Mutagenetix > Incidental Mutation

Incidental Mutation 'R1956:Nod2'

217801

Institutional Source

Beutler Lab

Gene Symbol

Nod2

Ensembl Gene

ENSMUSG00000055994

Gene Name

nucleotide-binding oligomerization domain containing 2

Synonyms

Nlrc2, Card15, F830032C23Rik

MMRRC Submission

039970-MU

Accession Numbers

Essential gene?

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

Stock #

R1956 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89373943-89415102 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89390836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 359 (F359Y)

Ref Sequence

ENSEMBL: ENSMUSP00000113773 (fasta)

Gene Model

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

AlphaFold

Q8K3Z0

Predicted Effect

probably damaging
Transcript: ENSMUST00000054324
AA Change: F381Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050538
Gene: ENSMUSG00000055994
AA Change: F381Y

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

possibly damaging
Transcript: ENSMUST00000109634
AA Change: F366Y

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105262
Gene: ENSMUSG00000055994
AA Change: F366Y

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 damaging
Transcript: ENSMUST00000118370
AA Change: F359Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113773
Gene: ENSMUSG00000055994
AA Change: F359Y

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aard	A	T	15: 51,908,316 (GRCm39)	D157V	probably damaging	Het
Abcg5	A	G	17: 84,977,803 (GRCm39)	V151A	probably damaging	Het
Acss3	A	G	10: 106,772,029 (GRCm39)	V682A	probably benign	Het
Adamts9	A	T	6: 92,836,830 (GRCm39)	C641S	probably damaging	Het
Adipor1	T	C	1: 134,350,771 (GRCm39)	S7P	probably benign	Het
Ankrd27	T	A	7: 35,303,264 (GRCm39)	Y215N	probably damaging	Het
Arhgef7	T	A	8: 11,855,266 (GRCm39)	L182Q	probably damaging	Het
Arnt	C	T	3: 95,355,704 (GRCm39)	S16L	possibly damaging	Het
Arrdc4	T	C	7: 68,391,547 (GRCm39)	K240R	probably benign	Het
Atg2b	T	C	12: 105,635,677 (GRCm39)	Y197C	probably damaging	Het
Atp13a2	A	G	4: 140,731,572 (GRCm39)	K907R	possibly damaging	Het
Cadps2	A	T	6: 23,287,685 (GRCm39)	M1160K	probably damaging	Het
Cdk12	A	G	11: 98,110,042 (GRCm39)	T688A	probably benign	Het
Cfap43	T	A	19: 47,885,649 (GRCm39)	Y322F	probably benign	Het
Crabp2	T	C	3: 87,856,193 (GRCm39)	F16L	probably damaging	Het
Creb3	A	G	4: 43,563,279 (GRCm39)		probably null	Het
Crk	T	C	11: 75,583,496 (GRCm39)	Y239H	possibly damaging	Het
Cyp3a13	A	G	5: 137,908,204 (GRCm39)	I215T	probably benign	Het
D130043K22Rik	A	G	13: 25,069,578 (GRCm39)	Y879C	probably damaging	Het
Depdc5	T	C	5: 33,061,175 (GRCm39)	V334A	probably damaging	Het
