Mutagenetix > Incidental Mutation

Incidental Mutation 'R9359:Angpt4'

708567

Institutional Source

Beutler Lab

Gene Symbol

Angpt4

Ensembl Gene

ENSMUSG00000027460

Gene Name

angiopoietin 4

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R9359 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

151753130-151787257 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 151780892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 380 (T380M)

Ref Sequence

ENSEMBL: ENSMUSP00000028955 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028955]

AlphaFold

Q9WVH6

Predicted Effect

probably damaging
Transcript: ENSMUST00000028955
AA Change: T380M

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028955
Gene: ENSMUSG00000027460
AA Change: T380M

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	86	95	N/A	INTRINSIC
coiled coil region	181	239	N/A	INTRINSIC
low complexity region	253	267	N/A	INTRINSIC
FBG	292	507	2.23e-98	SMART

Coding Region Coverage

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

Validation Efficiency

100% (45/45)

MGI Phenotype

FUNCTION: This gene is a member of the angiopoietin family of secreted growth factors comprising Angiopoietins-1, -2, and -3, all of which bind the TEK Receptor Tyrosine Kinase. Angiopoietin/TEK Receptor Tyrosine Kinase signaling is involved in survival and migration of endothelial cells and regulates vascular remodeling and maintenance of vascular integrity. Angiopoietin/TEK Receptor Tyrosine Kinase signaling is also required for lymphangiogenesis. Family members bind TEK Receptor Tyrosine Kinase as multimeric clusters but their oligomerization properties differ from one another and this is thought to provide a mechanistic basis for their distinct physiologic roles. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd50	A	T	3: 38,537,172 (GRCm39)	N60K	probably damaging	Het
Atp6v0a4	G	A	6: 38,059,048 (GRCm39)	T245I	probably benign	Het
Calcoco2	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,862 (GRCm39)		probably null	Het
Cyp2j13	T	C	4: 95,950,170 (GRCm39)	D277G	probably damaging	Het
Def8	A	T	8: 124,185,105 (GRCm39)	I310F	probably benign	Het
Dmtf1	A	G	5: 9,171,927 (GRCm39)	L503S	possibly damaging	Het
Dock1	T	C	7: 134,770,125 (GRCm39)	V1795A	probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Gabbr1	A	G	17: 37,381,605 (GRCm39)	T790A	probably damaging	Het
Glg1	C	T	8: 111,914,425 (GRCm39)	R453Q	probably benign	Het
Gm10549	C	T	18: 33,597,375 (GRCm39)	P54S	unknown	Het
Gpld1	G	A	13: 25,163,712 (GRCm39)	V502I	probably benign	Het
Ifnar1	C	T	16: 91,292,367 (GRCm39)	P207L	probably benign	Het
Inhba	A	G	13: 16,191,966 (GRCm39)	H29R	probably benign	Het
Insr	G	C	8: 3,208,717 (GRCm39)	P1248R	probably damaging	Het
Ipcef1	C	T	10: 6,840,663 (GRCm39)	D349N	probably damaging	Het
Itga4	T	A	2: 79,156,004 (GRCm39)	I990N	possibly damaging	Het
Malrd1	T	C	2: 15,618,988 (GRCm39)	V284A		Het
Maml2	C	T	9: 13,532,969 (GRCm39)	Q728*	probably null	Het
Mex3d	A	T	10: 80,217,581 (GRCm39)	N545K		Het
Mios	T	A	6: 8,214,894 (GRCm39)	V30E	probably benign	Het
Muc16	A	G	9: 18,449,060 (GRCm39)		probably null	Het
Naxd	A	G	8: 11,562,968 (GRCm39)	K303E	possibly damaging	Het
Or2w1	T	C	13: 21,317,865 (GRCm39)	F307L	probably benign	Het
Or4l1	T	C	14: 50,166,906 (GRCm39)	T32A	probably benign	Het
Or5a21	T	A	19: 12,310,803 (GRCm39)	H139L	possibly damaging	Het
Or9q2	C	T	19: 13,772,200 (GRCm39)	M258I	probably damaging	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Pknox1	C	T	17: 31,822,229 (GRCm39)	T332M	possibly damaging	Het
Ptgdr	A	G	14: 45,090,715 (GRCm39)	S348P		Het
Ptpdc1	T	A	13: 48,740,030 (GRCm39)	E467V	probably benign	Het
Qsox1	A	G	1: 155,658,343 (GRCm39)	S409P	probably damaging	Het
Rfx4	A	G	10: 84,740,921 (GRCm39)	T680A	probably benign	Het
Slc30a5	T	C	13: 100,949,970 (GRCm39)	T371A	probably damaging	Het
Slc5a7	A	T	17: 54,583,669 (GRCm39)	N540K	probably benign	Het
Slco6c1	A	T	1: 96,990,248 (GRCm39)	S664R	possibly damaging	Het
Tbxa2r	A	G	10: 81,168,958 (GRCm39)	S216G	probably damaging	Het
Tgm4	C	A	9: 122,881,837 (GRCm39)	S344R	probably damaging	Het
Thoc6	A	G	17: 23,887,823 (GRCm39)	V328A	possibly damaging	Het
Trim61	T	A	8: 65,467,228 (GRCm39)	Q11L	probably damaging	Het
Txndc2	G	A	17: 65,944,992 (GRCm39)	T395I	probably damaging	Het
Txndc9	T	C	1: 38,034,859 (GRCm39)	E15G	probably benign	Het
Unc93a2	G	T	17: 7,641,842 (GRCm39)	T202K	probably damaging	Het
Uspl1	G	A	5: 149,146,481 (GRCm39)	V411M	probably damaging	Het
Vcpip1	A	G	1: 9,816,049 (GRCm39)	I778T	possibly damaging	Het
Vps54	A	G	11: 21,242,108 (GRCm39)	T408A	probably benign	Het
Wscd1	T	C	11: 71,650,799 (GRCm39)	L42P	possibly damaging	Het

