Mutagenetix > Incidental Mutation

Incidental Mutation 'R7832:Nod2'

628687

Institutional Source

Beutler Lab

Gene Symbol

Nod2

Ensembl Gene

ENSMUSG00000055994

Gene Name

nucleotide-binding oligomerization domain containing 2

Synonyms

Nlrc2, Card15, F830032C23Rik

MMRRC Submission

045886-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R7832 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89373943-89415102 bp(+) (GRCm39)

Type of Mutation

splice site (153 bp from exon)

DNA Base Change (assembly)

A to G at 89387425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113773 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054324] [ENSMUST00000109634] [ENSMUST00000118370]

AlphaFold

Q8K3Z0

Predicted Effect

probably null
Transcript: ENSMUST00000054324

SMART Domains

Protein: ENSMUSP00000050538
Gene: ENSMUSG00000055994

Domain	Start	End	E-Value	Type
Pfam:CARD	4	92	5.3e-20	PFAM
Blast:CARD	100	177	8e-11	BLAST
Pfam:NACHT	288	458	1.8e-46	PFAM
low complexity region	521	554	N/A	INTRINSIC
low complexity region	628	639	N/A	INTRINSIC
LRR	781	811	3.15e1	SMART
LRR	813	836	1.12e2	SMART
LRR	837	864	8.53e0	SMART
LRR	865	892	1.58e-3	SMART
LRR	893	920	4.83e-1	SMART
LRR	921	948	1.13e0	SMART
LRR	949	976	4.68e-6	SMART
LRR	977	1004	7.78e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000109634

SMART Domains

Protein: ENSMUSP00000105262
Gene: ENSMUSG00000055994

Domain	Start	End	E-Value	Type
Pfam:CARD	11	99	2.5e-22	PFAM
Pfam:CARD	111	195	2.1e-14	PFAM
Pfam:NACHT	273	443	1.2e-45	PFAM
low complexity region	506	539	N/A	INTRINSIC
low complexity region	613	624	N/A	INTRINSIC
LRR	766	796	3.15e1	SMART
LRR	798	821	1.12e2	SMART
LRR	822	849	8.53e0	SMART
LRR	850	877	1.58e-3	SMART
LRR	878	905	4.83e-1	SMART
LRR	906	933	1.13e0	SMART
LRR	934	961	4.68e-6	SMART
LRR	962	989	7.78e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000118370

