Mutagenetix > Incidental Mutation

Incidental Mutation 'R5007:Nlrp4a'

390205

Institutional Source

Beutler Lab

Gene Symbol

Nlrp4a

Ensembl Gene

ENSMUSG00000040601

Gene Name

NLR family, pyrin domain containing 4A

Synonyms

E330028A19Rik, Nalp-eta, Nalp4a

MMRRC Submission

042598-MU

Accession Numbers

Genbank: NM_172896; MGI: 2443697

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R5007 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26435113-26476142 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26462480 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 851 (D851G)

Ref Sequence

ENSEMBL: ENSMUSP00000146044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068767] [ENSMUST00000119386] [ENSMUST00000146907]

AlphaFold

Q8BU40

Predicted Effect

probably damaging
Transcript: ENSMUST00000068767
AA Change: D851G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000066841
Gene: ENSMUSG00000040601
AA Change: D851G

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 damaging
Transcript: ENSMUST00000119386
AA Change: D851G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112441
Gene: ENSMUSG00000040601
AA Change: D851G

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

probably damaging
Transcript: ENSMUST00000146907
AA Change: D851G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.4906

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.6%

Validation Efficiency

99% (89/90)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	G	7: 27,578,767	T242R	probably damaging	Het
Abca8b	T	C	11: 109,936,764	T1473A	probably damaging	Het
Adam22	T	C	5: 8,167,393	Y134C	probably damaging	Het
Alg9	T	A	9: 50,788,224	M183K	probably damaging	Het
Ambra1	T	C	2: 91,772,310	I213T	possibly damaging	Het
Ankrd55	T	A	13: 112,367,932	V376D	probably benign	Het
Ano4	A	C	10: 89,112,945	V166G	probably benign	Het
Aox3	T	A	1: 58,163,424	C730S	probably benign	Het
Apc	T	A	18: 34,312,963	Y953N	probably damaging	Het
Ass1	T	C	2: 31,501,532	F273S	possibly damaging	Het
Atg2b	T	C	12: 105,643,876		probably null	Het
B3gnt9	A	G	8: 105,254,490	Y89H	probably damaging	Het
Cd38	T	G	5: 43,906,164	F200V	probably damaging	Het
Cep170	G	T	1: 176,769,814	R388S	probably benign	Het
Col22a1	A	T	15: 71,944,422	D614E	probably damaging	Het
Crybg3	C	A	16: 59,558,100		probably benign	Het
Ctdp1	A	T	18: 80,420,480	S114T	probably damaging	Het
Dctd	C	T	8: 48,137,414		probably benign	Het
Dmtf1	T	C	5: 9,122,439		probably benign	Het
Dnhd1	G	A	7: 105,713,076	V3715M	probably damaging	Het
Dok1	A	T	6: 83,032,316	L185H	probably damaging	Het
Dpep1	T	C	8: 123,199,378	V152A	probably damaging	Het
Eif2ak1	G	T	5: 143,873,880	R136L	probably benign	Het
Eml5	A	T	12: 98,830,965	S1063T	probably damaging	Het
Fam171b	T	A	2: 83,855,509	L179*	probably null	Het
Fam213b	A	G	4: 154,897,074		probably null	Het
Flot1	G	T	17: 35,824,375		probably benign	Het
Fmn2	A	T	1: 174,744,300	H1491L	probably damaging	Het
Frem1	C	T	4: 82,940,812		probably benign	Het
Gdf2	A	G	14: 33,944,906	D195G	probably benign	Het
Golga4	T	G	9: 118,558,300	C1497G	probably benign	Het
Gpaa1	T	A	15: 76,331,668	C33*	probably null	Het
Hectd1	A	T	12: 51,802,660	C254S	possibly damaging	Het
Hspa1b	C	T	17: 34,958,110	A300T	probably benign	Het
Igf2bp2	A	G	16: 22,079,496	I233T	probably damaging	Het
Iqce	C	A	5: 140,675,248	A491S	possibly damaging	Het
Irak3	A	G	10: 120,146,429		probably null	Het
Kcnip1	T	A	11: 33,642,495	H124L	probably benign	Het
Klhdc10	G	A	6: 30,450,641	R393Q	probably benign	Het
Klhl28	C	T	12: 64,957,227	E171K	probably damaging	Het
Map2	T	C	1: 66,413,289	V288A	possibly damaging	Het
Mdp1	C	T	14: 55,659,226	R126Q	probably damaging	Het
Meltf	A	G	16: 31,887,562	D288G	possibly damaging	Het
Mgat4e	T	A	1: 134,541,152	I385F	probably benign	Het
Mical3	A	C	6: 121,038,069	V211G	probably damaging	Het
Mlh1	A	G	9: 111,271,410	*39R	probably null	Het
Mre11a	A	G	9: 14,809,820	D345G	probably benign	Het
Mroh2a	GCCC	GC	1: 88,232,257		probably null	Het
Msh2	C	A	17: 87,723,413	A906E	probably benign	Het
Nat1	T	G	8: 67,491,425	L154R	probably benign	Het
Npas4	A	C	19: 4,989,656	V54G	possibly damaging	Het
Olfr702	T	C	7: 106,824,157	Y123C	probably damaging	Het
Pcbp4	G	A	9: 106,462,093	G100R	probably damaging	Het
Pcdh17	A	G	14: 84,533,297	T1072A	probably benign	Het
Pcdh18	T	C	3: 49,754,457	N803S	probably benign	Het
Ppat	C	T	5: 76,928,678		probably benign	Het
Ppm1l	T	A	3: 69,317,598	L11Q	probably damaging	Het
Pram1	T	A	17: 33,645,437	V658E	probably damaging	Het
Prr12	C	T	7: 45,049,801		probably benign	Het
Ptprq	A	G	10: 107,608,276	V1489A	probably benign	Het
Ryr1	T	A	7: 29,069,115	I2817F	probably damaging	Het
Sall2	A	G	14: 52,314,493	L413P	probably damaging	Het
Slc7a9	T	A	7: 35,454,129	M185K	probably benign	Het
Stag2	C	T	X: 42,266,253	H1149Y	possibly damaging	Het
Timm10b	T	A	7: 105,641,091	Y64N	probably damaging	Het
Tmem30c	T	C	16: 57,266,505	T312A	probably benign	Het
Tmem9b	G	T	7: 109,745,343	C17*	probably null	Het
Vmn2r68	C	A	7: 85,232,414	R486L	probably benign	Het
Xkr9	T	A	1: 13,701,163	I301N	probably damaging	Het
Xpo7	T	C	14: 70,688,264	Q446R	probably damaging	Het
Ythdf3	T	C	3: 16,205,198	V503A	possibly damaging	Het
Zfp280b	T	A	10: 76,039,214	V309D	probably damaging	Het
Zfp53	T	A	17: 21,509,510	C602S	probably benign	Het
Zfp616	A	T	11: 74,083,817	N395I	possibly damaging	Het
Zfp644	T	C	5: 106,636,001	I862M	probably benign	Het
Zfp715	T	C	7: 43,299,595	T314A	possibly damaging	Het

