Mutagenetix > Incidental Mutation

Incidental Mutation 'R1707:Nod2'

190156

Institutional Source

Beutler Lab

Gene Symbol

Nod2

Ensembl Gene

ENSMUSG00000055994

Gene Name

nucleotide-binding oligomerization domain containing 2

Synonyms

Nlrc2, Card15, F830032C23Rik

MMRRC Submission

039740-MU

Accession Numbers

Essential gene?

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

Stock #

R1707 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89373943-89415102 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 89397104 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 816 (E816A)

Ref Sequence

ENSEMBL: ENSMUSP00000113773 (fasta)

Gene Model

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

AlphaFold

Q8K3Z0

Predicted Effect

probably benign
Transcript: ENSMUST00000054324
AA Change: E838A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000050538
Gene: ENSMUSG00000055994
AA Change: E838A

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 benign
Transcript: ENSMUST00000109634
AA Change: E823A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105262
Gene: ENSMUSG00000055994
AA Change: E823A

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

possibly damaging
Transcript: ENSMUST00000118370
AA Change: E816A

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113773
Gene: ENSMUSG00000055994
AA Change: E816A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124091

Meta Mutation Damage Score

0.3009

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

96% (82/85)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	A	T	1: 159,898,372 (GRCm39)		probably benign	Het
4931429P17Rik	A	G	13: 48,114,481 (GRCm39)		noncoding transcript	Het
Acox3	T	A	5: 35,758,908 (GRCm39)	I373N	possibly damaging	Het
Adgrb1	G	T	15: 74,401,192 (GRCm39)	A63S	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Aplp2	A	T	9: 31,062,215 (GRCm39)	H692Q	probably damaging	Het
Arhgap24	T	C	5: 103,039,953 (GRCm39)	S297P	probably benign	Het
Arhgap9	C	T	10: 127,164,758 (GRCm39)	P561S	probably benign	Het
Arhgef10l	T	G	4: 140,291,600 (GRCm39)	D62A	probably damaging	Het
Asb14	T	G	14: 26,623,079 (GRCm39)	F150L	probably benign	Het
Atp8b3	A	T	10: 80,357,635 (GRCm39)		probably null	Het
Atrnl1	A	G	19: 57,675,169 (GRCm39)	D686G	probably benign	Het
Bmpr1a	A	T	14: 34,147,098 (GRCm39)		probably benign	Het
Cc2d2a	T	A	5: 43,881,030 (GRCm39)		probably null	Het
Ccin	T	A	4: 43,983,947 (GRCm39)	I118N	probably benign	Het
Cd8b1	G	A	6: 71,303,168 (GRCm39)	G81D	probably damaging	Het
Cep126	G	A	9: 8,100,383 (GRCm39)	S717L	probably benign	Het
Cip2a	A	C	16: 48,838,767 (GRCm39)	Q861H	probably damaging	Het
Colgalt2	C	T	1: 152,276,114 (GRCm39)	R76W	probably damaging	Het
Copg1	A	T	6: 87,882,192 (GRCm39)	T596S	probably benign	Het
Cpb1	G	A	3: 20,329,655 (GRCm39)	R24W	probably damaging	Het
Csad	T	A	15: 102,088,407 (GRCm39)	D134V	probably damaging	Het
Dchs2	A	G	3: 83,034,912 (GRCm39)		probably benign	Het
Ddb2	A	G	2: 91,064,554 (GRCm39)	W119R	probably damaging	Het
Dhx57	A	T	17: 80,582,655 (GRCm39)	S317T	probably damaging	Het
Dlc1	A	G	8: 37,404,763 (GRCm39)	V342A	probably benign	Het
Dpp4	G	A	2: 62,189,679 (GRCm39)		probably benign	Het
Dst	G	T	1: 34,206,727 (GRCm39)	W1005L	probably damaging	Het
Ehmt1	T	C	2: 24,695,150 (GRCm39)	M989V	probably benign	Het
Entr1	T	A	2: 26,277,618 (GRCm39)	N69Y	probably damaging	Het
Gm5422	G	A	10: 31,124,458 (GRCm39)		noncoding transcript	Het
Gm9944	A	G	4: 144,179,833 (GRCm39)		probably benign	Het