SMART Domains

Protein: ENSMUSP00000113773
Gene: ENSMUSG00000055994

Domain	Start	End	E-Value	Type
Pfam:CARD	4	92	1e-21	PFAM
Pfam:CARD	104	188	8.4e-14	PFAM
Pfam:NACHT	266	436	2.5e-45	PFAM
low complexity region	499	532	N/A	INTRINSIC
low complexity region	606	617	N/A	INTRINSIC
LRR	759	789	3.15e1	SMART
LRR	791	814	1.12e2	SMART
LRR	815	842	8.53e0	SMART
LRR	843	870	1.58e-3	SMART
LRR	871	898	4.83e-1	SMART
LRR	899	926	1.13e0	SMART
LRR	927	954	4.68e-6	SMART
LRR	955	982	7.78e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (78/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Nod1/Apaf-1 family and encodes a protein with two caspase recruitment (CARD) domains and six leucine-rich repeats (LRRs). The protein is primarily expressed in the peripheral blood leukocytes. It plays a role in the immune response to intracellular bacterial lipopolysaccharides (LPS) by recognizing the muramyl dipeptide (MDP) derived from them and activating the NFKB protein. Mutations in this gene have been associated with Crohn disease and Blau syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal immune system morphology and physiology and increased susceptibility to induced colitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd11	G	A	5: 135,038,654 (GRCm39)	C30Y	probably benign	Het
Akr1c20	C	T	13: 4,562,671 (GRCm39)	V95M	probably damaging	Het
Ano7	A	G	1: 93,322,195 (GRCm39)	D401G	probably benign	Het
Arhgef10l	G	A	4: 140,305,616 (GRCm39)	T176I	possibly damaging	Het
Armc2	A	C	10: 41,842,792 (GRCm39)	V337G	probably damaging	Het
Atp6v0d2	T	A	4: 19,922,400 (GRCm39)	Y33F	probably benign	Het
Banp	A	G	8: 122,747,291 (GRCm39)	S447G	probably benign	Het
Car8	T	A	4: 8,238,860 (GRCm39)	Y32F	possibly damaging	Het
Ccdc188	C	T	16: 18,036,539 (GRCm39)	P124S	probably damaging	Het
Cdc23	A	T	18: 34,780,072 (GRCm39)	D85E	probably benign	Het
Cnot6l	T	C	5: 96,242,084 (GRCm39)	E213G	possibly damaging	Het
Cntnap4	A	G	8: 113,484,113 (GRCm39)	T389A	probably benign	Het
Cramp1	A	T	17: 25,202,196 (GRCm39)	C429S	probably damaging	Het
Crygn	T	C	5: 24,961,072 (GRCm39)	H78R	probably benign	Het
D630003M21Rik	T	A	2: 158,059,588 (GRCm39)	D104V	probably damaging	Het
Dcaf10	T	G	4: 45,348,196 (GRCm39)	H217Q	probably damaging	Het
Dmrtb1	C	T	4: 107,541,179 (GRCm39)	V61M	probably benign	Het
Dnai1	A	G	4: 41,605,823 (GRCm39)	E271G	probably benign	Het
Efr3a	G	A	15: 65,701,679 (GRCm39)	V198I	probably benign	Het
Emsy	G	A	7: 98,289,060 (GRCm39)	T79M	probably damaging	Het
Ergic1	A	G	17: 26,853,449 (GRCm39)	D145G	probably damaging	Het
Fah	A	G	7: 84,244,686 (GRCm39)	V229A	probably damaging	Het
Fam76a	G	A	4: 132,629,342 (GRCm39)	T270I	probably damaging	Het
Fat4	A	T	3: 39,055,353 (GRCm39)	M4191L	probably benign	Het
Fbxl22	G	T	9: 66,418,999 (GRCm39)	R213S	probably benign	Het
Fktn	T	C	4: 53,734,859 (GRCm39)	F127L	probably benign	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Gabbr2	A	T	4: 46,734,096 (GRCm39)	S541T	probably benign	Het
