Mutagenetix > Incidental Mutation

Incidental Mutation 'R4756:Nod2'

358019

Institutional Source

Beutler Lab

Gene Symbol

Nod2

Ensembl Gene

ENSMUSG00000055994

Gene Name

nucleotide-binding oligomerization domain containing 2

Synonyms

Nlrc2, Card15, F830032C23Rik

MMRRC Submission

041972-MU

Accession Numbers

Essential gene?

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

Stock #

R4756 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89373943-89415102 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 89390902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Cysteine at position 388 (F388C)

Ref Sequence

ENSEMBL: ENSMUSP00000105262 (fasta)

Gene Model

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

AlphaFold

Q8K3Z0

Predicted Effect

probably benign
Transcript: ENSMUST00000054324
AA Change: F403C

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000050538
Gene: ENSMUSG00000055994
AA Change: F403C

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: F388C

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105262
Gene: ENSMUSG00000055994
AA Change: F388C

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 benign
Transcript: ENSMUST00000118370
AA Change: F381C

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000113773
Gene: ENSMUSG00000055994
AA Change: F381C

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: 98.6%
10x: 97.2%
20x: 94.9%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	T	9: 53,336,830 (GRCm39)	M45L	probably benign	Het
Acss2	T	C	2: 155,403,063 (GRCm39)	F627L	probably damaging	Het
Akap8	A	G	17: 32,535,184 (GRCm39)	S277P	probably damaging	Het
Akap9	T	A	5: 4,051,418 (GRCm39)	M1395K	probably damaging	Het
Ank1	A	G	8: 23,612,893 (GRCm39)	D1468G	probably benign	Het
Apoe	A	G	7: 19,430,846 (GRCm39)	V121A	probably benign	Het
Aqp9	A	T	9: 71,070,331 (GRCm39)	L12H	probably damaging	Het
Atp2b4	G	A	1: 133,639,529 (GRCm39)	A1115V	probably benign	Het
Atp2b4	G	A	1: 133,667,134 (GRCm39)	P139L	probably benign	Het
B430218F22Rik	T	C	13: 118,523,980 (GRCm39)		probably benign	Het
Bltp2	T	A	11: 78,154,854 (GRCm39)	L122H	probably damaging	Het
Brsk1	A	G	7: 4,711,866 (GRCm39)	E572G	possibly damaging	Het
C6	T	C	15: 4,811,394 (GRCm39)	I414T	probably benign	Het
C8b	T	A	4: 104,644,083 (GRCm39)	M250K	probably benign	Het
Camk1g	T	A	1: 193,044,393 (GRCm39)	E7V	probably benign	Het
Clcc1	A	G	3: 108,580,236 (GRCm39)		probably null	Het
Col4a3	G	T	1: 82,694,018 (GRCm39)		probably null	Het
Cox5b	T	A	1: 36,732,310 (GRCm39)	W104R	probably damaging	Het
Cyp2c55	A	C	19: 39,019,815 (GRCm39)	H251P	probably damaging	Het
Cyp2c67	G	A	19: 39,632,188 (GRCm39)	T60I	probably benign	Het
Defb42	T	A	14: 63,285,824 (GRCm39)	V68E	probably benign	Het
Ercc4	T	A	16: 12,941,287 (GRCm39)	I225N	probably damaging	Het
Fam120b	G	T	17: 15,622,658 (GRCm39)	C212F	probably damaging	Het
Fgf10	T	C	13: 118,918,045 (GRCm39)	V111A	probably benign	Het
Fn1	G	T	1: 71,629,967 (GRCm39)	T2186K	probably damaging	Het
Fras1	T	C	5: 96,929,518 (GRCm39)	V3974A	probably benign	Het
Galnt4	T	C	10: 98,944,362 (GRCm39)	V29A	probably benign	Het
Gpr26	T	C	7: 131,569,230 (GRCm39)	Y192H	probably damaging	Het
Heatr9	A	T	11: 83,407,475 (GRCm39)	L236Q	probably damaging	Het
