Mutagenetix > Incidental Mutation

Incidental Mutation 'R9031:Nlrp9a'

687056

Institutional Source

Beutler Lab

Gene Symbol

Nlrp9a

Ensembl Gene

ENSMUSG00000054102

Gene Name

NLR family, pyrin domain containing 9A

Synonyms

Nalp9a, Nalp-theta, D7Ertd565e

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R9031 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26535023-26575615 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 26558273 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 439 (F439V)

Ref Sequence

ENSEMBL: ENSMUSP00000104024 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071780] [ENSMUST00000108387] [ENSMUST00000117252] [ENSMUST00000122040] [ENSMUST00000153452]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000071780
AA Change: F439V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071685
Gene: ENSMUSG00000054102
AA Change: F439V

Domain	Start	End	E-Value	Type
PYRIN	5	87	1.07e-25	SMART
Pfam:NACHT	143	311	1e-32	PFAM
LRR	637	664	1.42e0	SMART
LRR	693	720	2.32e-1	SMART
LRR	722	749	3e0	SMART
LRR	750	777	1.12e-3	SMART
LRR	779	806	2.17e0	SMART
LRR	807	834	2.27e-4	SMART
LRR	836	863	2.02e2	SMART
LRR	864	891	6.24e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108387
AA Change: F439V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104024
Gene: ENSMUSG00000054102
AA Change: F439V

Domain	Start	End	E-Value	Type
PYRIN	5	87	1.07e-25	SMART
Pfam:NACHT	143	311	7.7e-33	PFAM
LRR	631	658	1.42e0	SMART
LRR	692	719	1.42e0	SMART
LRR	748	775	2.32e-1	SMART
LRR	777	804	3e0	SMART
LRR	805	832	1.12e-3	SMART
LRR	834	861	2.17e0	SMART
LRR	862	889	2.27e-4	SMART
LRR	891	918	2.02e2	SMART
LRR	919	946	6.24e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000117252
AA Change: F439V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112398
Gene: ENSMUSG00000054102
AA Change: F439V

Domain	Start	End	E-Value	Type
PYRIN	5	87	1.07e-25	SMART
Pfam:NACHT	143	311	8.8e-34	PFAM
LRR	637	664	1.42e0	SMART
Blast:LRR	666	692	1e-5	BLAST
LRR	693	720	2.32e-1	SMART
LRR	722	749	3e0	SMART
LRR	750	777	1.12e-3	SMART
LRR	779	806	2.39e0	SMART
LRR	807	834	6.24e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000122040
AA Change: F439V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113318
Gene: ENSMUSG00000054102
AA Change: F439V

Domain	Start	End	E-Value	Type
PYRIN	5	87	1.07e-25	SMART
Pfam:NACHT	143	311	1e-32	PFAM
LRR	637	664	1.42e0	SMART
LRR	693	720	2.32e-1	SMART
LRR	722	749	3e0	SMART
LRR	750	777	1.12e-3	SMART
LRR	779	806	2.17e0	SMART
LRR	807	834	2.27e-4	SMART
LRR	836	863	2.02e2	SMART
LRR	864	891	6.24e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000153452
AA Change: F350V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120498
Gene: ENSMUSG00000054102
AA Change: F350V

