Incidental Mutation 'IGL03164:Nlrp5'
| ID |
411557 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nlrp5
|
| Ensembl Gene |
ENSMUSG00000015721 |
| Gene Name |
NLR family, pyrin domain containing 5 |
| Synonyms |
Mater, Op1, Nalp5 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
IGL03164
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
23085314-23141347 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 23117798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 507
(Y507*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118638
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015866]
[ENSMUST00000086341]
[ENSMUST00000108441]
[ENSMUST00000133237]
[ENSMUST00000139661]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000015866
AA Change: Y507*
|
| SMART Domains |
Protein: ENSMUSP00000015866
Gene: ENSMUSG00000015721
AA Change: Y507*
| Domain | Start | End | E-Value | Type |
|---|
|
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 null
Transcript: ENSMUST00000086341
AA Change: Y491*
|
| SMART Domains |
Protein: ENSMUSP00000083524
Gene: ENSMUSG00000015721
AA Change: Y491*
| Domain | Start | End | E-Value | Type |
|---|
|
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 null
Transcript: ENSMUST00000108441
AA Change: Y507*
|
| SMART Domains |
Protein: ENSMUSP00000104080
Gene: ENSMUSG00000015721
AA Change: Y507*
| Domain | Start | End | E-Value | Type |
|---|
|
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 null
Transcript: ENSMUST00000133237
AA Change: Y507*
|
| SMART Domains |
Protein: ENSMUSP00000122007
Gene: ENSMUSG00000015721
AA Change: Y507*
| Domain | Start | End | E-Value | Type |
|---|
|
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 null
Transcript: ENSMUST00000139661
AA Change: Y507*
|
| SMART Domains |
Protein: ENSMUSP00000118638
Gene: ENSMUSG00000015721
AA Change: Y507*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NACHT
|
191 |
359 |
1.6e-44 |
PFAM |
|
Blast:LRR
|
691 |
718 |
8e-9 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207536
|
| Coding Region Coverage |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
A |
G |
3: 59,947,070 (GRCm39) |
D256G |
probably damaging |
Het |
| Abcb11 |
A |
T |
2: 69,122,343 (GRCm39) |
L380* |
probably null |
Het |
| Aco1 |
A |
T |
4: 40,167,116 (GRCm39) |
N110I |
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,866,918 (GRCm39) |
D126G |
probably damaging |
Het |
| Anks1b |
T |
G |
10: 89,878,554 (GRCm39) |
V121G |
probably damaging |
Het |
| Ap1s3 |
A |
G |
1: 79,602,887 (GRCm39) |
L40P |
probably damaging |
Het |
| Cd19 |
C |
A |
7: 126,012,681 (GRCm39) |
M237I |
possibly damaging |
Het |
| Chil6 |
T |
C |
3: 106,301,714 (GRCm39) |
T129A |
probably benign |
Het |
| Chtf18 |
A |
G |
17: 25,945,816 (GRCm39) |
M94T |
probably benign |
Het |
| Clstn2 |
G |
T |
9: 97,681,462 (GRCm39) |
D59E |
possibly damaging |
Het |
| Cplx3 |
T |
C |
9: 57,517,278 (GRCm39) |
T369A |
probably damaging |
Het |
| Ctnnbl1 |
A |
C |
2: 157,659,681 (GRCm39) |
M253L |
probably benign |
Het |
| Erg |
T |
C |
16: 95,210,730 (GRCm39) |
T41A |
possibly damaging |
Het |
| Gjd3 |
T |
A |
11: 102,691,547 (GRCm39) |
N152I |
possibly damaging |
Het |
| Ints1 |
A |
G |
5: 139,738,490 (GRCm39) |
L2084P |
probably damaging |
Het |
| Isoc1 |
C |
T |
18: 58,806,404 (GRCm39) |
S238L |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,415,980 (GRCm39) |
D1633E |
probably damaging |
Het |
| Krt76 |
T |
C |
15: 101,795,886 (GRCm39) |
D428G |
possibly damaging |
Het |
| Lrp2 |
G |
T |
2: 69,295,043 (GRCm39) |
T3425K |
probably damaging |
Het |
| Lta4h |
T |
C |
10: 93,306,659 (GRCm39) |
|
probably benign |
Het |
| Nap1l4 |
C |
T |
7: 143,091,953 (GRCm39) |
|
probably null |
Het |
| Nps |
T |
C |
7: 134,874,039 (GRCm39) |
S53P |
probably damaging |
Het |
| Oprk1 |
A |
T |
1: 5,669,087 (GRCm39) |
I178F |
probably damaging |
Het |
| Or2a12 |
C |
T |
6: 42,905,064 (GRCm39) |
R300* |
probably null |
Het |
| Or5p1 |
T |
C |
7: 107,916,901 (GRCm39) |
S267P |
probably damaging |
Het |
| Osgin2 |
G |
T |
4: 16,001,938 (GRCm39) |
S204R |
probably benign |
Het |
| Otop1 |
G |
T |
5: 38,445,306 (GRCm39) |
G155* |
probably null |
Het |
| Peli3 |
A |
G |
19: 4,986,144 (GRCm39) |
|
probably null |
Het |
| Pex7 |
T |
A |
10: 19,770,461 (GRCm39) |
|
probably benign |
Het |
| Pfkm |
T |
C |
15: 98,029,843 (GRCm39) |
L749P |
probably damaging |
Het |
| Pwp1 |
T |
A |
10: 85,714,367 (GRCm39) |
F103Y |
probably benign |
Het |
| Rhod |
T |
C |
19: 4,482,829 (GRCm39) |
K63E |
possibly damaging |
Het |
| Rtl1 |
T |
C |
12: 109,559,367 (GRCm39) |
E824G |
probably damaging |
Het |
| Sema4d |
A |
G |
13: 51,862,958 (GRCm39) |
F467L |
possibly damaging |
Het |
| Septin10 |
T |
C |
10: 59,016,921 (GRCm39) |
E201G |
probably damaging |
Het |
| Slc37a3 |
G |
A |
6: 39,322,237 (GRCm39) |
T389I |
probably benign |
Het |
| Slco2b1 |
C |
T |
7: 99,334,743 (GRCm39) |
A243T |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,235,911 (GRCm39) |
T187A |
probably benign |
Het |
| Supt20 |
T |
A |
3: 54,620,609 (GRCm39) |
D389E |
probably benign |
Het |
| Tchh |
A |
G |
3: 93,352,699 (GRCm39) |
D713G |
unknown |
Het |
| Trappc10 |
T |
C |
10: 78,056,076 (GRCm39) |
R209G |
probably damaging |
Het |
| Unc119 |
A |
G |
11: 78,239,002 (GRCm39) |
D176G |
probably damaging |
Het |
| Usb1 |
G |
A |
8: 96,060,112 (GRCm39) |
R21Q |
probably damaging |
Het |
|
| Other mutations in Nlrp5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation