Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02200:Nlrp4a'

284146

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nlrp4a

Ensembl Gene

ENSMUSG00000040601

Gene Name

NLR family, pyrin domain containing 4A

Synonyms

Nalp-eta, E330028A19Rik, Nalp4a

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

IGL02200

Quality Score

Status

Chromosome

Chromosomal Location

26134538-26175100 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 26148703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 103 (K103N)

Ref Sequence

ENSEMBL: ENSMUSP00000146044 (fasta)

Gene Model

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

AlphaFold

Q8BU40

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068767
AA Change: K103N

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000066841
Gene: ENSMUSG00000040601
AA Change: K103N

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

possibly damaging
Transcript: ENSMUST00000119386
AA Change: K103N

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112441
Gene: ENSMUSG00000040601
AA Change: K103N

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

possibly damaging
Transcript: ENSMUST00000146907
AA Change: K103N

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,862,663 (GRCm39)	E207G	probably benign	Het
Ahi1	T	C	10: 20,857,213 (GRCm39)		probably benign	Het
Ankrd26	A	T	6: 118,536,302 (GRCm39)	V97E	probably damaging	Het
Cadps2	T	C	6: 23,385,527 (GRCm39)	Y736C	probably damaging	Het
Cdon	T	C	9: 35,394,405 (GRCm39)	W884R	probably benign	Het
Cflar	A	G	1: 58,791,828 (GRCm39)	D380G	probably damaging	Het
Clca3a1	A	T	3: 144,457,690 (GRCm39)		probably benign	Het
Clca3b	A	G	3: 144,547,190 (GRCm39)	S316P	probably damaging	Het
Crispld1	T	C	1: 17,820,557 (GRCm39)		probably benign	Het
Diaph1	G	A	18: 38,023,735 (GRCm39)	P701L	unknown	Het
Dip2b	T	C	15: 100,049,083 (GRCm39)	L159P	possibly damaging	Het
Dock1	A	G	7: 134,346,000 (GRCm39)	T181A	probably benign	Het
Ear1	C	T	14: 44,056,709 (GRCm39)	R53H	probably benign	Het
Gm2663	A	G	6: 40,972,947 (GRCm39)	V220A	probably benign	Het
Gpi-ps	A	G	8: 5,689,968 (GRCm39)		noncoding transcript	Het
Grik1	A	G	16: 87,737,453 (GRCm39)	F614L	probably damaging	Het
Htr2a	T	A	14: 74,943,605 (GRCm39)	I395N	probably damaging	Het
Itsn2	A	G	12: 4,686,632 (GRCm39)	D528G	probably damaging	Het
Kdr	T	C	5: 76,110,762 (GRCm39)		probably benign	Het
M6pr	A	G	6: 122,292,027 (GRCm39)	M120V	probably benign	Het
Mettl13	G	A	1: 162,366,392 (GRCm39)		probably benign	Het
Mtfmt	A	G	9: 65,356,063 (GRCm39)		probably benign	Het
Ogfrl1	C	T	1: 23,409,150 (GRCm39)	V359I	probably benign	Het
Or51f1d	C	T	7: 102,701,000 (GRCm39)	T165I	probably benign	Het
Ovch2	T	C	7: 107,394,030 (GRCm39)	Y141C	probably damaging	Het
Pwwp2a	A	C	11: 43,596,955 (GRCm39)	I432L	possibly damaging	Het
Ryr3	C	T	2: 112,679,855 (GRCm39)	V1245M	probably damaging	Het
Sis	T	C	3: 72,850,937 (GRCm39)	H587R	probably damaging	Het
Snrnp40	A	G	4: 130,254,014 (GRCm39)	K6E	probably damaging	Het
Snx13	A	T	12: 35,136,884 (GRCm39)	D115V	probably damaging	Het
Sohlh2	C	A	3: 55,097,977 (GRCm39)	T143K	probably damaging	Het
Spag4	T	C	2: 155,908,517 (GRCm39)	L55S	probably benign	Het
Trgc2	T	C	13: 19,491,521 (GRCm39)		probably benign	Het
Vmn2r77	T	C	7: 86,451,187 (GRCm39)	S358P	probably benign	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
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
R2163:Nlrp4a	UTSW	7	26,152,822 (GRCm39)	missense	probably benign	0.00
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

Posted On

2015-04-16