibly damaging Het
Fsd1l T C 4: 53,696,984 (GRCm39) probably null Het
Gbp2b A G 3: 142,314,063 (GRCm39) T448A probably benign Het
Gpatch1 A T 7: 35,002,813 (GRCm39) N232K probably damaging Het
H2-Q4 A G 17: 35,599,113 (GRCm39) R128G possibly damaging Het
Hc T C 2: 34,924,623 (GRCm39) I435V probably benign Het
Hmgxb3 A G 18: 61,270,473 (GRCm39) probably null Het
Il23r A T 6: 67,450,785 (GRCm39) D231E possibly damaging Het
Irag1 A G 7: 110,523,740 (GRCm39) probably null Het
Kcnt2 T A 1: 140,511,985 (GRCm39) S1023T probably damaging Het
Klc2 A G 19: 5,158,640 (GRCm39) V618A probably benign Het
Lzts1 T C 8: 69,591,485 (GRCm39) D221G probably damaging Het
Mdn1 G C 4: 32,742,540 (GRCm39) R3926P probably damaging Het
Med24 A G 11: 98,609,642 (GRCm39) probably benign Het
Mga T A 2: 119,754,098 (GRCm39) L869Q probably damaging Het
Mob3a G A 10: 80,527,068 (GRCm39) Q86* probably null Het
Ncoa7 T C 10: 30,524,448 (GRCm39) N823S possibly damaging Het
Nr1h4 A T 10: 89,290,729 (GRCm39) M433K possibly damaging Het
Ofcc1 T C 13: 40,360,100 (GRCm39) S310G possibly damaging Het
Or4k49 G T 2: 111,495,099 (GRCm39) S176I probably damaging Het
Or5p57 T C 7: 107,665,985 (GRCm39) N7D probably benign Het
Or8k22 A G 2: 86,163,617 (GRCm39) F28L possibly damaging Het
Pdlim7 C T 13: 55,653,981 (GRCm39) G212D probably benign Het
Pdzd4 G A X: 72,839,052 (GRCm39) R419C probably damaging Het
Pik3cd T A 4: 149,737,091 (GRCm39) I902F probably damaging Het
Pip5kl1 A G 2: 32,468,517 (GRCm39) T198A probably damaging Het
Prkdc T C 16: 15,647,499 (GRCm39) V3641A probably benign Het
Rp1l1 T C 14: 64,265,839 (GRCm39) V475A probably benign Het
Rpl37 C T 15: 5,148,072 (GRCm39) T83M possibly damaging Het
Scml4 A G 10: 42,788,223 (GRCm39) Y51C probably damaging Het
Serinc5 A T 13: 92,838,214 (GRCm39) D340V possibly damaging Het
Stambpl1 A G 19: 34,213,808 (GRCm39) I346V probably benign Het
Syna G A 5: 134,588,106 (GRCm39) S281L probably benign Het
Tcstv2a G T 13: 120,725,604 (GRCm39) K89N probably damaging Het
Tet2 T C 3: 133,193,094 (GRCm39) T447A possibly damaging Het
Tgfbr3 A G 5: 107,284,874 (GRCm39) F592L probably damaging Het
Tmc7 A T 7: 118,160,310 (GRCm39) F176I possibly damaging Het
Trip4 T A 9: 65,782,163 (GRCm39) I190F probably null Het
Ttc6 T A 12: 57,720,044 (GRCm39) S872T probably benign Het
Ttc7b C T 12: 100,381,389 (GRCm39) probably null Het
Ubap2 C T 4: 41,199,872 (GRCm39) A752T probably benign Het
Ubr4 T C 4: 139,182,871 (GRCm39) L419P probably damaging Het
Ush2a C A 1: 188,132,177 (GRCm39) Q800K probably benign Het
Vmn2r115 T C 17: 23,565,007 (GRCm39) I298T possibly damaging Het
Vmn2r28 T C 7: 5,491,288 (GRCm39) T320A possibly damaging Het
Zfp804b T C 5: 6,820,376 (GRCm39) R860G 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
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
R9225:Nlrp5 UTSW 7 23,117,371 (GRCm39) missense probably benign 0.24
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'- AAGGCCCATGTGATTGCTAAG -3'
(R):5'- TCATATCATCATGTTGGAGGACAG -3'

Sequencing Primer
(F):5'- CCATGTGATTGCTAAGTTCGACAC -3'
(R):5'- GTCCATATCATCCAAGCCATCTATG -3'
Posted On 2014-06-30