Incidental Mutation 'R4484:Nlrp6'
ID 331534
Institutional Source Beutler Lab
Gene Symbol Nlrp6
Ensembl Gene ENSMUSG00000038745
Gene Name NLR family, pyrin domain containing 6
Synonyms Nalp6
MMRRC Submission 041740-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R4484 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 140500815-140509105 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140501694 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 87 (D87G)
Ref Sequence ENSEMBL: ENSMUSP00000139170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106045] [ENSMUST00000183845] [ENSMUST00000184560]
AlphaFold Q91WS2
Predicted Effect probably damaging
Transcript: ENSMUST00000106045
AA Change: D57G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101660
Gene: ENSMUSG00000038745
AA Change: D57G

DomainStartEndE-ValueType
PYRIN 15 96 5.44e-27 SMART
low complexity region 158 169 N/A INTRINSIC
Pfam:NACHT 194 363 8.6e-44 PFAM
coiled coil region 590 617 N/A INTRINSIC
low complexity region 675 697 N/A INTRINSIC
internal_repeat_1 715 763 9.43e-6 PROSPERO
internal_repeat_1 828 876 9.43e-6 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183761
Predicted Effect probably damaging
Transcript: ENSMUST00000183845
AA Change: D57G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139357
Gene: ENSMUSG00000038745
AA Change: D57G

DomainStartEndE-ValueType
PYRIN 15 96 5.44e-27 SMART
low complexity region 158 169 N/A INTRINSIC
Pfam:NACHT 194 363 5.5e-43 PFAM
coiled coil region 590 617 N/A INTRINSIC
low complexity region 680 694 N/A INTRINSIC
internal_repeat_1 702 750 1.26e-5 PROSPERO
internal_repeat_1 815 863 1.26e-5 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000184560
AA Change: D87G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139170
Gene: ENSMUSG00000038745
AA Change: D87G

DomainStartEndE-ValueType
PYRIN 45 126 5.44e-27 SMART
low complexity region 188 199 N/A INTRINSIC
Pfam:NACHT 224 393 8.2e-43 PFAM
coiled coil region 620 647 N/A INTRINSIC
low complexity region 710 724 N/A INTRINSIC
internal_repeat_1 732 780 1.55e-5 PROSPERO
internal_repeat_1 845 893 1.55e-5 PROSPERO
Meta Mutation Damage Score 0.2937 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (46/47)
MGI Phenotype FUNCTION: The protein encoded by this gene binds arginine-vasopressin and may be involved in the arginine-vasopressin-mediated regulation of renal salt-water balance. The encoded protein also mediates inflammatory responses in the colon to allow recovery from intestinal epithelial damage and protects against tumorigenesis and the development of colitis. Finally, this protein can increase activation of NF-kappa-B, activation of CASP1 through interaction with ASC, and cAMP accumulation. [provided by RefSeq, Feb 2013]
PHENOTYPE: Nullizygous mutations lead to altered colonic microbiota, increased susceptibility to induced colitis and/or inflammation-associated colon tumorigenesis. Homozygotes for a null allele show lower blood pressure and sex-specific changes in urine concentrating ability, cognition, and anxiety behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox4 T C 1: 58,301,730 (GRCm39) C1101R probably damaging Het
