Mutagenetix > Incidental Mutation

Incidental Mutation 'R2906:Afg3l2'

261676

Institutional Source

Beutler Lab

Gene Symbol

Afg3l2

Ensembl Gene

ENSMUSG00000024527

Gene Name

AFG3-like AAA ATPase 2

Synonyms

Emv66, 2310036I02Rik, par

MMRRC Submission

040493-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2906 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67537834-67582242 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67573292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 170 (T170M)

Ref Sequence

ENSEMBL: ENSMUSP00000025408 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025408]

AlphaFold

Q8JZQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000025408
AA Change: T170M

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

SMART Domains

Protein: ENSMUSP00000025408
Gene: ENSMUSG00000024527
AA Change: T170M

Domain	Start	End	E-Value	Type
low complexity region	95	121	N/A	INTRINSIC
Pfam:FtsH_ext	144	241	8.8e-12	PFAM
transmembrane domain	251	270	N/A	INTRINSIC
low complexity region	271	286	N/A	INTRINSIC
AAA	339	478	1.37e-23	SMART
Pfam:Peptidase_M41	540	743	4e-77	PFAM
low complexity region	780	794	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

Validation Efficiency

97% (37/38)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for mutations in this gene usually die before weaning. Mice develop progressive paralysis as a result of abnormalities in the axons innervating muscle endplates. Mice homozygous for a conditional allele activated in Purkinje cells exhibit abnormal gait and Purkinje cell degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	T	8: 25,353,520 (GRCm39)	W690R	probably damaging	Het
Adgrg6	A	G	10: 14,308,694 (GRCm39)	I800T	probably benign	Het
Ap1b1	T	A	11: 4,981,641 (GRCm39)	N516K	probably damaging	Het
Armcx6	A	T	X: 133,650,199 (GRCm39)	C211S	probably damaging	Het
Atp7b	G	A	8: 22,501,570 (GRCm39)	T781I	probably damaging	Het
Cd96	T	C	16: 45,871,850 (GRCm39)	T432A	possibly damaging	Het
Col13a1	T	C	10: 61,696,267 (GRCm39)		probably benign	Het
Ddx4	G	T	13: 112,757,311 (GRCm39)		probably benign	Het
Dnm1l	A	T	16: 16,132,175 (GRCm39)	S666T	probably damaging	Het
Duoxa1	C	T	2: 122,135,155 (GRCm39)	V197M	probably benign	Het
Gm6430	A	T	1: 96,952,554 (GRCm39)		noncoding transcript	Het
Gtf2a1l	G	A	17: 89,002,083 (GRCm39)	R313H	possibly damaging	Het
Gucy2c	A	T	6: 136,685,385 (GRCm39)	V852E	probably damaging	Het
Kcnk1	G	T	8: 126,722,538 (GRCm39)	V114L	probably benign	Het
Klra3	G	T	6: 130,310,302 (GRCm39)	Q73K	probably damaging	Het
Lax1	A	T	1: 133,616,643 (GRCm39)	M1K	probably null	Het
Lce1k	T	C	3: 92,713,882 (GRCm39)	S101G	unknown	Het
Med12l	T	C	3: 59,164,503 (GRCm39)	L1365P	probably damaging	Het
Mtx2	T	C	2: 74,697,253 (GRCm39)	S83P	probably damaging	Het
Naip2	A	C	13: 100,298,504 (GRCm39)	C511G	probably damaging	Het
Nefh	A	G	11: 4,890,216 (GRCm39)	I801T	probably benign	Het
Or8g24	A	G	9: 38,989,669 (GRCm39)	V124A	probably benign	Het
Oxct2b	A	G	4: 123,010,823 (GRCm39)	I248V	probably benign	Het
Pcdhgb2	A	T	18: 37,823,908 (GRCm39)	I300F	probably damaging	Het
Ptprc	G	A	1: 137,992,272 (GRCm39)	A1285V	possibly damaging	Het
Rassf3	A	G	10: 121,250,297 (GRCm39)	L172P	probably damaging	Het
Rbm26	T	A	14: 105,380,270 (GRCm39)	T516S	probably benign	Het
Rpusd1	T	C	17: 25,949,705 (GRCm39)	S292P	probably benign	Het
Scamp5	A	G	9: 57,351,146 (GRCm39)	V172A	probably damaging	Het
Snx25	T	C	8: 46,502,560 (GRCm39)		probably null	Het
Tmprss11g	A	G	5: 86,640,661 (GRCm39)		probably benign	Het
Ttll3	G	C	6: 113,369,471 (GRCm39)		probably benign	Het
Uggt2	C	T	14: 119,256,919 (GRCm39)	S1105N	probably benign	Het
Usp45	T	A	4: 21,834,338 (GRCm39)	Y805*	probably null	Het
Zfp639	T	C	3: 32,573,900 (GRCm39)	L175P	probably damaging	Het
Zfp995	T	C	17: 22,099,247 (GRCm39)	D329G	probably benign	Het

