Mutagenetix > Incidental Mutation

Incidental Mutation 'R9612:Nod2'

724312

Institutional Source

Beutler Lab

Gene Symbol

Nod2

Ensembl Gene

ENSMUSG00000055994

Gene Name

nucleotide-binding oligomerization domain containing 2

Synonyms

Nlrc2, Card15, F830032C23Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9612 (G1)

Quality Score

222.009

Status

Not validated

Chromosome

Chromosomal Location

89373943-89415102 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 89397101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 837 (C837F)

Ref Sequence

ENSEMBL: ENSMUSP00000050538 (fasta)

Gene Model

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

AlphaFold

Q8K3Z0

Predicted Effect

probably benign
Transcript: ENSMUST00000054324
AA Change: C837F

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000050538
Gene: ENSMUSG00000055994
AA Change: C837F

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: C822F

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105262
Gene: ENSMUSG00000055994
AA Change: C822F

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: C815F

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000113773
Gene: ENSMUSG00000055994
AA Change: C815F

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: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.6%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	C	7: 41,276,327 (GRCm39)	S677P	possibly damaging	Het
5730480H06Rik	A	G	5: 48,531,872 (GRCm39)	I67V	probably benign	Het
Adam15	T	A	3: 89,249,247 (GRCm39)	Y736F	probably damaging	Het
Adam29	A	T	8: 56,325,118 (GRCm39)	F445L	possibly damaging	Het
Adgrv1	A	G	13: 81,641,082 (GRCm39)	Y3318H	probably damaging	Het
Akap6	A	G	12: 52,958,690 (GRCm39)	Y815C	probably damaging	Het
Ankar	T	A	1: 72,704,294 (GRCm39)	D876V	possibly damaging	Het
Atp6v1g2	G	A	17: 35,456,733 (GRCm39)	V106I	probably benign	Het
Bdp1	A	G	13: 100,214,370 (GRCm39)	S490P	probably benign	Het
Bet1	A	T	6: 4,077,918 (GRCm39)	V107D	probably damaging	Het
Bri3bp	T	C	5: 125,531,390 (GRCm39)	V112A	probably damaging	Het
Cage1	T	A	13: 38,216,351 (GRCm39)	D33V	probably damaging	Het
Ccdc146	G	T	5: 21,535,577 (GRCm39)	A159E	probably damaging	Het
Ccnl1	C	A	3: 65,865,404 (GRCm39)	G49V	probably damaging	Het
Cdk13	A	C	13: 17,926,440 (GRCm39)	F787V		Het
Cdk5r1	T	C	11: 80,368,480 (GRCm39)	V49A	probably benign	Het
Cdon	G	A	9: 35,398,201 (GRCm39)	V973I	probably damaging	Het
Cfap298	A	T	16: 90,724,275 (GRCm39)	M166K	probably benign	Het
Chd1l	T	A	3: 97,488,463 (GRCm39)	K518*	probably null	Het
Col24a1	A	G	3: 145,250,960 (GRCm39)	D1653G	probably benign	Het
Cstf3	G	T	2: 104,483,370 (GRCm39)	V359F	possibly damaging	Het
Dchs2	T	C	3: 83,178,193 (GRCm39)	I1082T	probably damaging	Het
Dlec1	A	T	9: 118,956,533 (GRCm39)	I736F	probably damaging	Het
Dnah9	T	C	11: 65,818,475 (GRCm39)	N3288D	probably benign	Het
Dpcd	G	T	19: 45,560,422 (GRCm39)	E82*	probably null	Het
Ehbp1	T	C	11: 22,119,124 (GRCm39)	D182G	probably damaging	Het
Eif1ad13	A	G	12: 87,762,507 (GRCm39)	I76V	probably benign	Het
Evc2	G	T	5: 37,544,130 (GRCm39)	E626D	probably benign	Het
Evi5	T	C	5: 107,943,578 (GRCm39)	E589G	probably benign	Het
Exoc4	T	C	6: 33,226,161 (GRCm39)	I25T	probably benign	Het
Extl2	T	A	3: 115,821,145 (GRCm39)	*331R	probably null	Het
Fkbp8	G	A	8: 70,984,324 (GRCm39)	R225H	probably damaging	Het
Foxred2	A	T	15: 77,836,206 (GRCm39)	S384T	probably damaging	Het
Garre1	A	T	7: 33,947,656 (GRCm39)	C451S	probably damaging	Het
Glmn	T	C	5: 107,741,731 (GRCm39)	E18G	probably damaging	Het
Gm7489	A	C	15: 53,749,369 (GRCm39)	Q147P	unknown	Het
Gm7489	C	A	15: 53,749,368 (GRCm39)	Q147K	unknown	Het
Gm8005	T	A	14: 42,260,355 (GRCm39)	I94F		Het
Golgb1	G	A	16: 36,739,967 (GRCm39)	V2810M	probably benign	Het
