Mutagenetix > Incidental Mutation

Incidental Mutation 'R9786:Ankrd2'

734373

Institutional Source

Beutler Lab

Gene Symbol

Ankrd2

Ensembl Gene

ENSMUSG00000025172

Gene Name

ankyrin repeat domain 2

Synonyms

Arpp, mArpp

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9786 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42024439-42033549 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42033358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 300 (L300Q)

Ref Sequence

ENSEMBL: ENSMUSP00000026172 (fasta)

Gene Model

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

AlphaFold

Q9WV06

Predicted Effect

SMART Domains

Protein: ENSMUSP00000026172
Gene: ENSMUSG00000025172
AA Change: L300Q

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: 99.9%
3x: 99.8%
10x: 99.2%
20x: 97.9%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	T	A	9: 99,502,536 (GRCm39)	M232K	possibly damaging	Het
Abcc1	T	C	16: 14,222,927 (GRCm39)	S243P	probably damaging	Het
Acsl1	T	C	8: 46,974,486 (GRCm39)	Y320H	probably damaging	Het
Adam11	A	G	11: 102,653,090 (GRCm39)	S61G	probably benign	Het
Adamts1	G	A	16: 85,592,302 (GRCm39)	T965I	probably benign	Het
Adcyap1r1	T	A	6: 55,456,182 (GRCm39)	M190K	probably damaging	Het
Ankrd27	A	T	7: 35,291,294 (GRCm39)	Q30L	possibly damaging	Het
Atp8b5	T	A	4: 43,305,798 (GRCm39)	I114K	probably damaging	Het
Atrn	A	T	2: 130,786,809 (GRCm39)	I205F	probably damaging	Het
BC035947	A	G	1: 78,488,561 (GRCm39)		probably benign	Het
Boc	C	T	16: 44,311,692 (GRCm39)	R677H		Het
Calhm6	A	G	10: 34,003,643 (GRCm39)	F88S	probably benign	Het
Ccdc121rt3	T	A	5: 112,502,939 (GRCm39)	E255V	probably benign	Het
Dpysl3	G	T	18: 43,462,922 (GRCm39)	T485K	probably damaging	Het
Esyt3	T	C	9: 99,194,038 (GRCm39)	D867G	possibly damaging	Het
Fam178b	G	A	1: 36,603,517 (GRCm39)	T478I	probably damaging	Het
Foxd2	G	T	4: 114,764,850 (GRCm39)	T390K	possibly damaging	Het
Furin	A	G	7: 80,040,645 (GRCm39)	V731A	probably benign	Het
Grin2a	T	A	16: 9,471,466 (GRCm39)	I601F	possibly damaging	Het
Hat1	G	A	2: 71,250,959 (GRCm39)	R169Q	possibly damaging	Het
Ighe	G	C	12: 113,236,851 (GRCm39)	Q6E		Het
Ighv8-2	T	C	12: 114,426,179 (GRCm39)	I31V	probably benign	Het
Klk1	A	G	7: 43,878,104 (GRCm39)	D120G	probably damaging	Het
Kmt2e	A	G	5: 23,702,982 (GRCm39)	D1054G	probably benign	Het
Lamp5	A	T	2: 135,910,998 (GRCm39)	I244F	probably damaging	Het
Maco1	A	T	4: 134,557,993 (GRCm39)	Y173*	probably null	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mfsd4b1	T	C	10: 39,878,865 (GRCm39)	E344G	probably damaging	Het
Mns1	A	G	9: 72,346,556 (GRCm39)	K13R	probably benign	Het
Mrpl43	C	T	19: 44,994,346 (GRCm39)	S91N	probably benign	Het