Other mutations in Nlrp4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00487:Nlrp4a	APN	7	26449985	missense	possibly damaging	0.51
IGL00972:Nlrp4a	APN	7	26457048	missense	probably benign
IGL01081:Nlrp4a	APN	7	26449829	missense	probably benign	0.06
IGL01788:Nlrp4a	APN	7	26454067	missense	probably benign	0.17
IGL02001:Nlrp4a	APN	7	26449969	missense	probably benign	0.01
IGL02070:Nlrp4a	APN	7	26449278	missense	possibly damaging	0.77
IGL02175:Nlrp4a	APN	7	26475097	missense	probably damaging	1.00
IGL02193:Nlrp4a	APN	7	26459692	missense	probably damaging	1.00
IGL02193:Nlrp4a	APN	7	26449278	missense	possibly damaging	0.77
IGL02197:Nlrp4a	APN	7	26449278	missense	possibly damaging	0.77
IGL02200:Nlrp4a	APN	7	26449278	missense	possibly damaging	0.77
IGL02202:Nlrp4a	APN	7	26449278	missense	possibly damaging	0.77
IGL02207:Nlrp4a	APN	7	26449278	missense	possibly damaging	0.77
IGL02237:Nlrp4a	APN	7	26449278	missense	possibly damaging	0.77
IGL02240:Nlrp4a	APN	7	26449278	missense	possibly damaging	0.77
IGL02658:Nlrp4a	APN	7	26449713	missense	probably benign	0.43
IGL02743:Nlrp4a	APN	7	26459815	splice site	probably benign
IGL02960:Nlrp4a	APN	7	26449730	missense	probably benign	0.05
IGL03064:Nlrp4a	APN	7	26449509	missense	probably benign	0.23
IGL03276:Nlrp4a	APN	7	26464190	missense	probably damaging	1.00
BB002:Nlrp4a	UTSW	7	26450586	missense	probably benign	0.10
BB012:Nlrp4a	UTSW	7	26450586	missense	probably benign	0.10
D3080:Nlrp4a	UTSW	7	26444341	missense	probably benign	0.22
P0019:Nlrp4a	UTSW	7	26449637	missense	probably damaging	1.00
R0020:Nlrp4a	UTSW	7	26450372	missense	probably damaging	1.00
R0240:Nlrp4a	UTSW	7	26462516	missense	probably benign	0.00
R0240:Nlrp4a	UTSW	7	26462516	missense	probably benign	0.00
R0372:Nlrp4a	UTSW	7	26449232	splice site	probably benign
R0466:Nlrp4a	UTSW	7	26462620	splice site	probably benign
R0544:Nlrp4a	UTSW	7	26457130	missense	probably benign	0.00
R1006:Nlrp4a	UTSW	7	26453467	missense	probably benign	0.30
R1072:Nlrp4a	UTSW	7	26444435	missense	probably damaging	1.00
R1432:Nlrp4a	UTSW	7	26464197	frame shift	probably null
R1655:Nlrp4a	UTSW	7	26449651	missense	possibly damaging	0.56
R1696:Nlrp4a	UTSW	7	26450534	missense	probably damaging	1.00
R2041:Nlrp4a	UTSW	7	26450186	missense	probably damaging	0.97
R2091:Nlrp4a	UTSW	7	26450153	missense	probably damaging	1.00
R2163:Nlrp4a	UTSW	7	26453397	missense	probably benign	0.00
R2174:Nlrp4a	UTSW	7	26449424	missense	probably damaging	1.00
R2319:Nlrp4a	UTSW	7	26449894	missense	probably benign	0.10
R2358:Nlrp4a	UTSW	7	26464198	missense	probably benign	0.03
R2680:Nlrp4a	UTSW	7	26449230	splice site	probably null
R3812:Nlrp4a	UTSW	7	26449693	missense	probably benign
R4114:Nlrp4a	UTSW	7	26449940	missense	probably damaging	1.00
R4664:Nlrp4a	UTSW	7	26449518	nonsense	probably null
R4676:Nlrp4a	UTSW	7	26450229	missense	probably damaging	1.00
R4708:Nlrp4a	UTSW	7	26464108	missense	probably benign	0.00
R4728:Nlrp4a	UTSW	7	26475090	missense	probably benign	0.24
R4815:Nlrp4a	UTSW	7	26450808	missense	probably benign	0.00
R4831:Nlrp4a	UTSW	7	26450419	missense	possibly damaging	0.92
R5253:Nlrp4a	UTSW	7	26450492	missense	probably benign	0.00
R5262:Nlrp4a	UTSW	7	26459811	critical splice donor site	probably null
R5441:Nlrp4a	UTSW	7	26454153	missense	probably damaging	1.00
R5639:Nlrp4a	UTSW	7	26457030	missense	probably benign	0.02
R5641:Nlrp4a	UTSW	7	26450164	missense	probably damaging	1.00
R5771:Nlrp4a	UTSW	7	26453389	missense	probably damaging	1.00
R6312:Nlrp4a	UTSW	7	26449396	missense	probably benign	0.11
R7131:Nlrp4a	UTSW	7	26449833	missense	probably benign	0.21
R7149:Nlrp4a	UTSW	7	26450438	missense	probably benign	0.00
R7348:Nlrp4a	UTSW	7	26444273	missense	probably damaging	1.00
R7384:Nlrp4a	UTSW	7	26449538	missense	not run
R7548:Nlrp4a	UTSW	7	26450179	missense	probably damaging	1.00
R7566:Nlrp4a	UTSW	7	26449245	critical splice acceptor site	probably null
R7646:Nlrp4a	UTSW	7	26449562	missense	probably damaging	0.96
R7692:Nlrp4a	UTSW	7	26449265	missense	probably benign	0.01
R7902:Nlrp4a	UTSW	7	26450057	missense	possibly damaging	0.65
R7925:Nlrp4a	UTSW	7	26450586	missense	probably benign	0.10
R7937:Nlrp4a	UTSW	7	26464146	missense	probably benign	0.00
R7992:Nlrp4a	UTSW	7	26450645	missense	possibly damaging	0.51
R8205:Nlrp4a	UTSW	7	26450794	missense	probably benign
R8477:Nlrp4a	UTSW	7	26459794	missense	probably benign
R8704:Nlrp4a	UTSW	7	26457138	missense	probably benign	0.02
R8791:Nlrp4a	UTSW	7	26444136	splice site	probably benign
R9220:Nlrp4a	UTSW	7	26450098	missense	probably damaging	0.97
R9332:Nlrp4a	UTSW	7	26459652	missense	probably damaging	0.99
T0975:Nlrp4a	UTSW	7	26449637	missense	probably damaging	1.00
X0022:Nlrp4a	UTSW	7	26444342	missense	probably damaging	0.99
Z1088:Nlrp4a	UTSW	7	26454163	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCAGTTCATCTTCAAGGCTATTG -3'
(R):5'- TTTTGGCACCCTCAAAGATACAG -3'

Sequencing Primer
(F):5'- GCTTTGTATACTCCTTTTTCATTGTC -3'
(R):5'- GATACAGCTATAACCTTGATGACAC -3'

Posted On

2016-06-06