Gtf2ird2	T	C	5: 134,245,829 (GRCm39)	Y696H	probably damaging	Het
H2-M11	T	G	17: 36,859,658 (GRCm39)	V217G	probably damaging	Het
Hunk	C	T	16: 90,183,295 (GRCm39)		probably benign	Het
Impg1	T	C	9: 80,285,799 (GRCm39)		probably null	Het
Ints11	T	G	4: 155,959,655 (GRCm39)	D87E	probably benign	Het
Intu	T	A	3: 40,595,073 (GRCm39)	S21T	probably benign	Het
Intu	C	A	3: 40,637,931 (GRCm39)	D472E	possibly damaging	Het
Kbtbd3	T	A	9: 4,316,985 (GRCm39)	N45K	probably benign	Het
Kif1c	C	T	11: 70,619,223 (GRCm39)	L953F	probably damaging	Het
Klrg2	C	G	6: 38,613,729 (GRCm39)	E91D	possibly damaging	Het
Lamc3	T	C	2: 31,802,141 (GRCm39)		probably null	Het
Magi2	T	G	5: 20,420,491 (GRCm39)	M309R	probably damaging	Het
Magohb	G	A	6: 131,261,600 (GRCm39)	P147S	probably damaging	Het
Mdn1	A	G	4: 32,693,504 (GRCm39)	D1043G	probably damaging	Het
Mtmr3	T	C	11: 4,454,095 (GRCm39)	D203G	probably damaging	Het
Mvp	C	T	7: 126,600,744 (GRCm39)	V86I	probably benign	Het
Naip5	A	T	13: 100,379,363 (GRCm39)	F226I	probably damaging	Het
Nasp	T	A	4: 116,476,133 (GRCm39)	Q51L	probably damaging	Het
Nf1	T	A	11: 79,426,430 (GRCm39)	F1594I	probably damaging	Het
Nom1	G	A	5: 29,640,316 (GRCm39)	S214N	probably damaging	Het
Or2l13b	T	C	16: 19,348,927 (GRCm39)	T248A	probably benign	Het
Or8c9	T	A	9: 38,241,197 (GRCm39)	F105I	probably damaging	Het
Parp14	A	C	16: 35,678,219 (GRCm39)	L583R	probably damaging	Het
Pclo	T	C	5: 14,763,238 (GRCm39)	S3904P	unknown	Het
Pkhd1	T	A	1: 20,621,064 (GRCm39)		probably benign	Het
Plaat1	A	G	16: 29,046,978 (GRCm39)	K166E	probably damaging	Het
Polr1e	A	C	4: 45,027,469 (GRCm39)	D233A	probably damaging	Het
Prr29	T	C	11: 106,267,509 (GRCm39)	V124A	probably damaging	Het
Rasgrp1	A	T	2: 117,129,028 (GRCm39)	V197E	probably damaging	Het
Rgma	A	T	7: 73,067,707 (GRCm39)	T415S	unknown	Het
Sacs	G	T	14: 61,447,211 (GRCm39)	V3086L	probably benign	Het
Sash1	A	G	10: 8,606,141 (GRCm39)	S750P	probably benign	Het
Scpppq1	T	A	5: 104,222,099 (GRCm39)		probably benign	Het
Sema6a	A	T	18: 47,416,512 (GRCm39)	S372T	probably benign	Het
Sis	A	G	3: 72,816,420 (GRCm39)		probably benign	Het
Skint8	T	A	4: 111,796,769 (GRCm39)	V291D	probably damaging	Het
Slc12a8	A	G	16: 33,371,377 (GRCm39)	N171S	probably damaging	Het
Slc25a40	G	A	5: 8,490,793 (GRCm39)		probably null	Het
Spag6l	A	T	16: 16,598,492 (GRCm39)	I333N	probably benign	Het
Sspo	T	A	6: 48,454,811 (GRCm39)	F2999L	probably damaging	Het
Stambpl1	A	C	19: 34,216,221 (GRCm39)	T363P	probably damaging	Het
Tenm4	A	T	7: 96,537,892 (GRCm39)	N1785Y	probably damaging	Het
Tln2	C	T	9: 67,283,089 (GRCm39)	S293N	probably benign	Het
Tmed3	G	A	9: 89,584,833 (GRCm39)	L141F	probably damaging	Het
Tmem30c	G	T	16: 57,086,843 (GRCm39)	T320K	possibly damaging	Het
Tnn	T	C	1: 159,972,714 (GRCm39)	Y296C	probably damaging	Het
Ttn	C	T	2: 76,620,430 (GRCm39)	A15802T	probably damaging	Het
Usp53	T	C	3: 122,741,049 (GRCm39)	M734V	probably benign	Het
Vmn1r24	A	G	6: 57,933,497 (GRCm39)	I7T	probably benign	Het
Vmn1r74	T	A	7: 11,581,504 (GRCm39)	V268E	probably damaging	Het
Xirp1	A	T	9: 119,847,841 (GRCm39)	H347Q	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
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
R7832:Nod2	UTSW	8	89,387,425 (GRCm39)	splice site	probably null
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'- TGCATGAGGTACTCTGCCCTTCTG -3'
(R):5'- GCACGCATCCGTGAGTTTGTTG -3'

Sequencing Primer
(F):5'- CTGGTTACCAGAAGCACAGTG -3'
(R):5'- CTGCTGGGTTCCAGGAAAG -3'

Posted On

2014-05-14