Mutagenetix > Incidental Mutation

Incidental Mutation 'R3812:Nlrp4a'

274103

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

040768-MU

Accession Numbers

Genbank: NM_172896; MGI: 2443697

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R3812 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26435113-26476142 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26449693 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 242 (W242R)

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: W242R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000066841
Gene: ENSMUSG00000040601
AA Change: W242R

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: W242R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112441
Gene: ENSMUSG00000040601
AA Change: W242R

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: W242R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (28/28)

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid2	T	C	15: 96,289,086 (GRCm38)	V73A	probably benign	Het
Bpifb2	T	A	2: 153,891,951 (GRCm38)	D404E	probably benign	Het
Ccdc150	A	G	1: 54,368,310 (GRCm38)	M1082V	probably benign	Het
Cyp4a31	T	C	4: 115,566,509 (GRCm38)	S137P	probably benign	Het
Cyp4f15	A	G	17: 32,686,177 (GRCm38)	I45V	probably benign	Het
Fbxw28	C	A	9: 109,338,530 (GRCm38)	C53F	possibly damaging	Het
Galntl5	T	C	5: 25,186,180 (GRCm38)	F26L	probably benign	Het
Gm9637	A	T	14: 19,402,398 (GRCm38)		noncoding transcript	Het
Lcmt2	G	A	2: 121,138,706 (GRCm38)	A632V	probably benign	Het
Metap2	A	T	10: 93,870,164 (GRCm38)	L252*	probably null	Het
Myo1a	A	G	10: 127,707,415 (GRCm38)	N180S	possibly damaging	Het
Olfr1143	C	T	2: 87,803,052 (GRCm38)	S221F	possibly damaging	Het
Olfr1152	T	A	2: 87,868,401 (GRCm38)	S137T	probably damaging	Het
Olfr1255	T	A	2: 89,817,051 (GRCm38)	S242T	probably damaging	Het
Otogl	A	G	10: 107,899,471 (GRCm38)	Y151H	probably damaging	Het
Pkd1	T	C	17: 24,565,641 (GRCm38)	V387A	probably benign	Het
Polm	A	G	11: 5,829,512 (GRCm38)	F429L	possibly damaging	Het
Sco2	T	C	15: 89,373,679 (GRCm38)		probably benign	Het
Secisbp2l	C	T	2: 125,740,737 (GRCm38)	G933D	possibly damaging	Het
Sorbs2	A	G	8: 45,763,030 (GRCm38)	T105A	probably benign	Het
Syt10	A	T	15: 89,790,797 (GRCm38)	C449S	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Txndc5	T	C	13: 38,523,405 (GRCm38)	K99E	probably benign	Het
Usp34	T	A	11: 23,464,517 (GRCm38)	F2820Y	possibly damaging	Het
Vmn1r170	T	C	7: 23,606,292 (GRCm38)	S40P	probably damaging	Het
Zfp292	A	T	4: 34,810,326 (GRCm38)	L906Q	probably damaging	Het