Gpr21	T	C	2: 37,408,399 (GRCm39)	L315P	probably damaging	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Herc6	T	G	6: 57,629,017 (GRCm39)	S643A	probably benign	Het
Igkv14-100	T	A	6: 68,496,317 (GRCm39)	I70N	probably damaging	Het
Kcnn3	A	G	3: 89,516,703 (GRCm39)	M371V	probably benign	Het
Kif1a	T	A	1: 92,953,416 (GRCm39)	H1256L	probably damaging	Het
Klhdc4	A	G	8: 122,527,917 (GRCm39)	S266P	possibly damaging	Het
Kmt2d	CTGTTG	CTG	15: 98,743,057 (GRCm39)		probably benign	Het
Lefty2	T	A	1: 180,722,286 (GRCm39)	L208Q	probably damaging	Het
Lingo2	T	C	4: 35,708,450 (GRCm39)	Y510C	probably damaging	Het
Lrif1	T	A	3: 106,639,200 (GRCm39)	V70D	probably damaging	Het
Lrrc74a	A	T	12: 86,805,345 (GRCm39)	K389I	possibly damaging	Het
Megf8	A	T	7: 25,054,488 (GRCm39)	E1868V	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mmp8	A	G	9: 7,560,608 (GRCm39)	D95G	probably damaging	Het
Mmrn1	T	A	6: 60,953,408 (GRCm39)	I563N	probably damaging	Het
Mroh3	T	C	1: 136,118,713 (GRCm39)	T535A	probably benign	Het
Mroh9	A	G	1: 162,866,498 (GRCm39)	L715P	probably damaging	Het
Myh6	G	T	14: 55,201,054 (GRCm39)	A136E	probably benign	Het
Myom1	G	T	17: 71,412,475 (GRCm39)	E1231*	probably null	Het
Nos2	T	A	11: 78,839,984 (GRCm39)	W698R	probably damaging	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Oas1a	A	T	5: 121,040,028 (GRCm39)	S188T	possibly damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Opa1	T	C	16: 29,430,255 (GRCm39)	M394T		Het
Or1e1d-ps1	T	A	11: 73,819,375 (GRCm39)	D108E	possibly damaging	Het
Or5an6	A	T	19: 12,371,983 (GRCm39)	M119L	probably damaging	Het
Or5p66	A	G	7: 107,885,487 (GRCm39)	M282T	probably benign	Het
Or7g21	T	A	9: 19,032,760 (GRCm39)	S167T	probably benign	Het
Or7g29	A	G	9: 19,286,677 (GRCm39)	S167P	possibly damaging	Het
Oxct2a	T	A	4: 123,217,129 (GRCm39)	D84V	probably damaging	Het
Oxct2b	A	C	4: 123,011,019 (GRCm39)	D313A	probably damaging	Het
Phldb3	G	A	7: 24,328,372 (GRCm39)	V639M	probably damaging	Het
Plppr4	T	A	3: 117,115,610 (GRCm39)	N749I	probably benign	Het
Pmp22	G	T	11: 63,024,065 (GRCm39)	V25F	probably benign	Het
Pofut2	A	T	10: 77,101,763 (GRCm39)	M267L	probably benign	Het
Ppp1r42	T	A	1: 10,039,067 (GRCm39)	N351I	possibly damaging	Het
Prl2b1	T	C	13: 27,572,479 (GRCm39)	E37G	probably benign	Het
Ptpro	G	T	6: 137,391,318 (GRCm39)	V813F	probably benign	Het
Rnaseh2c	T	C	19: 5,652,343 (GRCm39)	F99L	probably benign	Het
Scn9a	T	A	2: 66,363,708 (GRCm39)	I857F	probably damaging	Het
Slf1	A	G	13: 77,197,204 (GRCm39)		probably null	Het
Smyd2	T	C	1: 189,612,983 (GRCm39)	*434W	probably null	Het
Spata31h1	T	A	10: 82,125,453 (GRCm39)	N2519I	possibly damaging	Het
Stk40	A	G	4: 126,030,650 (GRCm39)	D290G	probably damaging	Het
Tdo2	C	A	3: 81,879,001 (GRCm39)	W82C	probably damaging	Het
Tmem101	A	G	11: 102,044,194 (GRCm39)	V231A	probably damaging	Het
Tns2	G	A	15: 102,015,577 (GRCm39)	E160K	probably damaging	Het
Trim31	A	T	17: 37,212,551 (GRCm39)	D174V	probably benign	Het
Unc13d	A	T	11: 115,961,144 (GRCm39)	Y404*	probably null	Het
Ush2a	C	A	1: 188,092,063 (GRCm39)	Y531*	probably null	Het
Vapa	G	A	17: 65,889,736 (GRCm39)	P144S	probably benign	Het
Vmn1r212	C	T	13: 23,067,443 (GRCm39)	V297M	possibly damaging	Het
Vmn2r80	A	C	10: 79,030,712 (GRCm39)	N846T	probably damaging	Het
Zfp811	A	G	17: 33,017,740 (GRCm39)	V100A	probably benign	Het
Zfp958	T	A	8: 4,678,298 (GRCm39)	C108S	probably damaging	Het
Zic5	G	A	14: 122,697,100 (GRCm39)	T505I	unknown	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
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
Z1088:Nod2	UTSW	8	89,390,774 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGTCTCTATCTGCATGAGGTAC -3'
(R):5'- GTTGAAGAGACTGCTGGGTTCC -3'

Sequencing Primer
(F):5'- AGGTACTCTGCCCTTCTGG -3'
(R):5'- TCAAACAGGGGAGTCCT -3'

Posted On

2022-09-12