Incidental Mutation 'R2030:Nlrp12'
| ID |
221138 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp12
|
| Ensembl Gene |
ENSMUSG00000078817 |
| Gene Name |
NLR family, pyrin domain containing 12 |
| Synonyms |
Nalp12 |
| MMRRC Submission |
040037-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R2030 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
3267458-3298370 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3277049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 960
(H960L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104293
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108653]
|
| AlphaFold |
E9Q5R7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108653
AA Change: H960L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104293
Gene: ENSMUSG00000078817
AA Change: H960L
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
9 |
91 |
1.84e-24 |
SMART |
|
FISNA
|
128 |
201 |
1.71e-24 |
SMART |
|
Pfam:NACHT
|
211 |
381 |
4.2e-52 |
PFAM |
|
LRR
|
705 |
732 |
6.78e-3 |
SMART |
|
LRR
|
734 |
761 |
2.13e1 |
SMART |
|
LRR
|
762 |
789 |
3.49e-5 |
SMART |
|
LRR
|
791 |
818 |
7.02e0 |
SMART |
|
LRR
|
819 |
846 |
6.52e-5 |
SMART |
|
LRR
|
848 |
875 |
6.92e-1 |
SMART |
|
LRR
|
876 |
903 |
2.47e-5 |
SMART |
|
LRR
|
905 |
932 |
3.78e0 |
SMART |
|
LRR
|
933 |
960 |
1.63e-5 |
SMART |
|
LRR
|
962 |
989 |
4.9e0 |
SMART |
|
LRR
|
990 |
1017 |
1.79e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.2603 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (54/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a null allele have defects in dendritic and myeloid cell migration and a decreased susceptibility to type IV hypersensitivity reactions. Mice homozygous for a second null allele display increased susceptibility to induced colitis and to chemically-induced tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adtrp |
C |
T |
13: 41,981,735 (GRCm39) |
V13I |
probably damaging |
Het |
| Ak2 |
A |
G |
4: 128,902,013 (GRCm39) |
K229E |
probably benign |
Het |
| Atp13a4 |
A |
T |
16: 29,241,502 (GRCm39) |
V741D |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,197,697 (GRCm39) |
M896K |
probably benign |
Het |
| Ccser1 |
C |
T |
6: 61,288,547 (GRCm39) |
R237C |
probably benign |
Het |
| Cdk7 |
A |
G |
13: 100,859,182 (GRCm39) |
|
probably benign |
Het |
| CK137956 |
A |
G |
4: 127,845,180 (GRCm39) |
S188P |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dbndd2 |
A |
G |
2: 164,330,563 (GRCm39) |
D72G |
probably damaging |
Het |
| Disp3 |
A |
T |
4: 148,344,423 (GRCm39) |
I493N |
probably damaging |
Het |
| Dnaaf10 |
A |
T |
11: 17,179,832 (GRCm39) |
T278S |
probably benign |
Het |
| Epx |
T |
C |
11: 87,755,650 (GRCm39) |
D678G |
probably damaging |
Het |
| Fbxw5 |
G |
T |
2: 25,394,810 (GRCm39) |
V235L |
probably damaging |
Het |
| Fmo4 |
T |
A |
1: 162,621,741 (GRCm39) |
D490V |
probably damaging |
Het |
| Fuca2 |
A |
G |
10: 13,382,518 (GRCm39) |
Y268C |
probably damaging |
Het |
| Gm4787 |
C |
T |
12: 81,425,544 (GRCm39) |
V205I |
probably damaging |
Het |
| Gpat3 |
G |
A |
5: 101,045,687 (GRCm39) |
R437K |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,834,121 (GRCm39) |
S3109G |
probably damaging |
Het |
| Hr |
G |
A |
14: 70,808,888 (GRCm39) |
R1117H |
probably damaging |
Het |
| Htra4 |
T |
A |
8: 25,523,593 (GRCm39) |
D324V |
probably damaging |
Het |
| Kcnd3 |
A |
G |
3: 105,366,853 (GRCm39) |
Y241C |
probably damaging |
Het |
| Kcp |
G |
A |
6: 29,489,071 (GRCm39) |
L1072F |
probably damaging |
Het |
| Lrrc52 |
T |
C |
1: 167,294,028 (GRCm39) |
N86D |
probably benign |
Het |
| Mindy4 |
A |
G |
6: 55,188,247 (GRCm39) |
T26A |
probably damaging |
Het |
| Mre11a |
A |
T |
9: 14,707,101 (GRCm39) |
N117Y |
probably damaging |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,076 (GRCm39) |
S279T |
possibly damaging |