Other mutations in Nlrp4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00487:Nlrp4a	APN	7	26,449,985 (GRCm38)	missense	possibly damaging	0.51
IGL00972:Nlrp4a	APN	7	26,457,048 (GRCm38)	missense	probably benign
IGL01081:Nlrp4a	APN	7	26,449,829 (GRCm38)	missense	probably benign	0.06
IGL01788:Nlrp4a	APN	7	26,454,067 (GRCm38)	missense	probably benign	0.17
IGL02001:Nlrp4a	APN	7	26,449,969 (GRCm38)	missense	probably benign	0.01
IGL02070:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02175:Nlrp4a	APN	7	26,475,097 (GRCm38)	missense	probably damaging	1.00
IGL02193:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02193:Nlrp4a	APN	7	26,459,692 (GRCm38)	missense	probably damaging	1.00
IGL02197:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02200:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02202:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02207:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02237:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02240:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02658:Nlrp4a	APN	7	26,449,713 (GRCm38)	missense	probably benign	0.43
IGL02743:Nlrp4a	APN	7	26,459,815 (GRCm38)	splice site	probably benign
IGL02960:Nlrp4a	APN	7	26,449,730 (GRCm38)	missense	probably benign	0.05
IGL03064:Nlrp4a	APN	7	26,449,509 (GRCm38)	missense	probably benign	0.23
IGL03276:Nlrp4a	APN	7	26,464,190 (GRCm38)	missense	probably damaging	1.00
BB002:Nlrp4a	UTSW	7	26,450,586 (GRCm38)	missense	probably benign	0.10
BB012:Nlrp4a	UTSW	7	26,450,586 (GRCm38)	missense	probably benign	0.10
D3080:Nlrp4a	UTSW	7	26,444,341 (GRCm38)	missense	probably benign	0.22
P0019:Nlrp4a	UTSW	7	26,449,637 (GRCm38)	missense	probably damaging	1.00
R0020:Nlrp4a	UTSW	7	26,450,372 (GRCm38)	missense	probably damaging	1.00
R0240:Nlrp4a	UTSW	7	26,462,516 (GRCm38)	missense	probably benign	0.00
R0240:Nlrp4a	UTSW	7	26,462,516 (GRCm38)	missense	probably benign	0.00
R0372:Nlrp4a	UTSW	7	26,449,232 (GRCm38)	splice site	probably benign
R0466:Nlrp4a	UTSW	7	26,462,620 (GRCm38)	splice site	probably benign
R0544:Nlrp4a	UTSW	7	26,457,130 (GRCm38)	missense	probably benign	0.00
R1006:Nlrp4a	UTSW	7	26,453,467 (GRCm38)	missense	probably benign	0.30
R1072:Nlrp4a	UTSW	7	26,444,435 (GRCm38)	missense	probably damaging	1.00
R1432:Nlrp4a	UTSW	7	26,464,197 (GRCm38)	frame shift	probably null
R1655:Nlrp4a	UTSW	7	26,449,651 (GRCm38)	missense	possibly damaging	0.56
R1696:Nlrp4a	UTSW	7	26,450,534 (GRCm38)	missense	probably damaging	1.00
R2041:Nlrp4a	UTSW	7	26,450,186 (GRCm38)	missense	probably damaging	0.97
R2091:Nlrp4a	UTSW	7	26,450,153 (GRCm38)	missense	probably damaging	1.00
R2163:Nlrp4a	UTSW	7	26,453,397 (GRCm38)	missense	probably benign	0.00
R2174:Nlrp4a	UTSW	7	26,449,424 (GRCm38)	missense	probably damaging	1.00
R2319:Nlrp4a	UTSW	7	26,449,894 (GRCm38)	missense	probably benign	0.10
R2358:Nlrp4a	UTSW	7	26,464,198 (GRCm38)	missense	probably benign	0.03
R2680:Nlrp4a	UTSW	7	26,449,230 (GRCm38)	splice site	probably null
R4114:Nlrp4a	UTSW	7	26,449,940 (GRCm38)	missense	probably damaging	1.00
R4664:Nlrp4a	UTSW	7	26,449,518 (GRCm38)	nonsense	probably null
R4676:Nlrp4a	UTSW	7	26,450,229 (GRCm38)	missense	probably damaging	1.00
R4708:Nlrp4a	UTSW	7	26,464,108 (GRCm38)	missense	probably benign	0.00
R4728:Nlrp4a	UTSW	7	26,475,090 (GRCm38)	missense	probably benign	0.24
R4815:Nlrp4a	UTSW	7	26,450,808 (GRCm38)	missense	probably benign	0.00
R4831:Nlrp4a	UTSW	7	26,450,419 (GRCm38)	missense	possibly damaging	0.92
R5007:Nlrp4a	UTSW	7	26,462,480 (GRCm38)	missense	probably damaging	0.99
R5253:Nlrp4a	UTSW	7	26,450,492 (GRCm38)	missense	probably benign	0.00
R5262:Nlrp4a	UTSW	7	26,459,811 (GRCm38)	critical splice donor site	probably null
R5441:Nlrp4a	UTSW	7	26,454,153 (GRCm38)	missense	probably damaging	1.00
R5639:Nlrp4a	UTSW	7	26,457,030 (GRCm38)	missense	probably benign	0.02
R5641:Nlrp4a	UTSW	7	26,450,164 (GRCm38)	missense	probably damaging	1.00
R5771:Nlrp4a	UTSW	7	26,453,389 (GRCm38)	missense	probably damaging	1.00
R6312:Nlrp4a	UTSW	7	26,449,396 (GRCm38)	missense	probably benign	0.11
R7131:Nlrp4a	UTSW	7	26,449,833 (GRCm38)	missense	probably benign	0.21
R7149:Nlrp4a	UTSW	7	26,450,438 (GRCm38)	missense	probably benign	0.00
R7348:Nlrp4a	UTSW	7	26,444,273 (GRCm38)	missense	probably damaging	1.00
R7384:Nlrp4a	UTSW	7	26,449,538 (GRCm38)	missense	not run
R7548:Nlrp4a	UTSW	7	26,450,179 (GRCm38)	missense	probably damaging	1.00
R7566:Nlrp4a	UTSW	7	26,449,245 (GRCm38)	critical splice acceptor site	probably null
R7646:Nlrp4a	UTSW	7	26,449,562 (GRCm38)	missense	probably damaging	0.96
R7692:Nlrp4a	UTSW	7	26,449,265 (GRCm38)	missense	probably benign	0.01
R7902:Nlrp4a	UTSW	7	26,450,057 (GRCm38)	missense	possibly damaging	0.65
R7925:Nlrp4a	UTSW	7	26,450,586 (GRCm38)	missense	probably benign	0.10
R7937:Nlrp4a	UTSW	7	26,464,146 (GRCm38)	missense	probably benign	0.00
R7992:Nlrp4a	UTSW	7	26,450,645 (GRCm38)	missense	possibly damaging	0.51
R8205:Nlrp4a	UTSW	7	26,450,794 (GRCm38)	missense	probably benign
R8477:Nlrp4a	UTSW	7	26,459,794 (GRCm38)	missense	probably benign
R8704:Nlrp4a	UTSW	7	26,457,138 (GRCm38)	missense	probably benign	0.02
R8791:Nlrp4a	UTSW	7	26,444,136 (GRCm38)	splice site	probably benign
R9220:Nlrp4a	UTSW	7	26,450,098 (GRCm38)	missense	probably damaging	0.97
R9332:Nlrp4a	UTSW	7	26,459,652 (GRCm38)	missense	probably damaging	0.99
T0975:Nlrp4a	UTSW	7	26,449,637 (GRCm38)	missense	probably damaging	1.00
X0022:Nlrp4a	UTSW	7	26,444,342 (GRCm38)	missense	probably damaging	0.99
Z1088:Nlrp4a	UTSW	7	26,454,163 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTACTTCTGCTGTCGAGAAGTG -3'
(R):5'- AGGCTTCATGGGCTCTGTTC -3'

Sequencing Primer
(F):5'- TCTGCTGTCGAGAAGTGAAGCAG -3'
(R):5'- GGCTCTGTTCCTATCTTGGAATAATC -3'

Posted On

2015-04-02