Incidental Mutation 'R9625:Nlrp14'
| ID |
725093 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R9625 (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 106782169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 455
(I455M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081819
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084763]
[ENSMUST00000142623]
|
| AlphaFold |
Q6B966 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084763
AA Change: I455M
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000081819
Gene: ENSMUSG00000016626
AA Change: I455M
| 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: 99.7%
- 20x: 99.0%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432M17Rik |
A |
G |
3: 121,465,033 (GRCm39) |
E23G |
unknown |
Het |
| Abhd5 |
A |
G |
9: 122,208,606 (GRCm39) |
Y332C |
probably damaging |
Het |
| Adcyap1r1 |
A |
T |
6: 55,457,055 (GRCm39) |
E262V |
probably damaging |
Het |
| Adgre5 |
A |
G |
8: 84,450,658 (GRCm39) |
Y793H |
probably damaging |
Het |
| Arhgef33 |
A |
T |
17: 80,654,707 (GRCm39) |
Y78F |
possibly damaging |
Het |
| Asl |
G |
A |
5: 130,047,693 (GRCm39) |
A91V |
probably damaging |
Het |
| Cd40 |
A |
T |
2: 164,905,061 (GRCm39) |
I126F |
probably benign |
Het |
| Ceacam10 |
A |
G |
7: 24,476,705 (GRCm39) |
E2G |
probably damaging |
Het |
| Cfap46 |
C |
T |
7: 139,230,805 (GRCm39) |
R941H |
|
Het |
| Cntnap3 |
A |
T |
13: 65,006,579 (GRCm39) |
S78T |
probably damaging |
Het |
| Cntnap4 |
T |
C |
8: 113,602,181 (GRCm39) |
V1195A |
possibly damaging |
Het |
| Cthrc1 |
T |
C |
15: 38,947,874 (GRCm39) |
S198P |
probably damaging |
Het |
| Dcaf7 |
T |
G |
11: 105,942,794 (GRCm39) |
|
probably null |
Het |
| Dhx16 |
A |
G |
17: 36,193,413 (GRCm39) |
E252G |
probably benign |
Het |
| Efcab2 |
C |
T |
1: 178,302,505 (GRCm39) |
T83I |
possibly damaging |
Het |
| Efhc1 |
A |
G |
1: 21,049,738 (GRCm39) |
N533D |
probably benign |
Het |
| Emilin2 |
A |
G |
17: 71,581,112 (GRCm39) |
V538A |
probably benign |
Het |
| Fam171b |
A |
T |
2: 83,683,914 (GRCm39) |
T144S |
probably damaging |
Het |
| Fam98a |
A |
G |
17: 75,845,474 (GRCm39) |
F424S |
unknown |
Het |
| Gm3573 |
T |
C |
14: 42,011,605 (GRCm39) |
R42G |
possibly damaging |
Het |
| Gpr143 |
GTTTTTT |
GTTTTTTT |
X: 151,578,627 (GRCm39) |
|
probably null |
Het |
| H2-K2 |
G |
A |
17: 34,218,975 (GRCm39) |
P23S |
probably benign |
Het |
| Hormad2 |
G |
A |
11: 4,377,372 (GRCm39) |
P22L |
probably damaging |
Het |
| Hoxb1 |
C |
T |
11: 96,256,810 (GRCm39) |
A53V |
probably benign |
Het |
| Kalrn |
T |
A |
16: 33,849,197 (GRCm39) |
|
probably null |
Het |
| Kdm2a |
C |
T |
19: 4,393,141 (GRCm39) |
D405N |
|
Het |
| Kif1a |
C |
T |
1: 93,000,766 (GRCm39) |
E287K |
probably benign |
Het |
| Lrrk1 |
A |
T |
7: 65,909,666 (GRCm39) |
*2015K |
probably null |
Het |
| Ltbp1 |
G |
T |
17: 75,486,157 (GRCm39) |
G61C |
probably damaging |
Het |
| Mthfd2l |
A |
G |
5: 91,107,567 (GRCm39) |
H143R |
probably damaging |
Het |
| Myo1d |
C |
A |
11: 80,448,296 (GRCm39) |
G943V |
possibly damaging |
Het |
| Ncoa1 |
T |
A |
12: 4,345,643 (GRCm39) |
Q568L |
probably damaging |
Het |
| Ncoa3 |
G |
A |
2: 165,899,130 (GRCm39) |
S824N |
probably benign |
Het |
| Nfe2l3 |
A |
T |
6: 51,434,925 (GRCm39) |
D495V |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Npb |
T |
C |
11: 120,499,375 (GRCm39) |
L14P |
probably damaging |
Het |
| Or51f1 |
C |
T |
7: 102,505,636 (GRCm39) |
M284I |
probably benign |
Het |
| P2ry12 |
G |
A |
3: 59,125,496 (GRCm39) |
R60C |
possibly damaging |
Het |
| Pcdhb17 |
T |
A |
18: 37,619,419 (GRCm39) |
L403* |
probably null |
Het |
| Phb2 |
G |
A |
6: 124,690,974 (GRCm39) |
R44H |
probably damaging |
Het |
| Plekha5 |
A |
T |
6: 140,372,253 (GRCm39) |
T68S |
probably benign |
Het |
| Ptprg |
C |
T |
14: 12,152,027 (GRCm38) |
R447W |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,462,006 (GRCm39) |
Y1190H |
probably damaging |
Het |
| Ptpro |
G |
T |
6: 137,371,873 (GRCm39) |
C630F |
probably damaging |
Het |
| Rrp15 |
G |
T |
1: 186,453,718 (GRCm39) |
P243Q |
possibly damaging |
Het |
| Smurf1 |
A |
G |
5: 144,830,920 (GRCm39) |
F285S |
possibly damaging |
Het |
| Spata13 |
C |
T |
14: 60,944,349 (GRCm39) |
P581S |
probably benign |
Het |
| Tex44 |
T |
C |
1: 86,354,253 (GRCm39) |
I54T |
unknown |
Het |
| Tom1l2 |
A |
G |
11: 60,161,277 (GRCm39) |
V78A |
probably damaging |
Het |
| Vps11 |
A |
G |
9: 44,265,738 (GRCm39) |
W514R |
probably damaging |
Het |
| Wnk2 |
C |
A |
13: 49,254,445 (GRCm39) |
V357L |
probably benign |
Het |
| Zfp970 |
C |
T |
2: 177,167,790 (GRCm39) |
Q455* |
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 |
|
R7116:Nlrp14
|
UTSW |
7 |
106,782,255 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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 |
|
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'- CACTCACCTCCATGTTCAGG -3'
(R):5'- TTCGTCAACCCTCACGATAATC -3'
Sequencing Primer
(F):5'- ACAAGACTATCCCTCTGAAC -3'
(R):5'- CTTTTGGAAATACATCAGTGCCTGAG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation