Mutagenetix > Incidental Mutation

Incidental Mutation 'R7587:Atl2'

587238

Institutional Source

Beutler Lab

Gene Symbol

Atl2

Ensembl Gene

ENSMUSG00000059811

Gene Name

atlastin GTPase 2

Synonyms

2010110I21Rik, Aip-2, Arl6ip2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7587 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79848390-79896123 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79865067 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 158 (V158E)

Ref Sequence

ENSEMBL: ENSMUSP00000064758 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068282] [ENSMUST00000112437] [ENSMUST00000222193]

AlphaFold

Q6PA06

Predicted Effect

probably benign
Transcript: ENSMUST00000068282
AA Change: V158E

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000064758
Gene: ENSMUSG00000059811
AA Change: V158E

Domain	Start	End	E-Value	Type
low complexity region	9	22	N/A	INTRINSIC
Pfam:GBP	70	341	3.9e-105	PFAM
low complexity region	377	390	N/A	INTRINSIC
Blast:HAMP	495	545	4e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000112437

SMART Domains

Protein: ENSMUSP00000108056
Gene: ENSMUSG00000059811

Domain	Start	End	E-Value	Type
Pfam:GBP	1	170	6.6e-69	PFAM
Pfam:GBP_C	172	302	2.7e-8	PFAM
Blast:HAMP	324	374	3e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000222193

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	C	3: 116,792,087	T131A	probably damaging	Het
Asah1	A	T	8: 41,374,541	V15D	probably benign	Het
Asic1	A	C	15: 99,695,590	Q276P	probably damaging	Het
Atrn	T	A	2: 130,980,114	I909N	probably damaging	Het
BC034090	A	G	1: 155,217,486	V742A	probably damaging	Het
Capzb	T	A	4: 139,262,023	D85E	possibly damaging	Het
Cdh20	T	C	1: 104,941,279	F165S	probably damaging	Het
Cfap44	A	G	16: 44,404,106	E59G	probably benign	Het
Clpsl2	G	A	17: 28,549,541	V10I	probably benign	Het
D630003M21Rik	T	C	2: 158,196,388	Y1046C	probably benign	Het
D630003M21Rik	T	A	2: 158,201,056	S855C	probably damaging	Het
D6Wsu163e	A	G	6: 126,955,896	I361V	probably benign	Het
Dchs2	A	G	3: 83,304,515	I1874V	probably benign	Het
Dennd2a	T	G	6: 39,483,135	K679Q	probably damaging	Het
Dio2	A	G	12: 90,729,560	V218A	probably benign	Het
Fam208b	T	C	13: 3,568,849	K2251E	possibly damaging	Het
Gm3286	A	G	5: 95,521,411	T100A	probably damaging	Het
Gpr107	A	T	2: 31,168,826	K109N	probably benign	Het
Gpr108	C	T	17: 57,236,732	R448Q	probably damaging	Het
Gucy2c	A	G	6: 136,704,290	V932A	probably damaging	Het
Kcnj8	T	C	6: 142,566,339	T181A	probably damaging	Het
Kdm3b	A	G	18: 34,797,027		probably null	Het
Lipc	A	G	9: 70,818,924	Y168H	probably damaging	Het
Lipi	C	T	16: 75,550,215	V439M	probably benign	Het
Lpp	A	T	16: 24,762,279		probably null	Het
Lrp1b	T	G	2: 40,730,717	D3583A		Het
Ltbr	T	C	6: 125,312,352	T165A	probably benign	Het
Mroh3	A	G	1: 136,190,998	I527T	probably benign	Het
Mylk	A	G	16: 34,922,517	E1133G	probably benign	Het
Nat3	T	C	8: 67,547,574	I35T	probably damaging	Het
Ncbp3	T	C	11: 73,066,765		probably null	Het
Nedd1	G	A	10: 92,698,730	T306M	probably benign	Het
Nexn	T	C	3: 152,247,178	R316G	probably benign	Het
Nox4	A	G	7: 87,317,302	H207R	probably damaging	Het
Nsun6	T	C	2: 15,039,825	Q110R	probably benign	Het
Olfr22-ps1	C	T	11: 73,955,184	Q165*	probably null	Het
Olfr668	C	T	7: 104,925,056	R236H	probably benign	Het
Olfr851	T	A	9: 19,497,522	V258E	probably damaging	Het
Pappa2	T	C	1: 158,851,131	D905G	probably damaging	Het
Pepd	T	C	7: 34,969,540	L195S	probably damaging	Het
Pms1	A	G	1: 53,207,316	S355P	probably benign	Het
Pop1	A	T	15: 34,502,413	K82M	probably damaging	Het
Ppp1r9b	T	A	11: 95,001,940	D655E	possibly damaging	Het
Ppt2	A	G	17: 34,626,803		probably null	Het
Prss35	T	A	9: 86,755,374	C66S	probably damaging	Het
Rfc3	A	T	5: 151,651,151	M1K	probably null	Het
Rffl	T	C	11: 82,810,148	D284G	probably damaging	Het
Robo3	T	C	9: 37,429,646	D110G	probably damaging	Het
Rtel1	G	A	2: 181,322,315	V36M	probably damaging	Het
Slc1a7	T	A	4: 108,010,486	I457K	possibly damaging	Het
Smco1	A	G	16: 32,273,723	M71V	probably benign	Het
Snrnp200	G	A	2: 127,227,902	S989N	probably damaging	Het
Spef2	T	A	15: 9,713,219	I356F	probably damaging	Het
Stk24	C	T	14: 121,302,287	A166T	probably damaging	Het
Tada2b	T	C	5: 36,476,767	I156V	probably benign	Het
Tbce	C	T	13: 14,019,742	V111M	probably damaging	Het
Tlnrd1	A	G	7: 83,882,947	L92P	probably damaging	Het
Tnr	T	A	1: 159,886,208	D735E	probably benign	Het
Tram1	T	C	1: 13,579,547	H110R	probably damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,399,157		probably null	Het
Unc5b	C	T	10: 60,783,120	C81Y	probably damaging	Het
Vps13a	G	A	19: 16,703,789	T1041M	probably benign	Het

Other mutations in Atl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02135:Atl2	APN	17	79859785	critical splice donor site	probably null
IGL02692:Atl2	APN	17	79865053	missense	probably benign
IGL03127:Atl2	APN	17	79852854	missense	probably damaging	0.99
IGL03377:Atl2	APN	17	79865090	missense	probably damaging	1.00
R0164:Atl2	UTSW	17	79853831	unclassified	probably benign
R1203:Atl2	UTSW	17	79852905	missense	probably damaging	0.99
R1489:Atl2	UTSW	17	79852706	missense	probably benign	0.00
R1663:Atl2	UTSW	17	79864711	missense	probably damaging	1.00
R1977:Atl2	UTSW	17	79852590	missense	probably damaging	1.00
R2032:Atl2	UTSW	17	79895944	missense	probably benign
R4063:Atl2	UTSW	17	79850159	makesense	probably null
R5104:Atl2	UTSW	17	79852617	missense	probably benign	0.01
R5201:Atl2	UTSW	17	79865151	missense	probably benign
R5362:Atl2	UTSW	17	79861461	missense	probably damaging	1.00
R5387:Atl2	UTSW	17	79852800	missense	probably benign	0.03
R6128:Atl2	UTSW	17	79865041	critical splice donor site	probably null
R6369:Atl2	UTSW	17	79854555	missense	probably damaging	0.96
R6416:Atl2	UTSW	17	79850223	missense	probably benign	0.00
R6597:Atl2	UTSW	17	79852766	missense	possibly damaging	0.68
R6885:Atl2	UTSW	17	79852553	missense	probably damaging	1.00
R7428:Atl2	UTSW	17	79875798	splice site	probably null
R7646:Atl2	UTSW	17	79854607	missense	probably damaging	1.00
R7781:Atl2	UTSW	17	79859831	missense	probably damaging	1.00
R7949:Atl2	UTSW	17	79859860	missense	probably damaging	1.00
R8170:Atl2	UTSW	17	79856261	missense	possibly damaging	0.95
R8313:Atl2	UTSW	17	79852604	nonsense	probably null
R8878:Atl2	UTSW	17	79852803	missense	probably benign	0.05
R8899:Atl2	UTSW	17	79876040	missense	probably benign	0.01
R9335:Atl2	UTSW	17	79852778	missense	probably benign	0.00
X0052:Atl2	UTSW	17	79852617	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CACAGCCACCTAGGAATTCG -3'
(R):5'- GCTAGACTGGGTGTTCTCTC -3'

Sequencing Primer
(F):5'- TTAGTAAAAGAATCACCAAAAATGCC -3'
(R):5'- CTAGACTGGGTGTTCTCTCTCTGG -3'

Posted On

2019-10-24