Mutagenetix > Incidental Mutation

Incidental Mutation 'R9206:Nlrp9a'

698525

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: 0.074) question?

Stock #

R9206 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26535023-26575615 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 26558231 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 425 (L425M)

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

possibly damaging
Transcript: ENSMUST00000071780
AA Change: L425M

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000071685
Gene: ENSMUSG00000054102
AA Change: L425M

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: L425M

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104024
Gene: ENSMUSG00000054102
AA Change: L425M

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: L425M

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112398
Gene: ENSMUSG00000054102
AA Change: L425M

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: L425M

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113318
Gene: ENSMUSG00000054102
AA Change: L425M

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: L336M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120498
Gene: ENSMUSG00000054102
AA Change: L336M

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	G	17: 45,509,404	D248G	probably benign	Het
Abcc5	C	A	16: 20,389,389	V605F	probably benign	Het
AI314180	A	T	4: 58,875,444	D173E	probably damaging	Het
Als2	A	G	1: 59,185,247	Y1066H	probably damaging	Het
Apbb1	A	G	7: 105,559,520	S569P	probably damaging	Het
Apex1	T	G	14: 50,925,668	D69E	possibly damaging	Het
Atg13	A	T	2: 91,682,061	F288I	probably benign	Het
Atl3	A	G	19: 7,510,082	I121V	probably benign	Het
Atoh1	A	G	6: 64,729,729	E136G	probably benign	Het
Ccr7	T	C	11: 99,149,069	N9S	probably benign	Het
Cdhr1	A	C	14: 37,080,548	W653G	probably damaging	Het
Cln6	T	A	9: 62,849,183	M203K	probably benign	Het
Crnn	A	C	3: 93,146,944	I45L	possibly damaging	Het
Cse1l	C	A	2: 166,941,265	N743K	probably damaging	Het
Cyp1a2	A	G	9: 57,682,300	I77T	probably damaging	Het
D6Wsu163e	A	G	6: 126,966,969	I443V	probably benign	Het
Dnah7a	G	T	1: 53,501,598	T2539N	probably benign	Het
Fam13c	A	G	10: 70,553,039	E465G	probably damaging	Het
Fat4	G	C	3: 39,009,241	G4449R	probably damaging	Het
Fgd5	T	C	6: 92,038,210	L964S	probably damaging	Het
Fpr3	A	T	17: 17,970,869	Q134L	probably damaging	Het
Gm973	A	T	1: 59,552,426	Q323L	possibly damaging	Het
Gna15	A	G	10: 81,509,390	S214P	probably benign	Het
Iars2	A	T	1: 185,317,949	M446K	possibly damaging	Het
Kcnh7	A	G	2: 62,777,603	S545P	probably damaging	Het
Kif1a	G	T	1: 93,051,480	D928E	probably damaging	Het
Kif26a	C	T	12: 112,178,046	T1578M	possibly damaging	Het
Kif5a	A	G	10: 127,243,358		probably null	Het
Klhl31	T	A	9: 77,651,107	Y368*	probably null	Het
Krtap27-1	A	G	16: 88,671,428	V76A	possibly damaging	Het
Lamc1	A	T	1: 153,250,451	H498Q	probably damaging	Het
Ltbp4	A	T	7: 27,322,925	C924S	probably damaging	Het
Ltn1	T	C	16: 87,400,410	D1180G	probably benign	Het
Macf1	A	G	4: 123,684,132	C20R	unknown	Het
Mpp7	T	C	18: 7,403,327	R328G	probably benign	Het
Ncdn	A	T	4: 126,750,248	D260E	probably benign	Het
Nop9	T	A	14: 55,750,135		probably null	Het
Nrip1	T	C	16: 76,292,728	E647G	possibly damaging	Het
Nt5c3	C	A	6: 56,897,808	M1I	probably null	Het
Olfr1314	A	G	2: 112,092,065	F212S	probably benign	Het
Olfr69	A	G	7: 103,768,271	I42T	probably benign	Het
Olfr892-ps1	T	C	9: 38,189,824	M33T	possibly damaging	Het
Patj	A	T	4: 98,539,073	I172F	unknown	Het
Plxna4	A	T	6: 32,517,444	V79D	probably damaging	Het
Ptprd	C	G	4: 75,954,078	A1134P	possibly damaging	Het
Rbm27	T	A	18: 42,314,098	Y469*	probably null	Het
Rbm33	A	G	5: 28,352,586	T266A	probably damaging	Het
Rcbtb2	C	T	14: 73,177,060	S437L	probably damaging	Het
Rcor3	A	T	1: 192,101,595	*448R	probably null	Het
Scn10a	T	C	9: 119,616,761	Y1442C	probably damaging	Het
Scn2a	A	T	2: 65,717,787	I1108F	probably damaging	Het
Scrn2	T	C	11: 97,032,136	I135T	probably damaging	Het
Sptan1	A	T	2: 30,030,712	M2380L	possibly damaging	Het
Tbc1d12	T	C	19: 38,836,998	S98P	probably benign	Het
Tmem106b	A	T	6: 13,082,431	T202S	probably damaging	Het
Tnfsf8	A	G	4: 63,834,213	V205A	probably benign	Het
Tor4a	A	T	2: 25,194,963	N309K	probably damaging	Het
Trbv4	A	G	6: 41,059,690	T50A	probably benign	Het
Tspyl4	A	G	10: 34,297,572	H20R	probably benign	Het
Tvp23b	T	C	11: 62,882,016	I31T	possibly damaging	Het
Vmn1r192	A	T	13: 22,187,231	F273Y	probably damaging	Het
Vmn2r6	T	A	3: 64,559,611	I156F	probably damaging	Het
Wnk4	T	C	11: 101,274,056	I737T	probably damaging	Het
Zfp329	A	T	7: 12,811,158	D146E	probably benign	Het
Zfp40	A	G	17: 23,175,577	F679L	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,890,600		probably benign	Het
Zfp804b	T	C	5: 6,772,154	N303S	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
R9031:Nlrp9a	UTSW	7	26558273	missense	probably damaging	1.00
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
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'- GTTTTGGTCGAACATTAGGACTCC -3'
(R):5'- ATCCGTGTGTGGAACCATTG -3'

Sequencing Primer
(F):5'- GGTCGAACATTAGGACTCCTCTAC -3'
(R):5'- AACCATTGGTTCTGTTTATGAGC -3'

Posted On

2022-02-07