Mutagenetix > Incidental Mutation

Incidental Mutation 'R0709:Angpt4'

62644

Institutional Source

Beutler Lab

Gene Symbol

Angpt4

Ensembl Gene

ENSMUSG00000027460

Gene Name

angiopoietin 4

Synonyms

MMRRC Submission

038892-MU

Accession Numbers

Essential gene?

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

Stock #

R0709 (G1)

Quality Score

119

Status

Validated

Chromosome

Chromosomal Location

151753130-151787257 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 151776434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 321 (P321T)

Ref Sequence

ENSEMBL: ENSMUSP00000028955 (fasta)

Gene Model

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

AlphaFold

Q9WVH6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028955
AA Change: P321T

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000028955
Gene: ENSMUSG00000027460
AA Change: P321T

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

Meta Mutation Damage Score

0.2482

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (83/85)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	T	16: 14,436,358 (GRCm39)	D137V	probably damaging	Het
Aar2	C	T	2: 156,408,930 (GRCm39)	P378L	probably damaging	Het
Abcc5	A	T	16: 20,195,342 (GRCm39)	H718Q	possibly damaging	Het
Ace	G	T	11: 105,872,364 (GRCm39)	L319F	probably damaging	Het
Atrip	T	C	9: 108,896,171 (GRCm39)	N282S	probably benign	Het
AW554918	A	C	18: 25,596,711 (GRCm39)	S525R	probably damaging	Het
Ccdc136	T	A	6: 29,414,969 (GRCm39)	I644N	possibly damaging	Het
Ccdc178	A	G	18: 22,200,719 (GRCm39)	Y413H	probably damaging	Het
Ccdc7b	A	G	8: 129,863,127 (GRCm39)	H223R	probably benign	Het
Cd109	T	C	9: 78,579,260 (GRCm39)	V634A	possibly damaging	Het
Col7a1	T	A	9: 108,790,616 (GRCm39)		probably benign	Het
Copb2	A	T	9: 98,445,220 (GRCm39)		probably benign	Het
Csrnp3	C	T	2: 65,852,907 (GRCm39)	S445L	probably damaging	Het
Cxcl13	G	T	5: 96,106,530 (GRCm39)	C34F	probably damaging	Het
Dars2	T	C	1: 160,874,498 (GRCm39)	E397G	probably benign	Het
Dlg5	C	T	14: 24,196,323 (GRCm39)	V1625M	probably damaging	Het
Dnah12	T	G	14: 26,606,222 (GRCm39)		probably benign	Het
Eif4a1	C	A	11: 69,561,078 (GRCm39)	A76S	probably damaging	Het
Fam162b	T	A	10: 51,463,347 (GRCm39)	I107L	probably damaging	Het
Fbxo30	G	T	10: 11,167,057 (GRCm39)	C593F	possibly damaging	Het
Fut9	A	G	4: 25,620,359 (GRCm39)	F152L	probably damaging	Het
Galnt2	G	A	8: 125,070,085 (GRCm39)	G534D	probably benign	Het
Gm973	C	T	1: 59,597,393 (GRCm39)		probably benign	Het
Golm2	T	A	2: 121,697,906 (GRCm39)	V74E	probably damaging	Het
Gprc5a	T	A	6: 135,055,948 (GRCm39)	S132T	probably damaging	Het
Hk3	G	A	13: 55,162,543 (GRCm39)	R47C	probably damaging	Het
Hrnr	A	T	3: 93,239,815 (GRCm39)	Q3351L	unknown	Het
Icam1	T	A	9: 20,930,423 (GRCm39)	F92L	probably damaging	Het
Ifi213	C	T	1: 173,417,366 (GRCm39)	V349I	possibly damaging	Het
Il12rb2	T	C	6: 67,275,888 (GRCm39)		probably benign	Het
