Incidental Mutation 'R2163:Nlrp4a'
ID |
235283 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrp4a
|
Ensembl Gene |
ENSMUSG00000040601 |
Gene Name |
NLR family, pyrin domain containing 4A |
Synonyms |
Nalp-eta, E330028A19Rik, Nalp4a |
MMRRC Submission |
040166-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R2163 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
26134538-26175100 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26152822 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 631
(F631L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146044
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068767]
[ENSMUST00000119386]
[ENSMUST00000146907]
|
AlphaFold |
Q8BU40 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068767
AA Change: F631L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000066841 Gene: ENSMUSG00000040601 AA Change: F631L
Domain | Start | End | E-Value | Type |
PYRIN
|
6 |
89 |
6.48e-34 |
SMART |
Pfam:NACHT
|
148 |
317 |
4.9e-37 |
PFAM |
Blast:LRR
|
634 |
661 |
4e-6 |
BLAST |
low complexity region
|
666 |
677 |
N/A |
INTRINSIC |
LRR
|
689 |
716 |
5.96e0 |
SMART |
LRR
|
718 |
745 |
1.99e1 |
SMART |
LRR
|
746 |
772 |
1.02e0 |
SMART |
LRR
|
774 |
801 |
4.66e1 |
SMART |
LRR
|
802 |
829 |
1.18e-2 |
SMART |
LRR
|
831 |
858 |
2.2e-2 |
SMART |
LRR
|
859 |
886 |
5.59e-4 |
SMART |
LRR
|
888 |
915 |
9.41e0 |
SMART |
LRR
|
916 |
943 |
8.94e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119386
AA Change: F631L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000112441 Gene: ENSMUSG00000040601 AA Change: F631L
Domain | Start | End | E-Value | Type |
PYRIN
|
6 |
89 |
6.48e-34 |
SMART |
Pfam:NACHT
|
148 |
317 |
1.3e-37 |
PFAM |
Blast:LRR
|
634 |
661 |
4e-6 |
BLAST |
low complexity region
|
666 |
677 |
N/A |
INTRINSIC |
LRR
|
689 |
716 |
5.96e0 |
SMART |
LRR
|
718 |
745 |
1.99e1 |
SMART |
LRR
|
746 |
772 |
1.02e0 |
SMART |
LRR
|
774 |
801 |
4.66e1 |
SMART |
LRR
|
802 |
829 |
1.18e-2 |
SMART |
LRR
|
831 |
858 |
2.2e-2 |
SMART |
LRR
|
859 |
886 |
5.59e-4 |
SMART |
LRR
|
888 |
915 |
9.41e0 |
SMART |
LRR
|
916 |
943 |
8.94e1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146534
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146907
AA Change: F631L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
97% (76/78) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930578I07Rik |
C |
A |
14: 67,175,997 (GRCm39) |
T64K |
unknown |
Het |
Ablim2 |
T |
C |
5: 35,959,697 (GRCm39) |
|
probably benign |
Het |
Acp4 |
T |
C |
7: 43,905,400 (GRCm39) |
D107G |
probably damaging |
Het |
Adamts2 |
T |
A |
11: 50,679,632 (GRCm39) |
C871S |
probably benign |
Het |
Adamts3 |
A |
G |
5: 89,856,577 (GRCm39) |
V332A |
probably damaging |
Het |
Alkal1 |
C |
T |
1: 6,459,736 (GRCm39) |
T104M |
probably benign |
Het |
Astn1 |
A |
G |
1: 158,329,720 (GRCm39) |
S192G |
probably damaging |
Het |
Axdnd1 |
A |
C |
1: 156,219,573 (GRCm39) |
V337G |
probably damaging |
Het |
Baiap2l2 |
T |
C |
15: 79,143,395 (GRCm39) |
D481G |
possibly damaging |
Het |
Cacna2d1 |
C |
T |
5: 16,567,317 (GRCm39) |
T964I |
probably damaging |
Het |
Carf |
T |
C |
1: 60,186,645 (GRCm39) |
|
probably benign |
Het |
Catsper2 |
T |
C |
2: 121,230,656 (GRCm39) |
D295G |
probably damaging |
Het |
Cdh1 |
A |
G |
8: 107,375,713 (GRCm39) |
T84A |
probably benign |
Het |
Chd8 |
T |
A |
14: 52,436,275 (GRCm39) |
H2508L |
possibly damaging |
Het |
Chl1 |
A |
T |
6: 103,688,192 (GRCm39) |
T284S |
probably damaging |
Het |
Chtop |
A |
T |
3: 90,409,518 (GRCm39) |
M125K |
probably benign |
Het |
Col14a1 |
T |
A |
15: 55,308,041 (GRCm39) |
|
probably benign |
Het |
Cplane1 |
T |
A |
15: 8,232,735 (GRCm39) |
|
probably null |
Het |
Cyp2b10 |
A |
T |
7: 25,624,810 (GRCm39) |
|
probably benign |
Het |
Cyp2c70 |
G |
A |
19: 40,149,163 (GRCm39) |
H328Y |
possibly damaging |
Het |
Dcbld1 |
A |
G |
10: 52,162,452 (GRCm39) |
T77A |
probably damaging |
Het |
Dnah6 |
A |
T |
6: 73,066,729 (GRCm39) |
|
probably null |
Het |
Efhd1 |
A |
T |
1: 87,217,195 (GRCm39) |
D104V |
probably damaging |
Het |
Eif5b |
A |
T |
1: 38,087,875 (GRCm39) |
D957V |
probably benign |
Het |
Eps15 |
T |
A |
4: 109,227,866 (GRCm39) |
S549R |
probably damaging |
Het |
Fbxo3 |
C |
A |
2: 103,885,330 (GRCm39) |
H400N |
probably benign |
Het |
Fcer1a |
A |
G |
1: 173,050,264 (GRCm39) |
V86A |
probably damaging |
Het |
Fh1 |
A |
G |
1: 175,442,406 (GRCm39) |
M148T |
possibly damaging |
Het |
Foxc1 |
C |
A |
13: 31,992,586 (GRCm39) |
H466N |
unknown |
Het |
Gadl1 |
T |
A |
9: 115,778,626 (GRCm39) |
I180N |
possibly damaging |
Het |
Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
Gm21718 |
T |
C |
14: 51,555,223 (GRCm39) |
|
noncoding transcript |
Het |
Hivep2 |
T |
A |
10: 14,003,970 (GRCm39) |
Y189* |
probably null |
Het |
Hoxd13 |
T |
A |
2: 74,499,413 (GRCm39) |
S254T |
possibly damaging |
Het |
Hspd1 |
A |
G |
1: 55,117,697 (GRCm39) |
|
probably benign |
Het |
Il1r1 |
A |
G |
1: 40,334,023 (GRCm39) |
M198V |
probably benign |
Het |
Katnal1 |
T |
A |
5: 148,825,746 (GRCm39) |
I362F |
probably damaging |
Het |
Muc2 |
CGTG |
CGTGTG |
7: 141,699,185 (GRCm38) |
|
probably null |
Het |
Mybpc1 |
T |
C |
10: 88,376,804 (GRCm39) |
|
probably benign |
Het |
Mycbp2 |
A |
G |
14: 103,407,291 (GRCm39) |
|
probably null |
Het |
Nell2 |
G |
T |
15: 95,327,859 (GRCm39) |
N301K |
probably damaging |
Het |
Nenf |
T |
A |
1: 191,042,132 (GRCm39) |
D108V |
probably damaging |
Het |
Nfkbiz |
T |
C |
16: 55,638,581 (GRCm39) |
N293S |
probably benign |
Het |
Nipbl |
T |
C |
15: 8,366,403 (GRCm39) |
K1229E |
probably damaging |
Het |
Nrp1 |
T |
A |
8: 129,224,352 (GRCm39) |
V705E |
probably damaging |
Het |
Nsf |
G |
C |
11: 103,754,159 (GRCm39) |
A459G |
possibly damaging |
Het |
Or1af1 |
A |
G |
2: 37,110,089 (GRCm39) |
E196G |
probably damaging |
Het |
Or5w10 |
A |
G |
2: 87,375,238 (GRCm39) |
S217P |
probably damaging |
