Mutagenetix > Incidental Mutation

Incidental Mutation 'R1882:Nlrp4d'

209177

Institutional Source

Beutler Lab

Gene Symbol

Nlrp4d

Ensembl Gene

ENSMUSG00000034122

Gene Name

NLR family, pyrin domain containing 4D

Synonyms

Nalp-beta, Nalp4d

MMRRC Submission

039903-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1882 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10092800-10122862 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 10116604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000083450
Gene: ENSMUSG00000034122

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

Meta Mutation Damage Score

0.0928

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.6%
20x: 93.5%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	C	19: 43,786,945 (GRCm39)	S189P	probably benign	Het
Adgrg3	G	T	8: 95,766,943 (GRCm39)	V433F	probably benign	Het
Arhgap33	A	T	7: 30,222,234 (GRCm39)	W1233R	probably damaging	Het
Brf2	T	C	8: 27,618,577 (GRCm39)	D9G	probably damaging	Het
Btrc	G	A	19: 45,515,839 (GRCm39)	R562Q	probably damaging	Het
Cenpu	T	C	8: 47,009,225 (GRCm39)	F67L	probably damaging	Het
Chia1	T	C	3: 106,035,790 (GRCm39)	M150T	probably damaging	Het
Cntln	A	G	4: 85,019,072 (GRCm39)	E1254G	probably damaging	Het
Creld1	G	A	6: 113,469,166 (GRCm39)	C332Y	probably damaging	Het
Ctla2a	A	G	13: 61,083,355 (GRCm39)		probably benign	Het
Dusp13b	A	T	14: 21,785,043 (GRCm39)	D223E	probably benign	Het
Ext1	C	A	15: 52,939,188 (GRCm39)	L620F	probably damaging	Het
H2-DMb2	C	T	17: 34,366,834 (GRCm39)	R89C	probably damaging	Het
Klhl32	A	T	4: 24,743,916 (GRCm39)	L17*	probably null	Het
Lats2	C	T	14: 57,934,811 (GRCm39)	V640M	probably damaging	Het
Lrig3	G	A	10: 125,845,694 (GRCm39)	V708I	possibly damaging	Het
Mtcl1	T	C	17: 66,686,315 (GRCm39)	T415A	probably benign	Het
Mynn	A	G	3: 30,670,962 (GRCm39)	*611W	probably null	Het
Nfx1	A	G	4: 41,009,240 (GRCm39)	T793A	possibly damaging	Het
Nos3	T	C	5: 24,573,818 (GRCm39)	V194A	probably damaging	Het
Npc1l1	C	T	11: 6,167,473 (GRCm39)		probably null	Het
Nrg2	T	C	18: 36,154,150 (GRCm39)	D589G	probably damaging	Het
Omg	C	T	11: 79,392,545 (GRCm39)		probably benign	Het
Or10v9	T	C	19: 11,832,835 (GRCm39)	T161A	probably damaging	Het
Or14j5	T	C	17: 38,161,839 (GRCm39)	S119P	probably damaging	Het
Or2y17	A	G	11: 49,231,539 (GRCm39)	Y60C	probably damaging	Het
Or8k16	T	A	2: 85,519,950 (GRCm39)	M59K	probably damaging	Het
P2ry2	G	T	7: 100,648,058 (GRCm39)	Y82*	probably null	Het
Pcdh1	T	C	18: 38,335,895 (GRCm39)	T247A	possibly damaging	Het
Pecr	A	T	1: 72,314,136 (GRCm39)		probably null	Het
Pgm3	A	G	9: 86,447,743 (GRCm39)	Y167H	possibly damaging	Het
Pramel15	A	T	4: 144,103,485 (GRCm39)	C214S	probably benign	Het
Prmt2	T	C	10: 76,058,302 (GRCm39)	H169R	probably benign	Het
Rad51ap2	T	A	12: 11,506,251 (GRCm39)	S58T	possibly damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Slc6a15	T	C	10: 103,230,925 (GRCm39)	S217P	probably benign	Het
Slco1a8	C	A	6: 141,939,363 (GRCm39)		probably null	Het
Snx27	G	A	3: 94,426,416 (GRCm39)	T361I	probably damaging	Het
St7l	A	G	3: 104,775,363 (GRCm39)	T80A	probably damaging	Het
Stk32b	T	A	5: 37,689,031 (GRCm39)	M98L	possibly damaging	Het
Tonsl	C	A	15: 76,508,350 (GRCm39)	A6S	possibly damaging	Het
Tpx2	A	G	2: 152,711,611 (GRCm39)	R49G	probably benign	Het
Trmt2a	A	G	16: 18,067,758 (GRCm39)	K144E	possibly damaging	Het
Trpm7	A	C	2: 126,654,697 (GRCm39)	L1414V	probably benign	Het
Ugdh	T	C	5: 65,580,939 (GRCm39)	K107E	possibly damaging	Het
Vamp3	A	T	4: 151,135,366 (GRCm39)		probably benign	Het
Vmn1r172	T	C	7: 23,359,651 (GRCm39)	S179P	probably damaging	Het
Vmn1r28	A	G	6: 58,242,963 (GRCm39)	M269V	probably benign	Het
Vmn2r94	T	C	17: 18,464,476 (GRCm39)	T605A	probably benign	Het
Vwce	A	G	19: 10,615,520 (GRCm39)	T134A	possibly damaging	Het
Zfp277	T	C	12: 40,495,745 (GRCm39)	E5G	probably benign	Het