Domain	Start	End	E-Value	Type
Pfam:NACHT	54	222	6.9e-33	PFAM
LRR	542	569	1.42e0	SMART
LRR	603	630	1.42e0	SMART
Blast:LRR	632	657	1e-5	BLAST
LRR	659	686	2.32e-1	SMART
LRR	688	715	3e0	SMART
LRR	716	743	1.12e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (81/81)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,822,027	R921H	probably benign	Het
Adcy5	A	G	16: 35,299,489	I1123V	probably damaging	Het
Agr2	G	C	12: 35,995,566	G17A	probably benign	Het
Akap6	A	T	12: 53,142,048	T2082S	probably benign	Het
Asxl3	G	T	18: 22,524,344	V1804F	probably damaging	Het
Atat1	A	G	17: 35,909,489	V37A	probably benign	Het
Atp1a3	A	T	7: 24,989,787		probably null	Het
Bpifb1	A	G	2: 154,209,928	T218A	probably benign	Het
C030006K11Rik	T	A	15: 76,723,761	Q19L	probably benign	Het
Ccdc138	T	C	10: 58,545,071	F508S	probably damaging	Het
Ccdc81	T	A	7: 89,893,150	M173L	probably benign	Het
Cdhr1	T	C	14: 37,094,019	I141V	probably benign	Het
Chia1	T	C	3: 106,128,461	F206L	probably benign	Het
Clca3a2	C	T	3: 144,805,714	G640E	probably damaging	Het
Clcn7	T	C	17: 25,157,523	V609A	probably damaging	Het
Col22a1	C	A	15: 71,881,674	G126*	probably null	Het
Cpne7	C	T	8: 123,130,212	P402L	probably damaging	Het
Ctcfl	A	T	2: 173,117,251	D227E	probably benign	Het
Cwf19l2	A	G	9: 3,417,942	D134G	probably benign	Het
Cyp2c65	C	A	19: 39,073,219	C216*	probably null	Het
Cyp2d12	T	A	15: 82,559,222	C462S	probably null	Het
Cyp4a12a	A	C	4: 115,332,002	*509Y	probably null	Het
Cyp4a12b	A	G	4: 115,433,668	M298V	probably benign	Het
Dennd4b	T	C	3: 90,270,881	V471A	probably benign	Het
Dlc1	A	G	8: 36,937,901	S245P	possibly damaging	Het
Dnah1	C	T	14: 31,279,171	G2406S	probably benign	Het
Dnah8	A	G	17: 30,737,427	K2127R	probably damaging	Het
Dusp13	G	A	14: 21,740,165	R38C	probably benign	Het
Ebf2	T	A	14: 67,235,145	I4N	probably benign	Het
Fcgbp	A	G	7: 28,091,483	N723S	possibly damaging	Het
Galnt15	T	A	14: 32,048,070	V368E	probably damaging	Het
Garem2	A	G	5: 30,108,264	E42G	possibly damaging	Het
Gcc1	C	T	6: 28,418,183	S717N	probably damaging	Het
Gfm2	T	C	13: 97,172,693		probably null	Het
Gm49333	C	T	16: 20,640,625	P570L	probably damaging	Het
Gpr1	T	C	1: 63,183,986	E30G	probably benign	Het
Helb	T	C	10: 120,084,885	D1051G	possibly damaging	Het
Helz2	T	A	2: 181,232,468	I2078F	possibly damaging	Het
Hsph1	A	T	5: 149,629,805	V297D	probably damaging	Het
Ifnar1	A	G	16: 91,505,191	Y518C	probably benign	Het
Kcnip2	T	A	19: 45,794,771	D153V	probably damaging	Het
Kif15	A	T	9: 123,017,427		probably benign	Het
Kif21b	T	C	1: 136,145,304	F147L	probably damaging	Het
Klhl29	T	C	12: 5,090,537	R702G	probably damaging	Het
Lemd3	C	T	10: 120,931,973	E667K	possibly damaging	Het
Loxl3	T	C	6: 83,035,522	L14P	probably damaging	Het
Lrrd1	A	T	5: 3,850,963	K423*	probably null	Het
Mia2	A	G	12: 59,108,800	D433G	probably damaging	Het
Mpp2	G	T	11: 102,063,273	A216E	probably benign	Het
Mro	T	C	18: 73,876,840		probably null	Het
Mybpc1	T	G	10: 88,523,044	Y1081S	probably damaging	Het
Myh8	T	G	11: 67,299,315	S1260R	possibly damaging	Het
Myo3b	T	C	2: 70,251,750	V618A	probably damaging	Het
Naip2	T	G	13: 100,178,268	D334A	possibly damaging	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Nlrp4c	T	C	7: 6,104,609	*983Q	probably null	Het
Nploc4	A	T	11: 120,428,542	L64H	probably damaging	Het
Ola1	T	C	2: 73,093,716	E246G	probably benign	Het
Otof	G	A	5: 30,380,188	S1259F	probably benign	Het
Pde4dip	T	C	3: 97,692,359	T2438A	probably damaging	Het
Pex1	A	G	5: 3,636,844	T1242A	probably damaging	Het
Pink1	A	T	4: 138,315,745		probably benign	Het
Prkcq	A	G	2: 11,247,008	T219A	probably damaging	Het
Ptcd3	A	T	6: 71,903,474	Y88*	probably null	Het
Ptpru	A	G	4: 131,788,380	Y888H	probably damaging	Het
Rapgef6	A	G	11: 54,687,841	N1063S	probably benign	Het
Slc1a4	G	A	11: 20,332,532		probably benign	Het
Slc4a4	T	C	5: 89,057,709		probably benign	Het
Slc6a18	A	T	13: 73,671,703	N249K	possibly damaging	Het
Slco2b1	T	G	7: 99,689,007	I104L	probably damaging	Het
Syne3	A	T	12: 104,939,612	S897R	probably benign	Het
Tcrg-V4	C	T	13: 19,184,999	Q7*	probably null	Het
Tmem136	C	T	9: 43,111,369	R230Q	probably benign	Het
Tnni3k	A	G	3: 155,038,509	S69P	probably damaging	Het
Tnpo2	A	G	8: 85,053,534	K700E	probably benign	Het
Top3a	T	C	11: 60,745,869	K657E	probably damaging	Het
Trim6	T	C	7: 104,225,952	L132P	probably damaging	Het
Tshz1	T	C	18: 84,014,862	T474A	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 116,068,172		probably benign	Het
Vmn1r179	A	T	7: 23,928,809	I142L	probably benign	Het
Zbtb2	A	T	10: 4,369,183	F281Y	probably damaging	Het
Zfp318	T	C	17: 46,412,507	V1812A	probably benign	Het