Het |
Pdia4 |
C |
T |
6: 47,775,341 (GRCm39) |
D490N |
possibly damaging |
Het |
Pinlyp |
T |
A |
7: 24,241,226 (GRCm39) |
Y192F |
probably benign |
Het |
Pkd2 |
T |
C |
5: 104,603,543 (GRCm39) |
|
probably benign |
Het |
Ppara |
A |
G |
15: 85,685,247 (GRCm39) |
K399E |
probably benign |
Het |
Ppp4r2 |
C |
A |
6: 100,842,047 (GRCm39) |
N169K |
probably damaging |
Het |
Prom1 |
T |
A |
5: 44,171,505 (GRCm39) |
E632V |
possibly damaging |
Het |
Rpap3 |
T |
A |
15: 97,578,229 (GRCm39) |
Y562F |
possibly damaging |
Het |
Rsph14 |
T |
A |
10: 74,793,611 (GRCm39) |
K263N |
probably damaging |
Het |
Sanbr |
T |
C |
11: 23,526,826 (GRCm39) |
|
probably benign |
Het |
Scn11a |
T |
G |
9: 119,584,091 (GRCm39) |
D1508A |
probably damaging |
Het |
Scn7a |
T |
C |
2: 66,506,300 (GRCm39) |
T1530A |
probably damaging |
Het |
Sec14l1 |
T |
A |
11: 117,034,108 (GRCm39) |
|
probably null |
Het |
Slc4a4 |
A |
G |
5: 89,362,435 (GRCm39) |
I840V |
probably damaging |
Het |
Slco1a8 |
G |
A |
6: 141,926,664 (GRCm39) |
T554I |
possibly damaging |
Het |
Slco1c1 |
T |
A |
6: 141,505,478 (GRCm39) |
V419D |
probably benign |
Het |
Sltm |
T |
A |
9: 70,498,964 (GRCm39) |
F1013I |
probably damaging |
Het |
Spam1 |
A |
G |
6: 24,796,846 (GRCm39) |
K266E |
probably benign |
Het |
Syt15 |
A |
G |
14: 33,948,073 (GRCm39) |
E306G |
probably benign |
Het |
Tap1 |
A |
T |
17: 34,408,447 (GRCm39) |
|
probably null |
Het |
Tbc1d16 |
G |
C |
11: 119,045,904 (GRCm39) |
|
probably benign |
Het |
Tex47 |
T |
C |
5: 7,355,022 (GRCm39) |
Y68H |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,642,845 (GRCm39) |
T13264A |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ubxn2a |
A |
T |
12: 4,935,757 (GRCm39) |
F131Y |
probably damaging |
Het |
Usp40 |
T |
C |
1: 87,923,580 (GRCm39) |
|
probably benign |
Het |
Vmn1r170 |
T |
C |
7: 23,306,462 (GRCm39) |
L288P |
probably damaging |
Het |
Vmn1r175 |
A |
G |
7: 23,508,352 (GRCm39) |
Y92H |
probably benign |
Het |
Wdpcp |
G |
T |
11: 21,835,015 (GRCm39) |
E673* |
probably null |
Het |
Zfr |
T |
A |
15: 12,162,309 (GRCm39) |
L820I |
probably damaging |
Het |
|
Other mutations in Nlrp4a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00487:Nlrp4a
|
APN |
7 |
26,149,410 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL00972:Nlrp4a
|
APN |
7 |
26,156,473 (GRCm39) |
missense |
probably benign |
|
IGL01081:Nlrp4a
|
APN |
7 |
26,149,254 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01788:Nlrp4a
|
APN |
7 |
26,153,492 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02001:Nlrp4a
|
APN |
7 |
26,149,394 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02070:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02175:Nlrp4a
|
APN |
7 |
26,174,522 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02193:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02193:Nlrp4a
|
APN |
7 |
26,159,117 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02197:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02200:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02202:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02207:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02237:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02240:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02658:Nlrp4a
|
APN |
7 |
26,149,138 (GRCm39) |
missense |
probably benign |
0.43 |
IGL02743:Nlrp4a
|
APN |
7 |
26,159,240 (GRCm39) |
splice site |
probably benign |
|
IGL02960:Nlrp4a
|
APN |
7 |
26,149,155 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03064:Nlrp4a
|
APN |
7 |
26,148,934 (GRCm39) |
missense |
probably benign |
0.23 |
IGL03276:Nlrp4a
|
APN |
7 |
26,163,615 (GRCm39) |
missense |
probably damaging |
1.00 |
BB002:Nlrp4a
|
UTSW |
7 |
26,150,011 (GRCm39) |
missense |
probably benign |
0.10 |
BB012:Nlrp4a
|
UTSW |
7 |
26,150,011 (GRCm39) |
missense |
probably benign |
0.10 |
D3080:Nlrp4a
|
UTSW |
7 |
26,143,766 (GRCm39) |
missense |
probably benign |
0.22 |
P0019:Nlrp4a
|
UTSW |
7 |
26,149,062 (GRCm39) |
missense |
probably damaging |
1.00 |
R0020:Nlrp4a
|
UTSW |
7 |
26,149,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R0240:Nlrp4a
|
UTSW |
7 |
26,161,941 (GRCm39) |
missense |
probably benign |
0.00 |
R0240:Nlrp4a
|
UTSW |
7 |
26,161,941 (GRCm39) |
missense |
probably benign |
0.00 |
R0372:Nlrp4a
|
UTSW |
7 |
26,148,657 (GRCm39) |
splice site |
probably benign |
|
R0466:Nlrp4a
|
UTSW |
7 |
26,162,045 (GRCm39) |
splice site |
probably benign |
|
R0544:Nlrp4a
|
UTSW |
7 |
26,156,555 (GRCm39) |
missense |
probably benign |
0.00 |
R1006:Nlrp4a
|
UTSW |
7 |
26,152,892 (GRCm39) |
missense |
probably benign |
0.30 |
R1072:Nlrp4a
|
UTSW |
7 |
26,143,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R1432:Nlrp4a
|
UTSW |
7 |
26,163,622 (GRCm39) |
frame shift |
probably null |
|
R1655:Nlrp4a
|
UTSW |
7 |
26,149,076 (GRCm39) |
missense |
possibly damaging |
0.56 |
R1696:Nlrp4a
|
UTSW |
7 |
26,149,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R2041:Nlrp4a
|
UTSW |
7 |
26,149,611 (GRCm39) |
missense |
probably damaging |
0.97 |
R2091:Nlrp4a
|
UTSW |
7 |
26,149,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R2174:Nlrp4a
|
UTSW |
7 |
26,148,849 (GRCm39) |
missense |
probably damaging |
1.00 |
R2319:Nlrp4a
|
UTSW |
7 |
26,149,319 (GRCm39) |
missense |
probably benign |
0.10 |
R2358:Nlrp4a
|
UTSW |
7 |
26,163,623 (GRCm39) |
missense |
probably benign |
0.03 |
R2680:Nlrp4a
|
UTSW |
7 |
26,148,655 (GRCm39) |
splice site |
probably null |
|
R3812:Nlrp4a
|
UTSW |
7 |
26,149,118 (GRCm39) |
missense |
probably benign |
|
R4114:Nlrp4a
|
UTSW |
7 |
26,149,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R4664:Nlrp4a
|
UTSW |
7 |
26,148,943 (GRCm39) |
nonsense |
probably null |
|
R4676:Nlrp4a
|
UTSW |
7 |
26,149,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R4708:Nlrp4a
|
UTSW |
7 |
26,163,533 (GRCm39) |
missense |
