Mutagenetix > Incidental Mutation

Incidental Mutation 'R1661:Angel2'

186715

Institutional Source

Beutler Lab

Gene Symbol

Angel2

Ensembl Gene

ENSMUSG00000026634

Gene Name

angel homolog 2

Synonyms

2610307I21Rik, 5730410O10Rik, D1Ertd396e, D1Ertd654e

MMRRC Submission

039697-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1661 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

190657309-190679159 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 190669664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 115 (Y115H)

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: Y115H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027947
Gene: ENSMUSG00000026634
AA Change: Y115H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000066632
AA Change: Y137H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000064556
Gene: ENSMUSG00000026634
AA Change: Y137H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000110899
AA Change: Y115H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106524
Gene: ENSMUSG00000026634
AA Change: Y115H

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: Y115H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115804
Gene: ENSMUSG00000026634
AA Change: Y115H

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: ENSMUST00000137608

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146048

Meta Mutation Damage Score

0.1579

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,596,816 (GRCm39)	G423E	probably damaging	Het
Acox3	A	T	5: 35,760,371 (GRCm39)	H429L	probably damaging	Het
Adamts9	G	T	6: 92,857,604 (GRCm39)	Q895K	possibly damaging	Het
Ajm1	T	C	2: 25,469,167 (GRCm39)	D248G	possibly damaging	Het
Amotl2	T	A	9: 102,607,295 (GRCm39)	I701N	probably damaging	Het
Appbp2	T	C	11: 85,100,936 (GRCm39)		probably null	Het
Arhgap33	A	C	7: 30,231,748 (GRCm39)	C113W	probably damaging	Het
Asprv1	A	G	6: 86,605,718 (GRCm39)	N188S	probably damaging	Het
Atp8a2	T	C	14: 60,097,635 (GRCm39)	I798V	possibly damaging	Het
Caml	C	A	13: 55,779,784 (GRCm39)	L286I	probably benign	Het
Ccdc125	A	G	13: 100,830,081 (GRCm39)	I284V	probably benign	Het
Cep89	A	G	7: 35,117,105 (GRCm39)	T236A	possibly damaging	Het
Cfap61	T	C	2: 145,877,239 (GRCm39)		probably null	Het
Cog2	T	C	8: 125,269,629 (GRCm39)	F390L	probably benign	Het
Creg2	C	T	1: 39,662,372 (GRCm39)	W253*	probably null	Het
Cttnbp2	A	T	6: 18,434,982 (GRCm39)	I292K	probably benign	Het
Ddb1	A	T	19: 10,606,444 (GRCm39)	Y1114F	probably benign	Het
Dnah6	T	C	6: 73,101,761 (GRCm39)	E1921G	probably benign	Het
Dync1h1	T	C	12: 110,622,791 (GRCm39)	F3494L	probably damaging	Het
F7	A	G	8: 13,085,209 (GRCm39)	I412V	probably benign	Het
Fam222b	A	G	11: 78,045,987 (GRCm39)	Y388C	probably damaging	Het
Fam227a	G	A	15: 79,504,878 (GRCm39)		probably null	Het
Fbxo32	A	C	15: 58,054,865 (GRCm39)	V156G	probably damaging	Het
Fem1b	C	T	9: 62,704,556 (GRCm39)	V235I	probably damaging	Het
Fnip2	A	G	3: 79,422,456 (GRCm39)	F108S	probably benign	Het
Fras1	A	T	5: 96,746,768 (GRCm39)	S613C	probably damaging	Het
Garin1a	G	C	6: 29,285,937 (GRCm39)	R132P	probably damaging	Het
Gm7276	C	A	18: 77,273,266 (GRCm39)		probably benign	Het
Gnb4	A	C	3: 32,644,188 (GRCm39)	L152*	probably null	Het
Hsd17b4	G	A	18: 50,293,282 (GRCm39)	E274K	probably benign	Het
Htr4	T	C	18: 62,545,305 (GRCm39)	I30T	probably damaging	Het