Other mutations in Nlrp9a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00659:Nlrp9a	APN	7	26557625	missense	probably benign	0.22
IGL00895:Nlrp9a	APN	7	26558678	missense	probably benign
IGL01081:Nlrp9a	APN	7	26558094	missense	possibly damaging	0.51
IGL01148:Nlrp9a	APN	7	26557581	missense	probably damaging	1.00
IGL01368:Nlrp9a	APN	7	26557874	missense	probably damaging	1.00
IGL01914:Nlrp9a	APN	7	26557264	missense	probably benign	0.01
IGL01952:Nlrp9a	APN	7	26558019	missense	probably benign	0.01
IGL02245:Nlrp9a	APN	7	26557893	missense	probably benign	0.02
IGL02449:Nlrp9a	APN	7	26564971	missense	probably benign	0.00
IGL02702:Nlrp9a	APN	7	26564956	missense	possibly damaging	0.67
IGL02944:Nlrp9a	APN	7	26558651	missense	probably benign	0.28
IGL03183:Nlrp9a	APN	7	26557457	missense	probably damaging	1.00
R0005:Nlrp9a	UTSW	7	26573788	splice site	probably benign
R0007:Nlrp9a	UTSW	7	26551090	intron	probably benign
R0007:Nlrp9a	UTSW	7	26551090	intron	probably benign
R0013:Nlrp9a	UTSW	7	26571225	splice site	probably null
R0086:Nlrp9a	UTSW	7	26558547	missense	probably damaging	0.98
R0659:Nlrp9a	UTSW	7	26557278	missense	probably damaging	1.00
R1126:Nlrp9a	UTSW	7	26560741	missense	probably benign	0.12
R1500:Nlrp9a	UTSW	7	26567891	missense	probably benign	0.01
R1585:Nlrp9a	UTSW	7	26558668	missense	probably benign	0.41
R1594:Nlrp9a	UTSW	7	26570507	nonsense	probably null
R1968:Nlrp9a	UTSW	7	26564941	missense	probably benign	0.23
R1989:Nlrp9a	UTSW	7	26573913	missense	probably benign	0.24
R2057:Nlrp9a	UTSW	7	26557362	missense	possibly damaging	0.55
R2058:Nlrp9a	UTSW	7	26557362	missense	possibly damaging	0.55
R2059:Nlrp9a	UTSW	7	26557362	missense	possibly damaging	0.55
R2188:Nlrp9a	UTSW	7	26564929	missense	probably damaging	1.00
R2318:Nlrp9a	UTSW	7	26573852	missense	probably damaging	0.98
R3110:Nlrp9a	UTSW	7	26557872	missense	probably benign	0.08
R3112:Nlrp9a	UTSW	7	26557872	missense	probably benign	0.08
R3237:Nlrp9a	UTSW	7	26571385	nonsense	probably null
R3545:Nlrp9a	UTSW	7	26557332	missense	probably benign	0.03
R3805:Nlrp9a	UTSW	7	26564852	nonsense	probably null
R4005:Nlrp9a	UTSW	7	26558550	missense	probably benign	0.02
R4057:Nlrp9a	UTSW	7	26570646	missense	probably benign	0.00
R4529:Nlrp9a	UTSW	7	26571407	missense	probably damaging	1.00
R4756:Nlrp9a	UTSW	7	26557441	missense	probably damaging	1.00
R4908:Nlrp9a	UTSW	7	26550944	missense	probably damaging	1.00
R4972:Nlrp9a	UTSW	7	26570539	missense	probably damaging	1.00
R4992:Nlrp9a	UTSW	7	26557386	missense	probably benign	0.00
R5042:Nlrp9a	UTSW	7	26571278	missense	probably damaging	1.00
R5224:Nlrp9a	UTSW	7	26557292	missense	probably benign	0.43
R5449:Nlrp9a	UTSW	7	26557829	missense	probably benign	0.04
R5644:Nlrp9a	UTSW	7	26558568	missense	possibly damaging	0.51
R5734:Nlrp9a	UTSW	7	26570640	missense	probably damaging	1.00
R5905:Nlrp9a	UTSW	7	26558337	missense	probably benign	0.02
R5978:Nlrp9a	UTSW	7	26557278	missense	probably damaging	1.00
R6028:Nlrp9a	UTSW	7	26558337	missense	probably benign	0.02
R6066:Nlrp9a	UTSW	7	26558085	missense	probably benign	0.00
R6082:Nlrp9a	UTSW	7	26567977	missense	probably benign	0.41
R6171:Nlrp9a	UTSW	7	26558763	missense	possibly damaging	0.71
R6352:Nlrp9a	UTSW	7	26557626	missense	probably damaging	1.00
R6490:Nlrp9a	UTSW	7	26550886	missense	probably damaging	1.00
R6540:Nlrp9a	UTSW	7	26557392	missense	possibly damaging	0.88
R7039:Nlrp9a	UTSW	7	26567942	missense	probably benign	0.03
R7151:Nlrp9a	UTSW	7	26557247	nonsense	probably null
R7173:Nlrp9a	UTSW	7	26558178	missense	probably benign	0.00
R7214:Nlrp9a	UTSW	7	26551038	missense	probably damaging	0.98
R7226:Nlrp9a	UTSW	7	26558724	missense	probably benign	0.02
R7250:Nlrp9a	UTSW	7	26558718	missense	possibly damaging	0.78
R7293:Nlrp9a	UTSW	7	26571269	missense	probably damaging	1.00
R7492:Nlrp9a	UTSW	7	26557656	missense	probably damaging	0.99
R7586:Nlrp9a	UTSW	7	26557296	missense	possibly damaging	0.83
R7844:Nlrp9a	UTSW	7	26562581	missense	possibly damaging	0.82
R8073:Nlrp9a	UTSW	7	26560835	missense	probably damaging	0.98
R8136:Nlrp9a	UTSW	7	26557253	missense	probably benign	0.34
R8400:Nlrp9a	UTSW	7	26565006	missense	probably benign	0.02
R8415:Nlrp9a	UTSW	7	26557500	missense	probably benign
R8774:Nlrp9a	UTSW	7	26558559	missense	possibly damaging	0.95
R8774-TAIL:Nlrp9a	UTSW	7	26558559	missense	possibly damaging	0.95
R8882:Nlrp9a	UTSW	7	26558278	nonsense	probably null
R9023:Nlrp9a	UTSW	7	26573866	missense	possibly damaging	0.62
R9063:Nlrp9a	UTSW	7	26573866	missense	possibly damaging	0.62
R9090:Nlrp9a	UTSW	7	26562519	missense	probably benign
R9196:Nlrp9a	UTSW	7	26558733	missense	probably damaging	1.00
R9206:Nlrp9a	UTSW	7	26558231	missense	possibly damaging	0.91
R9265:Nlrp9a	UTSW	7	26558613	missense	possibly damaging	0.67
R9271:Nlrp9a	UTSW	7	26562519	missense	probably benign
R9384:Nlrp9a	UTSW	7	26558733	missense	probably damaging	1.00
R9402:Nlrp9a	UTSW	7	26570605	missense	possibly damaging	0.81
R9424:Nlrp9a	UTSW	7	26560753	missense	probably benign	0.13
R9620:Nlrp9a	UTSW	7	26551044	missense	probably damaging	1.00
R9660:Nlrp9a	UTSW	7	26557490	missense	probably damaging	1.00
R9696:Nlrp9a	UTSW	7	26575608	missense	unknown
R9728:Nlrp9a	UTSW	7	26557490	missense	probably damaging	1.00
R9744:Nlrp9a	UTSW	7	26567841	missense	probably benign	0.07
R9794:Nlrp9a	UTSW	7	26564877	missense	probably benign	0.03
Z1176:Nlrp9a	UTSW	7	26558229	missense	probably damaging	1.00
Z1177:Nlrp9a	UTSW	7	26557456	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTAAACAGAACAGGGCCCG -3'
(R):5'- TTACCTCCTTGGATGATATACAGC -3'

Sequencing Primer
(F):5'- GTATAAGGACCCTATGCACCTTGG -3'
(R):5'- CAAGGAGTTAACTTGCTCAGTGGC -3'

Posted On

2021-11-19