probably benign |
0.00 |
R4728:Nlrp4a
|
UTSW |
7 |
26,174,515 (GRCm39) |
missense |
probably benign |
0.24 |
R4815:Nlrp4a
|
UTSW |
7 |
26,150,233 (GRCm39) |
missense |
probably benign |
0.00 |
R4831:Nlrp4a
|
UTSW |
7 |
26,149,844 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5007:Nlrp4a
|
UTSW |
7 |
26,161,905 (GRCm39) |
missense |
probably damaging |
0.99 |
R5253:Nlrp4a
|
UTSW |
7 |
26,149,917 (GRCm39) |
missense |
probably benign |
0.00 |
R5262:Nlrp4a
|
UTSW |
7 |
26,159,236 (GRCm39) |
critical splice donor site |
probably null |
|
R5441:Nlrp4a
|
UTSW |
7 |
26,153,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R5639:Nlrp4a
|
UTSW |
7 |
26,156,455 (GRCm39) |
missense |
probably benign |
0.02 |
R5641:Nlrp4a
|
UTSW |
7 |
26,149,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R5771:Nlrp4a
|
UTSW |
7 |
26,152,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R6312:Nlrp4a
|
UTSW |
7 |
26,148,821 (GRCm39) |
missense |
probably benign |
0.11 |
R7131:Nlrp4a
|
UTSW |
7 |
26,149,258 (GRCm39) |
missense |
probably benign |
0.21 |
R7149:Nlrp4a
|
UTSW |
7 |
26,149,863 (GRCm39) |
missense |
probably benign |
0.00 |
R7348:Nlrp4a
|
UTSW |
7 |
26,143,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R7384:Nlrp4a
|
UTSW |
7 |
26,148,963 (GRCm39) |
missense |
not run |
|
R7548:Nlrp4a
|
UTSW |
7 |
26,149,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R7566:Nlrp4a
|
UTSW |
7 |
26,148,670 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7646:Nlrp4a
|
UTSW |
7 |
26,148,987 (GRCm39) |
missense |
probably damaging |
0.96 |
R7692:Nlrp4a
|
UTSW |
7 |
26,148,690 (GRCm39) |
missense |
probably benign |
0.01 |
R7902:Nlrp4a
|
UTSW |
7 |
26,149,482 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7925:Nlrp4a
|
UTSW |
7 |
26,150,011 (GRCm39) |
missense |
probably benign |
0.10 |
R7937:Nlrp4a
|
UTSW |
7 |
26,163,571 (GRCm39) |
missense |
probably benign |
0.00 |
R7992:Nlrp4a
|
UTSW |
7 |
26,150,070 (GRCm39) |
missense |
possibly damaging |
0.51 |
R8205:Nlrp4a
|
UTSW |
7 |
26,150,219 (GRCm39) |
missense |
probably benign |
|
R8477:Nlrp4a
|
UTSW |
7 |
26,159,219 (GRCm39) |
missense |
probably benign |
|
R8704:Nlrp4a
|
UTSW |
7 |
26,156,563 (GRCm39) |
missense |
probably benign |
0.02 |
R8791:Nlrp4a
|
UTSW |
7 |
26,143,561 (GRCm39) |
splice site |
probably benign |
|
R9220:Nlrp4a
|
UTSW |
7 |
26,149,523 (GRCm39) |
missense |
probably damaging |
0.97 |
R9332:Nlrp4a
|
UTSW |
7 |
26,159,077 (GRCm39) |
missense |
probably damaging |
0.99 |
T0975:Nlrp4a
|
UTSW |
7 |
26,149,062 (GRCm39) |
missense |
probably damaging |
1.00 |
X0022:Nlrp4a
|
UTSW |
7 |
26,143,767 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1088:Nlrp4a
|
UTSW |
7 |
26,153,588 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTGTGAATGGCTTGACTTAAC -3'
(R):5'- GGTGGAAAGGCTAGTCTGTTAC -3'
Sequencing Primer
(F):5'- ATAAGTGTGAGCCACCATGTTG -3'
(R):5'- CTTCTGGTATGCCTACATCAAATAG -3'
|
Posted On |
2014-10-01 |