Mutagenetix > Incidental Mutation

Incidental Mutation 'R9209:Ripk4'

698744

Institutional Source

Beutler Lab

Gene Symbol

Ripk4

Ensembl Gene

ENSMUSG00000005251

Gene Name

receptor-interacting serine-threonine kinase 4

Synonyms

RIP4, ANKK2, Ankrd3, PKK, DIk

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

R9209 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97543133-97564979 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 97551311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 219 (Q219K)

Ref Sequence

ENSEMBL: ENSMUSP00000019386 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019386]

AlphaFold

Q9ERK0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019386
AA Change: Q219K

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000019386
Gene: ENSMUSG00000005251
AA Change: Q219K

Domain	Start	End	E-Value	Type
Pfam:Pkinase	22	283	1.8e-47	PFAM
Pfam:Pkinase_Tyr	23	283	6e-45	PFAM
low complexity region	356	396	N/A	INTRINSIC
ANK	439	468	2.58e-3	SMART
ANK	472	501	3.41e-3	SMART
ANK	505	534	7.42e-4	SMART
ANK	538	567	3.57e-6	SMART
ANK	571	601	3.85e-2	SMART
ANK	605	634	3.15e-7	SMART
ANK	638	667	5.16e-3	SMART
ANK	671	700	2.2e-6	SMART
ANK	704	734	1.68e-2	SMART
ANK	736	765	3.46e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

96% (73/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serine/threonine protein kinase that interacts with protein kinase C-delta. The encoded protein can also activate NFkappaB and is required for keratinocyte differentiation. This kinase undergoes autophosphorylation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene result in perinatal lethality and epithelial developmental defects. Homozygous mutant lack oral, anal, and nasal openings and display shorter hindlimbs and tail that are partially fused to the body. The skin is significantly thicker with areas of orthokeratosis. [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
2610021A01Rik	T	A	7: 41,275,837 (GRCm39)	N513K	possibly damaging	Het
Actl6a	T	A	3: 32,779,469 (GRCm39)	I399N	probably damaging	Het
Adamts5	A	G	16: 85,666,971 (GRCm39)	V507A	probably damaging	Het
Ap3d1	A	G	10: 80,554,918 (GRCm39)	V469A	probably benign	Het
Arhgef4	G	T	1: 34,764,241 (GRCm39)		probably null	Het
Arhgef4	A	T	1: 34,849,576 (GRCm39)	Q389L	probably benign	Het
Atad2	A	G	15: 57,980,194 (GRCm39)	V106A	possibly damaging	Het
Azin2	T	C	4: 128,841,341 (GRCm39)	E275G	probably damaging	Het
Bhlhe23	A	G	2: 180,418,143 (GRCm39)	S132P	probably damaging	Het
Capn12	A	G	7: 28,581,243 (GRCm39)	Y32C	probably damaging	Het
Celsr2	A	T	3: 108,321,349 (GRCm39)	S488T	probably benign	Het
Cenpx	A	G	11: 120,602,582 (GRCm39)	V27A	possibly damaging	Het
Clca3a2	G	A	3: 144,778,005 (GRCm39)	P760L	probably benign	Het
Clstn3	T	C	6: 124,408,571 (GRCm39)	S951G	probably benign	Het
Clybl	C	A	14: 122,621,670 (GRCm39)	P286Q	probably benign	Het
Cmya5	T	A	13: 93,226,866 (GRCm39)	M2741L	probably benign	Het
Cntnap2	G	A	6: 47,026,183 (GRCm39)	G944E	probably damaging	Het
Col8a1	A	C	16: 57,447,283 (GRCm39)	Y742*	probably null	Het
Crb1	T	C	1: 139,171,051 (GRCm39)	K780E	probably damaging	Het
Crygc	T	A	1: 65,112,376 (GRCm39)	Y66F	probably benign	Het
Cyp2b9	G	A	7: 25,873,004 (GRCm39)	G49E	possibly damaging	Het
D130043K22Rik	T	C	13: 25,041,090 (GRCm39)	S171P	possibly damaging	Het
Dhx36	T	C	3: 62,378,895 (GRCm39)	I890V	probably benign	Het
Dpp9	C	T	17: 56,512,765 (GRCm39)	G148S	probably damaging	Het
Eml6	G	T	11: 29,781,175 (GRCm39)	S619Y	probably damaging	Het
Enpp4	A	T	17: 44,412,252 (GRCm39)	L319*	probably null	Het
Esyt1	T	C	10: 128,361,356 (GRCm39)	S113G	probably benign	Het
Fat1	A	G	8: 45,404,791 (GRCm39)	D514G	possibly damaging	Het
Fbxo16	G	A	14: 65,524,594 (GRCm39)	R38Q	probably damaging	Het
Fchsd1	A	T	18: 38,092,706 (GRCm39)	M668K	unknown	Het
Gpr149	C	T	3: 62,511,093 (GRCm39)	S302N	probably benign	Het
Gsap	A	G	5: 21,433,064 (GRCm39)	K258E	probably benign	Het
Helq	C	A	5: 100,939,218 (GRCm39)	V443F	probably benign	Het
Helq	T	A	5: 100,939,219 (GRCm39)	K442N	probably damaging	Het
Ighv1-37	T	C	12: 114,860,123 (GRCm39)	E29G	possibly damaging	Het
Ighv1-9	C	A	12: 114,547,620 (GRCm39)	M1I	probably null	Het
Itga6	T	G	2: 71,671,477 (GRCm39)	F743V	probably benign	Het
Lpin1	C	A	12: 16,588,548 (GRCm39)	D881Y		Het
Lypd8	T	A	11: 58,273,640 (GRCm39)	C40S	possibly damaging	Het
Macf1	C	T	4: 123,326,227 (GRCm39)	R5092Q	probably damaging	Het
Mcm7	A	G	5: 138,166,593 (GRCm39)		probably null	Het
Micall2	G	A	5: 139,696,170 (GRCm39)	T831I	unknown	Het
Myo18b	A	T	5: 113,022,927 (GRCm39)	M155K	unknown	Het
Nckap5	T	A	1: 125,867,928 (GRCm39)	H201L	unknown	Het
Ndst2	A	T	14: 20,779,240 (GRCm39)	D333E	possibly damaging	Het
Nlgn1	A	G	3: 25,966,804 (GRCm39)		probably null	Het
Nup188	T	G	2: 30,232,397 (GRCm39)	Y1483D	probably benign	Het
Or4c109	A	C	2: 88,818,057 (GRCm39)	L163*	probably null	Het
Or52ae9	T	A	7: 103,390,319 (GRCm39)	S43C	probably benign	Het
Or52n4b	A	C	7: 108,144,664 (GRCm39)	I311L	probably benign	Het
Or5p66	T	A	7: 107,885,526 (GRCm39)	Y269F	probably benign	Het
Or8g33	T	A	9: 39,337,635 (GRCm39)	H244L	probably damaging	Het
Peg3	A	C	7: 6,711,226 (GRCm39)	I1332S	possibly damaging	Het
Piezo2	T	C	18: 63,154,372 (GRCm39)	K2469R	probably damaging	Het
Pik3cg	T	C	12: 32,247,312 (GRCm39)	M804V	probably damaging	Het
Polq	A	T	16: 36,869,011 (GRCm39)	I794F	possibly damaging	Het
Rasgef1b	A	G	5: 99,370,191 (GRCm39)	V437A	probably benign	Het
Rdm1	T	A	11: 101,518,857 (GRCm39)	D21E	probably benign	Het
Ropn1l	T	C	15: 31,441,471 (GRCm39)	I217V		Het
Sdf2	T	C	11: 78,136,858 (GRCm39)	S13P	unknown	Het
Selenbp1	A	G	3: 94,847,079 (GRCm39)	T202A	probably benign	Het
Slfn5	T	C	11: 82,850,933 (GRCm39)	F410S	possibly damaging	Het
Srrm2	A	G	17: 24,039,880 (GRCm39)	T2175A	probably benign	Het
St6galnac3	T	C	3: 153,117,360 (GRCm39)	Y121C	possibly damaging	Het
Stat1	A	G	1: 52,184,337 (GRCm39)	N417S	probably benign	Het
Tead1	T	C	7: 112,475,378 (GRCm39)	F276L	probably damaging	Het
Teddm3	A	T	16: 20,971,737 (GRCm39)	S277R	probably benign	Het
Tmc2	A	G	2: 130,103,317 (GRCm39)		probably null	Het
Tmem156	G	A	5: 65,231,127 (GRCm39)	L248F	probably damaging	Het
Tnn	T	C	1: 159,953,986 (GRCm39)	S590G	probably benign	Het
Trmt44	A	G	5: 35,731,422 (GRCm39)		probably null	Het
Upp2	T	A	2: 58,668,022 (GRCm39)	Y238*	probably null	Het
Usp32	T	C	11: 84,930,838 (GRCm39)	T531A	probably damaging	Het
Vmn2r78	A	T	7: 86,569,431 (GRCm39)	D108V	probably benign	Het
Wdfy3	G	T	5: 102,078,830 (GRCm39)	A824E	probably benign	Het
Xylt1	T	C	7: 117,255,870 (GRCm39)	V814A	probably benign	Het
Zfy1	C	T	Y: 732,990 (GRCm39)	R281H	unknown	Het

Other mutations in Ripk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Ripk4	APN	16	97,552,696 (GRCm39)	nonsense	probably null
IGL01823:Ripk4	APN	16	97,556,483 (GRCm39)	missense	possibly damaging	0.89
IGL01921:Ripk4	APN	16	97,544,565 (GRCm39)	missense	possibly damaging	0.62
IGL02023:Ripk4	APN	16	97,556,431 (GRCm39)	missense	probably damaging	1.00
IGL02201:Ripk4	APN	16	97,556,377 (GRCm39)	missense	possibly damaging	0.91
IGL02709:Ripk4	APN	16	97,544,766 (GRCm39)	missense	probably damaging	1.00
G1citation:Ripk4	UTSW	16	97,547,236 (GRCm39)	missense	probably damaging	1.00
I2288:Ripk4	UTSW	16	97,549,345 (GRCm39)	missense	probably benign	0.16
PIT4495001:Ripk4	UTSW	16	97,544,370 (GRCm39)	missense	probably damaging	0.99
R0060:Ripk4	UTSW	16	97,564,718 (GRCm39)	splice site	probably benign
R0112:Ripk4	UTSW	16	97,544,761 (GRCm39)	missense	probably benign	0.00
R0383:Ripk4	UTSW	16	97,549,312 (GRCm39)	missense	probably damaging	1.00
R0524:Ripk4	UTSW	16	97,556,487 (GRCm39)	nonsense	probably null
R0540:Ripk4	UTSW	16	97,545,375 (GRCm39)	missense	probably damaging	1.00
R0967:Ripk4	UTSW	16	97,545,372 (GRCm39)	missense	probably damaging	1.00
R1646:Ripk4	UTSW	16	97,545,097 (GRCm39)	missense	probably damaging	1.00
R1785:Ripk4	UTSW	16	97,551,331 (GRCm39)	missense	probably damaging	1.00
R2058:Ripk4	UTSW	16	97,545,342 (GRCm39)	nonsense	probably null
R2134:Ripk4	UTSW	16	97,544,933 (GRCm39)	missense	probably damaging	1.00
R2135:Ripk4	UTSW	16	97,544,933 (GRCm39)	missense	probably damaging	1.00
R3410:Ripk4	UTSW	16	97,545,157 (GRCm39)	missense	probably benign	0.00
R3411:Ripk4	UTSW	16	97,545,157 (GRCm39)	missense	probably benign	0.00
R4538:Ripk4	UTSW	16	97,544,352 (GRCm39)	nonsense	probably null
R4627:Ripk4	UTSW	16	97,545,226 (GRCm39)	missense	probably damaging	0.99
R4665:Ripk4	UTSW	16	97,556,273 (GRCm39)	missense	probably damaging	0.98
R4704:Ripk4	UTSW	16	97,547,204 (GRCm39)	nonsense	probably null
R4769:Ripk4	UTSW	16	97,545,262 (GRCm39)	missense	probably damaging	1.00
R4860:Ripk4	UTSW	16	97,552,736 (GRCm39)	missense	probably damaging	0.97
R4860:Ripk4	UTSW	16	97,552,736 (GRCm39)	missense	probably damaging	0.97
R5240:Ripk4	UTSW	16	97,544,967 (GRCm39)	missense	probably damaging	1.00
R5864:Ripk4	UTSW	16	97,564,782 (GRCm39)	missense	probably damaging	0.98
R6027:Ripk4	UTSW	16	97,545,274 (GRCm39)	missense	probably damaging	1.00
R6035:Ripk4	UTSW	16	97,545,387 (GRCm39)	missense	probably damaging	1.00
R6035:Ripk4	UTSW	16	97,545,387 (GRCm39)	missense	probably damaging	1.00
R6291:Ripk4	UTSW	16	97,556,323 (GRCm39)	missense	probably damaging	1.00
R6343:Ripk4	UTSW	16	97,564,726 (GRCm39)	critical splice donor site	probably benign
R6572:Ripk4	UTSW	16	97,547,105 (GRCm39)	nonsense	probably null
R6783:Ripk4	UTSW	16	97,549,237 (GRCm39)	missense	probably damaging	1.00
R6822:Ripk4	UTSW	16	97,547,236 (GRCm39)	missense	probably damaging	1.00
R7215:Ripk4	UTSW	16	97,548,523 (GRCm39)	splice site	probably null
R7251:Ripk4	UTSW	16	97,544,449 (GRCm39)	missense	probably benign
R7275:Ripk4	UTSW	16	97,545,157 (GRCm39)	missense	probably benign	0.00
R7356:Ripk4	UTSW	16	97,544,349 (GRCm39)	missense	probably damaging	0.98
R7621:Ripk4	UTSW	16	97,547,125 (GRCm39)	missense	probably damaging	1.00
R8065:Ripk4	UTSW	16	97,564,737 (GRCm39)	missense	probably damaging	0.97
R8067:Ripk4	UTSW	16	97,564,737 (GRCm39)	missense	probably damaging	0.97
R8191:Ripk4	UTSW	16	97,564,726 (GRCm39)	critical splice donor site	probably benign
R8742:Ripk4	UTSW	16	97,556,272 (GRCm39)	missense	probably damaging	1.00
R8968:Ripk4	UTSW	16	97,547,203 (GRCm39)	missense	probably benign	0.38
R9513:Ripk4	UTSW	16	97,547,098 (GRCm39)	nonsense	probably null
R9784:Ripk4	UTSW	16	97,549,306 (GRCm39)	missense	possibly damaging	0.46
Z1176:Ripk4	UTSW	16	97,551,302 (GRCm39)	missense	probably damaging	1.00
Z1177:Ripk4	UTSW	16	97,556,378 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TGTGGGCCTTCAATATACTTGCAG -3'
(R):5'- ACCAGGGCCTCTTAGAAGAC -3'

Sequencing Primer
(F):5'- CCTTCAATATACTTGCAGGGTGG -3'
(R):5'- GGGCCTCTTAGAAGACTATTTTAGAC -3'

Posted On

2022-02-07