Mtbp	T	C	15: 55,481,032 (GRCm39)	S706P	probably benign	Het
Nelfb	A	T	2: 25,095,145 (GRCm39)	V348D	probably damaging	Het
Or1l8	T	A	2: 36,817,416 (GRCm39)	K237*	probably null	Het
Or5p72	A	T	7: 108,021,924 (GRCm39)	I49F	probably benign	Het
Or7g20	C	T	9: 18,947,241 (GRCm39)	A274V	possibly damaging	Het
Or8k18	G	A	2: 86,085,428 (GRCm39)	S203L	probably benign	Het
Or8s8	T	C	15: 98,354,713 (GRCm39)	I174T	possibly damaging	Het
Pde6c	T	C	19: 38,140,009 (GRCm39)	I324T	possibly damaging	Het
Phlpp2	T	A	8: 110,660,655 (GRCm39)	L770*	probably null	Het
Pik3c2b	T	A	1: 133,019,338 (GRCm39)	F1029I	possibly damaging	Het
Rfx2	A	T	17: 57,087,890 (GRCm39)	S500R	probably benign	Het
Sarm1	T	C	11: 78,365,743 (GRCm39)	M761V	probably benign	Het
Serpina1a	A	G	12: 103,822,140 (GRCm39)	L264P	possibly damaging	Het
Slc37a1	G	T	17: 31,556,965 (GRCm39)	G377V	probably damaging	Het
Slc38a4	T	A	15: 96,906,378 (GRCm39)	M364L	probably damaging	Het
Slc7a15	A	G	12: 8,580,280 (GRCm39)	F384S	probably benign	Het
Smyd4	T	C	11: 75,281,625 (GRCm39)	V366A	probably benign	Het
Spata31d1b	T	A	13: 59,866,155 (GRCm39)	V1101D	possibly damaging	Het
Spata31d1e	C	T	13: 59,890,498 (GRCm39)	D441N	possibly damaging	Het
Stab2	C	A	10: 86,757,997 (GRCm39)	M1090I	probably benign	Het
Tex15	C	T	8: 34,062,457 (GRCm39)	T903I	probably damaging	Het
Tgds	A	T	14: 118,368,049 (GRCm39)	Y41*	probably null	Het
Tle4	G	T	19: 14,495,304 (GRCm39)	H142N	probably benign	Het
Tlx2	T	C	6: 83,046,274 (GRCm39)		probably null	Het
Tmem151a	C	G	19: 5,131,869 (GRCm39)	A446P	probably damaging	Het
Tmem205	A	T	9: 21,832,496 (GRCm39)	D138E	probably damaging	Het
Tmprss9	A	G	10: 80,734,042 (GRCm39)	K1009E	unknown	Het
Tnk2	T	A	16: 32,498,875 (GRCm39)	C729*	probably null	Het
Trim46	T	A	3: 89,142,399 (GRCm39)	D696V	probably damaging	Het
Tuba3b	G	A	6: 145,564,482 (GRCm39)	R84Q	probably benign	Het
Unc119b	C	T	5: 115,263,521 (GRCm39)	D228N	probably damaging	Het
Usp17la	A	G	7: 104,510,864 (GRCm39)	T490A	probably benign	Het
Zfp267	T	A	3: 36,219,853 (GRCm39)	C625*	probably null	Het
Zfp687	C	T	3: 94,919,768 (GRCm39)	M1I	probably null	Het
Zfp729a	T	C	13: 67,768,628 (GRCm39)	T534A	possibly damaging	Het
Zfp985	A	T	4: 147,668,047 (GRCm39)	H305L	probably benign	Het
Zscan10	C	T	17: 23,828,330 (GRCm39)	Q291*	probably null	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
R8485:Ankrd2	UTSW	19	42,030,384 (GRCm39)	splice site	probably null
R9200:Ankrd2	UTSW	19	42,028,871 (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'- GTCTTAGCCTTGCAGACACTG -3'
(R):5'- GCCAGCACTTTATTGTGTTGC -3'

Sequencing Primer
(F):5'- GTCTCTGCCCACTAGATAGCAGTAG -3'
(R):5'- CATCTAGGGGTGTTCCTGCTAGAC -3'

Posted On

2022-11-14