Mutagenetix > Incidental Mutation

Incidental Mutation 'R5807:Ripk3'

448610

Institutional Source

Beutler Lab

Gene Symbol

Ripk3

Ensembl Gene

ENSMUSG00000022221

Gene Name

receptor-interacting serine-threonine kinase 3

Synonyms

2610528K09Rik, Rip3

MMRRC Submission

043393-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5807 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56022452-56026314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56022755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 390 (N390Y)

Ref Sequence

ENSEMBL: ENSMUSP00000137278 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002398] [ENSMUST00000022830] [ENSMUST00000168716] [ENSMUST00000170223] [ENSMUST00000178399] [ENSMUST00000227031] [ENSMUST00000228476] [ENSMUST00000228326]

AlphaFold

Q9QZL0

Predicted Effect

probably benign
Transcript: ENSMUST00000002398

SMART Domains

Protein: ENSMUSP00000002398
Gene: ENSMUSG00000022220

Domain	Start	End	E-Value	Type
low complexity region	28	48	N/A	INTRINSIC
low complexity region	66	80	N/A	INTRINSIC
low complexity region	145	161	N/A	INTRINSIC
CYCc	218	426	1.56e-62	SMART
Pfam:DUF1053	479	581	2.4e-35	PFAM
transmembrane domain	607	629	N/A	INTRINSIC
transmembrane domain	661	683	N/A	INTRINSIC
transmembrane domain	717	739	N/A	INTRINSIC
transmembrane domain	746	768	N/A	INTRINSIC
transmembrane domain	792	809	N/A	INTRINSIC
CYCc	835	1057	4.46e-40	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000022830
AA Change: N454Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022830
Gene: ENSMUSG00000022221
AA Change: N454Y

Domain	Start	End	E-Value	Type
Pfam:Pkinase	22	288	2.8e-38	PFAM
Pfam:Pkinase_Tyr	22	288	3e-34	PFAM
Pfam:RHIM	408	458	2.4e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000168716
AA Change: N390Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126306
Gene: ENSMUSG00000022221
AA Change: N390Y

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	223	1.2e-30	PFAM
Pfam:Pkinase_Tyr	1	224	3.1e-27	PFAM
Pfam:RHIM	344	395	2.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170223

SMART Domains

Protein: ENSMUSP00000130530
Gene: ENSMUSG00000022220

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC
transmembrane domain	61	80	N/A	INTRINSIC
transmembrane domain	92	114	N/A	INTRINSIC
transmembrane domain	119	138	N/A	INTRINSIC
transmembrane domain	145	162	N/A	INTRINSIC
transmembrane domain	172	194	N/A	INTRINSIC
CYCc	218	426	1.56e-62	SMART
Pfam:DUF1053	479	581	1.6e-24	PFAM
transmembrane domain	607	629	N/A	INTRINSIC
transmembrane domain	661	683	N/A	INTRINSIC
transmembrane domain	717	739	N/A	INTRINSIC
transmembrane domain	746	768	N/A	INTRINSIC
transmembrane domain	792	809	N/A	INTRINSIC
CYCc	835	1057	4.46e-40	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000178399
AA Change: N390Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137278
Gene: ENSMUSG00000022221
AA Change: N390Y

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	223	1.2e-30	PFAM
Pfam:Pkinase_Tyr	1	224	3.1e-27	PFAM
Pfam:RHIM	344	395	2.4e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226203

