Mutagenetix > Incidental Mutation

Incidental Mutation 'R7349:Atg16l2'

570418

Institutional Source

Beutler Lab

Gene Symbol

Atg16l2

Ensembl Gene

ENSMUSG00000047767

Gene Name

autophagy related 16 like 2

Synonyms

2410118P20Rik

MMRRC Submission

045435-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7349 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100935521-100951474 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100939473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 563 (D563G)

Ref Sequence

ENSEMBL: ENSMUSP00000112500 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120267] [ENSMUST00000122116] [ENSMUST00000139609] [ENSMUST00000143630] [ENSMUST00000207740]

AlphaFold

Q6KAU8

Predicted Effect

probably damaging
Transcript: ENSMUST00000120267
AA Change: D563G

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

SMART Domains

Protein: ENSMUSP00000112500
Gene: ENSMUSG00000047767
AA Change: D563G

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:ATG16	20	211	2.3e-36	PFAM
WD40	329	368	1.13e-7	SMART
WD40	373	412	6.79e-2	SMART
WD40	415	454	1.08e-4	SMART
WD40	457	493	2.97e0	SMART
WD40	496	534	1.61e-3	SMART
WD40	539	580	1.66e0	SMART
WD40	583	623	2.8e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000122116
AA Change: D542G

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

SMART Domains

Protein: ENSMUSP00000113320
Gene: ENSMUSG00000047767
AA Change: D542G

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:ATG16	17	212	5.4e-14	PFAM
WD40	308	347	1.13e-7	SMART
WD40	352	391	6.79e-2	SMART
WD40	394	433	1.08e-4	SMART
WD40	436	472	2.97e0	SMART
WD40	475	513	1.61e-3	SMART
WD40	518	559	1.66e0	SMART
WD40	562	602	2.8e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139609

SMART Domains

Protein: ENSMUSP00000117387
Gene: ENSMUSG00000047767

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:ATG16	17	212	1.8e-13	PFAM
WD40	329	368	1.13e-7	SMART
Blast:WD40	373	395	6e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000143630

SMART Domains

Protein: ENSMUSP00000117029
Gene: ENSMUSG00000047767

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:ATG16	17	212	1.8e-13	PFAM
WD40	329	368	1.13e-7	SMART
Blast:WD40	373	395	6e-7	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000207740
AA Change: T29A