Dgkh	T	C	14: 78,855,981 (GRCm39)	N231S	probably damaging	Het
Disp2	T	A	2: 118,622,704 (GRCm39)	H1145Q	probably benign	Het
Epb41l4b	T	C	4: 57,038,553 (GRCm39)	T563A	possibly damaging	Het
Ephb3	G	A	16: 21,040,132 (GRCm39)	R498H	probably damaging	Het
F10	T	C	8: 13,105,422 (GRCm39)	I329T	probably damaging	Het
Fam13b	G	T	18: 34,578,382 (GRCm39)	Q760K	possibly damaging	Het
Fmo4	G	A	1: 162,631,259 (GRCm39)	T236I	probably benign	Het
Foxp4	C	T	17: 48,186,796 (GRCm39)	R378Q	unknown	Het
Fpr-rs4	A	G	17: 18,242,518 (GRCm39)	Y175C	probably damaging	Het
Fzd8	T	A	18: 9,214,502 (GRCm39)	M528K	probably damaging	Het
Gcc2	A	G	10: 58,121,965 (GRCm39)	H1134R	possibly damaging	Het
Gdf10	G	A	14: 33,654,710 (GRCm39)	A406T	probably benign	Het
Ggn	T	A	7: 28,871,341 (GRCm39)	S240R	probably damaging	Het
Git2	C	T	5: 114,887,398 (GRCm39)	W299*	probably null	Het
Gm42669	A	T	5: 107,656,738 (GRCm39)	E355D	possibly damaging	Het
Gm5134	T	C	10: 75,840,680 (GRCm39)	F508S	possibly damaging	Het
Gm9923	G	T	10: 72,145,490 (GRCm39)	V114L	probably benign	Het
Has3	A	T	8: 107,605,435 (GRCm39)	Y547F	probably benign	Het
Heatr5a	A	G	12: 51,992,202 (GRCm39)		probably null	Het
Hnrnpk	A	T	13: 58,544,000 (GRCm39)		probably null	Het
Ifna4	A	T	4: 88,760,311 (GRCm39)	I72F	probably damaging	Het
Ip6k3	A	T	17: 27,370,142 (GRCm39)	L92Q	probably benign	Het
Itpripl1	T	C	2: 126,983,927 (GRCm39)	E65G	probably damaging	Het
Kcnh5	G	C	12: 74,944,358 (GRCm39)	Q964E	probably benign	Het
Kmt2d	A	G	15: 98,757,471 (GRCm39)		probably benign	Het
Lrrc69	A	G	4: 14,665,986 (GRCm39)	V324A	possibly damaging	Het
Mefv	T	C	16: 3,535,691 (GRCm39)	Q79R	probably damaging	Het
Mettl17	T	C	14: 52,126,254 (GRCm39)	S168P	probably damaging	Het
Mpp4	A	T	1: 59,197,811 (GRCm39)	S23T	probably benign	Het
Nabp1	A	T	1: 51,517,004 (GRCm39)	V24D	probably damaging	Het
Or10g1b	C	T	14: 52,628,037 (GRCm39)	M64I	probably benign	Het
Or1p1c	A	T	11: 74,160,670 (GRCm39)	T152S	probably damaging	Het
Or51b17	T	G	7: 103,542,925 (GRCm39)	S6R	probably benign	Het
Or52d3	C	A	7: 104,229,116 (GRCm39)	L88M	probably damaging	Het
Or5ak4	T	C	2: 85,161,444 (GRCm39)	D266G	probably benign	Het
Or5b107	T	C	19: 13,142,560 (GRCm39)	Y61H	probably damaging	Het
Or6a2	C	T	7: 106,600,342 (GRCm39)	A242T	probably damaging	Het
Or7a39	A	G	10: 78,715,267 (GRCm39)	Q87R	probably benign	Het
Pcdh18	T	C	3: 49,710,400 (GRCm39)	H305R	probably benign	Het
Phf1	T	A	17: 27,154,719 (GRCm39)		probably null	Het
Pold3	T	C	7: 99,737,318 (GRCm39)	K379R	probably benign	Het
Polr1f	T	A	12: 33,487,817 (GRCm39)	V244D	probably benign	Het
Pou2f3	T	A	9: 43,056,534 (GRCm39)	T108S	probably benign	Het