Atp8b5 T C 4: 43,357,016 (GRCm39) I588T probably damaging Het
Bahd1 C T 2: 118,746,887 (GRCm39) P169S probably damaging Het
Cd164l2 T A 4: 132,950,986 (GRCm39) V147E probably damaging Het
Celsr3 G A 9: 108,723,262 (GRCm39) probably null Het
Cr2 T C 1: 194,836,482 (GRCm39) T894A probably damaging Het
Crtc3 T C 7: 80,239,696 (GRCm39) D552G probably damaging Het
Cspg4b A T 13: 113,455,733 (GRCm39) N593I probably damaging Het
Cyp2c50 A G 19: 40,079,083 (GRCm39) E142G probably damaging Het
Dcstamp A G 15: 39,617,620 (GRCm39) I10V probably benign Het
Gm44501 T A 17: 40,887,507 (GRCm39) F8L unknown Het
Gpr179 T C 11: 97,226,537 (GRCm39) S1873G probably benign Het
Gprin2 C A 14: 33,916,754 (GRCm39) A339S probably benign Het
Gucy1b2 T A 14: 62,649,038 (GRCm39) I513F possibly damaging Het
Ighv5-6 T A 12: 113,589,208 (GRCm39) R91* probably null Het
Igtp G A 11: 58,097,824 (GRCm39) V332I possibly damaging Het
Itfg1 G A 8: 86,452,878 (GRCm39) P497S probably damaging Het
Junb T C 8: 85,704,517 (GRCm39) N181S possibly damaging Het
Lama3 T C 18: 12,614,145 (GRCm39) Y1305H probably benign Het
Lrrcc1 A T 3: 14,616,503 (GRCm39) N44I probably damaging Het
Med15 A T 16: 17,489,428 (GRCm39) probably benign Het
Mkks T C 2: 136,722,494 (GRCm39) E221G probably benign Het
Mtmr10 T C 7: 63,970,379 (GRCm39) V374A possibly damaging Het
Muc5b G T 7: 141,422,187 (GRCm39) C4441F possibly damaging Het
Nim1k G A 13: 120,173,710 (GRCm39) Q395* probably null Het
Ntng1 C A 3: 110,051,124 (GRCm39) probably benign Het
Padi1 G T 4: 140,544,581 (GRCm39) probably benign Het
Rxrg T C 1: 167,452,596 (GRCm39) S133P probably benign Het
Snx19 T C 9: 30,339,192 (GRCm39) I110T probably benign Het
Strap T C 6: 137,726,334 (GRCm39) probably benign Het
Tasor2 T C 13: 3,631,831 (GRCm39) D890G probably benign Het
Tgtp2 A T 11: 48,950,179 (GRCm39) M131K probably damaging Het
Tppp2 T C 14: 52,156,868 (GRCm39) F82L probably damaging Het
Ttc39c A G 18: 12,863,126 (GRCm39) K397E possibly damaging Het
Txlnb T TTA 10: 17,714,745 (GRCm39) probably null Het
Usp36 T A 11: 118,176,621 (GRCm39) R66W probably damaging Het
Vmn1r30 A T 6: 58,412,118 (GRCm39) V238E probably damaging Het
Vmn1r6 A G 6: 56,980,174 (GRCm39) I279V probably benign Het
Vmn2r61 G A 7: 41,950,120 (GRCm39) D847N probably benign Het
Zfp622 G A 15: 25,987,137 (GRCm39) probably null Het
Zfp963 T C 8: 70,197,135 (GRCm39) I36V probably benign Het
Zfy2 A G Y: 2,107,351 (GRCm39) Y428H possibly damaging Het
Other mutations in Nlrp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:Nlrp6 APN 7 140,503,037 (GRCm39) missense probably damaging 1.00
IGL01066:Nlrp6 APN 7 140,501,709 (GRCm39) missense possibly damaging 0.88
IGL01966:Nlrp6 APN 7 140,505,103 (GRCm39) missense probably damaging 1.00
IGL02625:Nlrp6 APN 7 140,503,413 (GRCm39) missense probably benign 0.00
IGL02792:Nlrp6 APN 7 140,502,348 (GRCm39) missense probably damaging 0.97
