Mutagenetix > Incidental Mutation

Incidental Mutation 'R2422:Nlrp4d'

249374

Institutional Source

Beutler Lab

Gene Symbol

Nlrp4d

Ensembl Gene

ENSMUSG00000034122

Gene Name

NLR family, pyrin domain containing 4D

Synonyms

Nalp4d, Nalp-beta

MMRRC Submission

040384-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2422 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10358862-10388935 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10362945 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 876 (D876V)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000086269
AA Change: D876V

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000083450
Gene: ENSMUSG00000034122
AA Change: D876V

Domain	Start	End	E-Value	Type
PYRIN	6	89	2.6e-31	SMART
Pfam:NACHT	150	318	2.4e-34	PFAM
low complexity region	575	586	N/A	INTRINSIC
LRR	674	701	1.3e-1	SMART
Blast:LRR	703	729	8e-7	BLAST
LRR	730	756	2.1e-2	SMART
LRR	758	785	2.1e-1	SMART
LRR	786	813	1.6e-5	SMART
LRR	814	837	3.5e-1	SMART
LRR	838	865	2.7e-6	SMART
LRR	867	894	7.2e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182420

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184509
AA Change: R866S

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,591,520 (GRCm38)	N47I	probably benign	Het
Actr5	T	C	2: 158,636,081 (GRCm38)	F457S	probably damaging	Het
Adamts3	A	G	5: 89,683,175 (GRCm38)	S1007P	probably damaging	Het
Adck2	C	T	6: 39,583,998 (GRCm38)	A440V	possibly damaging	Het
Birc6	T	A	17: 74,660,614 (GRCm38)	L301Q	probably damaging	Het
Ccdc121rt3	A	T	5: 112,355,118 (GRCm38)	V240D	probably damaging	Het
Ccdc18	A	C	5: 108,228,588 (GRCm38)	E1298D	probably damaging	Het
Ccdc77	A	G	6: 120,339,159 (GRCm38)	C186R	probably benign	Het
Cdk12	T	G	11: 98,219,074 (GRCm38)	S640R	probably benign	Het
Cdv3	T	C	9: 103,365,118 (GRCm38)		probably benign	Het
Celf2	G	A	2: 6,553,889 (GRCm38)	T364I	probably damaging	Het
Cmtr2	C	A	8: 110,222,781 (GRCm38)	S574R	probably benign	Het
Col14a1	T	C	15: 55,449,922 (GRCm38)	L56P	unknown	Het
Cracdl	C	A	1: 37,613,475 (GRCm38)	V1084L	probably benign	Het
Dctn1	C	T	6: 83,199,800 (GRCm38)	L1241F	possibly damaging	Het
Depdc5	T	C	5: 32,991,035 (GRCm38)	F1505S	probably damaging	Het
Dhcr24	G	T	4: 106,561,094 (GRCm38)		probably benign	Het
Dnajc21	A	G	15: 10,461,935 (GRCm38)	S127P	probably benign	Het
Entpd7	A	T	19: 43,728,088 (GRCm38)	Y507F	possibly damaging	Het
Fbp1	T	C	13: 62,871,306 (GRCm38)	K24E	probably benign	Het
Galr1	A	T	18: 82,405,923 (GRCm38)	N76K	probably damaging	Het
Glrb	A	G	3: 80,860,235 (GRCm38)	I226T	probably damaging	Het
Gm17421	T	A	12: 113,369,487 (GRCm38)		noncoding transcript	Het
Gm4950	T	A	18: 51,865,784 (GRCm38)	Q33L	probably benign	Het
Gnat2	A	T	3: 108,095,539 (GRCm38)	M88L	probably damaging	Het
Gpr183	A	G	14: 121,954,177 (GRCm38)	Y311H	probably damaging	Het
H2-M10.5	A	G	17: 36,774,999 (GRCm38)	I308V	probably benign	Het
Hipk3	C	T	2: 104,471,485 (GRCm38)	G121R	probably benign	Het