Other mutations in Afg3l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00962:Afg3l2	APN	18	67,564,723 (GRCm39)	critical splice donor site	probably null
IGL01395:Afg3l2	APN	18	67,575,880 (GRCm39)	missense	probably benign	0.21
IGL01533:Afg3l2	APN	18	67,538,488 (GRCm39)	nonsense	probably null
IGL01814:Afg3l2	APN	18	67,538,544 (GRCm39)	missense	probably benign	0.23
IGL01868:Afg3l2	APN	18	67,547,218 (GRCm39)	missense	possibly damaging	0.83
IGL02399:Afg3l2	APN	18	67,562,110 (GRCm39)	missense	possibly damaging	0.82
IGL02827:Afg3l2	APN	18	67,559,015 (GRCm39)	missense	probably damaging	1.00
IGL03342:Afg3l2	APN	18	67,540,390 (GRCm39)	missense	probably benign
IGL03392:Afg3l2	APN	18	67,547,139 (GRCm39)	splice site	probably benign
radicle	UTSW	18	67,556,023 (GRCm39)	missense	probably damaging	1.00
rootlet	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R0057:Afg3l2	UTSW	18	67,556,156 (GRCm39)	missense	probably damaging	1.00
R0107:Afg3l2	UTSW	18	67,564,836 (GRCm39)	missense	probably damaging	1.00
R0650:Afg3l2	UTSW	18	67,548,627 (GRCm39)	missense	possibly damaging	0.77
R0831:Afg3l2	UTSW	18	67,554,297 (GRCm39)	missense	probably damaging	1.00
R0899:Afg3l2	UTSW	18	67,556,047 (GRCm39)	missense	possibly damaging	0.65
R0962:Afg3l2	UTSW	18	67,538,497 (GRCm39)	missense	possibly damaging	0.77
R1672:Afg3l2	UTSW	18	67,540,493 (GRCm39)	missense	probably benign	0.31
R1815:Afg3l2	UTSW	18	67,548,643 (GRCm39)	nonsense	probably null
R1838:Afg3l2	UTSW	18	67,547,242 (GRCm39)	missense	probably damaging	0.99
R2013:Afg3l2	UTSW	18	67,564,842 (GRCm39)	missense	probably damaging	0.99
R2383:Afg3l2	UTSW	18	67,556,026 (GRCm39)	missense	possibly damaging	0.91
R4763:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R4765:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R4775:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R5193:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R5196:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R5197:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R5257:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R5361:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R5362:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R5363:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R5397:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R5588:Afg3l2	UTSW	18	67,573,277 (GRCm39)	missense	possibly damaging	0.88
R5605:Afg3l2	UTSW	18	67,575,425 (GRCm39)	nonsense	probably null
R5696:Afg3l2	UTSW	18	67,540,529 (GRCm39)	missense	probably damaging	1.00
R5722:Afg3l2	UTSW	18	67,573,269 (GRCm39)	missense	probably benign	0.44
R5779:Afg3l2	UTSW	18	67,573,513 (GRCm39)	missense	probably null	0.12
R5972:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R5973:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R5974:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R5979:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R5994:Afg3l2	UTSW	18	67,562,140 (GRCm39)	missense	probably damaging	1.00
R6026:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6027:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6028:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6029:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6033:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6033:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6035:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6035:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6075:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6077:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6081:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6131:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6132:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6134:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6152:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6154:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6169:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6178:Afg3l2	UTSW	18	67,542,598 (GRCm39)	missense	possibly damaging	0.91
R6187:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6216:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6718:Afg3l2	UTSW	18	67,554,346 (GRCm39)	missense	probably damaging	1.00
R7388:Afg3l2	UTSW	18	67,556,023 (GRCm39)	missense	probably damaging	1.00
R8479:Afg3l2	UTSW	18	67,581,986 (GRCm39)	missense	probably benign	0.05
R8531:Afg3l2	UTSW	18	67,540,439 (GRCm39)	missense	probably damaging	0.99
R9017:Afg3l2	UTSW	18	67,542,550 (GRCm39)	missense	possibly damaging	0.81
R9220:Afg3l2	UTSW	18	67,562,266 (GRCm39)	missense	probably benign
R9222:Afg3l2	UTSW	18	67,567,257 (GRCm39)	missense	probably benign	0.05
R9371:Afg3l2	UTSW	18	67,567,262 (GRCm39)	missense	possibly damaging	0.84
R9381:Afg3l2	UTSW	18	67,575,451 (GRCm39)	missense	probably damaging	1.00
R9562:Afg3l2	UTSW	18	67,554,365 (GRCm39)	missense	probably damaging	1.00
Z1176:Afg3l2	UTSW	18	67,564,777 (GRCm39)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- ACAAAGCTGTCTCGTGGTCC -3'
(R):5'- GTCCAGGTTCCAGAAGGTTG -3'

Sequencing Primer
(F):5'- GCATGCCCCCTCCATAGTAACTG -3'
(R):5'- GGTTCCAGAAGGTTGGATTTCAAAC -3'

Posted On

2015-01-23