Hivep3	C	A	4: 119,955,020 (GRCm39)	P1112H	probably damaging	Het
Hnf4g	A	G	3: 3,708,069 (GRCm39)	Y106C	possibly damaging	Het
Hnrnpdl	A	T	5: 100,185,783 (GRCm39)	Y69*	probably null	Het
Itgb1	G	A	8: 129,443,703 (GRCm39)	A320T	probably damaging	Het
Kcna2	T	C	3: 107,012,733 (GRCm39)	I438T	probably benign	Het
Kif24	A	G	4: 41,397,545 (GRCm39)		probably null	Het
Klhl1	G	A	14: 96,389,402 (GRCm39)	T584I	probably benign	Het
Ltbp1	A	G	17: 75,532,199 (GRCm39)	D91G	probably damaging	Het
Mdga2	T	C	12: 66,844,427 (GRCm39)	I190M	probably damaging	Het
Meis2	G	A	2: 115,830,686 (GRCm39)	R276C	probably damaging	Het
Mob4	C	T	1: 55,191,855 (GRCm39)	R190W	probably damaging	Het
Mrgpra2a	A	G	7: 47,077,114 (GRCm39)	I48T	possibly damaging	Het
Mst1	T	C	9: 107,960,826 (GRCm39)	V481A	probably benign	Het
Mttp	A	T	3: 137,821,832 (GRCm39)	V245E	possibly damaging	Het
Nbn	T	A	4: 15,981,470 (GRCm39)	S521T	probably benign	Het
Neb	G	T	2: 52,083,243 (GRCm39)	T5654N	probably damaging	Het
Nlrp9a	A	T	7: 26,256,866 (GRCm39)	K161N	probably damaging	Het
Or3a1	G	T	11: 74,225,402 (GRCm39)	F218L	probably benign	Het
Or4a75	G	T	2: 89,447,814 (GRCm39)	H241N	possibly damaging	Het
Or4f58	A	G	2: 111,851,332 (GRCm39)	F289S	possibly damaging	Het
Or52e2	A	T	7: 102,804,332 (GRCm39)	N207K	probably benign	Het
Or7a38	T	A	10: 78,753,361 (GRCm39)	I229N	probably damaging	Het
Or7g25	G	A	9: 19,160,153 (GRCm39)	L181F	possibly damaging	Het
P2ry1	A	G	3: 60,911,898 (GRCm39)	S346G	probably benign	Het
Polr1f	T	A	12: 33,487,679 (GRCm39)		probably null	Het
Prkcd	A	G	14: 30,321,623 (GRCm39)	F524L	probably benign	Het
Qrfprl	T	C	6: 65,429,898 (GRCm39)	I198T	probably benign	Het
Ramp3	A	T	11: 6,624,843 (GRCm39)	M46L	probably benign	Het
Rint1	T	C	5: 24,014,791 (GRCm39)	Y278H	probably damaging	Het
Skint11	C	T	4: 114,051,874 (GRCm39)	T74I	probably benign	Het
Slc10a7	T	C	8: 79,433,579 (GRCm39)		probably null	Het
Slc45a2	T	A	15: 11,028,016 (GRCm39)	Y528*	probably null	Het
Slit1	A	G	19: 41,637,452 (GRCm39)	F329L	probably damaging	Het
Sltm	A	T	9: 70,498,892 (GRCm39)	M989L	possibly damaging	Het
Smad9	A	T	3: 54,701,874 (GRCm39)	T372S	possibly damaging	Het
Snrpc	T	A	17: 28,061,306 (GRCm39)	Y38*	probably null	Het
Spag17	A	G	3: 100,010,701 (GRCm39)	K2065R	possibly damaging	Het
Stxbp4	T	A	11: 90,498,197 (GRCm39)	K87N	probably damaging	Het
Tbc1d23	AT	ATT	16: 57,019,258 (GRCm39)		probably null	Het
Tgfb1i1	A	T	7: 127,848,571 (GRCm39)	M96L	probably damaging	Het
Tnc	T	A	4: 63,885,580 (GRCm39)	I1841F	probably damaging	Het
Ubap2	G	T	4: 41,211,771 (GRCm39)	H63Q	probably damaging	Het
Vps13a	T	C	19: 16,632,580 (GRCm39)	N2592S	probably benign	Het
Xdh	G	A	17: 74,193,381 (GRCm39)	P1305L	probably benign	Het
Xrn1	G	A	9: 95,921,862 (GRCm39)	R1425K	probably benign	Het
Zfp418	G	A	7: 7,185,762 (GRCm39)	R575Q	possibly damaging	Het
Zfp608	T	A	18: 55,027,544 (GRCm39)	Q1424H	probably damaging	Het
Zfp839	C	A	12: 110,821,635 (GRCm39)	L150I	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
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'- TGAGGACGCTGCTCTTTGAG -3'
(R):5'- AGGTGGCACAAACCATGCAG -3'

Sequencing Primer
(F):5'- GCACTGCTGCTGGCCTG -3'
(R):5'- GCACAAACCATGCAGGGCTG -3'

Posted On

2015-11-11