Hjurp	A	G	1: 88,266,561 (GRCm38)		probably benign	Het
Homez	C	A	14: 54,857,574 (GRCm38)	V226F	probably benign	Het
Inf2	C	A	12: 112,610,824 (GRCm38)	A1034D	unknown	Het
Kcnc4	G	T	3: 107,445,547 (GRCm38)	P572T	probably benign	Het
Kmt2d	T	C	15: 98,862,266 (GRCm38)	E1037G	unknown	Het
Krt78	T	C	15: 101,947,264 (GRCm38)	E704G	probably damaging	Het
Lama1	A	T	17: 67,750,553 (GRCm38)	M541L	probably benign	Het
Lmbrd2	C	T	15: 9,194,765 (GRCm38)	T618M	possibly damaging	Het
Ly6g6e	G	A	17: 35,078,146 (GRCm38)	R121Q	probably benign	Het
Mettl22	T	C	16: 8,487,361 (GRCm38)	F293L	probably damaging	Het
Mib1	T	C	18: 10,751,906 (GRCm38)	S263P	probably damaging	Het
Ndufaf1	T	C	2: 119,655,737 (GRCm38)	E298G	probably damaging	Het
Nek1	T	C	8: 61,019,901 (GRCm38)	V152A	probably damaging	Het
Or10d5	A	G	9: 39,950,528 (GRCm38)	L81P	possibly damaging	Het
Or11g7	T	C	14: 50,453,436 (GRCm38)	L128P	probably damaging	Het
Or5an11	A	T	19: 12,268,919 (GRCm38)	T230S	probably damaging	Het
Or5k15	T	C	16: 58,889,965 (GRCm38)	E85G	probably benign	Het
Pcdha11	G	T	18: 37,007,272 (GRCm38)	L651F	probably damaging	Het
Plekhg1	G	A	10: 3,958,048 (GRCm38)	M988I	probably benign	Het
Plxnb1	G	A	9: 109,108,438 (GRCm38)	R1169H	probably benign	Het
Ppp4r3a	A	G	12: 101,042,653 (GRCm38)		probably benign	Het
Pum2	A	T	12: 8,748,931 (GRCm38)	Q930L	possibly damaging	Het
Rbp4	T	C	19: 38,124,344 (GRCm38)	E67G	probably damaging	Het
Rgs9	C	A	11: 109,225,777 (GRCm38)		probably null	Het
Semp2l1	C	T	1: 32,545,861 (GRCm38)	A323T	possibly damaging	Het
Sipa1	A	T	19: 5,652,112 (GRCm38)	D923E	possibly damaging	Het
Smc1a	A	G	X: 152,047,975 (GRCm38)		probably benign	Het
Snx33	C	A	9: 56,918,538 (GRCm38)	M546I	probably benign	Het
Spag17	T	A	3: 100,027,619 (GRCm38)	W714R	probably benign	Het
Spata2	C	T	2: 167,484,206 (GRCm38)	R231Q	probably damaging	Het
Stard9	C	T	2: 120,700,284 (GRCm38)	R2341C	probably benign	Het
Tas2r116	A	T	6: 132,855,594 (GRCm38)	I53F	possibly damaging	Het
Tlk1	T	C	2: 70,770,005 (GRCm38)	E110G	probably damaging	Het
Tmem102	T	A	11: 69,804,537 (GRCm38)	E203V	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttc23l	G	A	15: 10,537,566 (GRCm38)	S206L	probably benign	Het
Ttc23l	CT	CTTGGATT	15: 10,537,562 (GRCm38)		probably benign	Het
Tyw5	A	G	1: 57,396,748 (GRCm38)	I82T	possibly damaging	Het
Uba6	A	G	5: 86,132,616 (GRCm38)		probably null	Het
Ugcg	C	T	4: 59,207,798 (GRCm38)	P46S	probably benign	Het
Unc13c	T	C	9: 73,931,547 (GRCm38)	Y674C	probably damaging	Het
Vmn2r105	T	A	17: 20,227,835 (GRCm38)	R242S	probably benign	Het
Vmn2r12	A	G	5: 109,086,532 (GRCm38)	Y605H	probably benign	Het
Wdr77	A	T	3: 105,960,021 (GRCm38)	K62*	probably null	Het
Zfhx4	C	A	3: 5,390,405 (GRCm38)	A1153E	probably benign	Het
Zfp266	C	A	9: 20,499,262 (GRCm38)	V540L	possibly damaging	Het
Zfp638	C	A	6: 83,966,439 (GRCm38)		probably benign	Het
Zfp644	A	G	5: 106,637,244 (GRCm38)	M479T	possibly damaging	Het
Zfp951	G	A	5: 104,815,277 (GRCm38)	T141I	probably benign	Het