Het |
| Myh13 |
T |
G |
11: 67,241,064 (GRCm39) |
S814A |
probably benign |
Het |
| Ncapd2 |
A |
G |
6: 125,153,678 (GRCm39) |
V679A |
possibly damaging |
Het |
| Nipbl |
A |
T |
15: 8,379,771 (GRCm39) |
V1007D |
probably damaging |
Het |
| Or3a1c |
T |
A |
11: 74,046,769 (GRCm39) |
M263K |
possibly damaging |
Het |
| Or4a72 |
C |
T |
2: 89,405,558 (GRCm39) |
V171I |
probably benign |
Het |
| Or7e169 |
A |
G |
9: 19,757,709 (GRCm39) |
S69P |
probably benign |
Het |
| Pklr |
A |
G |
3: 89,050,545 (GRCm39) |
Y402C |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,859,334 (GRCm39) |
T1319A |
possibly damaging |
Het |
| Rif1 |
T |
A |
2: 51,982,358 (GRCm39) |
V541E |
probably damaging |
Het |
| Ryk |
T |
A |
9: 102,758,855 (GRCm39) |
I248N |
possibly damaging |
Het |
| Shisa2 |
A |
T |
14: 59,867,134 (GRCm39) |
I129F |
probably damaging |
Het |
| Snap25 |
T |
G |
2: 136,611,973 (GRCm39) |
|
probably benign |
Het |
| Snx31 |
G |
A |
15: 36,525,848 (GRCm39) |
P284S |
probably benign |
Het |
| Spata31g1 |
C |
T |
4: 42,974,131 (GRCm39) |
Q1155* |
probably null |
Het |
| Tas2r140 |
A |
G |
6: 40,469,154 (GRCm39) |
K328R |
possibly damaging |
Het |
| Tas2r140 |
T |
C |
6: 133,032,213 (GRCm39) |
T182A |
probably benign |
Het |
| Thumpd2 |
G |
A |
17: 81,372,387 (GRCm39) |
R35C |
probably damaging |
Het |
| Tnxb |
A |
T |
17: 34,937,443 (GRCm39) |
N3811Y |
probably damaging |
Het |
| Tpte |
A |
C |
8: 22,835,901 (GRCm39) |
N428T |
probably damaging |
Het |
| Trpm6 |
A |
G |
19: 18,831,629 (GRCm39) |
D1498G |
probably benign |
Het |
| Tsc2 |
C |
T |
17: 24,842,444 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,703,277 (GRCm39) |
|
probably benign |
Het |
| Wdr24 |
A |
G |
17: 26,045,017 (GRCm39) |
I251V |
probably benign |
Het |
| Zc3h6 |
T |
C |
2: 128,848,006 (GRCm39) |
Y278H |
probably damaging |
Het |
| Zfat |
A |
G |
15: 67,990,783 (GRCm39) |
|
probably null |
Het |
| Zfp442 |
A |
T |
2: 150,250,042 (GRCm39) |
V620E |
possibly damaging |
Het |
| Zfp788 |
A |
G |
7: 41,298,984 (GRCm39) |
H540R |
probably damaging |
Het |
|
| Other mutations in Nlrp12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00733:Nlrp12
|
APN |
7 |
3,289,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01301:Nlrp12
|
APN |
7 |
3,288,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01346:Nlrp12
|
APN |
7 |
3,289,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01482:Nlrp12
|
APN |
7 |
3,283,790 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL01534:Nlrp12
|
APN |
7 |
3,288,463 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02106:Nlrp12
|
APN |
7 |
3,282,574 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02159:Nlrp12
|
APN |
7 |
3,298,175 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02184:Nlrp12
|
APN |
7 |
3,289,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02221:Nlrp12
|
APN |
7 |
3,289,597 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02252:Nlrp12
|
APN |
7 |
3,293,980 (GRCm39) |
missense |
probably benign |
0.01 |
|
ANU18:Nlrp12
|
UTSW |
7 |
3,288,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4280001:Nlrp12
|
UTSW |
7 |
3,290,063 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0033:Nlrp12
|
UTSW |
7 |
3,289,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0033:Nlrp12
|
UTSW |
7 |
3,289,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0090:Nlrp12
|
UTSW |
7 |
3,288,664 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0446:Nlrp12
|
UTSW |
7 |
3,282,659 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0503:Nlrp12
|
UTSW |
7 |
3,298,007 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0538:Nlrp12
|
UTSW |
7 |
3,297,892 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1114:Nlrp12
|
UTSW |
7 |
3,277,166 (GRCm39) |
missense |
probably benign |
|
|
R1680:Nlrp12
|
UTSW |
7 |
