Mutagenetix > Incidental Mutation

Incidental Mutation 'R7138:Ripk3'

553224

Institutional Source

Beutler Lab

Gene Symbol

Ripk3

Ensembl Gene

ENSMUSG00000022221

Gene Name

receptor-interacting serine-threonine kinase 3

Synonyms

2610528K09Rik, Rip3

MMRRC Submission

045249-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7138 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56022452-56026314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 56025803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 19 (R19L)

Ref Sequence

ENSEMBL: ENSMUSP00000022830 (fasta)

Gene Model

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

AlphaFold

Q9QZL0

PDB Structure

Crystal structure of the mouse RIP3 kinase domain [X-RAY DIFFRACTION]
Crystal structure of the mouse RIP3-MLKL complex [X-RAY DIFFRACTION]

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 benign
Transcript: ENSMUST00000022830
AA Change: R19L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022830
Gene: ENSMUSG00000022221
AA Change: R19L

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 benign
Transcript: ENSMUST00000168716

SMART Domains

Protein: ENSMUSP00000126306
Gene: ENSMUSG00000022221

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 benign
Transcript: ENSMUST00000178399

SMART Domains

Protein: ENSMUSP00000137278
Gene: ENSMUSG00000022221

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: ENSMUST00000227031

Predicted Effect

probably benign
Transcript: ENSMUST00000228326

Predicted Effect

probably benign
Transcript: ENSMUST00000228476

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,899,113 (GRCm39)	C698*	probably null	Het
Acacb	G	A	5: 114,345,387 (GRCm39)	V947M	probably benign	Het
Acadsb	T	G	7: 131,042,968 (GRCm39)	L343R	probably damaging	Het
Adgrf2	C	T	17: 43,021,874 (GRCm39)	E317K	probably damaging	Het
Agap2	A	G	10: 126,923,154 (GRCm39)	T663A	unknown	Het
Akap8	A	T	17: 32,535,515 (GRCm39)	F166L	possibly damaging	Het
Ankrd17	A	T	5: 90,390,836 (GRCm39)	M2278K	probably benign	Het
Avl9	T	C	6: 56,705,242 (GRCm39)	S148P	probably damaging	Het
Brf1	T	C	12: 112,933,835 (GRCm39)	E266G	probably damaging	Het
Cabin1	T	C	10: 75,581,187 (GRCm39)	K380E	probably damaging	Het
Catsper2	T	C	2: 121,227,544 (GRCm39)	D542G	possibly damaging	Het
Cbln4	C	A	2: 171,884,095 (GRCm39)	D42Y	probably damaging	Het
Ccn6	T	A	10: 39,034,473 (GRCm39)	Q43L	possibly damaging	Het
Cd5	C	T	19: 10,697,668 (GRCm39)	R437Q	probably damaging	Het
Ceacam18	G	C	7: 43,288,706 (GRCm39)	E152D	possibly damaging	Het
Chd8	A	G	14: 52,451,955 (GRCm39)	S1347P	possibly damaging	Het
Chodl	T	G	16: 78,738,335 (GRCm39)	I101R	probably damaging	Het
Clk4	T	G	11: 51,168,759 (GRCm39)	F377L	probably damaging	Het
Cntnap3	C	T	13: 64,929,539 (GRCm39)		probably null	Het
Dab2	A	G	15: 6,458,780 (GRCm39)	S231G	probably benign	Het
Disp2	T	A	2: 118,617,361 (GRCm39)	H118Q	probably benign	Het
Dnah10	T	C	5: 124,900,009 (GRCm39)	F3869S	probably damaging	Het
Edil3	C	T	13: 89,279,847 (GRCm39)	T175I	probably damaging	Het
Eif1ad18	T	G	12: 88,050,648 (GRCm39)	I61R	probably damaging	Het
Fap	A	G	2: 62,372,522 (GRCm39)	S319P	probably benign	Het
Frmpd2	T	A	14: 33,293,761 (GRCm39)	V1309E	probably benign	Het
Galntl5	T	A	5: 25,394,842 (GRCm39)	S70T	probably benign	Het
Gm5622	G	T	14: 51,893,339 (GRCm39)	E89*	probably null	Het
Gna15	G	A	10: 81,343,881 (GRCm39)	T260M	probably damaging	Het
Gucy2c	A	G	6: 136,705,342 (GRCm39)	I531T	probably damaging	Het
Heatr5b	A	G	17: 79,135,417 (GRCm39)	V238A	probably damaging	Het
Htr2a	A	G	14: 74,943,182 (GRCm39)	Y254C	probably damaging	Het
Inpp5b	A	G	4: 124,679,065 (GRCm39)	R491G	probably damaging	Het
Kcnt2	C	T	1: 140,523,778 (GRCm39)	L1093F	possibly damaging	Het
Kcp	C	A	6: 29,491,861 (GRCm39)	E922*	probably null	Het
Lrp2	G	A	2: 69,296,089 (GRCm39)	A3340V	possibly damaging	Het
Lrrn1	T	G	6: 107,545,336 (GRCm39)	V378G	probably damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Net1	G	A	13: 3,938,510 (GRCm39)	R126C	probably damaging	Het
Nipsnap3a	T	C	4: 52,993,978 (GRCm39)	C20R	probably benign	Het
Nxpe2	C	T	9: 48,232,006 (GRCm39)	C317Y	probably damaging	Het
Or10v9	T	A	19: 11,832,652 (GRCm39)	I222F	probably damaging	Het
Or52h1	T	C	7: 103,829,504 (GRCm39)	Y37C	probably damaging	Het
Or8b8	T	C	9: 37,809,360 (GRCm39)	I220T	probably damaging	Het
Or8g54	T	G	9: 39,707,086 (GRCm39)	Y138*	probably null	Het
Orm1	T	A	4: 63,262,949 (GRCm39)	W39R	probably damaging	Het
Pds5b	A	T	5: 150,724,142 (GRCm39)	K1240*	probably null	Het
Pdss1	T	A	2: 22,802,681 (GRCm39)	H173Q	probably damaging	Het
Pebp1	A	G	5: 117,423,882 (GRCm39)	W84R	probably damaging	Het
Pla2g4e	C	T	2: 120,001,759 (GRCm39)	C630Y	probably damaging	Het
Plaat3	T	A	19: 7,556,550 (GRCm39)	V117E	probably damaging	Het
Plekho2	G	T	9: 65,463,635 (GRCm39)	Q405K	probably benign	Het
Plppr2	T	A	9: 21,855,708 (GRCm39)	V227E	probably damaging	Het
Pphln1-ps1	T	A	16: 13,495,589 (GRCm39)	D229E	probably benign	Het
Rapgef4	T	C	2: 72,028,707 (GRCm39)	S393P	probably damaging	Het
Rapgefl1	A	G	11: 98,737,900 (GRCm39)		probably null	Het
Rnase10	G	T	14: 51,247,167 (GRCm39)	V182F	probably damaging	Het
Rsf1	T	A	7: 97,319,002 (GRCm39)	S917R		Het
Sephs2	T	C	7: 126,872,187 (GRCm39)	N302S	possibly damaging	Het
Slc13a2	C	T	11: 78,289,950 (GRCm39)	V455M	possibly damaging	Het
Slc30a2	A	T	4: 134,071,429 (GRCm39)	D54V	probably benign	Het
Slco6c1	T	C	1: 97,047,706 (GRCm39)	E199G	possibly damaging	Het
Snx27	A	T	3: 94,436,247 (GRCm39)	M256K	probably benign	Het
Spag4	T	A	2: 155,908,519 (GRCm39)	S150T	probably benign	Het
Spon1	T	A	7: 113,635,945 (GRCm39)	C720S	probably damaging	Het
Tbc1d22a	T	C	15: 86,123,356 (GRCm39)	S166P	probably benign	Het
Tbc1d9	T	C	8: 83,937,113 (GRCm39)	I65T	probably damaging	Het
Tmem176a	T	A	6: 48,820,953 (GRCm39)	V141D	probably damaging	Het
Tmem268	G	A	4: 63,480,687 (GRCm39)		probably benign	Het
Tonsl	A	G	15: 76,518,976 (GRCm39)	V519A	probably benign	Het
Ttn	G	A	2: 76,612,376 (GRCm39)	P17204S	possibly damaging	Het
Wrap53	T	A	11: 69,454,694 (GRCm39)	D225V	probably benign	Het
Zfhx4	G	A	3: 5,477,107 (GRCm39)	A3241T	possibly damaging	Het
Zfp1002	T	C	2: 150,097,372 (GRCm39)	H47R	probably damaging	Het
Znfx1	T	C	2: 166,898,697 (GRCm39)	R76G	probably benign	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
R5807:Ripk3	UTSW	14	56,022,755 (GRCm39)	missense	probably damaging	1.00
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'- TTCTTCCTACACGCCGAAAG -3'
(R):5'- CTTTTCTGAGGCAGGGGACAAAG -3'

Sequencing Primer
(F):5'- ATTGCGCTCTGGAAGACC -3'
(R):5'- CAAAGCTGGGGGTGAGGC -3'

Posted On

2019-05-15