IGL02813:Nlrp6 APN 7 140,503,333 (GRCm39) missense possibly damaging 0.86
IGL03140:Nlrp6 APN 7 140,507,400 (GRCm39) missense probably benign 0.01
R0608:Nlrp6 UTSW 7 140,503,399 (GRCm39) nonsense probably null
R1404:Nlrp6 UTSW 7 140,504,026 (GRCm39) small deletion probably benign
R1404:Nlrp6 UTSW 7 140,504,026 (GRCm39) small deletion probably benign
R1472:Nlrp6 UTSW 7 140,503,408 (GRCm39) missense probably damaging 1.00
R1587:Nlrp6 UTSW 7 140,502,959 (GRCm39) missense probably damaging 1.00
R1843:Nlrp6 UTSW 7 140,503,006 (GRCm39) missense probably damaging 1.00
R1959:Nlrp6 UTSW 7 140,504,026 (GRCm39) small deletion probably benign
R2097:Nlrp6 UTSW 7 140,503,117 (GRCm39) missense probably damaging 1.00
R2118:Nlrp6 UTSW 7 140,506,357 (GRCm39) missense probably benign 0.11
R2119:Nlrp6 UTSW 7 140,506,357 (GRCm39) missense probably benign 0.11
R2120:Nlrp6 UTSW 7 140,506,357 (GRCm39) missense probably benign 0.11
R2121:Nlrp6 UTSW 7 140,506,357 (GRCm39) missense probably benign 0.11
R2290:Nlrp6 UTSW 7 140,502,076 (GRCm39) missense probably damaging 1.00
R3546:Nlrp6 UTSW 7 140,506,682 (GRCm39) missense probably benign 0.00
R3547:Nlrp6 UTSW 7 140,506,682 (GRCm39) missense probably benign 0.00
R3970:Nlrp6 UTSW 7 140,501,568 (GRCm39) missense probably damaging 1.00
R4483:Nlrp6 UTSW 7 140,501,694 (GRCm39) missense probably damaging 1.00
R4869:Nlrp6 UTSW 7 140,504,006 (GRCm39) missense probably damaging 1.00
R4962:Nlrp6 UTSW 7 140,503,497 (GRCm39) missense probably damaging 0.99
R5436:Nlrp6 UTSW 7 140,502,630 (GRCm39) nonsense probably null
R5442:Nlrp6 UTSW 7 140,502,103 (GRCm39) missense probably benign 0.01
R5924:Nlrp6 UTSW 7 140,503,403 (GRCm39) missense probably damaging 1.00
R5936:Nlrp6 UTSW 7 140,502,725 (GRCm39) nonsense probably null
R6124:Nlrp6 UTSW 7 140,503,160 (GRCm39) missense probably damaging 1.00
R6455:Nlrp6 UTSW 7 140,507,422 (GRCm39) missense possibly damaging 0.65
R6480:Nlrp6 UTSW 7 140,507,356 (GRCm39) missense possibly damaging 0.93
R6873:Nlrp6 UTSW 7 140,503,433 (GRCm39) missense probably benign 0.01
R7061:Nlrp6 UTSW 7 140,502,780 (GRCm39) missense probably benign 0.36
R7350:Nlrp6 UTSW 7 140,501,191 (GRCm39) start gained probably benign
R7532:Nlrp6 UTSW 7 140,505,097 (GRCm39) missense probably benign 0.00
R7752:Nlrp6 UTSW 7 140,507,353 (GRCm39) missense possibly damaging 0.92
R7901:Nlrp6 UTSW 7 140,507,353 (GRCm39) missense possibly damaging 0.92
R8098:Nlrp6 UTSW 7 140,503,168 (GRCm39) missense probably damaging 1.00
R8381:Nlrp6 UTSW 7 140,503,754 (GRCm39) missense possibly damaging 0.47
R8513:Nlrp6 UTSW 7 140,502,743 (GRCm39) missense possibly damaging 0.83
R9114:Nlrp6 UTSW 7 140,506,332 (GRCm39) missense probably damaging 1.00
V7732:Nlrp6 UTSW 7 140,506,561 (GRCm39) splice site probably benign
Z1176:Nlrp6 UTSW 7 140,502,634 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTCAGGTCGCATCAGTGATG -3'
(R):5'- AGTGGACAAAGTTGATCTTCCC -3'

Sequencing Primer
(F):5'- TCAGGTCGCATCAGTGATGATAACC -3'
(R):5'- GTTGATCTTCCCAAGGAGAGC -3'
Posted On 2015-07-21