Gm7489	A	G	15: 53,749,402 (GRCm39)	H158R	unknown	Het
Greb1l	G	C	18: 10,542,056 (GRCm39)	E1268Q	probably benign	Het
H2-D1	A	G	17: 35,482,848 (GRCm39)	D126G	probably damaging	Het
Ikzf3	T	A	11: 98,409,525 (GRCm39)	T13S	probably benign	Het
Il23r	T	C	6: 67,400,846 (GRCm39)	T495A	probably benign	Het
Insyn2b	A	G	11: 34,353,034 (GRCm39)	T359A	probably benign	Het
Irf5	A	G	6: 29,535,461 (GRCm39)	T230A	probably benign	Het
Itga2b	A	T	11: 102,348,108 (GRCm39)	I831N	probably damaging	Het
Itgb4	A	G	11: 115,891,087 (GRCm39)	D1168G	probably damaging	Het
Kcnma1	G	T	14: 23,440,991 (GRCm39)	P605Q	probably benign	Het
Larp7	A	T	3: 127,337,916 (GRCm39)	M381K	possibly damaging	Het
Lfng	G	A	5: 140,598,588 (GRCm39)	G269D	probably benign	Het
Liph	T	C	16: 21,780,986 (GRCm39)	I335V	probably benign	Het
Map2k2	A	T	10: 80,954,040 (GRCm39)	I169F	possibly damaging	Het
Mmrn1	T	A	6: 60,964,044 (GRCm39)		probably null	Het
Or51ag1	A	C	7: 103,155,586 (GRCm39)	L189R	probably damaging	Het
Or5b101	T	A	19: 13,005,360 (GRCm39)	Y111F	probably benign	Het
Or9s23	T	C	1: 92,501,219 (GRCm39)	F109L	probably benign	Het
Pcdh20	G	T	14: 88,707,143 (GRCm39)	F52L	probably null	Het
Pkhd1	A	T	1: 20,573,223 (GRCm39)	N1894K	probably damaging	Het
Pla2r1	T	A	2: 60,334,536 (GRCm39)	D412V	possibly damaging	Het
Pole	T	G	5: 110,465,663 (GRCm39)	M1197R	probably benign	Het
Pom121l2	C	T	13: 22,168,048 (GRCm39)	T773I	possibly damaging	Het
Ppp2r5d	A	T	17: 46,995,472 (GRCm39)	M497K	probably benign	Het
Rbm45	G	T	2: 76,206,797 (GRCm39)	V270F	possibly damaging	Het
Ros1	A	T	10: 52,020,957 (GRCm39)	F673I	probably damaging	Het
Rtn4	T	A	11: 29,691,048 (GRCm39)	L1113*	probably null	Het
Scn4a	A	G	11: 106,212,841 (GRCm39)	I1388T	probably benign	Het
Sema3c	G	A	5: 17,899,845 (GRCm39)	V446I	probably damaging	Het
Six4	T	C	12: 73,159,408 (GRCm39)	Y176C	probably damaging	Het
Slc35a5	T	A	16: 44,964,570 (GRCm39)	K221M	possibly damaging	Het
Slc6a19	A	G	13: 73,841,182 (GRCm39)	I76T	probably damaging	Het
Slfn4	A	G	11: 83,077,419 (GRCm39)	D69G	probably damaging	Het
Smc6	T	C	12: 11,367,844 (GRCm39)	F1085L	probably benign	Het
Spatc1l	A	G	10: 76,398,224 (GRCm39)	S9G	probably benign	Het
Stx8	T	A	11: 68,000,106 (GRCm39)	I182N	probably damaging	Het
Sult2a8	A	T	7: 14,147,596 (GRCm39)	C232S	probably benign	Het
Susd4	G	A	1: 182,686,070 (GRCm39)	A207T	probably benign	Het
Svep1	G	A	4: 58,054,539 (GRCm39)	P3350S	probably benign	Het
Tbx20	A	T	9: 24,685,108 (GRCm39)	S12T	probably damaging	Het
Tfrc	A	G	16: 32,437,985 (GRCm39)	K346R	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Umodl1	A	T	17: 31,192,666 (GRCm39)		probably null	Het
Vmn1r201	T	C	13: 22,659,538 (GRCm39)	F251L	possibly damaging	Het
Vmn1r230	A	G	17: 21,066,933 (GRCm39)	T41A	probably benign	Het
Vmn2r20	A	G	6: 123,362,882 (GRCm39)	L634P	probably damaging	Het
Vmn2r81	A	T	10: 79,129,664 (GRCm39)	R852W	probably damaging	Het
Wdr41	A	T	13: 95,151,701 (GRCm39)	N287I	probably benign	Het
Zfp202	A	G	9: 40,121,758 (GRCm39)	D285G	possibly damaging	Het