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit lymphopenia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	A	13: 60,990,717 (GRCm39)	T326S	possibly damaging	Het
Acly	A	T	11: 100,412,817 (GRCm39)	H91Q	probably benign	Het
Acp3	T	A	9: 104,168,657 (GRCm39)	I403F	probably benign	Het
Angpt2	T	A	8: 18,742,090 (GRCm39)	M489L	probably damaging	Het
Arap1	T	C	7: 101,039,435 (GRCm39)	I565T	possibly damaging	Het
Atp6v0a2	T	A	5: 124,789,392 (GRCm39)	Y386*	probably null	Het
Atp8b4	A	G	2: 126,167,265 (GRCm39)	V1078A	probably benign	Het
Bsn	T	C	9: 107,987,982 (GRCm39)	D2590G	unknown	Het
Casp12	T	C	9: 5,345,527 (GRCm39)		probably null	Het
Ccdc87	T	C	19: 4,891,868 (GRCm39)	S787P	probably damaging	Het
Cdh13	A	G	8: 119,969,097 (GRCm39)	T485A	probably damaging	Het
Cstdc5	A	G	16: 36,184,674 (GRCm39)	V23A	probably damaging	Het
Dip2a	T	C	10: 76,121,426 (GRCm39)	H810R	probably damaging	Het
Dmbt1	A	T	7: 130,642,854 (GRCm39)	Y120F	unknown	Het
Dmgdh	C	T	13: 93,888,741 (GRCm39)	T793I	possibly damaging	Het
Dnhd1	A	G	7: 105,359,330 (GRCm39)	D3555G	probably damaging	Het
Eif4e1b	T	C	13: 54,932,006 (GRCm39)	V30A	probably benign	Het
Ercc5	T	G	1: 44,220,068 (GRCm39)	D1113E	possibly damaging	Het
Fbn1	T	C	2: 125,157,321 (GRCm39)	N2321D	possibly damaging	Het
Fbrs	T	C	7: 127,081,971 (GRCm39)	L237P	probably damaging	Het
Flg2	T	A	3: 93,127,513 (GRCm39)	S2142T	unknown	Het
Ftsj3	G	A	11: 106,140,572 (GRCm39)	T761I	probably damaging	Het
Gdi2	C	A	13: 3,606,395 (GRCm39)	T157N	probably benign	Het
Gm8122	C	A	14: 43,088,058 (GRCm39)		probably null	Het
Gtpbp10	T	C	5: 5,605,379 (GRCm39)	E108G	possibly damaging	Het
Hectd4	T	C	5: 121,448,726 (GRCm39)	L358P	probably damaging	Het
Herc3	T	C	6: 58,835,971 (GRCm39)	C271R	probably benign	Het
Hspb1	C	T	5: 135,918,187 (GRCm39)	T178M	possibly damaging	Het
Htr3b	C	T	9: 48,847,319 (GRCm39)	V399M	probably benign	Het
Hydin	A	G	8: 111,124,803 (GRCm39)		probably null	Het
Itpr3	T	A	17: 27,326,786 (GRCm39)		probably null	Het
Iyd	G	T	10: 3,495,638 (GRCm39)	V99F	possibly damaging	Het
Lrrc36	G	A	8: 106,178,900 (GRCm39)	G365D	probably damaging	Het
Map1b	T	A	13: 99,570,148 (GRCm39)	I858F	unknown	Het
Med12l	A	T	3: 59,165,746 (GRCm39)	D1488V	probably damaging	Het
Ms4a6c	T	A	19: 11,455,555 (GRCm39)	N121K	probably damaging	Het
Nlrp1b	T	G	11: 71,072,943 (GRCm39)	Q300P	probably benign	Het
Nlrp3	G	A	11: 59,438,912 (GRCm39)	R163H	probably damaging	Het
Nr4a3	T	G	4: 48,051,290 (GRCm39)	S15A	possibly damaging	Het
Optc	T	G	1: 133,825,617 (GRCm39)	D356A	probably damaging	Het
Or52h7	A	G	7: 104,213,857 (GRCm39)	H143R	probably benign	Het
Or9s15	T	C	1: 92,524,904 (GRCm39)	V221A	possibly damaging	Het
Pdzd2	C	G	15: 12,399,291 (GRCm39)	V812L	probably damaging	Het
Phlpp2	T	C	8: 110,655,278 (GRCm39)	F691S	probably damaging	Het
Pigk	T	C	3: 152,453,238 (GRCm39)	F319L	probably benign	Het
Pkhd1l1	A	G	15: 44,378,350 (GRCm39)	T1035A	probably damaging	Het
Plekhg3	A	G	12: 76,611,339 (GRCm39)	T261A	probably benign	Het
Plekhm1	A	G	11: 103,278,160 (GRCm39)	F312S	probably damaging	Het
Pms2	T	A	5: 143,862,654 (GRCm39)	I587N	probably benign	Het
Ppl	T	A	16: 4,922,593 (GRCm39)	H272L	probably damaging	Het
Prkce	G	A	17: 86,800,783 (GRCm39)	A400T	probably benign	Het
Ptpn9	T	C	9: 56,951,660 (GRCm39)	S324P	probably benign	Het
Ptprk	A	T	10: 28,468,834 (GRCm39)	N1432I	possibly damaging	Het
R3hdm2	T	C	10: 127,328,515 (GRCm39)	S746P	probably benign	Het
Rnf220	G	A	4: 117,135,015 (GRCm39)	A412V	probably damaging	Het
Scel	G	A	14: 103,781,315 (GRCm39)	A154T	probably benign	Het
Sirpb1a	A	T	3: 15,475,664 (GRCm39)	N290K	probably damaging	Het
Sirpb1c	A	T	3: 15,886,310 (GRCm39)		probably null	Het
Sorbs2	A	T	8: 46,248,860 (GRCm39)	R704*	probably null	Het
Spast	T	C	17: 74,680,319 (GRCm39)	V427A	probably damaging	Het
Stxbp4	A	T	11: 90,482,937 (GRCm39)		probably null	Het
Thsd7a	C	A	6: 12,352,067 (GRCm39)	G1043C		Het
Tmem205	C	T	9: 21,832,410 (GRCm39)	C167Y	probably damaging	Het
Trappc9	A	T	15: 72,608,718 (GRCm39)	L897*	probably null	Het
Trim36	A	G	18: 46,302,495 (GRCm39)	F518L	probably benign	Het
Ttc12	T	G	9: 49,359,267 (GRCm39)	T402P	possibly damaging	Het
Twnk	T	C	19: 44,998,600 (GRCm39)	V506A	possibly damaging	Het
Vmn2r18	A	T	5: 151,485,682 (GRCm39)	L604*	probably null	Het
Wdr83	T	C	8: 85,806,460 (GRCm39)	N113D	possibly damaging	Het
Zfp628	G	A	7: 4,924,817 (GRCm39)	G1013E	probably damaging	Het