3,289,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2096:Nlrp12
|
UTSW |
7 |
3,281,825 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2118:Nlrp12
|
UTSW |
7 |
3,290,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2266:Nlrp12
|
UTSW |
7 |
3,282,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3615:Nlrp12
|
UTSW |
7 |
3,289,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3616:Nlrp12
|
UTSW |
7 |
3,289,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4375:Nlrp12
|
UTSW |
7 |
3,289,576 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4376:Nlrp12
|
UTSW |
7 |
3,289,576 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4379:Nlrp12
|
UTSW |
7 |
3,288,554 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4837:Nlrp12
|
UTSW |
7 |
3,279,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4856:Nlrp12
|
UTSW |
7 |
3,289,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4970:Nlrp12
|
UTSW |
7 |
3,289,613 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5112:Nlrp12
|
UTSW |
7 |
3,289,613 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5147:Nlrp12
|
UTSW |
7 |
3,290,003 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5505:Nlrp12
|
UTSW |
7 |
3,298,015 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5636:Nlrp12
|
UTSW |
7 |
3,273,926 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5891:Nlrp12
|
UTSW |
7 |
3,267,933 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6039:Nlrp12
|
UTSW |
7 |
3,290,002 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6039:Nlrp12
|
UTSW |
7 |
3,290,002 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6365:Nlrp12
|
UTSW |
7 |
3,288,518 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6383:Nlrp12
|
UTSW |
7 |
3,282,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6796:Nlrp12
|
UTSW |
7 |
3,290,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6886:Nlrp12
|
UTSW |
7 |
3,289,313 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6957:Nlrp12
|
UTSW |
7 |
3,271,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6995:Nlrp12
|
UTSW |
7 |
3,288,481 (GRCm39) |
missense |
probably benign |
|
|
R7340:Nlrp12
|
UTSW |
7 |
3,281,755 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7346:Nlrp12
|
UTSW |
7 |
3,297,887 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7387:Nlrp12
|
UTSW |
7 |
3,289,831 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7414:Nlrp12
|
UTSW |
7 |
3,289,977 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7432:Nlrp12
|
UTSW |
7 |
3,271,213 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7729:Nlrp12
|
UTSW |
7 |
3,277,020 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7793:Nlrp12
|
UTSW |
7 |
3,294,030 (GRCm39) |
missense |
probably benign |
|
|
R8257:Nlrp12
|
UTSW |
7 |
3,297,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8357:Nlrp12
|
UTSW |
7 |
3,289,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8457:Nlrp12
|
UTSW |
7 |
3,289,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8558:Nlrp12
|
UTSW |
7 |
3,298,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8826:Nlrp12
|
UTSW |
7 |
3,289,621 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9480:Nlrp12
|
UTSW |
7 |
3,288,993 (GRCm39) |
nonsense |
probably null |
|
|
X0064:Nlrp12
|
UTSW |
7 |
3,290,016 (GRCm39) |
missense |
probably benign |
0.14 |
|
X0065:Nlrp12
|
UTSW |
7 |
3,289,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Nlrp12
|
UTSW |
7 |
3,271,211 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Nlrp12
|
UTSW |
7 |
3,271,211 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Nlrp12
|
UTSW |
7 |
3,271,211 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACCCTTGCCTTGGCCTTG -3'
(R):5'- AACAAAGTCAGCTTGGCCATC -3'
Sequencing Primer
(F):5'- AGCCATCAGTCCAATTGGTG -3'
(R):5'- AAGTCAGCTTGGCCATCCCTAC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation