Incidental Mutation 'R7116:Nlrp14'
| ID |
551774 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp14
|
| Ensembl Gene |
ENSMUSG00000016626 |
| Gene Name |
NLR family, pyrin domain containing 14 |
| Synonyms |
GC-LRR, 4921520L01Rik, Nalp14, Nalp-iota |
| MMRRC Submission |
045207-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.179)
|
| Stock # |
R7116 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
106766197-106797309 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106782255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 484
(D484G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081819
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084763]
[ENSMUST00000142623]
|
| AlphaFold |
Q6B966 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084763
AA Change: D484G
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000081819
Gene: ENSMUSG00000016626
AA Change: D484G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NACHT
|
81 |
249 |
1.6e-38 |
PFAM |
|
Blast:LRR
|
574 |
601 |
4e-6 |
BLAST |
|
LRR
|
629 |
656 |
1.67e0 |
SMART |
|
LRR
|
658 |
685 |
1.56e0 |
SMART |
|
LRR
|
686 |
713 |
2.05e-2 |
SMART |
|
LRR
|
715 |
742 |
7.9e-4 |
SMART |
|
LRR
|
743 |
770 |
1.25e-1 |
SMART |
|
LRR
|
772 |
799 |
4.68e-1 |
SMART |
|
LRR
|
800 |
827 |
9.08e-4 |
SMART |
|
LRR
|
829 |
856 |
1.59e1 |
SMART |
|
LRR
|
857 |
884 |
7.15e-1 |
SMART |
|
LRR
|
886 |
913 |
6.57e0 |
SMART |
|
LRR
|
914 |
941 |
3.36e1 |
SMART |
|
low complexity region
|
953 |
963 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142623
|
| SMART Domains |
Protein: ENSMUSP00000145427
Gene: ENSMUSG00000016626
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
27 |
54 |
9.1e-5 |
SMART |
|
LRR
|
56 |
83 |
3.4e-6 |
SMART |
|
LRR
|
84 |
111 |
5.4e-4 |
SMART |
|
LRR
|
113 |
140 |
2e-3 |
SMART |
|
LRR
|
141 |
168 |
4e-6 |
SMART |
|
LRR
|
170 |
197 |
6.7e-2 |
SMART |
|
LRR
|
198 |
225 |
3.1e-3 |
SMART |
|
LRR
|
227 |
254 |
2.8e-2 |
SMART |
|
LRR
|
255 |
282 |
1.4e-1 |
SMART |
|
low complexity region
|
294 |
304 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
A |
G |
12: 80,251,751 (GRCm39) |
S109P |
probably damaging |
Het |
| Afg3l1 |
T |
G |
8: 124,216,601 (GRCm39) |
L280R |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,369,943 (GRCm39) |
S129T |
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,622,869 (GRCm39) |
S328P |
probably damaging |
Het |
| Aox3 |
A |
T |
1: 58,192,689 (GRCm39) |
E554D |
probably benign |
Het |
| Bcl11a |
T |
C |
11: 24,113,839 (GRCm39) |
V394A |
probably damaging |
Het |
| Cass4 |
A |
G |
2: 172,269,889 (GRCm39) |
Y657C |
unknown |
Het |
| Ccdc88a |
C |
T |
11: 29,454,051 (GRCm39) |
A1738V |
probably benign |
Het |
| Cfap74 |
T |
C |
4: 155,539,518 (GRCm39) |
F948L |
unknown |
Het |
| Chgb |
A |
T |
2: 132,623,237 (GRCm39) |
|
probably benign |
Het |
| Coro1c |
C |
T |
5: 113,990,267 (GRCm39) |
W138* |
probably null |
Het |
| Dgkb |
A |
G |
12: 38,031,989 (GRCm39) |
Q17R |
probably benign |
Het |
| Esco2 |
A |
G |
14: 66,064,006 (GRCm39) |
Y393H |
probably damaging |
Het |
| Eya3 |
T |
A |
4: 132,422,110 (GRCm39) |
D228E |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,173,162 (GRCm39) |
D2517G |
probably damaging |
Het |
| Fry |
T |
A |
5: 150,319,334 (GRCm39) |
|
probably null |
Het |
| Gal3st2b |
A |
T |
1: 93,868,498 (GRCm39) |
Q243L |
possibly damaging |
Het |
| Gimap9 |
C |
T |
6: 48,654,989 (GRCm39) |
A192V |
probably benign |
Het |
| Glg1 |
T |
A |
8: 111,905,589 (GRCm39) |
Q564L |
probably benign |
Het |
| H2-Aa |
A |
T |
17: 34,502,601 (GRCm39) |
Y188* |
probably null |
Het |
| Hira |
T |
C |
16: 18,730,864 (GRCm39) |
Y188H |
probably damaging |
Het |
| Ighv8-8 |
C |
T |
12: 115,257,814 (GRCm39) |
D76N |
probably benign |
Het |
| Irf6 |
T |
C |
1: 192,849,905 (GRCm39) |
F276L |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,458,229 (GRCm39) |
C2000R |
probably damaging |
Het |
| Jakmip3 |
T |
C |
7: 138,621,979 (GRCm39) |
V293A |
possibly damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,707,614 (GRCm39) |
V132A |
probably benign |
Het |
| Kcnj1 |
A |
G |
9: 32,308,277 (GRCm39) |
T234A |
possibly damaging |
Het |
| Kpna3 |
T |
A |
14: 61,605,635 (GRCm39) |
N470I |
probably benign |
Het |
| Lamb2 |
T |
C |
9: 108,364,522 (GRCm39) |
F1121L |
probably damaging |
Het |
| Lingo1 |
T |
C |
9: 56,527,911 (GRCm39) |
D232G |
probably benign |
Het |
| Lpxn |
T |
A |
19: 12,788,622 (GRCm39) |
N70K |
probably benign |
Het |
| Ltbp4 |
T |
A |
7: 27,004,852 (GRCm39) |
H1657L |
probably damaging |
Het |
| Luzp2 |
C |
A |
7: 54,915,078 (GRCm39) |
F334L |
possibly damaging |
Het |
| Mgat5b |
A |
T |
11: 116,835,785 (GRCm39) |
S142C |
possibly damaging |
Het |
| Mroh7 |
G |
A |
4: 106,568,517 (GRCm39) |
T396I |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,417,487 (GRCm39) |
S3478P |
probably benign |
Het |
| Nfatc2 |
A |
T |
2: 168,349,269 (GRCm39) |
M626K |
probably benign |
Het |
| Npc1 |
T |
C |
18: 12,344,601 (GRCm39) |
Y423C |
probably damaging |
Het |
| Nrsn1 |
A |
G |
13: 25,437,388 (GRCm39) |
I180T |
probably damaging |
Het |
| Or11g25 |
A |
T |
14: 50,723,025 (GRCm39) |
I37F |
probably benign |
Het |
| Or51a8 |
T |
A |
7: 102,549,842 (GRCm39) |
N89K |
probably benign |
Het |
| Osbpl6 |
A |
T |
2: 76,426,225 (GRCm39) |
I935F |
probably benign |
Het |
| Otog |
T |
C |
7: 45,947,689 (GRCm39) |
F96L |
probably damaging |
Het |
| Pde1b |
T |
C |
15: 103,436,745 (GRCm39) |
L534P |
possibly damaging |
Het |
| Pdzd8 |
C |
T |
19: 59,288,125 (GRCm39) |
E1092K |
probably damaging |
Het |
| Pfkl |
T |
C |
10: 77,837,249 (GRCm39) |
H108R |
probably benign |
Het |
| Pkhd1l1 |
G |
A |
15: 44,421,372 (GRCm39) |
V3047I |
probably benign |
Het |
| Plag1 |
A |
T |
4: 3,904,812 (GRCm39) |
C126* |
probably null |
Het |
| Pphln1 |
T |
A |
15: 93,353,406 (GRCm39) |
S229T |
probably benign |
Het |
| Pramel5 |
C |
T |
4: 144,000,451 (GRCm39) |
D42N |
possibly damaging |
Het |
| Psd3 |
A |
G |
8: 68,166,390 (GRCm39) |
V915A |
probably benign |
Het |
| Ptdss1 |
T |
A |
13: 67,093,391 (GRCm39) |
I77N |
probably benign |
Het |
| Rsbn1 |
T |
A |
3: 103,821,892 (GRCm39) |
C3* |
probably null |
Het |
| Shank1 |
C |
T |
7: 43,976,585 (GRCm39) |
A561V |
unknown |
Het |
| Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
| Sv2c |
A |
T |
13: 96,113,152 (GRCm39) |
V599E |
probably damaging |
Het |
| Vmn2r37 |
T |
C |
7: 9,220,898 (GRCm39) |
T322A |
probably benign |
Het |
| Vmn2r60 |
T |
A |
7: 41,786,487 (GRCm39) |
M430K |
probably benign |
Het |
| Wipf3 |
T |
A |
6: 54,458,904 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Nlrp14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Nlrp14
|
APN |
7 |
106,791,709 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL00337:Nlrp14
|
APN |
7 |
106,781,308 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00587:Nlrp14
|
APN |
7 |
106,780,974 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL00654:Nlrp14
|
APN |
7 |
106,795,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00712:Nlrp14
|
APN |
7 |
106,796,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00765:Nlrp14
|
APN |
7 |
106,789,346 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01392:Nlrp14
|
APN |
7 |
106,797,120 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02325:Nlrp14
|
APN |
7 |
106,781,523 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02572:Nlrp14
|
APN |
7 |
106,781,929 (GRCm39) |
nonsense |
probably null |
|
|
IGL03180:Nlrp14
|
APN |
7 |
106,781,833 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03186:Nlrp14
|
APN |
7 |
106,785,877 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4403001:Nlrp14
|
UTSW |
7 |
106,784,099 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0025:Nlrp14
|
UTSW |
7 |
106,780,465 (GRCm39) |
splice site |
probably benign |
|
|
R0025:Nlrp14
|
UTSW |
7 |
106,780,465 (GRCm39) |
splice site |
probably benign |
|
|
R0148:Nlrp14
|
UTSW |
7 |
106,781,928 (GRCm39) |
missense |
probably benign |
|
|
R0720:Nlrp14
|
UTSW |
7 |
106,781,220 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0842:Nlrp14
|
UTSW |
7 |
106,782,342 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1367:Nlrp14
|
UTSW |
7 |
106,782,018 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1472:Nlrp14
|
UTSW |
7 |
106,781,910 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1483:Nlrp14
|
UTSW |
7 |
106,789,329 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1615:Nlrp14
|
UTSW |
7 |
106,795,370 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1991:Nlrp14
|
UTSW |
7 |
106,795,407 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2171:Nlrp14
|
UTSW |
7 |
106,781,709 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2287:Nlrp14
|
UTSW |
7 |
106,781,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2394:Nlrp14
|
UTSW |
7 |
106,797,031 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3151:Nlrp14
|
UTSW |
7 |
106,781,759 (GRCm39) |
missense |
probably benign |
0.32 |
|
R3732:Nlrp14
|
UTSW |
7 |
106,781,574 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3793:Nlrp14
|
UTSW |
7 |
106,781,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4368:Nlrp14
|
UTSW |
7 |
106,797,012 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4652:Nlrp14
|
UTSW |
7 |
106,781,024 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4772:Nlrp14
|
UTSW |
7 |
106,780,393 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4886:Nlrp14
|
UTSW |
7 |
106,781,862 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4896:Nlrp14
|
UTSW |
7 |
106,796,386 (GRCm39) |
frame shift |
probably null |
|
|
R4910:Nlrp14
|
UTSW |
7 |
106,785,790 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5925:Nlrp14
|
UTSW |
7 |
106,785,860 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5997:Nlrp14
|
UTSW |
7 |
106,781,703 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6192:Nlrp14
|
UTSW |
7 |
106,781,646 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6230:Nlrp14
|
UTSW |
7 |
106,781,024 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6799:Nlrp14
|
UTSW |
7 |
106,795,346 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7131:Nlrp14
|
UTSW |
7 |
106,784,021 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7387:Nlrp14
|
UTSW |
7 |
106,782,314 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7472:Nlrp14
|
UTSW |
7 |
106,789,251 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7565:Nlrp14
|
UTSW |
7 |
106,781,094 (GRCm39) |
nonsense |
probably null |
|
|
R7810:Nlrp14
|
UTSW |
7 |
106,791,782 (GRCm39) |
nonsense |
probably null |
|
|
R8113:Nlrp14
|
UTSW |
7 |
106,791,715 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8551:Nlrp14
|
UTSW |
7 |
106,782,359 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8985:Nlrp14
|
UTSW |
7 |
106,796,436 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9278:Nlrp14
|
UTSW |
7 |
106,797,049 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9436:Nlrp14
|
UTSW |
7 |
106,781,106 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9625:Nlrp14
|
UTSW |
7 |
106,782,169 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9715:Nlrp14
|
UTSW |
7 |
106,781,626 (GRCm39) |
missense |
probably benign |
|
|
R9744:Nlrp14
|
UTSW |
7 |
106,796,987 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0019:Nlrp14
|
UTSW |
7 |
106,782,134 (GRCm39) |
missense |
probably benign |
0.11 |
|
X0050:Nlrp14
|
UTSW |
7 |
106,795,370 (GRCm39) |
missense |
probably benign |
0.37 |
|
Z1088:Nlrp14
|
UTSW |
7 |
106,785,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Nlrp14
|
UTSW |
7 |
106,781,921 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACATTCATGACCCTCATTTGG -3'
(R):5'- AACACTTACCACATTTCAGCTGTG -3'
Sequencing Primer
(F):5'- TCATGACCCTCATTTGGAACAG -3'
(R):5'- ACCACATTTCAGCTGTGTCCAAC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation