Mutagenetix > Incidental Mutation

Incidental Mutation 'R5345:Ripply2'

422561

Institutional Source

Beutler Lab

Gene Symbol

Ripply2

Ensembl Gene

ENSMUSG00000047897

Gene Name

ripply transcriptional repressor 2

Synonyms

C030002E08Rik, LOC382089

MMRRC Submission

042924-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5345 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86897590-86901970 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 86901779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058846] [ENSMUST00000168529]

AlphaFold

Q2WG76

Predicted Effect

probably benign
Transcript: ENSMUST00000058846
AA Change: I102V

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000055369
Gene: ENSMUSG00000047897
AA Change: I102V

Domain	Start	End	E-Value	Type
low complexity region	13	28	N/A	INTRINSIC
Pfam:Ripply	33	118	2.3e-39	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000168529

SMART Domains

Protein: ENSMUSP00000126119
Gene: ENSMUSG00000032872

Domain	Start	End	E-Value	Type
low complexity region	13	24	N/A	INTRINSIC
Cyt-b5	57	130	2.56e-26	SMART
Pfam:CS	175	253	4.1e-16	PFAM
Pfam:FAD_binding_6	284	391	4.1e-22	PFAM
Pfam:NAD_binding_1	402	508	4.7e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174724

SMART Domains

Protein: ENSMUSP00000133556
Gene: ENSMUSG00000032872

Domain	Start	End	E-Value	Type
low complexity region	13	24	N/A	INTRINSIC
Cyt-b5	57	130	2.56e-26	SMART
Pfam:CS	175	253	4.2e-16	PFAM
Pfam:FAD_binding_6	284	391	1.7e-22	PFAM
Pfam:NAD_binding_1	402	509	3.9e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188187

Meta Mutation Damage Score

0.1308

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

98% (65/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that belongs to a novel family of proteins required for vertebrate somitogenesis. Members of this family have a tetrapeptide WRPW motif that is required for interaction with the transcriptional repressor Groucho and a carboxy-terminal Ripply homology domain/Bowline-DSCR-Ledgerline conserved region required for transcriptional repression. Null mutant mice die soon after birth and display defects in axial skeleton segmentation due to defective somitogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for null mutations display neonatal lethality, rib and vertebral abnormalities, impaired somite formation, decreased body length, and short tails. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	T	A	2: 31,687,059 (GRCm39)	S519T	probably damaging	Het
Acap2	A	G	16: 30,926,944 (GRCm39)	S524P	probably benign	Het
Acot1	T	A	12: 84,063,942 (GRCm39)	I350N	probably damaging	Het
Adam8	A	G	7: 139,567,552 (GRCm39)	V397A	probably benign	Het
Ankar	A	G	1: 72,709,310 (GRCm39)	M735T	possibly damaging	Het
Cacna1c	A	G	6: 118,633,497 (GRCm39)		probably null	Het
Cdc25b	A	G	2: 131,034,516 (GRCm39)	S222G	probably benign	Het
Celsr3	T	C	9: 108,709,323 (GRCm39)	S1390P	probably damaging	Het
Clca4a	T	G	3: 144,676,222 (GRCm39)	D104A	probably damaging	Het
Clcn6	A	T	4: 148,123,206 (GRCm39)		probably benign	Het
Coq8b	A	G	7: 26,949,773 (GRCm39)	T320A	probably benign	Het
Cspg5	A	T	9: 110,075,698 (GRCm39)	M145L	probably benign	Het
Cyp2c67	T	A	19: 39,614,676 (GRCm39)	I284F	probably benign	Het
Eya4	T	C	10: 22,985,947 (GRCm39)	I565V	probably benign	Het
Fbxw11	A	G	11: 32,688,471 (GRCm39)	N410S	probably damaging	Het
Gabrb2	C	T	11: 42,517,636 (GRCm39)	A448V	possibly damaging	Het
Hectd4	A	G	5: 121,402,037 (GRCm39)	D375G	possibly damaging	Het
Itsn2	T	C	12: 4,722,783 (GRCm39)	V1073A	probably damaging	Het
Kif5c	A	G	2: 49,613,078 (GRCm39)	T139A	probably benign	Het
L1td1	G	A	4: 98,624,684 (GRCm39)	G293D	probably damaging	Het
Lama1	A	G	17: 68,124,558 (GRCm39)	M2873V	probably benign	Het
Msantd5f6	A	T	4: 73,319,514 (GRCm39)	W77R	probably damaging	Het
Myo15a	A	G	11: 60,388,364 (GRCm39)	R1960G	probably damaging	Het
Nbeal1	T	C	1: 60,367,369 (GRCm39)		probably null	Het
Ndufb4	A	G	16: 37,474,540 (GRCm39)		probably null	Het
Nup153	A	T	13: 46,840,341 (GRCm39)	L1089*	probably null	Het
Or10g3	G	A	14: 52,609,725 (GRCm39)	R262*	probably null	Het
Or2l13b	T	A	16: 19,349,527 (GRCm39)	I48F	probably damaging	Het
Or5aq1b	A	G	2: 86,901,836 (GRCm39)	V214A	possibly damaging	Het
P2rx1	A	G	11: 72,900,056 (GRCm39)	T158A	probably damaging	Het
Park7	A	G	4: 150,992,880 (GRCm39)		probably benign	Het
Parl	A	T	16: 20,116,892 (GRCm39)	F102I	probably damaging	Het
Plxnc1	T	A	10: 94,685,831 (GRCm39)	H720L	probably benign	Het
Ptpn4	A	G	1: 119,693,207 (GRCm39)	S140P	probably benign	Het
Rel	A	G	11: 23,692,462 (GRCm39)	S524P	probably benign	Het
Rmc1	C	T	18: 12,312,234 (GRCm39)	T158M	probably benign	Het
Rps4l-ps	T	C	7: 114,526,433 (GRCm39)		noncoding transcript	Het
Rtn4ip1	T	C	10: 43,808,466 (GRCm39)	L81P	probably damaging	Het
Sap130	T	C	18: 31,781,251 (GRCm39)	L138P	probably benign	Het
Scp2	A	T	4: 107,912,776 (GRCm39)		probably null	Het
Sec24c	T	A	14: 20,743,288 (GRCm39)	M970K	probably benign	Het
Setd5	C	T	6: 113,092,968 (GRCm39)	P340L	probably damaging	Het
Sgcg	A	T	14: 61,483,218 (GRCm39)	M61K	probably damaging	Het
Slc22a27	C	G	19: 7,843,303 (GRCm39)	A359P	probably damaging	Het
Slc34a1	A	G	13: 55,548,331 (GRCm39)	R21G	probably benign	Het
Slc7a14	A	C	3: 31,278,006 (GRCm39)	L533W	probably damaging	Het
Srsf9	A	G	5: 115,468,595 (GRCm39)	D77G	probably benign	Het
Tab1	A	T	15: 80,034,014 (GRCm39)	E119V	possibly damaging	Het
Tcstv5	A	T	13: 120,411,384 (GRCm39)	V74E	probably damaging	Het
Tnrc6c	C	T	11: 117,614,113 (GRCm39)	A757V	possibly damaging	Het
Tradd	A	T	8: 105,986,556 (GRCm39)	I72N	probably damaging	Het
Trbv12-1	C	T	6: 41,090,781 (GRCm39)	T51M	probably benign	Het
Tsga10	T	C	1: 37,802,392 (GRCm39)	K605E	probably damaging	Het
Vwc2l	A	G	1: 70,768,077 (GRCm39)	D47G	probably damaging	Het
Zfp647	T	A	15: 76,795,695 (GRCm39)	T322S	possibly damaging	Het
Zscan20	A	C	4: 128,481,914 (GRCm39)	S583A	probably benign	Het

Other mutations in Ripply2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02686:Ripply2	APN	9	86,898,009 (GRCm39)	splice site	probably benign
R0369:Ripply2	UTSW	9	86,898,372 (GRCm39)	missense	probably damaging	1.00
R1438:Ripply2	UTSW	9	86,901,713 (GRCm39)	missense	probably damaging	1.00
R4785:Ripply2	UTSW	9	86,901,849 (GRCm39)	missense	probably damaging	1.00
R4980:Ripply2	UTSW	9	86,901,747 (GRCm39)	missense	probably damaging	1.00
R5330:Ripply2	UTSW	9	86,897,691 (GRCm39)	splice site	probably benign
R5331:Ripply2	UTSW	9	86,897,691 (GRCm39)	splice site	probably benign
R5482:Ripply2	UTSW	9	86,897,620 (GRCm39)	missense	possibly damaging	0.72
R5834:Ripply2	UTSW	9	86,897,943 (GRCm39)	missense	probably damaging	1.00
R6357:Ripply2	UTSW	9	86,898,331 (GRCm39)	missense	possibly damaging	0.49
R7427:Ripply2	UTSW	9	86,901,809 (GRCm39)	missense	possibly damaging	0.47
R9433:Ripply2	UTSW	9	86,901,715 (GRCm39)	missense	probably damaging	1.00
Z1177:Ripply2	UTSW	9	86,901,717 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAAACTGTAACAGTAGCAGC -3'
(R):5'- CTAGTGTAGGGACAAAGAGGATTCC -3'

Sequencing Primer
(F):5'- CAGTAGCAGCTTTAAACTCTGTC -3'
(R):5'- GGACAAAGAGGATTCCAAATACTG -3'

Posted On

2016-08-04