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226361

Predicted Effect

probably benign
Transcript: ENSMUST00000227031

Predicted Effect

probably benign
Transcript: ENSMUST00000228476

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228175

Predicted Effect

probably benign
Transcript: ENSMUST00000228326

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228077

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227072

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (65/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases, and contains a C-terminal domain unique from other RIP family members. The encoded protein is predominantly localized to the cytoplasm, and can undergo nucleocytoplasmic shuttling dependent on novel nuclear localization and export signals. It is a component of the tumor necrosis factor (TNF) receptor-I signaling complex, and can induce apoptosis and weakly activate the NF-kappaB transcription factor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out alleles exhibit resistance to induced inflammatory responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,342,651 (GRCm39)	L943P	probably damaging	Het
Abcg5	C	A	17: 84,979,719 (GRCm39)	V214F	probably damaging	Het
Ang	T	A	14: 51,338,886 (GRCm39)		probably benign	Het
Arfgef3	A	G	10: 18,523,546 (GRCm39)		probably null	Het
Arhgef4	A	G	1: 34,846,696 (GRCm39)		probably benign	Het
Atp11b	T	C	3: 35,866,428 (GRCm39)	I409T	probably damaging	Het
Atp5f1b	G	A	10: 127,924,431 (GRCm39)		probably benign	Het
Atp9a	G	A	2: 168,495,454 (GRCm39)	A660V	probably damaging	Het
Avpr1a	A	G	10: 122,285,376 (GRCm39)	T223A	probably benign	Het
Bmp2k	T	C	5: 97,211,353 (GRCm39)	M507T	unknown	Het
Cep295	A	G	9: 15,243,828 (GRCm39)	S287P	probably damaging	Het
Chrna7	T	A	7: 62,798,349 (GRCm39)	D111V	probably damaging	Het
Clxn	A	T	16: 14,734,836 (GRCm39)	I69F	probably benign	Het
Cnr2	A	G	4: 135,644,747 (GRCm39)	D275G	probably benign	Het
Col28a1	T	A	6: 8,158,144 (GRCm39)	M305L	probably benign	Het
Cpb1	T	A	3: 20,317,906 (GRCm39)	D206V	probably damaging	Het
Cyp2c50	T	C	19: 40,101,944 (GRCm39)	L453S	probably damaging	Het
Ddx52	T	G	11: 83,840,508 (GRCm39)	S284A	probably benign	Het
Eif2ak4	G	T	2: 118,219,332 (GRCm39)	R48L	probably benign	Het
Esrrb	A	G	12: 86,561,175 (GRCm39)	E303G	possibly damaging	Het
Fbxo21	A	G	5: 118,114,933 (GRCm39)	E23G	probably benign	Het
Fcamr	T	C	1: 130,739,263 (GRCm39)	S188P	probably damaging	Het
Fer1l6	C	A	15: 58,462,399 (GRCm39)	S818*	probably null	Het
Fn1	T	C	1: 71,687,218 (GRCm39)	D213G	probably damaging	Het
Gcg	A	G	2: 62,306,069 (GRCm39)	I176T	possibly damaging	Het
Glis1	T	A	4: 107,425,279 (GRCm39)	S109T	probably benign	Het
Gm266	T	C	12: 111,452,173 (GRCm39)	D11G	probably benign	Het
Gm5070	C	A	3: 95,317,965 (GRCm39)		noncoding transcript	Het
Gm8444	T	C	15: 81,727,654 (GRCm39)		probably benign	Het
Golga4	A	G	9: 118,356,198 (GRCm39)	T117A	probably damaging	Het
Gpr132	G	A	12: 112,816,416 (GRCm39)	R137C	probably damaging	Het
Gvin-ps5	T	A	7: 105,929,430 (GRCm39)		noncoding transcript	Het
Herc2	T	A	7: 55,880,667 (GRCm39)	F4766L	probably damaging	Het
Inhbc	C	A	10: 127,193,411 (GRCm39)	E202*	probably null	Het
Kcnu1	C	T	8: 26,339,742 (GRCm39)	T20I	possibly damaging	Het
Klhdc3	T	C	17: 46,988,391 (GRCm39)	D161G	probably damaging	Het
Krt84	T	A	15: 101,438,647 (GRCm39)	K280M	probably damaging	Het
Krtap9-5	T	A	11: 99,839,895 (GRCm39)	C199S	unknown	Het
Mrgprb3	A	G	7: 48,293,110 (GRCm39)	V147A	probably benign	Het
Ndufs6	A	T	13: 73,475,553 (GRCm39)	F48L	probably damaging	Het
Obscn	T	C	11: 58,970,476 (GRCm39)	S2586G	probably damaging	Het
Or10n1	A	G	9: 39,525,759 (GRCm39)	R299G	probably benign	Het
Or13c7b	C	A	4: 43,820,912 (GRCm39)	V150L	probably benign	Het
Or51a25	C	T	7: 102,373,409 (GRCm39)	R96H	possibly damaging	Het
Osbpl6	A	G	2: 76,414,857 (GRCm39)	D416G	probably damaging	Het
Pdilt	A	G	7: 119,099,766 (GRCm39)		probably benign	Het
Phf12	C	A	11: 77,913,252 (GRCm39)	D401E	probably benign	Het
Pla2r1	C	T	2: 60,259,065 (GRCm39)	V1108M	possibly damaging	Het
Prim2	A	G	1: 33,519,487 (GRCm39)		probably benign	Het
Ptpn6	T	C	6: 124,701,947 (GRCm39)	H406R	probably benign	Het
Qpctl	G	T	7: 18,877,132 (GRCm39)	H329N	probably damaging	Het
Rnase1	A	G	14: 51,382,907 (GRCm39)	V149A	probably benign	Het
Rtn3	T	A	19: 7,434,192 (GRCm39)	D581V	probably damaging	Het
Slamf1	A	G	1: 171,602,630 (GRCm39)	Y119C	probably damaging	Het
Slc25a34	A	G	4: 141,350,973 (GRCm39)	M12T	probably benign	Het
Tmem38a	A	G	8: 73,333,944 (GRCm39)	Y141C	probably damaging	Het
Tnr	C	T	1: 159,714,500 (GRCm39)	T793I	possibly damaging	Het
Tns3	T	C	11: 8,443,211 (GRCm39)	D384G	probably damaging	Het
Vmn2r116	T	A	17: 23,606,281 (GRCm39)	Y398N	probably damaging	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het

Other mutations in Ripk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01386:Ripk3	APN	14	56,023,484 (GRCm39)	missense	probably damaging	1.00
IGL02073:Ripk3	APN	14	56,023,482 (GRCm39)	critical splice donor site	probably null
IGL02420:Ripk3	APN	14	56,022,691 (GRCm39)	missense	probably benign	0.02
IGL03033:Ripk3	APN	14	56,024,622 (GRCm39)	unclassified	probably benign
IGL03036:Ripk3	APN	14	56,024,796 (GRCm39)	missense	probably benign	0.01
R0211:Ripk3	UTSW	14	56,025,375 (GRCm39)	missense	probably damaging	1.00
R0352:Ripk3	UTSW	14	56,024,200 (GRCm39)	unclassified	probably benign
R0366:Ripk3	UTSW	14	56,024,292 (GRCm39)	missense	probably damaging	0.99
R0634:Ripk3	UTSW	14	56,025,848 (GRCm39)	unclassified	probably benign
R1364:Ripk3	UTSW	14	56,022,717 (GRCm39)	splice site	probably null
R1665:Ripk3	UTSW	14	56,023,808 (GRCm39)	missense	probably benign	0.24
R1794:Ripk3	UTSW	14	56,022,786 (GRCm39)	missense	probably benign	0.45
R1886:Ripk3	UTSW	14	56,025,694 (GRCm39)	critical splice donor site	probably null
R2517:Ripk3	UTSW	14	56,025,492 (GRCm39)	missense	probably damaging	0.97
R3409:Ripk3	UTSW	14	56,025,698 (GRCm39)	missense	probably damaging	0.99
R3806:Ripk3	UTSW	14	56,023,725 (GRCm39)	missense	probably benign	0.00
R7138:Ripk3	UTSW	14	56,025,803 (GRCm39)	missense	probably benign
R7278:Ripk3	UTSW	14	56,024,741 (GRCm39)	nonsense	probably null
R8064:Ripk3	UTSW	14	56,025,383 (GRCm39)	missense	possibly damaging	0.94
R9227:Ripk3	UTSW	14	56,023,303 (GRCm39)	missense	probably benign	0.03
R9230:Ripk3	UTSW	14	56,023,303 (GRCm39)	missense	probably benign	0.03
R9775:Ripk3	UTSW	14	56,023,252 (GRCm39)	missense	unknown
Z1088:Ripk3	UTSW	14	56,025,383 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CCAGGTTGCTTAAAACGTGC -3'
(R):5'- AAGAGGCACAGCTCATACTGG -3'

Sequencing Primer
(F):5'- AAAACGTGCTTTTTATTGCCACGC -3'
(R):5'- CAGGTGAAGACCCTGCATTTG -3'

Posted On

2016-12-15