Mutagenetix > Incidental Mutation

Incidental Mutation 'R6171:Nlrp9a'

490439

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

044314-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R6171 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26234448-26273573 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26258188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 602 (I602T)

Ref Sequence

ENSEMBL: ENSMUSP00000113318 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071780
AA Change: I602T

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000071685
Gene: ENSMUSG00000054102
AA Change: I602T

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

possibly damaging
Transcript: ENSMUST00000108387
AA Change: I602T

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104024
Gene: ENSMUSG00000054102
AA Change: I602T

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 benign
Transcript: ENSMUST00000117252
AA Change: I602T

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000112398
Gene: ENSMUSG00000054102
AA Change: I602T

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

possibly damaging
Transcript: ENSMUST00000122040
AA Change: I602T

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113318
Gene: ENSMUSG00000054102
AA Change: I602T

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

noncoding transcript
Transcript: ENSMUST00000143149

Predicted Effect

probably benign
Transcript: ENSMUST00000153452
AA Change: I513T

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000120498
Gene: ENSMUSG00000054102
AA Change: I513T

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

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprs	A	G	4: 126,211,110 (GRCm39)	V269A	probably damaging	Het
Atp11a	T	A	8: 12,882,663 (GRCm39)	V517D	probably damaging	Het
Atr	C	T	9: 95,763,324 (GRCm39)	Q1073*	probably null	Het
C87436	A	C	6: 86,422,449 (GRCm39)	T8P	probably benign	Het
Clasrp	T	C	7: 19,318,747 (GRCm39)		probably benign	Het
Creb3l1	G	T	2: 91,821,614 (GRCm39)	Q254K	probably damaging	Het
Dapl1	C	A	2: 59,326,946 (GRCm39)	T64K	probably benign	Het
Dnah2	A	T	11: 69,313,868 (GRCm39)	L4168Q	probably damaging	Het
Dnttip2	T	A	3: 122,072,511 (GRCm39)	I597N	probably damaging	Het
Dyrk1b	A	T	7: 27,885,975 (GRCm39)		probably null	Het
Elk3	G	T	10: 93,085,906 (GRCm39)	P132Q	probably damaging	Het
Galt	C	T	4: 41,757,541 (GRCm39)	P238S	probably damaging	Het
Gm10322	T	C	10: 59,452,084 (GRCm39)	V67A	possibly damaging	Het
Ice1	T	C	13: 70,754,850 (GRCm39)	Y412C	probably benign	Het
Kcna1	A	T	6: 126,619,286 (GRCm39)	Y345N	probably damaging	Het
Kif1b	T	C	4: 149,342,505 (GRCm39)	Y419C	probably damaging	Het
Klf15	G	T	6: 90,443,601 (GRCm39)	A59S	possibly damaging	Het
Mettl17	T	A	14: 52,126,236 (GRCm39)	Y162N	probably damaging	Het
Myh10	G	A	11: 68,682,716 (GRCm39)	R1050Q	probably damaging	Het
Nek4	T	C	14: 30,692,304 (GRCm39)	V376A	probably benign	Het
Nemp1	T	A	10: 127,525,319 (GRCm39)		probably null	Het
Nphp4	T	C	4: 152,628,906 (GRCm39)	V764A	probably damaging	Het
Or12e1	T	A	2: 87,022,709 (GRCm39)	V226E	possibly damaging	Het
Or8c17	C	T	9: 38,179,898 (GRCm39)	Q22*	probably null	Het
Osbp2	A	T	11: 3,667,221 (GRCm39)		probably null	Het
Pax2	A	G	19: 44,779,179 (GRCm39)	Y185C	probably damaging	Het
Pdyn	A	T	2: 129,530,268 (GRCm39)	S134T	possibly damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Ppp1r13l	A	G	7: 19,111,436 (GRCm39)	M754V	probably benign	Het
Prr23a3	T	A	9: 98,747,731 (GRCm39)	N228K	probably benign	Het
Psmd12	T	C	11: 107,382,733 (GRCm39)	F213L	probably damaging	Het
Qser1	A	T	2: 104,619,628 (GRCm39)	S395T	probably damaging	Het
Rab7b	A	G	1: 131,626,372 (GRCm39)		probably null	Het
Rev3l	T	A	10: 39,738,709 (GRCm39)	L2821*	probably null	Het
Rplp0	A	G	5: 115,699,219 (GRCm39)	N127S	probably benign	Het
Serpina9	G	T	12: 103,974,678 (GRCm39)	Y158*	probably null	Het
Sis	G	A	3: 72,868,360 (GRCm39)	T110M	possibly damaging	Het
Slc43a2	A	G	11: 75,453,876 (GRCm39)	Y263C	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Stard13	A	T	5: 151,016,227 (GRCm39)	V88E	probably damaging	Het
Trim29	G	A	9: 43,230,674 (GRCm39)	E286K	probably damaging	Het
Vmn2r24	T	C	6: 123,764,205 (GRCm39)	S361P	probably damaging	Het
Wnk2	T	C	13: 49,214,308 (GRCm39)	T18A	probably damaging	Het
Xylb	C	T	9: 119,210,657 (GRCm39)	T380M	probably damaging	Het
Zbtb5	T	C	4: 44,994,119 (GRCm39)	T422A	probably benign	Het
Zhx2	A	G	15: 57,686,602 (GRCm39)	E657G	probably damaging	Het

Other mutations in Nlrp9a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00659:Nlrp9a	APN	7	26,257,050 (GRCm39)	missense	probably benign	0.22
IGL00895:Nlrp9a	APN	7	26,258,103 (GRCm39)	missense	probably benign
IGL01081:Nlrp9a	APN	7	26,257,519 (GRCm39)	missense	possibly damaging	0.51
IGL01148:Nlrp9a	APN	7	26,257,006 (GRCm39)	missense	probably damaging	1.00
IGL01368:Nlrp9a	APN	7	26,257,299 (GRCm39)	missense	probably damaging	1.00
IGL01914:Nlrp9a	APN	7	26,256,689 (GRCm39)	missense	probably benign	0.01
IGL01952:Nlrp9a	APN	7	26,257,444 (GRCm39)	missense	probably benign	0.01
IGL02245:Nlrp9a	APN	7	26,257,318 (GRCm39)	missense	probably benign	0.02
IGL02449:Nlrp9a	APN	7	26,264,396 (GRCm39)	missense	probably benign	0.00
IGL02702:Nlrp9a	APN	7	26,264,381 (GRCm39)	missense	possibly damaging	0.67
IGL02944:Nlrp9a	APN	7	26,258,076 (GRCm39)	missense	probably benign	0.28
IGL03183:Nlrp9a	APN	7	26,256,882 (GRCm39)	missense	probably damaging	1.00
R0005:Nlrp9a	UTSW	7	26,273,213 (GRCm39)	splice site	probably benign
R0007:Nlrp9a	UTSW	7	26,250,515 (GRCm39)	intron	probably benign
R0007:Nlrp9a	UTSW	7	26,250,515 (GRCm39)	intron	probably benign
R0013:Nlrp9a	UTSW	7	26,270,650 (GRCm39)	splice site	probably null
R0086:Nlrp9a	UTSW	7	26,257,972 (GRCm39)	missense	probably damaging	0.98
R0659:Nlrp9a	UTSW	7	26,256,703 (GRCm39)	missense	probably damaging	1.00
R1126:Nlrp9a	UTSW	7	26,260,166 (GRCm39)	missense	probably benign	0.12
R1500:Nlrp9a	UTSW	7	26,267,316 (GRCm39)	missense	probably benign	0.01
R1585:Nlrp9a	UTSW	7	26,258,093 (GRCm39)	missense	probably benign	0.41
R1594:Nlrp9a	UTSW	7	26,269,932 (GRCm39)	nonsense	probably null
R1968:Nlrp9a	UTSW	7	26,264,366 (GRCm39)	missense	probably benign	0.23
R1989:Nlrp9a	UTSW	7	26,273,338 (GRCm39)	missense	probably benign	0.24
R2057:Nlrp9a	UTSW	7	26,256,787 (GRCm39)	missense	possibly damaging	0.55
R2058:Nlrp9a	UTSW	7	26,256,787 (GRCm39)	missense	possibly damaging	0.55
R2059:Nlrp9a	UTSW	7	26,256,787 (GRCm39)	missense	possibly damaging	0.55
R2188:Nlrp9a	UTSW	7	26,264,354 (GRCm39)	missense	probably damaging	1.00
R2318:Nlrp9a	UTSW	7	26,273,277 (GRCm39)	missense	probably damaging	0.98
R3110:Nlrp9a	UTSW	7	26,257,297 (GRCm39)	missense	probably benign	0.08
R3112:Nlrp9a	UTSW	7	26,257,297 (GRCm39)	missense	probably benign	0.08
R3237:Nlrp9a	UTSW	7	26,270,810 (GRCm39)	nonsense	probably null
R3545:Nlrp9a	UTSW	7	26,256,757 (GRCm39)	missense	probably benign	0.03
R3805:Nlrp9a	UTSW	7	26,264,277 (GRCm39)	nonsense	probably null
R4005:Nlrp9a	UTSW	7	26,257,975 (GRCm39)	missense	probably benign	0.02
R4057:Nlrp9a	UTSW	7	26,270,071 (GRCm39)	missense	probably benign	0.00
R4529:Nlrp9a	UTSW	7	26,270,832 (GRCm39)	missense	probably damaging	1.00
R4756:Nlrp9a	UTSW	7	26,256,866 (GRCm39)	missense	probably damaging	1.00
R4908:Nlrp9a	UTSW	7	26,250,369 (GRCm39)	missense	probably damaging	1.00
R4972:Nlrp9a	UTSW	7	26,269,964 (GRCm39)	missense	probably damaging	1.00
R4992:Nlrp9a	UTSW	7	26,256,811 (GRCm39)	missense	probably benign	0.00
R5042:Nlrp9a	UTSW	7	26,270,703 (GRCm39)	missense	probably damaging	1.00
R5224:Nlrp9a	UTSW	7	26,256,717 (GRCm39)	missense	probably benign	0.43
R5449:Nlrp9a	UTSW	7	26,257,254 (GRCm39)	missense	probably benign	0.04
R5644:Nlrp9a	UTSW	7	26,257,993 (GRCm39)	missense	possibly damaging	0.51
R5734:Nlrp9a	UTSW	7	26,270,065 (GRCm39)	missense	probably damaging	1.00
R5905:Nlrp9a	UTSW	7	26,257,762 (GRCm39)	missense	probably benign	0.02
R5978:Nlrp9a	UTSW	7	26,256,703 (GRCm39)	missense	probably damaging	1.00
R6028:Nlrp9a	UTSW	7	26,257,762 (GRCm39)	missense	probably benign	0.02
R6066:Nlrp9a	UTSW	7	26,257,510 (GRCm39)	missense	probably benign	0.00
R6082:Nlrp9a	UTSW	7	26,267,402 (GRCm39)	missense	probably benign	0.41
R6352:Nlrp9a	UTSW	7	26,257,051 (GRCm39)	missense	probably damaging	1.00
R6490:Nlrp9a	UTSW	7	26,250,311 (GRCm39)	missense	probably damaging	1.00
R6540:Nlrp9a	UTSW	7	26,256,817 (GRCm39)	missense	possibly damaging	0.88
R7039:Nlrp9a	UTSW	7	26,267,367 (GRCm39)	missense	probably benign	0.03
R7151:Nlrp9a	UTSW	7	26,256,672 (GRCm39)	nonsense	probably null
R7173:Nlrp9a	UTSW	7	26,257,603 (GRCm39)	missense	probably benign	0.00
R7214:Nlrp9a	UTSW	7	26,250,463 (GRCm39)	missense	probably damaging	0.98
R7226:Nlrp9a	UTSW	7	26,258,149 (GRCm39)	missense	probably benign	0.02
R7250:Nlrp9a	UTSW	7	26,258,143 (GRCm39)	missense	possibly damaging	0.78
R7293:Nlrp9a	UTSW	7	26,270,694 (GRCm39)	missense	probably damaging	1.00
R7492:Nlrp9a	UTSW	7	26,257,081 (GRCm39)	missense	probably damaging	0.99
R7586:Nlrp9a	UTSW	7	26,256,721 (GRCm39)	missense	possibly damaging	0.83
R7844:Nlrp9a	UTSW	7	26,262,006 (GRCm39)	missense	possibly damaging	0.82
R8073:Nlrp9a	UTSW	7	26,260,260 (GRCm39)	missense	probably damaging	0.98
R8136:Nlrp9a	UTSW	7	26,256,678 (GRCm39)	missense	probably benign	0.34
R8400:Nlrp9a	UTSW	7	26,264,431 (GRCm39)	missense	probably benign	0.02
R8415:Nlrp9a	UTSW	7	26,256,925 (GRCm39)	missense	probably benign
R8774:Nlrp9a	UTSW	7	26,257,984 (GRCm39)	missense	possibly damaging	0.95
R8774-TAIL:Nlrp9a	UTSW	7	26,257,984 (GRCm39)	missense	possibly damaging	0.95
R8882:Nlrp9a	UTSW	7	26,257,703 (GRCm39)	nonsense	probably null
R9023:Nlrp9a	UTSW	7	26,273,291 (GRCm39)	missense	possibly damaging	0.62
R9031:Nlrp9a	UTSW	7	26,257,698 (GRCm39)	missense	probably damaging	1.00
R9063:Nlrp9a	UTSW	7	26,273,291 (GRCm39)	missense	possibly damaging	0.62
R9090:Nlrp9a	UTSW	7	26,261,944 (GRCm39)	missense	probably benign
R9196:Nlrp9a	UTSW	7	26,258,158 (GRCm39)	missense	probably damaging	1.00
R9206:Nlrp9a	UTSW	7	26,257,656 (GRCm39)	missense	possibly damaging	0.91
R9265:Nlrp9a	UTSW	7	26,258,038 (GRCm39)	missense	possibly damaging	0.67
R9271:Nlrp9a	UTSW	7	26,261,944 (GRCm39)	missense	probably benign
R9384:Nlrp9a	UTSW	7	26,258,158 (GRCm39)	missense	probably damaging	1.00
R9402:Nlrp9a	UTSW	7	26,270,030 (GRCm39)	missense	possibly damaging	0.81
R9424:Nlrp9a	UTSW	7	26,260,178 (GRCm39)	missense	probably benign	0.13
R9620:Nlrp9a	UTSW	7	26,250,469 (GRCm39)	missense	probably damaging	1.00
R9660:Nlrp9a	UTSW	7	26,256,915 (GRCm39)	missense	probably damaging	1.00
R9696:Nlrp9a	UTSW	7	26,275,033 (GRCm39)	missense	unknown
R9728:Nlrp9a	UTSW	7	26,256,915 (GRCm39)	missense	probably damaging	1.00
R9744:Nlrp9a	UTSW	7	26,267,266 (GRCm39)	missense	probably benign	0.07
R9794:Nlrp9a	UTSW	7	26,264,302 (GRCm39)	missense	probably benign	0.03
Z1176:Nlrp9a	UTSW	7	26,257,654 (GRCm39)	missense	probably damaging	1.00
Z1177:Nlrp9a	UTSW	7	26,256,881 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGGTGCATCCCCAGAATTTG -3'
(R):5'- TCCTAACGGATTAAGGCAGAGAAC -3'

Sequencing Primer
(F):5'- GTTTTTCTGTATACTTGACAACCAGG -3'
(R):5'- AAAGACACCCCATATCTTCCTCTGG -3'

Posted On

2017-10-10