Mutagenetix > Incidental Mutation

Incidental Mutation 'R0211:Ripk3'

35565

Institutional Source

Beutler Lab

Gene Symbol

Ripk3

Ensembl Gene

ENSMUSG00000022221

Gene Name

receptor-interacting serine-threonine kinase 3

Synonyms

2610528K09Rik, Rip3

MMRRC Submission

038462-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0211 (G1)

Quality Score

205

Status

Not validated

Chromosome

Chromosomal Location

56022452-56026314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56025375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 63 (L63Q)

Ref Sequence

ENSEMBL: ENSMUSP00000154235 (fasta)

Gene Model

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

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: L127Q

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

SMART Domains

Protein: ENSMUSP00000022830
Gene: ENSMUSG00000022221
AA Change: L127Q

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: L63Q

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

SMART Domains

Protein: ENSMUSP00000126306
Gene: ENSMUSG00000022221
AA Change: L63Q

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: L63Q

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

SMART Domains

Protein: ENSMUSP00000137278
Gene: ENSMUSG00000022221
AA Change: L63Q

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 damaging
Transcript: ENSMUST00000228326
AA Change: L63Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228175

Predicted Effect

probably benign
Transcript: ENSMUST00000227031

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227072

Predicted Effect

probably benign
Transcript: ENSMUST00000228476

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228077

Coding Region Coverage

1x: 98.2%
3x: 97.0%
10x: 94.6%
20x: 89.0%

Validation Efficiency

100% (1/1)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,262,870 (GRCm39)	L1401P	possibly damaging	Het
4930503B20Rik	C	T	3: 146,356,251 (GRCm39)	R219H	probably benign	Het
Abcc9	T	A	6: 142,634,710 (GRCm39)	I185F	probably benign	Het
Adgrf1	T	C	17: 43,607,581 (GRCm39)	L100P	probably damaging	Het
Akt1	T	C	12: 112,621,576 (GRCm39)	T407A	probably damaging	Het
Alk	C	T	17: 72,910,511 (GRCm39)	R65H	probably damaging	Het
Aplp2	T	C	9: 31,069,086 (GRCm39)	E525G	probably damaging	Het
Arhgef12	G	A	9: 42,883,300 (GRCm39)	R1411C	probably damaging	Het
Arnt	T	A	3: 95,383,460 (GRCm39)	M242K	probably damaging	Het
Atad5	T	G	11: 79,986,473 (GRCm39)	V520G	probably benign	Het
Avpr1a	T	A	10: 122,285,374 (GRCm39)	M222K	possibly damaging	Het
Cbr2	T	A	11: 120,621,614 (GRCm39)	I88L	probably benign	Het
Cc2d2a	T	A	5: 43,845,608 (GRCm39)		probably null	Het
Ccdc51	T	C	9: 108,918,441 (GRCm39)	M10T	probably benign	Het
Cntnap5b	T	A	1: 100,406,099 (GRCm39)	D1136E	possibly damaging	Het
Coil	T	A	11: 88,872,979 (GRCm39)	S447T	probably damaging	Het
Cryba1	T	A	11: 77,609,693 (GRCm39)	Y179F	probably damaging	Het
Dcaf4	T	A	12: 83,582,735 (GRCm39)	F277I	probably damaging	Het
Ddost	G	A	4: 138,036,913 (GRCm39)	V159M	probably damaging	Het
Dnaaf4	A	T	9: 72,868,649 (GRCm39)	R127S	possibly damaging	Het
Dnajb6	T	C	5: 29,990,077 (GRCm39)		probably benign	Het
Dnase2a	A	G	8: 85,635,417 (GRCm39)		probably benign	Het
Dscam	T	C	16: 96,517,279 (GRCm39)	I877V	possibly damaging	Het
Efcc1	A	T	6: 87,726,136 (GRCm39)	T312S	probably benign	Het
Elp1	T	A	4: 56,795,545 (GRCm39)	I143F	probably damaging	Het
Ermard	A	T	17: 15,242,205 (GRCm39)	Q127L	probably damaging	Het
F2	T	C	2: 91,460,503 (GRCm39)	E329G	probably damaging	Het
Foxc2	T	A	8: 121,843,355 (GRCm39)	M1K	probably null	Het
Fuz	T	A	7: 44,548,446 (GRCm39)		probably null	Het
Ggnbp2	G	A	11: 84,731,139 (GRCm39)	T325M	probably damaging	Het
Gm6408	T	A	5: 146,419,870 (GRCm39)	F115I	probably benign	Het