Ighmbp2	A	G	19: 3,317,246 (GRCm39)	L542P	probably damaging	Het
Ikzf2	T	A	1: 69,577,973 (GRCm39)	Y512F	probably damaging	Het
Itpr1	A	G	6: 108,459,858 (GRCm39)	N2051D	probably benign	Het
Kif1c	C	T	11: 70,619,223 (GRCm39)	L953F	probably damaging	Het
Klhl22	C	A	16: 17,594,352 (GRCm39)	D160E	probably benign	Het
Kpna6	T	A	4: 129,551,264 (GRCm39)	R80S	probably benign	Het
Lclat1	A	G	17: 73,494,999 (GRCm39)	E142G	probably damaging	Het
Lrig3	T	C	10: 125,833,570 (GRCm39)	Y349H	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Map1b	T	A	13: 99,568,437 (GRCm39)	N1428I	unknown	Het
Map3k19	T	A	1: 127,745,393 (GRCm39)	T1354S	possibly damaging	Het
Med13l	T	A	5: 118,887,813 (GRCm39)	W1696R	probably damaging	Het
Megf8	A	G	7: 25,063,272 (GRCm39)	T2543A	probably damaging	Het
Mfn1	T	G	3: 32,588,471 (GRCm39)	V66G	probably benign	Het
Muc15	C	T	2: 110,564,243 (GRCm39)	Q260*	probably null	Het
Nfkb1	T	C	3: 135,300,718 (GRCm39)	H616R	probably damaging	Het
Nnmt	A	G	9: 48,516,174 (GRCm39)	S29P	probably benign	Het
Nrde2	A	T	12: 100,116,119 (GRCm39)	S122T	probably benign	Het
Or10a2	T	C	7: 106,673,481 (GRCm39)	S149P	probably damaging	Het
Or4g16	T	C	2: 111,137,116 (GRCm39)	C189R	probably damaging	Het
Or7g33	C	T	9: 19,448,624 (GRCm39)	V201I	probably benign	Het
Pced1b	A	G	15: 97,282,594 (GRCm39)	H211R	probably benign	Het
Pcsk5	A	T	19: 17,424,938 (GRCm39)	S1622T	probably damaging	Het
Pde10a	A	G	17: 9,117,702 (GRCm39)	D26G	probably damaging	Het
Phf11a	A	T	14: 59,518,237 (GRCm39)	L170H	probably damaging	Het
Ppil6	A	G	10: 41,390,176 (GRCm39)	D307G	probably benign	Het
Ppp6r2	A	G	15: 89,137,254 (GRCm39)	D6G	possibly damaging	Het
Psmd12	A	T	11: 107,382,732 (GRCm39)	K212N	probably damaging	Het
Rc3h1	T	A	1: 160,786,993 (GRCm39)	V796E	probably benign	Het
Rgl1	T	C	1: 152,409,326 (GRCm39)	Y503C	probably damaging	Het
Ryr1	A	T	7: 28,801,163 (GRCm39)	I860N	probably damaging	Het
Saal1	A	T	7: 46,342,224 (GRCm39)	N406K	possibly damaging	Het
Sh3pxd2a	A	T	19: 47,266,759 (GRCm39)	Y277N	probably damaging	Het
Slitrk1	A	T	14: 109,149,359 (GRCm39)	Y451N	probably damaging	Het
Smad1	T	C	8: 80,098,658 (GRCm39)	E52G	probably damaging	Het
Smarcd1	A	T	15: 99,605,519 (GRCm39)		probably null	Het
Smc3	A	G	19: 53,613,496 (GRCm39)	D403G	probably benign	Het
Srd5a2	A	T	17: 74,328,476 (GRCm39)	W201R	probably damaging	Het
Syt2	C	A	1: 134,675,358 (GRCm39)	A403D	probably damaging	Het
Tasor2	C	T	13: 3,623,860 (GRCm39)	S2030N	possibly damaging	Het
Tax1bp1	T	A	6: 52,713,897 (GRCm39)	S225R	probably benign	Het
Thap3	C	T	4: 152,070,161 (GRCm39)	V78M	probably damaging	Het
Thoc5	A	G	11: 4,869,792 (GRCm39)	K446R	probably benign	Het
Timmdc1	A	C	16: 38,331,079 (GRCm39)		probably null	Het
Tmem126b	G	T	7: 90,125,179 (GRCm39)	A2E	probably damaging	Het
Trim9	T	A	12: 70,301,887 (GRCm39)	R584W	probably damaging	Het
Vmn1r25	A	T	6: 57,955,446 (GRCm39)	I281N	probably damaging	Het
Wdr59	A	G	8: 112,205,994 (GRCm39)	F553S	probably damaging	Het
Wnt5a	T	C	14: 28,240,300 (GRCm39)	M150T	probably benign	Het
Zfp53	A	G	17: 21,729,766 (GRCm39)	T600A	probably damaging	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
R0881:Angel2	UTSW	1	190,669,661 (GRCm39)	missense	probably damaging	1.00
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
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

2014-05-09