Mutagenetix > Incidental Mutation

Incidental Mutation 'R0881:Angel2'

80496

Institutional Source

Beutler Lab

Gene Symbol

Angel2

Ensembl Gene

ENSMUSG00000026634

Gene Name

angel homolog 2

Synonyms

2610307I21Rik, 5730410O10Rik, D1Ertd396e, D1Ertd654e

MMRRC Submission

039048-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0881 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

190657309-190679159 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 190669661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 114 (E114K)

Ref Sequence

ENSEMBL: ENSMUSP00000115804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027947] [ENSMUST00000066632] [ENSMUST00000110899] [ENSMUST00000123384] [ENSMUST00000130298] [ENSMUST00000135364]

AlphaFold

Q8K1C0

Predicted Effect

probably damaging
Transcript: ENSMUST00000027947
AA Change: E114K

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

SMART Domains

Protein: ENSMUSP00000027947
Gene: ENSMUSG00000026634
AA Change: E114K

Domain	Start	End	E-Value	Type
Pfam:Exo_endo_phos	148	511	2.4e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000066632
AA Change: E136K

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

SMART Domains

Protein: ENSMUSP00000064556
Gene: ENSMUSG00000026634
AA Change: E136K

Domain	Start	End	E-Value	Type
Pfam:Exo_endo_phos	170	533	9.9e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110899
AA Change: E114K

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

SMART Domains

Protein: ENSMUSP00000106524
Gene: ENSMUSG00000026634
AA Change: E114K

Domain	Start	End	E-Value	Type
Pfam:Exo_endo_phos	148	511	2.4e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123384

SMART Domains

Protein: ENSMUSP00000117912
Gene: ENSMUSG00000026634

Domain	Start	End	E-Value	Type
Pfam:Exo_endo_phos	1	207	4.4e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130298

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134187

Predicted Effect

probably damaging
Transcript: ENSMUST00000135364
AA Change: E114K

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

SMART Domains

Protein: ENSMUSP00000115804
Gene: ENSMUSG00000026634
AA Change: E114K

Domain	Start	End	E-Value	Type
low complexity region	1	19	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144693