Other mutations in Atg16l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Atg16l2	APN	7	100,949,367 (GRCm39)	missense	probably damaging	1.00
IGL00402:Atg16l2	APN	7	100,945,360 (GRCm39)	missense	probably benign	0.00
IGL00662:Atg16l2	APN	7	100,939,103 (GRCm39)	missense	probably benign	0.00
IGL00905:Atg16l2	APN	7	100,949,373 (GRCm39)	missense	probably damaging	1.00
IGL01644:Atg16l2	APN	7	100,946,424 (GRCm39)	makesense	probably null
IGL02839:Atg16l2	APN	7	100,942,604 (GRCm39)	missense	probably damaging	1.00
R0316:Atg16l2	UTSW	7	100,942,603 (GRCm39)	missense	probably damaging	1.00
R0638:Atg16l2	UTSW	7	100,949,317 (GRCm39)	critical splice donor site	probably null
R0683:Atg16l2	UTSW	7	100,939,591 (GRCm39)	missense	probably damaging	1.00
R1436:Atg16l2	UTSW	7	100,940,757 (GRCm39)	missense	probably damaging	1.00
R1592:Atg16l2	UTSW	7	100,941,193 (GRCm39)	missense	probably damaging	1.00
R1623:Atg16l2	UTSW	7	100,939,113 (GRCm39)	missense	probably benign	0.01
R2002:Atg16l2	UTSW	7	100,944,127 (GRCm39)	missense	possibly damaging	0.62
R2090:Atg16l2	UTSW	7	100,942,575 (GRCm39)	splice site	probably null
R2103:Atg16l2	UTSW	7	100,939,568 (GRCm39)	critical splice donor site	probably null
R2349:Atg16l2	UTSW	7	100,945,746 (GRCm39)	missense	probably damaging	0.96
R4738:Atg16l2	UTSW	7	100,946,385 (GRCm39)	missense	probably damaging	1.00
R4739:Atg16l2	UTSW	7	100,946,385 (GRCm39)	missense	probably damaging	1.00
R4740:Atg16l2	UTSW	7	100,946,385 (GRCm39)	missense	probably damaging	1.00
R5704:Atg16l2	UTSW	7	100,949,418 (GRCm39)	missense	probably damaging	1.00
R6243:Atg16l2	UTSW	7	100,941,536 (GRCm39)	makesense	probably null
R6257:Atg16l2	UTSW	7	100,951,102 (GRCm39)	splice site	probably null
R6613:Atg16l2	UTSW	7	100,939,788 (GRCm39)	critical splice donor site	probably null
R7331:Atg16l2	UTSW	7	100,948,255 (GRCm39)	missense	probably damaging	1.00
R7719:Atg16l2	UTSW	7	100,939,074 (GRCm39)	missense	probably damaging	1.00
R8186:Atg16l2	UTSW	7	100,945,714 (GRCm39)	critical splice donor site	probably null
R8500:Atg16l2	UTSW	7	100,939,473 (GRCm39)	missense	probably damaging	1.00
R8557:Atg16l2	UTSW	7	100,939,863 (GRCm39)	missense	probably benign	0.43
R9061:Atg16l2	UTSW	7	100,941,338 (GRCm39)	missense	probably damaging	0.99
R9225:Atg16l2	UTSW	7	100,951,188 (GRCm39)	missense	probably benign	0.00
R9561:Atg16l2	UTSW	7	100,948,248 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AATGCATGCGAAAGGTCTGG -3'
(R):5'- TGAAGTGCTGGTCCCTTTTCAC -3'

Sequencing Primer
(F):5'- TCTGGGGACATATCAGAACATG -3'
(R):5'- CCTTTTCACATCTGGAGGAAGACTG -3'

Posted On

2019-09-13