Irx3	A	G	8: 92,526,048 (GRCm39)	V487A	possibly damaging	Het
Kalrn	A	G	16: 33,855,924 (GRCm39)	V204A	probably damaging	Het
Krt16	T	C	11: 100,137,280 (GRCm39)		probably benign	Het
Loxhd1	G	A	18: 77,492,665 (GRCm39)	V1369I	probably benign	Het
Med13	T	A	11: 86,210,422 (GRCm39)	K573N	possibly damaging	Het
Mnat1	A	G	12: 73,234,962 (GRCm39)	R204G	possibly damaging	Het
Myt1l	A	T	12: 29,877,732 (GRCm39)	D461V	unknown	Het
Nek6	T	A	2: 38,447,858 (GRCm39)	S41T	probably damaging	Het
Nudt22	T	C	19: 6,970,874 (GRCm39)	E232G	probably damaging	Het
Numbl	C	A	7: 26,973,415 (GRCm39)	F192L	probably damaging	Het
Or4c105	C	T	2: 88,648,226 (GRCm39)	T237I	probably benign	Het
Or7g12	T	A	9: 18,899,422 (GRCm39)	I46K	probably damaging	Het
P2rx4	T	C	5: 122,852,467 (GRCm39)	V47A	probably damaging	Het
Phka1	T	A	X: 101,629,710 (GRCm39)	I478F	probably damaging	Het
Pkn2	G	A	3: 142,536,281 (GRCm39)	T200I	probably damaging	Het
Plcg1	T	A	2: 160,593,698 (GRCm39)		probably null	Het
Polg2	C	T	11: 106,659,239 (GRCm39)	G425R	probably damaging	Het
Ptprm	G	T	17: 67,251,327 (GRCm39)		probably null	Het
Reg1	G	A	6: 78,405,101 (GRCm39)	R108H	possibly damaging	Het
Slc19a2	T	A	1: 164,084,367 (GRCm39)	F86I	probably damaging	Het
Slc26a11	T	C	11: 119,265,603 (GRCm39)	L372P	probably damaging	Het
Slc2a4	C	T	11: 69,836,985 (GRCm39)	V28M	possibly damaging	Het
Snap29	A	G	16: 17,224,012 (GRCm39)	N9S	probably damaging	Het
Snd1	C	G	6: 28,545,469 (GRCm39)		probably benign	Het
Sorcs3	G	A	19: 48,475,845 (GRCm39)	A235T	probably benign	Het
Sp100	T	A	1: 85,622,002 (GRCm39)	N362K	probably damaging	Het
Sqor	A	T	2: 122,641,775 (GRCm39)	I32F	probably benign	Het
Stx6	C	T	1: 155,069,040 (GRCm39)	R189C	probably damaging	Het
Tchp	T	C	5: 114,855,514 (GRCm39)	I298T	probably damaging	Het
Themis	A	G	10: 28,637,570 (GRCm39)	I225V	probably benign	Het
Timm50	A	T	7: 28,006,366 (GRCm39)	V245E	probably damaging	Het
Tnxb	A	G	17: 34,908,328 (GRCm39)	E1327G	probably damaging	Het
Tpp1	C	T	7: 105,398,814 (GRCm39)	R205H	probably benign	Het
Tradd	T	C	8: 105,987,276 (GRCm39)	E10G	possibly damaging	Het
Trim43a	G	A	9: 88,464,199 (GRCm39)	E37K	probably benign	Het
Ttn	T	C	2: 76,729,747 (GRCm39)		probably benign	Het
Ttr	A	T	18: 20,803,034 (GRCm39)		probably null	Het
Ubp1	A	G	9: 113,773,999 (GRCm39)	Y66C	probably damaging	Het
Vmn2r102	A	T	17: 19,897,881 (GRCm39)	M299L	probably benign	Het
Vmn2r104	A	T	17: 20,263,166 (GRCm39)	N98K	probably damaging	Het
Yipf5	A	G	18: 40,340,825 (GRCm39)	S176P	probably benign	Het
Zpbp2	C	T	11: 98,444,763 (GRCm39)	T97I	probably 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
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
R9359:Angpt4	UTSW	2	151,780,892 (GRCm39)	missense	probably damaging	0.98
R9403:Angpt4	UTSW	2	151,780,892 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGTGTAATGCCATGCCTGCCTG -3'
(R):5'- AGCATCGAACAGTTTCCTTCTGCC -3'

Sequencing Primer
(F):5'- CATGCCTGCCTGGCCTC -3'
(R):5'- TACCCAAGGGTAGACTGCTG -3'

Posted On

2013-07-30