Other mutations in Nod2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01404:Nod2	APN	8	89,390,364 (GRCm39)	missense	probably benign	0.02
IGL02299:Nod2	APN	8	89,390,370 (GRCm39)	missense	possibly damaging	0.81
PIT4687001:Nod2	UTSW	8	89,408,274 (GRCm39)	missense	probably damaging	1.00
R0305:Nod2	UTSW	8	89,391,951 (GRCm39)	missense	probably damaging	1.00
R0391:Nod2	UTSW	8	89,390,406 (GRCm39)	missense	probably benign	0.00
R0580:Nod2	UTSW	8	89,391,034 (GRCm39)	missense	probably damaging	1.00
R0617:Nod2	UTSW	8	89,379,859 (GRCm39)	missense	probably benign	0.00
R0815:Nod2	UTSW	8	89,399,290 (GRCm39)	splice site	probably benign
R1460:Nod2	UTSW	8	89,390,440 (GRCm39)	missense	probably damaging	1.00
R1528:Nod2	UTSW	8	89,391,217 (GRCm39)	missense	possibly damaging	0.92
R1707:Nod2	UTSW	8	89,397,104 (GRCm39)	missense	possibly damaging	0.59
R1934:Nod2	UTSW	8	89,390,347 (GRCm39)	missense	probably benign
R1956:Nod2	UTSW	8	89,390,836 (GRCm39)	missense	probably damaging	1.00
R1972:Nod2	UTSW	8	89,379,501 (GRCm39)	missense	probably damaging	1.00
R1973:Nod2	UTSW	8	89,379,501 (GRCm39)	missense	probably damaging	1.00
R2902:Nod2	UTSW	8	89,402,091 (GRCm39)	missense	probably damaging	1.00
R2918:Nod2	UTSW	8	89,379,519 (GRCm39)	missense	probably benign	0.02
R3435:Nod2	UTSW	8	89,390,637 (GRCm39)	missense	possibly damaging	0.64
R3705:Nod2	UTSW	8	89,379,948 (GRCm39)	missense	probably benign	0.02
R4395:Nod2	UTSW	8	89,391,019 (GRCm39)	missense	probably damaging	1.00
R4612:Nod2	UTSW	8	89,391,664 (GRCm39)	missense	possibly damaging	0.65
R4756:Nod2	UTSW	8	89,390,902 (GRCm39)	missense	possibly damaging	0.59
R5122:Nod2	UTSW	8	89,390,748 (GRCm39)	missense	probably damaging	1.00
R5144:Nod2	UTSW	8	89,379,694 (GRCm39)	missense	probably damaging	0.99
R5166:Nod2	UTSW	8	89,390,875 (GRCm39)	missense	possibly damaging	0.58
R5203:Nod2	UTSW	8	89,391,079 (GRCm39)	missense	probably damaging	1.00
R5338:Nod2	UTSW	8	89,399,413 (GRCm39)	splice site	probably null
R5614:Nod2	UTSW	8	89,390,824 (GRCm39)	missense	probably damaging	1.00
R5746:Nod2	UTSW	8	89,390,970 (GRCm39)	missense	probably damaging	0.98
R5834:Nod2	UTSW	8	89,391,267 (GRCm39)	missense	possibly damaging	0.91
R6059:Nod2	UTSW	8	89,391,042 (GRCm39)	missense	probably damaging	1.00
R6282:Nod2	UTSW	8	89,397,088 (GRCm39)	missense	probably benign	0.02
R6707:Nod2	UTSW	8	89,391,817 (GRCm39)	missense	probably benign
R6741:Nod2	UTSW	8	89,379,694 (GRCm39)	missense	probably damaging	0.99
R6838:Nod2	UTSW	8	89,397,086 (GRCm39)	missense	possibly damaging	0.63
R7008:Nod2	UTSW	8	89,390,285 (GRCm39)	nonsense	probably null
R7182:Nod2	UTSW	8	89,390,460 (GRCm39)	missense	probably benign	0.01
R7324:Nod2	UTSW	8	89,379,694 (GRCm39)	missense	probably damaging	1.00
R7344:Nod2	UTSW	8	89,387,210 (GRCm39)	missense	probably damaging	1.00
R7588:Nod2	UTSW	8	89,401,536 (GRCm39)	missense	possibly damaging	0.80
R7625:Nod2	UTSW	8	89,391,906 (GRCm39)	missense	probably damaging	0.98
R8104:Nod2	UTSW	8	89,391,685 (GRCm39)	missense	possibly damaging	0.89
R8217:Nod2	UTSW	8	89,390,785 (GRCm39)	missense	probably benign	0.06
R8840:Nod2	UTSW	8	89,399,379 (GRCm39)	missense	probably benign	0.13
R8901:Nod2	UTSW	8	89,390,437 (GRCm39)	missense	probably damaging	1.00
R8974:Nod2	UTSW	8	89,390,433 (GRCm39)	missense	probably damaging	1.00
R9185:Nod2	UTSW	8	89,391,880 (GRCm39)	missense	probably damaging	1.00
R9375:Nod2	UTSW	8	89,391,033 (GRCm39)	missense	probably damaging	1.00
R9504:Nod2	UTSW	8	89,391,906 (GRCm39)	missense	probably damaging	0.98
R9516:Nod2	UTSW	8	89,397,050 (GRCm39)	missense	probably damaging	0.99
R9546:Nod2	UTSW	8	89,379,621 (GRCm39)	missense	probably benign
R9612:Nod2	UTSW	8	89,397,101 (GRCm39)	missense	probably benign	0.02
Z1088:Nod2	UTSW	8	89,390,774 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTACAGCACGTCAGGGAACTAC -3'
(R):5'- AGTCTGCCTGGTTATGAGTTCC -3'

Sequencing Primer
(F):5'- CGTCAGGGAACTACCAGCTC -3'
(R):5'- GTTCCAGATCATGAGAAACTACG -3'

Posted On

2020-06-09