Other mutations in Nlrp4d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00981:Nlrp4d	APN	7	10,382,094 (GRCm38)	exon	noncoding transcript
IGL01076:Nlrp4d	APN	7	10,372,083 (GRCm38)	missense	unknown	0.00
IGL01656:Nlrp4d	APN	7	10,364,147 (GRCm38)	missense	noncoding transcript
IGL01889:Nlrp4d	APN	7	10,378,334 (GRCm38)	missense	unknown	0.00
IGL02110:Nlrp4d	APN	7	10,382,564 (GRCm38)	exon	noncoding transcript
IGL02271:Nlrp4d	APN	7	10,388,698 (GRCm38)	exon	noncoding transcript
IGL02637:Nlrp4d	APN	7	10,382,555 (GRCm38)	exon	noncoding transcript
snoop	UTSW	7	10,374,891 (GRCm38)	missense	probably benign	0.02
1mM(1):Nlrp4d	UTSW	7	10,381,713 (GRCm38)	missense	probably benign	0.09
F5493:Nlrp4d	UTSW	7	10,381,084 (GRCm38)	missense	possibly damaging	0.84
IGL03048:Nlrp4d	UTSW	7	10,358,954 (GRCm38)	unclassified	noncoding transcript
R0116:Nlrp4d	UTSW	7	10,374,891 (GRCm38)	missense	probably benign	0.02
R0125:Nlrp4d	UTSW	7	10,382,389 (GRCm38)	missense	probably damaging	1.00
R0390:Nlrp4d	UTSW	7	10,388,778 (GRCm38)	missense	probably benign	0.04
R0452:Nlrp4d	UTSW	7	10,378,292 (GRCm38)	missense	probably benign	0.01
R0595:Nlrp4d	UTSW	7	10,381,045 (GRCm38)	missense	probably benign	0.00
R0729:Nlrp4d	UTSW	7	10,377,685 (GRCm38)	critical splice donor site	probably benign
R0733:Nlrp4d	UTSW	7	10,382,522 (GRCm38)	missense	probably benign	0.02
R1147:Nlrp4d	UTSW	7	10,388,717 (GRCm38)	missense	probably benign	0.00
R1217:Nlrp4d	UTSW	7	10,364,267 (GRCm38)	missense	probably benign	0.36
R1378:Nlrp4d	UTSW	7	10,364,184 (GRCm38)	missense	probably benign	0.23
R1414:Nlrp4d	UTSW	7	10,382,601 (GRCm38)	missense	probably benign	0.22
R1583:Nlrp4d	UTSW	7	10,382,237 (GRCm38)	missense	probably damaging	0.99
R1585:Nlrp4d	UTSW	7	10,382,510 (GRCm38)	missense	probably benign	0.02
R1882:Nlrp4d	UTSW	7	10,382,677 (GRCm38)	critical splice acceptor site	noncoding transcript
R2907:Nlrp4d	UTSW	7	10,378,427 (GRCm38)	missense	probably benign	0.00
R2964:Nlrp4d	UTSW	7	10,378,329 (GRCm38)	nonsense	probably null
R2974:Nlrp4d	UTSW	7	10,378,440 (GRCm38)	critical splice acceptor site	probably benign
R3401:Nlrp4d	UTSW	7	10,362,854 (GRCm38)	missense	probably damaging	1.00
R3402:Nlrp4d	UTSW	7	10,362,854 (GRCm38)	missense	probably damaging	1.00
R4240:Nlrp4d	UTSW	7	10,381,316 (GRCm38)	missense	noncoding transcript
R4682:Nlrp4d	UTSW	7	10,374,952 (GRCm38)	missense	noncoding transcript
R4766:Nlrp4d	UTSW	7	10,362,779 (GRCm38)	critical splice donor site	unknown
R4864:Nlrp4d	UTSW	7	10,381,161 (GRCm38)	missense	noncoding transcript
R4910:Nlrp4d	UTSW	7	10,378,409 (GRCm38)	exon	noncoding transcript
R5307:Nlrp4d	UTSW	7	10,362,782 (GRCm38)	nonsense	probably null
R5596:Nlrp4d	UTSW	7	10,382,024 (GRCm38)	missense	noncoding transcript
R5857:Nlrp4d	UTSW	7	10,382,377 (GRCm38)	missense	noncoding transcript

Predicted Primers

PCR Primer
(F):5'- ACCTGCATATTTCAGATCCCAC -3'
(R):5'- CTGAGAATGAGCGATGTGGTC -3'

Sequencing Primer
(F):5'- TTCCTAAGGACTCATCATACCAAGG -3'
(R):5'- TGTGGTCACATGTGCCAATGAAG -3'

Posted On

2014-11-12