Other mutations in Nlrp4d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00981:Nlrp4d	APN	7	10,116,021 (GRCm39)	exon	noncoding transcript
IGL01076:Nlrp4d	APN	7	10,106,010 (GRCm39)	missense	unknown	0.00
IGL01656:Nlrp4d	APN	7	10,098,074 (GRCm39)	missense	noncoding transcript
IGL01889:Nlrp4d	APN	7	10,112,261 (GRCm39)	missense	unknown	0.00
IGL02110:Nlrp4d	APN	7	10,116,491 (GRCm39)	exon	noncoding transcript
IGL02271:Nlrp4d	APN	7	10,122,625 (GRCm39)	exon	noncoding transcript
IGL02637:Nlrp4d	APN	7	10,116,482 (GRCm39)	exon	noncoding transcript
snoop	UTSW	7	10,108,818 (GRCm39)	missense	probably benign	0.02
1mM(1):Nlrp4d	UTSW	7	10,115,640 (GRCm39)	missense	probably benign	0.09
F5493:Nlrp4d	UTSW	7	10,115,011 (GRCm39)	missense	possibly damaging	0.84
IGL03048:Nlrp4d	UTSW	7	10,092,881 (GRCm39)	unclassified	noncoding transcript
R0116:Nlrp4d	UTSW	7	10,108,818 (GRCm39)	missense	probably benign	0.02
R0125:Nlrp4d	UTSW	7	10,116,316 (GRCm39)	missense	probably damaging	1.00
R0390:Nlrp4d	UTSW	7	10,122,705 (GRCm39)	missense	probably benign	0.04
R0452:Nlrp4d	UTSW	7	10,112,219 (GRCm39)	missense	probably benign	0.01
R0595:Nlrp4d	UTSW	7	10,114,972 (GRCm39)	missense	probably benign	0.00
R0729:Nlrp4d	UTSW	7	10,111,612 (GRCm39)	critical splice donor site	probably benign
R0733:Nlrp4d	UTSW	7	10,116,449 (GRCm39)	missense	probably benign	0.02
R1147:Nlrp4d	UTSW	7	10,122,644 (GRCm39)	missense	probably benign	0.00
R1217:Nlrp4d	UTSW	7	10,098,194 (GRCm39)	missense	probably benign	0.36
R1378:Nlrp4d	UTSW	7	10,098,111 (GRCm39)	missense	probably benign	0.23
R1414:Nlrp4d	UTSW	7	10,116,528 (GRCm39)	missense	probably benign	0.22
R1583:Nlrp4d	UTSW	7	10,116,164 (GRCm39)	missense	probably damaging	0.99
R1585:Nlrp4d	UTSW	7	10,116,437 (GRCm39)	missense	probably benign	0.02
R2422:Nlrp4d	UTSW	7	10,096,872 (GRCm39)	missense	probably benign	0.29
R2907:Nlrp4d	UTSW	7	10,112,354 (GRCm39)	missense	probably benign	0.00
R2964:Nlrp4d	UTSW	7	10,112,256 (GRCm39)	nonsense	probably null
R2974:Nlrp4d	UTSW	7	10,112,367 (GRCm39)	critical splice acceptor site	probably benign
R3401:Nlrp4d	UTSW	7	10,096,781 (GRCm39)	missense	probably damaging	1.00
R3402:Nlrp4d	UTSW	7	10,096,781 (GRCm39)	missense	probably damaging	1.00
R4240:Nlrp4d	UTSW	7	10,115,243 (GRCm39)	missense	noncoding transcript
R4682:Nlrp4d	UTSW	7	10,108,879 (GRCm39)	missense	noncoding transcript
R4766:Nlrp4d	UTSW	7	10,096,706 (GRCm39)	critical splice donor site	unknown
R4864:Nlrp4d	UTSW	7	10,115,088 (GRCm39)	missense	noncoding transcript
R4910:Nlrp4d	UTSW	7	10,112,336 (GRCm39)	exon	noncoding transcript
R5307:Nlrp4d	UTSW	7	10,096,709 (GRCm39)	nonsense	probably null
R5596:Nlrp4d	UTSW	7	10,115,951 (GRCm39)	missense	noncoding transcript
R5857:Nlrp4d	UTSW	7	10,116,304 (GRCm39)	missense	noncoding transcript

Predicted Primers

PCR Primer
(F):5'- CACGTGTGGCTTCATTTCAG -3'
(R):5'- TGGGCCCACAGCTTACAAAC -3'

Sequencing Primer
(F):5'- CAGTTCTCTTTGATAGGAAAAGGTC -3'
(R):5'- GAGTACCTGAGGTTAACTCCCAG -3'

Posted On

2014-06-30