Other mutations in Angpt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02900:Angpt4	APN	2	151,753,391 (GRCm39)	missense	probably damaging	0.99
IGL03107:Angpt4	APN	2	151,785,342 (GRCm39)	missense	probably benign	0.08
IGL03343:Angpt4	APN	2	151,778,623 (GRCm39)	missense	probably damaging	1.00
R0034:Angpt4	UTSW	2	151,771,311 (GRCm39)	missense	probably benign	0.44
R0709:Angpt4	UTSW	2	151,776,434 (GRCm39)	missense	possibly damaging	0.46
R0764:Angpt4	UTSW	2	151,753,204 (GRCm39)	start gained	probably benign
R0853:Angpt4	UTSW	2	151,780,847 (GRCm39)	missense	probably damaging	1.00
R1796:Angpt4	UTSW	2	151,780,909 (GRCm39)	missense	probably damaging	1.00
R2091:Angpt4	UTSW	2	151,778,703 (GRCm39)	splice site	probably benign
R2184:Angpt4	UTSW	2	151,780,874 (GRCm39)	missense	probably damaging	1.00
R2901:Angpt4	UTSW	2	151,753,259 (GRCm39)	missense	unknown
R3014:Angpt4	UTSW	2	151,771,517 (GRCm39)	missense	probably benign	0.07
R4192:Angpt4	UTSW	2	151,785,238 (GRCm39)	missense	probably benign
R4440:Angpt4	UTSW	2	151,786,566 (GRCm39)	missense	probably damaging	1.00
R5059:Angpt4	UTSW	2	151,776,360 (GRCm39)	missense	probably damaging	1.00
R5326:Angpt4	UTSW	2	151,767,464 (GRCm39)	critical splice donor site	probably null
R6345:Angpt4	UTSW	2	151,771,354 (GRCm39)	missense	probably benign	0.00
R7232:Angpt4	UTSW	2	151,771,460 (GRCm39)	missense	possibly damaging	0.63
R7313:Angpt4	UTSW	2	151,767,326 (GRCm39)	missense	probably benign
R7456:Angpt4	UTSW	2	151,780,987 (GRCm39)	missense	probably damaging	1.00
R7598:Angpt4	UTSW	2	151,767,445 (GRCm39)	missense	possibly damaging	0.95
R7823:Angpt4	UTSW	2	151,753,286 (GRCm39)	missense	unknown
R8261:Angpt4	UTSW	2	151,769,084 (GRCm39)	missense	probably benign	0.00
R8682:Angpt4	UTSW	2	151,769,005 (GRCm39)	missense	probably benign	0.00
R8730:Angpt4	UTSW	2	151,771,467 (GRCm39)	missense	probably damaging	0.99
R8861:Angpt4	UTSW	2	151,767,373 (GRCm39)	missense	probably damaging	1.00
R9403:Angpt4	UTSW	2	151,780,892 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGTTCTCTAGAGGGGAGCTC -3'
(R):5'- GAGAATGACCCTTGGTGCAGAC -3'

Sequencing Primer
(F):5'- CATTAGCACTGACCTTGGCTAAGTG -3'
(R):5'- AGACTCTGCAGCCACTTGC -3'

Posted On

2022-04-18