Gp6	C	T	7: 4,376,208 (GRCm39)		probably null	Het
Grin2a	A	G	16: 9,397,037 (GRCm39)	S1017P	possibly damaging	Het
H2-T5	T	C	17: 36,478,899 (GRCm39)	T117A	probably damaging	Het
Hmmr	A	T	11: 40,605,635 (GRCm39)	M318K	probably damaging	Het
Ifi205	T	C	1: 173,855,994 (GRCm39)	E12G	probably benign	Het
Ift74	C	T	4: 94,567,492 (GRCm39)	T395I	probably benign	Het
Irf8	A	T	8: 121,466,714 (GRCm39)	D53V	probably damaging	Het
Itgad	A	G	7: 127,803,813 (GRCm39)	Y69C	probably damaging	Het
Itpr2	C	A	6: 146,096,111 (GRCm39)	R2084L	probably benign	Het
Krt4	C	A	15: 101,831,217 (GRCm39)	S228I	possibly damaging	Het
Lpin3	A	T	2: 160,740,601 (GRCm39)	D382V	probably damaging	Het
Ltbp3	T	C	19: 5,802,171 (GRCm39)		probably null	Het
Map4k3	C	T	17: 80,952,270 (GRCm39)	A179T	probably damaging	Het
Nck1	A	T	9: 100,379,820 (GRCm39)	W144R	probably damaging	Het
Ndufb9	A	T	15: 58,811,131 (GRCm39)	Q139L	possibly damaging	Het
Ngfr	T	G	11: 95,462,738 (GRCm39)	E300A	probably damaging	Het
Nin	T	G	12: 70,061,649 (GRCm39)	T2072P	probably damaging	Het
Nop2	T	G	6: 125,118,307 (GRCm39)	L529R	probably damaging	Het
Nrm	T	A	17: 36,175,503 (GRCm39)	L203Q	probably damaging	Het
Nynrin	T	C	14: 56,109,255 (GRCm39)	F1454S	probably benign	Het
Or10ak7	T	A	4: 118,791,467 (GRCm39)	M191L	probably benign	Het
Or5b101	T	C	19: 13,005,646 (GRCm39)	T16A	possibly damaging	Het
Or8j3c	A	C	2: 86,253,451 (GRCm39)	S190A	probably damaging	Het
Os9	A	G	10: 126,956,905 (GRCm39)	V27A	probably damaging	Het
Osbpl9	T	G	4: 108,930,321 (GRCm39)	T332P	probably damaging	Het
Pcdhb10	A	T	18: 37,547,059 (GRCm39)	M712L	probably benign	Het
Pcx	C	T	19: 4,670,227 (GRCm39)	A935V	probably damaging	Het
Pdzd7	A	G	19: 45,022,106 (GRCm39)	V514A	possibly damaging	Het
Plin4	C	T	17: 56,409,242 (GRCm39)	G1326D	probably damaging	Het
Plxnb1	T	A	9: 108,932,731 (GRCm39)	Y568*	probably null	Het
Pmfbp1	T	A	8: 110,268,372 (GRCm39)	V973D	probably benign	Het
Ppp2r1b	T	C	9: 50,772,925 (GRCm39)	V70A	probably benign	Het
Prkar2b	C	A	12: 32,022,183 (GRCm39)	V201L	probably benign	Het
Rgr	T	G	14: 36,768,925 (GRCm39)	T37P	probably damaging	Het
Rpusd2	A	G	2: 118,868,893 (GRCm39)	S439G	probably benign	Het
Serac1	T	A	17: 6,100,335 (GRCm39)	R438S	possibly damaging	Het
Slc19a1	T	A	10: 76,874,300 (GRCm39)	S24T	possibly damaging	Het
Slc6a21	A	C	7: 44,937,667 (GRCm39)	T653P	possibly damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spdef	C	T	17: 27,933,894 (GRCm39)	R309H	probably damaging	Het
Srp68	A	T	11: 116,156,377 (GRCm39)	Y84N	probably damaging	Het
Syne2	A	T	12: 76,144,731 (GRCm39)	Q6299L	probably damaging	Het
Tmem63b	T	A	17: 45,972,839 (GRCm39)	M652L	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tnk1	A	G	11: 69,746,007 (GRCm39)	V306A	probably damaging	Het
Tnnc2	T	A	2: 164,619,404 (GRCm39)	I147F	probably damaging	Het
Tnni3k	C	T	3: 154,760,981 (GRCm39)		probably benign	Het
Togaram2	T	A	17: 72,036,243 (GRCm39)	V911D	probably damaging	Het
Tyw3	T	C	3: 154,293,132 (GRCm39)	N181S	probably damaging	Het
Unc79	T	A	12: 103,039,051 (GRCm39)	S682T	probably benign	Het
Vps13d	A	G	4: 144,841,348 (GRCm39)	L2634S	probably benign	Het
Wasl	G	T	6: 24,633,892 (GRCm39)	A124E	probably damaging	Het
Zfp287	T	C	11: 62,605,743 (GRCm39)	H388R	probably damaging	Het
Zfp335	T	C	2: 164,749,612 (GRCm39)	T262A	probably damaging	Het
Zfp457	C	G	13: 67,441,211 (GRCm39)	G359R	probably benign	Het
Zfp536	T	A	7: 37,267,874 (GRCm39)	E514V	probably damaging	Het
Zfp872	T	A	9: 22,111,469 (GRCm39)	I316N	probably damaging	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
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
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'- GACAGGTACTCAACATGGTCCCAAG -3'
(R):5'- TTCCTCTGGTGAGCCGTGAAGAAC -3'

Sequencing Primer
(F):5'- GGTCCCAAGTCTACACTAGGTTG -3'
(R):5'- GAGCGCAATCCAATTTTGGC -3'

Posted On

2013-05-09