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146048

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137608

Meta Mutation Damage Score

0.3965

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 97.0%
20x: 93.0%

Validation Efficiency

96% (51/53)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	G	A	5: 77,024,130 (GRCm39)	T174M	probably damaging	Het
Abcc9	T	A	6: 142,592,029 (GRCm39)	I732F	probably damaging	Het
Adam10	T	C	9: 70,653,519 (GRCm39)	S248P	probably damaging	Het
Adam18	A	T	8: 25,162,159 (GRCm39)		probably benign	Het
Arhgap29	A	G	3: 121,808,328 (GRCm39)	T1169A	probably damaging	Het
Atp13a2	T	A	4: 140,731,242 (GRCm39)	M759K	probably damaging	Het
Atxn2l	A	G	7: 126,095,768 (GRCm39)	S450P	probably damaging	Het
B3glct	T	A	5: 149,663,034 (GRCm39)	V264E	probably damaging	Het
Bbx	A	G	16: 50,040,963 (GRCm39)		probably benign	Het
Bmp3	A	G	5: 99,020,461 (GRCm39)	N295D	possibly damaging	Het
C9	G	A	15: 6,488,349 (GRCm39)		probably benign	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Cdan1	A	T	2: 120,551,466 (GRCm39)	V1039E	probably damaging	Het
Dennd4a	T	C	9: 64,758,665 (GRCm39)		probably null	Het
Ext1	A	G	15: 53,207,879 (GRCm39)	L294P	probably benign	Het
Fsip2	C	A	2: 82,816,617 (GRCm39)	H4117N	possibly damaging	Het
Itga8	C	T	2: 12,267,003 (GRCm39)		probably null	Het
Itln1	G	T	1: 171,360,949 (GRCm39)	H48N	probably benign	Het
Kcna5	T	A	6: 126,511,957 (GRCm39)	H57L	probably benign	Het
Klhdc4	A	T	8: 122,526,226 (GRCm39)	Y304*	probably null	Het
Klhl25	A	G	7: 75,516,027 (GRCm39)	Y6C	probably damaging	Het
Lars1	C	T	18: 42,347,851 (GRCm39)	V991M	probably benign	Het
Med20	T	C	17: 47,922,605 (GRCm39)	M1T	probably null	Het
Mslnl	A	T	17: 25,961,939 (GRCm39)	H138L	possibly damaging	Het
Mycbp2	T	C	14: 103,457,449 (GRCm39)	I1583V	probably benign	Het
Nipbl	A	C	15: 8,337,096 (GRCm39)	V2093G	probably damaging	Het
Nup98	T	A	7: 101,809,923 (GRCm39)	T536S	probably damaging	Het
Opalin	T	C	19: 41,052,420 (GRCm39)		probably null	Het
Or1j12	T	G	2: 36,343,452 (GRCm39)	L285R	probably damaging	Het
Or51d1	T	A	7: 102,348,291 (GRCm39)	V282D	possibly damaging	Het
Or8g26	A	G	9: 39,095,984 (GRCm39)	K170R	probably benign	Het
Pgm2	A	T	5: 64,250,351 (GRCm39)	T9S	unknown	Het
Piwil2	A	C	14: 70,646,376 (GRCm39)	S387A	probably benign	Het
Polr1c	T	C	17: 46,555,539 (GRCm39)	T240A	possibly damaging	Het
Polr3c	A	G	3: 96,631,163 (GRCm39)	M118T	probably damaging	Het
Pth1r	C	T	9: 110,560,641 (GRCm39)	C42Y	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rictor	A	T	15: 6,821,151 (GRCm39)	M1492L	probably benign	Het
Rrbp1	T	A	2: 143,795,173 (GRCm39)	Y1277F	probably benign	Het
Scgb3a2	T	G	18: 43,897,549 (GRCm39)		probably benign	Het
Skint1	G	A	4: 111,886,054 (GRCm39)	S327N	probably benign	Het
Steap4	A	T	5: 8,030,388 (GRCm39)	S415C	probably benign	Het
Tex48	A	G	4: 63,530,228 (GRCm39)		probably benign	Het
Tox2	T	A	2: 163,163,365 (GRCm39)	S502T	probably benign	Het
Usp47	T	A	7: 111,690,643 (GRCm39)	I762K	possibly damaging	Het
Vmn2r53	T	C	7: 12,334,859 (GRCm39)	H267R	probably benign	Het
Wnt2b	A	G	3: 104,860,513 (GRCm39)		probably benign	Het
Xirp1	T	C	9: 119,847,483 (GRCm39)	N28D	possibly damaging	Het
Zeb1	T	C	18: 5,767,138 (GRCm39)	S550P	probably benign	Het

Other mutations in Angel2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01351:Angel2	APN	1	190,665,310 (GRCm39)	missense	probably benign	0.15
R0077:Angel2	UTSW	1	190,665,284 (GRCm39)	missense	possibly damaging	0.95
R0116:Angel2	UTSW	1	190,673,187 (GRCm39)	missense	probably benign	0.00
R0891:Angel2	UTSW	1	190,677,270 (GRCm39)	missense	possibly damaging	0.92
R1530:Angel2	UTSW	1	190,671,285 (GRCm39)	missense	probably damaging	1.00
R1661:Angel2	UTSW	1	190,669,664 (GRCm39)	missense	probably damaging	1.00
R1665:Angel2	UTSW	1	190,669,664 (GRCm39)	missense	probably damaging	1.00
R1670:Angel2	UTSW	1	190,674,360 (GRCm39)	missense	probably benign	0.12
R5175:Angel2	UTSW	1	190,673,081 (GRCm39)	nonsense	probably null
R5504:Angel2	UTSW	1	190,676,083 (GRCm39)	missense	probably damaging	1.00
R6020:Angel2	UTSW	1	190,665,068 (GRCm39)	missense	probably benign
R7194:Angel2	UTSW	1	190,677,194 (GRCm39)	missense	probably damaging	1.00
R7289:Angel2	UTSW	1	190,673,371 (GRCm39)	missense	possibly damaging	0.56
R8959:Angel2	UTSW	1	190,665,332 (GRCm39)	missense	probably damaging	0.96
R9723:Angel2	UTSW	1	190,671,342 (GRCm39)	missense	probably damaging	1.00
Z1088:Angel2	UTSW	1	190,669,751 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAAGTCTTAACCAGGGACCAGTG -3'
(R):5'- GGGGAACCGAAAACTCCAGTGTAAC -3'

Sequencing Primer
(F):5'- TTCAGAAAGATTCGGTAGCCCTC -3'
(R):5'- TCCAGTAAATCCTGCGAGAG -3'

Posted On

2013-11-07