Prdm5	C	A	6: 65,913,060 (GRCm39)	T203K	probably damaging	Het
Psma5	A	G	3: 108,173,760 (GRCm39)	S79G	probably benign	Het
Psme4	T	A	11: 30,782,424 (GRCm39)	S889T	probably damaging	Het
Ptk2	A	T	15: 73,087,832 (GRCm39)	V902D	possibly damaging	Het
Rad54l	T	A	4: 115,967,554 (GRCm39)	I243F	probably damaging	Het
Ralgapa2	A	G	2: 146,302,679 (GRCm39)	F95L	probably benign	Het
Rassf6	G	A	5: 90,763,730 (GRCm39)	Q71*	probably null	Het
Ryr2	A	T	13: 11,695,966 (GRCm39)	L2967H	probably damaging	Het
Scn5a	T	C	9: 119,346,479 (GRCm39)	T1058A	possibly damaging	Het
Sdk1	T	C	5: 142,080,336 (GRCm39)	L1276P	probably damaging	Het
Serpina12	T	G	12: 104,002,048 (GRCm39)	T223P	probably damaging	Het
Sh3yl1	A	G	12: 30,992,787 (GRCm39)		probably null	Het
Spata31g1	A	T	4: 42,970,105 (GRCm39)		probably null	Het
St6galnac5	T	A	3: 152,552,120 (GRCm39)	Q149L	probably benign	Het
Stam2	T	C	2: 52,598,239 (GRCm39)		probably null	Het
Tac2	A	G	10: 127,564,349 (GRCm39)		probably null	Het
Tbata	G	A	10: 61,019,256 (GRCm39)	D271N	probably damaging	Het
Tbx3	T	C	5: 119,819,018 (GRCm39)	V531A	probably benign	Het
Tektl1	A	G	10: 78,586,373 (GRCm39)		probably null	Het
Thra	T	A	11: 98,654,567 (GRCm39)	D312E	probably benign	Het
Tlr1	T	A	5: 65,082,520 (GRCm39)	I686F	probably damaging	Het
Tmem86b	A	T	7: 4,631,706 (GRCm39)	F115L	probably benign	Het
Tmem94	A	G	11: 115,679,500 (GRCm39)	D259G	possibly damaging	Het
Trim69	G	A	2: 122,004,956 (GRCm39)		probably null	Het
Usp43	T	A	11: 67,795,159 (GRCm39)	Q243L	probably damaging	Het
Vcam1	T	C	3: 115,919,606 (GRCm39)	Y226C	probably damaging	Het
Vmn2r104	A	T	17: 20,262,313 (GRCm39)	N272K	probably damaging	Het
Vmn2r26	G	A	6: 124,030,846 (GRCm39)	C527Y	probably damaging	Het
Vmn2r84	G	A	10: 130,226,677 (GRCm39)	A387V	probably benign	Het
Vps13b	A	T	15: 35,869,553 (GRCm39)	I2686F	probably damaging	Het
Vps8	C	T	16: 21,279,892 (GRCm39)	T281M	probably damaging	Het
Wdfy3	A	G	5: 102,067,275 (GRCm39)	V1219A	probably benign	Het
Wnt9b	A	G	11: 103,621,638 (GRCm39)	C340R	probably damaging	Het
Zfhx3	T	C	8: 109,520,774 (GRCm39)	V632A	probably benign	Het
Zfp1006	A	T	8: 129,948,309 (GRCm39)	D41E	possibly damaging	Het
Zfp341	A	T	2: 154,480,132 (GRCm39)	T528S	probably benign	Het
Zfp990	G	A	4: 145,261,452 (GRCm39)	A33T	probably damaging	Het
Zranb1	T	G	7: 132,584,458 (GRCm39)	S601R	probably damaging	Het
Zyx	A	T	6: 42,328,289 (GRCm39)	K166I	probably 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
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'- GAGGAGCTTCCAGGAGTTTCTC -3'
(R):5'- TGGATGCCCTCTTCAGAGAAG -3'

Sequencing Primer
(F):5'- AGGAGTTTCTCTTCATTTTCCCATTC -3'
(R):5'- TCAGAGAAGCCCTTCAGTTG -3'

Posted On

2014-08-01