Mutagenetix > Incidental Mutation

Incidental Mutation 'R4690:Nlrp4b'

354842

Institutional Source

Beutler Lab

Gene Symbol

Nlrp4b

Ensembl Gene

ENSMUSG00000034087

Gene Name

NLR family, pyrin domain containing 4B

Synonyms

Nalp4b, Nalp-gamma

MMRRC Submission

041941-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R4690 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10421720-10464095 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10453130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 76 (Y76N)

Ref Sequence

ENSEMBL: ENSMUSP00000148004 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047809] [ENSMUST00000117413] [ENSMUST00000132990] [ENSMUST00000211069]

AlphaFold

Q8C6J9

Predicted Effect

probably benign
Transcript: ENSMUST00000047809
AA Change: Y690N

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

SMART Domains

Protein: ENSMUSP00000043881
Gene: ENSMUSG00000034087
AA Change: Y690N

Domain	Start	End	E-Value	Type
PYRIN	6	89	1.4e-20	SMART
Pfam:NACHT	143	312	7.9e-40	PFAM
low complexity region	520	535	N/A	INTRINSIC
LRR	683	710	4.9e0	SMART
LRR	712	739	1.97e0	SMART
LRR	740	767	1.13e-4	SMART
LRR	769	796	1.93e1	SMART
LRR	797	824	1.73e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117413
AA Change: Y690N

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

SMART Domains

Protein: ENSMUSP00000113095
Gene: ENSMUSG00000034087
AA Change: Y690N

Domain	Start	End	E-Value	Type
PYRIN	6	89	1.4e-20	SMART
Pfam:NACHT	143	312	3.3e-39	PFAM
low complexity region	520	535	N/A	INTRINSIC
LRR	683	710	4.9e0	SMART
LRR	712	739	1.97e0	SMART
LRR	740	767	1.13e-4	SMART
LRR	769	796	1.93e1	SMART
LRR	797	824	1.73e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132990
AA Change: Y323N

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

SMART Domains

Protein: ENSMUSP00000115831
Gene: ENSMUSG00000034087
AA Change: Y323N

Domain	Start	End	E-Value	Type
low complexity region	153	168	N/A	INTRINSIC
LRR	316	343	4.9e0	SMART
LRR	345	372	1.97e0	SMART
LRR	373	400	1.13e-4	SMART
LRR	402	429	1.93e1	SMART
LRR	430	457	1.73e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000211069
AA Change: Y76N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000211258

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211772

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

98% (89/91)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,039,706 (GRCm39)	F436L	probably damaging	Het
Adam28	G	T	14: 68,879,497 (GRCm39)	Q184K	probably benign	Het
Adh6a	A	G	3: 138,031,932 (GRCm39)	T275A	possibly damaging	Het
Agap2	A	G	10: 126,927,244 (GRCm39)	D1082G	possibly damaging	Het
Alox5	A	T	6: 116,400,150 (GRCm39)	V263E	probably damaging	Het
Arhgef16	C	T	4: 154,372,420 (GRCm39)		probably null	Het
Bspry	G	A	4: 62,404,762 (GRCm39)	R186Q	probably damaging	Het
Ccdc188	T	A	16: 18,036,159 (GRCm39)	H111Q	probably damaging	Het
Cd40	T	C	2: 164,911,615 (GRCm39)	F209S	possibly damaging	Het
Cfap43	C	A	19: 47,736,298 (GRCm39)	V1398L	probably benign	Het
Cln3	A	T	7: 126,174,565 (GRCm39)	I286N	possibly damaging	Het
Col9a1	T	C	1: 24,263,787 (GRCm39)		probably null	Het
Cpne9	A	G	6: 113,279,016 (GRCm39)	E470G	probably damaging	Het
Cul5	A	T	9: 53,534,171 (GRCm39)	W654R	probably damaging	Het
Cyp2a22	T	A	7: 26,638,634 (GRCm39)	K51*	probably null	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Dot1l	C	A	10: 80,622,016 (GRCm39)	S556*	probably null	Het
Eif3d	A	T	15: 77,851,516 (GRCm39)	M98K	probably benign	Het
Fiz1	A	G	7: 5,012,167 (GRCm39)	V117A	probably benign	Het
Fryl	A	G	5: 73,257,636 (GRCm39)	V722A	probably benign	Het
Ftdc1	G	A	16: 58,434,333 (GRCm39)	T128I	probably benign	Het
Gm3095	G	T	14: 3,964,471 (GRCm38)	R63I	probably benign	Het
Gm7133	A	T	1: 97,197,224 (GRCm39)		noncoding transcript	Het
Hoxb8	A	T	11: 96,175,286 (GRCm39)	D241V	probably benign	Het
Hrnr	A	G	3: 93,230,959 (GRCm39)	Q399R	unknown	Het
Itpk1	A	T	12: 102,572,434 (GRCm39)	V93D	probably damaging	Het
Kars1	C	T	8: 112,729,216 (GRCm39)	A164T	probably benign	Het
Kcnq4	A	T	4: 120,574,208 (GRCm39)	I150N	probably damaging	Het
Kcnrg	A	T	14: 61,849,176 (GRCm39)	L212F	probably damaging	Het
Kif5b	A	T	18: 6,216,759 (GRCm39)	D521E	probably benign	Het
Klf11	C	T	12: 24,705,071 (GRCm39)	T158M	probably damaging	Het
Klhl6	T	C	16: 19,776,034 (GRCm39)	I175V	probably benign	Het
Lsm1	A	G	8: 26,283,708 (GRCm39)	N40S	probably damaging	Het
Map1b	T	C	13: 99,567,576 (GRCm39)	E1715G	unknown	Het
Mecom	C	A	3: 30,292,459 (GRCm39)	A4S	probably benign	Het
Muc5b	G	A	7: 141,396,031 (GRCm39)	V96M	unknown	Het
Mug2	A	T	6: 122,013,255 (GRCm39)	I341L	probably benign	Het
Mxra7	A	T	11: 116,707,078 (GRCm39)		probably null	Het
Myo5a	T	C	9: 75,061,105 (GRCm39)	L537P	probably damaging	Het
Myo5b	A	T	18: 74,855,533 (GRCm39)	N1241Y	probably damaging	Het
Naa16	T	C	14: 79,582,497 (GRCm39)	R531G	probably damaging	Het
Neb	T	A	2: 52,134,087 (GRCm39)	M3299L	probably benign	Het
Nmral1	T	C	16: 4,534,205 (GRCm39)	T79A	probably damaging	Het
Noct	C	T	3: 51,155,300 (GRCm39)	Q23*	probably null	Het
Nrxn1	A	T	17: 90,344,509 (GRCm39)	V438D	probably damaging	Het
Or5b109	A	C	19: 13,212,132 (GRCm39)	N173H	possibly damaging	Het
Or5m9	T	A	2: 85,877,242 (GRCm39)	C139S	probably damaging	Het
Oxct2a	T	C	4: 123,216,836 (GRCm39)	T182A	probably benign	Het
Pank2	T	C	2: 131,115,945 (GRCm39)	I121T	probably damaging	Het
Pcdh1	T	A	18: 38,336,528 (GRCm39)	T36S	probably benign	Het
Pfdn1	A	T	18: 36,584,133 (GRCm39)	M67K	possibly damaging	Het
Plec	T	C	15: 76,058,456 (GRCm39)	E3849G	probably damaging	Het
Polr3a	A	T	14: 24,514,349 (GRCm39)	S817T	possibly damaging	Het
Pomgnt1	T	A	4: 116,012,707 (GRCm39)	D401E	probably damaging	Het
Ppp1r13b	T	A	12: 111,798,992 (GRCm39)	D891V	probably damaging	Het
Prr14l	A	G	5: 33,001,500 (GRCm39)		probably benign	Het
Ptk2b	A	G	14: 66,410,749 (GRCm39)		probably null	Het
Rab13	G	C	3: 90,128,330 (GRCm39)		probably null	Het
Rexo1	C	T	10: 80,382,255 (GRCm39)	A751T	probably benign	Het
Rfx1	T	C	8: 84,809,374 (GRCm39)	V233A	possibly damaging	Het
Rnf149	C	T	1: 39,616,295 (GRCm39)		probably benign	Het
Rrm1	A	G	7: 102,097,086 (GRCm39)	D122G	probably benign	Het
Serpina1b	A	G	12: 103,698,639 (GRCm39)	F70S	probably damaging	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Sh3rf3	T	C	10: 58,649,526 (GRCm39)	S44P	possibly damaging	Het
Shroom1	A	G	11: 53,356,549 (GRCm39)	T471A	possibly damaging	Het
Slc6a1	A	G	6: 114,279,792 (GRCm39)	Y152C	probably damaging	Het
Spata31f3	T	A	4: 42,873,032 (GRCm39)		probably null	Het
Spata6	A	T	4: 111,632,023 (GRCm39)	T145S	probably damaging	Het
Srcap	G	A	7: 127,137,186 (GRCm39)	G956D	probably damaging	Het
Ssh2	A	T	11: 77,346,031 (GRCm39)	I1339F	possibly damaging	Het
Tardbp	A	T	4: 148,697,078 (GRCm39)	*99K	probably null	Het
Tbc1d22a	A	G	15: 86,196,037 (GRCm39)	Y336C	probably damaging	Het
Tmcc3	G	A	10: 94,381,419 (GRCm39)		probably benign	Het
Tmem178b	T	G	6: 40,222,547 (GRCm39)	D87E	probably benign	Het
Tmem184a	A	C	5: 139,791,377 (GRCm39)	S380A	probably benign	Het
Tnfaip2	A	G	12: 111,411,682 (GRCm39)	K84R	possibly damaging	Het
Tpgs1	A	G	10: 79,511,235 (GRCm39)	T126A	probably benign	Het
Traf3ip1	A	G	1: 91,447,834 (GRCm39)	E437G	possibly damaging	Het
Trpc4ap	C	T	2: 155,477,053 (GRCm39)	C755Y	probably damaging	Het
Tsfm	A	G	10: 126,866,547 (GRCm39)		probably benign	Het
Tulp1	A	C	17: 28,570,811 (GRCm39)		probably benign	Het
Vmn1r23	A	T	6: 57,903,010 (GRCm39)	M256K	probably benign	Het
Zdhhc8	T	C	16: 18,044,605 (GRCm39)	D305G	probably damaging	Het
Zfp326	G	A	5: 106,054,942 (GRCm39)	R282H	probably damaging	Het

Other mutations in Nlrp4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Nlrp4b	APN	7	10,448,882 (GRCm39)	missense	possibly damaging	0.68
IGL01456:Nlrp4b	APN	7	10,448,150 (GRCm39)	missense	probably benign	0.26
IGL01537:Nlrp4b	APN	7	10,448,918 (GRCm39)	missense	probably damaging	1.00
IGL02539:Nlrp4b	APN	7	10,448,355 (GRCm39)	missense	probably damaging	0.96
IGL02730:Nlrp4b	APN	7	10,448,685 (GRCm39)	missense	probably damaging	1.00
IGL02871:Nlrp4b	APN	7	10,449,192 (GRCm39)	missense	probably benign	0.26
IGL03008:Nlrp4b	APN	7	10,448,516 (GRCm39)	missense	probably benign	0.00
IGL03109:Nlrp4b	APN	7	10,448,873 (GRCm39)	missense	probably damaging	1.00
IGL03251:Nlrp4b	APN	7	10,448,427 (GRCm39)	missense	probably benign	0.01
IGL03354:Nlrp4b	APN	7	10,448,465 (GRCm39)	missense	probably damaging	0.99
R0052:Nlrp4b	UTSW	7	10,459,889 (GRCm39)	nonsense	probably null
R0348:Nlrp4b	UTSW	7	10,449,108 (GRCm39)	missense	possibly damaging	0.60
R0564:Nlrp4b	UTSW	7	10,448,585 (GRCm39)	missense	probably benign	0.15
R0573:Nlrp4b	UTSW	7	10,448,142 (GRCm39)	missense	probably benign	0.01
R0581:Nlrp4b	UTSW	7	10,448,457 (GRCm39)	missense	probably damaging	1.00
R1201:Nlrp4b	UTSW	7	10,449,363 (GRCm39)	missense	possibly damaging	0.64
R1541:Nlrp4b	UTSW	7	10,458,979 (GRCm39)	missense	possibly damaging	0.91
R1771:Nlrp4b	UTSW	7	10,452,520 (GRCm39)	missense	probably damaging	0.96
R1781:Nlrp4b	UTSW	7	10,449,266 (GRCm39)	missense	probably benign	0.13
R1833:Nlrp4b	UTSW	7	10,459,863 (GRCm39)	missense	probably benign	0.00
R2405:Nlrp4b	UTSW	7	10,448,655 (GRCm39)	missense	probably benign	0.08
R2871:Nlrp4b	UTSW	7	10,444,170 (GRCm39)	nonsense	probably null
R2871:Nlrp4b	UTSW	7	10,444,170 (GRCm39)	nonsense	probably null
R2873:Nlrp4b	UTSW	7	10,444,170 (GRCm39)	nonsense	probably null
R2904:Nlrp4b	UTSW	7	10,448,294 (GRCm39)	missense	probably damaging	1.00
R3410:Nlrp4b	UTSW	7	10,449,456 (GRCm39)	missense	probably damaging	1.00
R3714:Nlrp4b	UTSW	7	10,448,808 (GRCm39)	missense	probably benign	0.04
R3982:Nlrp4b	UTSW	7	10,448,358 (GRCm39)	missense	possibly damaging	0.95
R4668:Nlrp4b	UTSW	7	10,448,660 (GRCm39)	missense	possibly damaging	0.66
R4857:Nlrp4b	UTSW	7	10,449,225 (GRCm39)	missense	probably benign	0.05
R5247:Nlrp4b	UTSW	7	10,448,145 (GRCm39)	missense	probably benign	0.21
R5381:Nlrp4b	UTSW	7	10,449,172 (GRCm39)	nonsense	probably null
R5529:Nlrp4b	UTSW	7	10,448,873 (GRCm39)	missense	possibly damaging	0.91
R5589:Nlrp4b	UTSW	7	10,449,512 (GRCm39)	missense	probably benign	0.34
R5770:Nlrp4b	UTSW	7	10,449,414 (GRCm39)	missense	probably benign	0.00
R5990:Nlrp4b	UTSW	7	10,448,418 (GRCm39)	missense	possibly damaging	0.61
R6049:Nlrp4b	UTSW	7	10,448,640 (GRCm39)	nonsense	probably null
R6329:Nlrp4b	UTSW	7	10,458,847 (GRCm39)	missense	probably benign	0.16
R6377:Nlrp4b	UTSW	7	10,449,339 (GRCm39)	missense	probably benign	0.00
R7107:Nlrp4b	UTSW	7	10,449,144 (GRCm39)	missense	probably damaging	0.96
R7209:Nlrp4b	UTSW	7	10,444,297 (GRCm39)	missense	probably benign	0.01
R7237:Nlrp4b	UTSW	7	10,449,143 (GRCm39)	missense	probably benign	0.12
R7537:Nlrp4b	UTSW	7	10,448,816 (GRCm39)	missense	probably benign	0.05
R7793:Nlrp4b	UTSW	7	10,459,001 (GRCm39)	missense	probably benign	0.00
R8138:Nlrp4b	UTSW	7	10,449,458 (GRCm39)	missense	probably benign	0.01
R8190:Nlrp4b	UTSW	7	10,448,319 (GRCm39)	missense	probably damaging	0.96
R8326:Nlrp4b	UTSW	7	10,452,471 (GRCm39)	missense	probably benign	0.05
R8353:Nlrp4b	UTSW	7	10,449,528 (GRCm39)	missense	probably damaging	0.99
R8417:Nlrp4b	UTSW	7	10,459,880 (GRCm39)	nonsense	probably null
R8453:Nlrp4b	UTSW	7	10,449,528 (GRCm39)	missense	probably damaging	0.99
R8998:Nlrp4b	UTSW	7	10,449,629 (GRCm39)	missense	probably null	0.00
R9002:Nlrp4b	UTSW	7	10,448,886 (GRCm39)	missense	probably damaging	1.00
R9072:Nlrp4b	UTSW	7	10,459,870 (GRCm39)	missense	probably benign	0.02
R9073:Nlrp4b	UTSW	7	10,459,870 (GRCm39)	missense	probably benign	0.02
R9258:Nlrp4b	UTSW	7	10,444,087 (GRCm39)	missense	probably damaging	1.00
R9373:Nlrp4b	UTSW	7	10,449,126 (GRCm39)	missense	probably benign	0.01
R9525:Nlrp4b	UTSW	7	10,448,748 (GRCm39)	missense	probably damaging	0.99
R9604:Nlrp4b	UTSW	7	10,444,295 (GRCm39)	missense	probably benign	0.00
R9670:Nlrp4b	UTSW	7	10,448,651 (GRCm39)	missense	probably benign	0.11
R9679:Nlrp4b	UTSW	7	10,449,184 (GRCm39)	missense	probably benign	0.00
X0063:Nlrp4b	UTSW	7	10,463,514 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AACCAATGAGCTTTGTTACTGGG -3'
(R):5'- TGGCCCATAAGCTGAAATTTTG -3'

Sequencing Primer
(F):5'- GGTTACAAAATTAGAGTGATGTTGCC -3'
(R):5'- GGCCCATAAGCTGAAATTTTGAATCC -3'

Posted On

2015-10-21