Mutagenetix > Incidental Mutation

Incidental Mutation 'R8485:Ankrd2'

668186

Institutional Source

Beutler Lab

Gene Symbol

Ankrd2

Ensembl Gene

ENSMUSG00000025172

Gene Name

ankyrin repeat domain 2

Synonyms

Arpp, mArpp

MMRRC Submission

067928-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8485 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42024439-42033549 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 42030384 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000026172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026172] [ENSMUST00000081714] [ENSMUST00000172244]

AlphaFold

Q9WV06

Predicted Effect

probably null
Transcript: ENSMUST00000026172

SMART Domains

Protein: ENSMUSP00000026172
Gene: ENSMUSG00000025172

Domain	Start	End	E-Value	Type
low complexity region	104	111	N/A	INTRINSIC
ANK	149	178	5.24e-4	SMART
ANK	182	211	5.79e-6	SMART
ANK	215	244	1.33e-5	SMART
ANK	248	277	3.18e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000081714

SMART Domains

Protein: ENSMUSP00000080414
Gene: ENSMUSG00000025176

Domain	Start	End	E-Value	Type
DHDPS	28	319	8.34e-81	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172244

SMART Domains

Protein: ENSMUSP00000126037
Gene: ENSMUSG00000025176

Domain	Start	End	E-Value	Type
Pfam:DHDPS	57	156	5.8e-11	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the muscle ankyrin repeat protein (MARP) family. A similar gene in rodents is a component of a muscle stress response pathway and plays a role in the stretch-response associated with slow muscle function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for a null allele are viable, fertile and free of cardiac defects but exhibit altered inflammatory responses and are prone to skeletal muscle fiber-type switching of slow fibers toward a faster phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	A	G	3: 97,066,302 (GRCm39)		probably benign	Het
Adamts16	T	C	13: 70,886,794 (GRCm39)	T999A	possibly damaging	Het
Adgrb1	A	C	15: 74,420,153 (GRCm39)	T829P	probably damaging	Het
Ankrd12	C	T	17: 66,290,711 (GRCm39)	S1574N	probably benign	Het
Ano3	T	A	2: 110,498,200 (GRCm39)		probably null	Het
Arhgap18	T	C	10: 26,722,104 (GRCm39)	I25T	probably benign	Het
Armc3	T	C	2: 19,297,945 (GRCm39)	F572S	probably damaging	Het
Aspdh	G	T	7: 44,117,093 (GRCm39)	G165W	probably damaging	Het
Btnl10	G	T	11: 58,811,142 (GRCm39)	R155L	possibly damaging	Het
Cacng7	A	G	7: 3,414,541 (GRCm39)	E168G	probably benign	Het
Cadps	G	A	14: 12,439,872 (GRCm38)	T1215M	probably damaging	Het
Cbfa2t3	C	A	8: 123,357,517 (GRCm39)	G598C	probably damaging	Het
Cdh15	T	C	8: 123,584,105 (GRCm39)	S69P	probably damaging	Het
Cwc27	G	T	13: 104,940,772 (GRCm39)	P196T	probably benign	Het
Cwc27	C	A	13: 104,940,776 (GRCm39)	L194F	possibly damaging	Het
Dlec1	T	G	9: 118,957,659 (GRCm39)	V881G	probably benign	Het
Dnah7c	A	C	1: 46,719,952 (GRCm39)	D2801A	probably benign	Het
Efhc1	T	C	1: 21,030,460 (GRCm39)	M131T	possibly damaging	Het
Ercc2	G	A	7: 19,122,165 (GRCm39)	V386I	possibly damaging	Het
Exoc4	T	A	6: 33,898,436 (GRCm39)	I885N	probably damaging	Het
Fbxl22	C	T	9: 66,421,849 (GRCm39)		probably null	Het
Flii	G	T	11: 60,607,063 (GRCm39)	A971E	probably benign	Het
Fnip2	T	A	3: 79,388,844 (GRCm39)	E599V	probably benign	Het
Glb1l2	G	A	9: 26,679,036 (GRCm39)	L453F	probably benign	Het
Gm49368	C	T	7: 127,711,611 (GRCm39)	P624L	probably damaging	Het
Gpa33	T	A	1: 165,992,261 (GRCm39)	D268E	probably benign	Het
Gpi1	A	T	7: 33,918,677 (GRCm39)		probably null	Het
Iqgap2	T	C	13: 95,796,659 (GRCm39)	N1165S	probably damaging	Het
Irag2	A	T	6: 145,117,400 (GRCm39)	N379I	probably damaging	Het
Kctd2	G	T	11: 115,320,434 (GRCm39)		probably benign	Het
L1td1	C	T	4: 98,625,911 (GRCm39)	A702V	probably damaging	Het
Lrp1	G	A	10: 127,394,519 (GRCm39)	R2565C	probably damaging	Het
Mycbpap	A	G	11: 94,402,534 (GRCm39)	L267P	probably damaging	Het
Mycbpap	T	C	11: 94,405,359 (GRCm39)	R57G	probably benign	Het
Myo1b	A	C	1: 51,818,760 (GRCm39)	L505R	probably damaging	Het
Nfatc2	A	C	2: 168,432,012 (GRCm39)	F34V	probably damaging	Het
Nphs1	A	G	7: 30,165,598 (GRCm39)	N655S	probably damaging	Het
Nsd2	A	T	5: 34,040,189 (GRCm39)	I909F	probably damaging	Het
Or10ag60	A	T	2: 87,438,601 (GRCm39)	M290L	probably benign	Het
Or8b37	T	A	9: 37,959,253 (GRCm39)	M245K	probably benign	Het
Pak2	G	A	16: 31,871,083 (GRCm39)	A33V	probably benign	Het
Phb1	A	G	11: 95,566,055 (GRCm39)	D113G	probably benign	Het
Pkhd1	T	A	1: 20,593,257 (GRCm39)	I1619F	probably damaging	Het
Pkhd1l1	A	G	15: 44,423,796 (GRCm39)	I3113V	probably damaging	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Prrc2b	T	A	2: 32,102,105 (GRCm39)	M726K	possibly damaging	Het
Rai14	A	G	15: 10,575,122 (GRCm39)	L612P	probably damaging	Het
Rapgef1	T	C	2: 29,600,186 (GRCm39)	S598P	probably damaging	Het
Rdm1	G	A	11: 101,518,816 (GRCm39)	V8I	probably benign	Het
Rrbp1	A	G	2: 143,796,933 (GRCm39)	F1148L	probably benign	Het
Slc12a2	T	C	18: 58,074,218 (GRCm39)		probably null	Het
Slc7a8	T	A	14: 54,962,264 (GRCm39)	T457S	probably benign	Het
Stk32a	T	A	18: 43,376,075 (GRCm39)	M48K	possibly damaging	Het
Svil	T	C	18: 5,064,566 (GRCm39)	S642P	probably benign	Het
Taok3	G	A	5: 117,389,142 (GRCm39)	V516M	possibly damaging	Het
Ugdh	T	C	5: 65,584,902 (GRCm39)	I7V	possibly damaging	Het
Zc3h11a	T	A	1: 133,553,633 (GRCm39)	S504C	possibly damaging	Het
Zfp512	C	T	5: 31,637,401 (GRCm39)	R497W	probably damaging	Het

Other mutations in Ankrd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01529:Ankrd2	APN	19	42,028,349 (GRCm39)	missense	probably damaging	0.97
IGL03088:Ankrd2	APN	19	42,030,424 (GRCm39)	missense	probably null	0.01
IGL03050:Ankrd2	UTSW	19	42,028,533 (GRCm39)	missense	probably damaging	1.00
R0133:Ankrd2	UTSW	19	42,032,510 (GRCm39)	missense	probably benign	0.01
R0930:Ankrd2	UTSW	19	42,032,292 (GRCm39)	critical splice donor site	probably null
R2135:Ankrd2	UTSW	19	42,032,498 (GRCm39)	missense	probably damaging	1.00
R2204:Ankrd2	UTSW	19	42,032,558 (GRCm39)	missense	probably damaging	0.98
R2205:Ankrd2	UTSW	19	42,032,558 (GRCm39)	missense	probably damaging	0.98
R4529:Ankrd2	UTSW	19	42,032,240 (GRCm39)	missense	probably benign	0.05
R4833:Ankrd2	UTSW	19	42,032,296 (GRCm39)	splice site	probably null
R5112:Ankrd2	UTSW	19	42,028,326 (GRCm39)	missense	possibly damaging	0.71
R6005:Ankrd2	UTSW	19	42,028,554 (GRCm39)	missense	probably damaging	1.00
R6146:Ankrd2	UTSW	19	42,028,544 (GRCm39)	missense	possibly damaging	0.57
R7382:Ankrd2	UTSW	19	42,033,411 (GRCm39)	missense
R7556:Ankrd2	UTSW	19	42,028,839 (GRCm39)	missense
R9200:Ankrd2	UTSW	19	42,028,871 (GRCm39)	missense
R9786:Ankrd2	UTSW	19	42,033,358 (GRCm39)	missense
X0063:Ankrd2	UTSW	19	42,030,842 (GRCm39)	missense	probably benign	0.01
Z1177:Ankrd2	UTSW	19	42,033,438 (GRCm39)	missense
Z1177:Ankrd2	UTSW	19	42,028,598 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- AATAGCCATGACCAGCAGG -3'
(R):5'- GGCAGCCCACTAAAACAGATTTG -3'

Sequencing Primer
(F):5'- ATGACCAGCAGGGGTGC -3'
(R):5'- GCCCACTAAAACAGATTTGACAGG -3'

Posted On

2021-03-24