Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01339:Necap2'

74777

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Necap2

Ensembl Gene

ENSMUSG00000028923

Gene Name

NECAP endocytosis associated 2

Synonyms

1110005F07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

IGL01339

Quality Score

Status

Chromosome

Chromosomal Location

140793823-140805668 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140802276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 63 (T63I)

Ref Sequence

ENSEMBL: ENSMUSP00000030760 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030760] [ENSMUST00000153721]

AlphaFold

Q9D1J1

Predicted Effect

probably benign
Transcript: ENSMUST00000030760
AA Change: T63I

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000030760
Gene: ENSMUSG00000028923
AA Change: T63I

Domain	Start	End	E-Value	Type
Pfam:DUF1681	6	163	1.7e-60	PFAM
low complexity region	181	197	N/A	INTRINSIC
low complexity region	249	262	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122933

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130351

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132906

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144813

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145621

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149178

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150330

Predicted Effect

probably benign
Transcript: ENSMUST00000153721

SMART Domains

Protein: ENSMUSP00000121918
Gene: ENSMUSG00000028923

Domain	Start	End	E-Value	Type
Pfam:DUF1681	1	75	4.6e-32	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene likely encodes a member of the adaptin-ear-binding coat-associated protein family. Studies of a similar protein in rat suggest a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bahcc1	A	G	11: 120,180,338 (GRCm39)	T2565A	probably damaging	Het
C8a	A	C	4: 104,685,182 (GRCm39)	F354V	probably benign	Het
Cadps	C	T	14: 12,486,543 (GRCm38)	V876M	possibly damaging	Het
Chmp7	A	T	14: 69,956,855 (GRCm39)	I351N	probably damaging	Het
Clec7a	A	T	6: 129,442,449 (GRCm39)	W193R	probably damaging	Het
Clint1	T	C	11: 45,799,846 (GRCm39)	V535A	probably benign	Het
Clu	A	G	14: 66,213,037 (GRCm39)	E141G	probably damaging	Het
Cmah	A	T	13: 24,614,532 (GRCm39)	D159V	probably damaging	Het
Cntn2	A	T	1: 132,446,643 (GRCm39)		probably null	Het
Cox6a1	C	A	5: 115,483,898 (GRCm39)		probably benign	Het
Cyp2d10	C	T	15: 82,288,042 (GRCm39)	A195T	probably benign	Het
Dnah10	G	T	5: 124,854,276 (GRCm39)	K1901N	probably damaging	Het
Dnai3	T	C	3: 145,748,591 (GRCm39)	Y841C	probably benign	Het
Dop1a	G	A	9: 86,433,730 (GRCm39)	D2329N	possibly damaging	Het
Eipr1	A	G	12: 28,914,770 (GRCm39)	E308G	probably damaging	Het
Exoc4	T	C	6: 33,282,335 (GRCm39)		probably benign	Het
Fancd2	A	G	6: 113,530,713 (GRCm39)	I449V	probably benign	Het
Fbn2	T	C	18: 58,246,442 (GRCm39)	T487A	possibly damaging	Het
Fbxo40	T	C	16: 36,790,816 (GRCm39)	E98G	probably damaging	Het
Folh1	G	A	7: 86,375,306 (GRCm39)	T527I	probably damaging	Het
Gls	C	T	1: 52,227,867 (GRCm39)	D217N	probably damaging	Het
Gm6994	A	G	14: 77,718,618 (GRCm39)		probably benign	Het
Gpr149	A	T	3: 62,511,718 (GRCm39)	W94R	probably damaging	Het
Gpr158	A	G	2: 21,373,842 (GRCm39)	D259G	possibly damaging	Het
Hcn2	T	C	10: 79,564,902 (GRCm39)	L438P	probably damaging	Het
Hgd	A	C	16: 37,452,092 (GRCm39)	T374P	possibly damaging	Het
Ints3	A	G	3: 90,322,463 (GRCm39)		probably null	Het
Kctd5	A	T	17: 24,276,749 (GRCm39)	V172E	probably damaging	Het
Lmcd1	A	G	6: 112,287,586 (GRCm39)	I91V	probably benign	Het
Lrrc37a	A	G	11: 103,388,763 (GRCm39)	S2221P	unknown	Het
Ltk	T	A	2: 119,583,455 (GRCm39)	D310V	probably damaging	Het
Luzp1	T	A	4: 136,270,087 (GRCm39)	M770K	probably damaging	Het
Mxd4	G	A	5: 34,341,690 (GRCm39)		probably benign	Het
Mzb1	T	A	18: 35,781,399 (GRCm39)	H71L	probably benign	Het
Nefl	A	G	14: 68,323,931 (GRCm39)		probably benign	Het
Odam	G	A	5: 88,033,755 (GRCm39)		probably null	Het
Pcdh18	A	G	3: 49,710,247 (GRCm39)	I356T	probably benign	Het
Pcx	T	A	19: 4,670,263 (GRCm39)		probably null	Het
Pde2a	T	C	7: 101,156,366 (GRCm39)	S593P	probably benign	Het
Rapgef3	A	T	15: 97,655,940 (GRCm39)	L359M	probably damaging	Het
Rb1	T	C	14: 73,501,811 (GRCm39)		probably null	Het
Rbm44	A	G	1: 91,096,686 (GRCm39)	I976V	probably benign	Het
Rdh13	A	T	7: 4,430,623 (GRCm39)	S278R	probably damaging	Het
Rgma	A	G	7: 73,067,231 (GRCm39)	E256G	probably damaging	Het
Rnf112	A	T	11: 61,341,303 (GRCm39)	D402E	probably benign	Het
Rnps1	T	A	17: 24,641,273 (GRCm39)	D224E	probably damaging	Het
Scn10a	C	T	9: 119,451,832 (GRCm39)	V1364M	probably damaging	Het
Scn1a	C	T	2: 66,156,304 (GRCm39)	R535H	probably benign	Het
Scn8a	A	T	15: 100,930,082 (GRCm39)	D1431V	probably benign	Het
Setdb1	A	T	3: 95,245,891 (GRCm39)	L677*	probably null	Het
Slc17a8	T	A	10: 89,427,106 (GRCm39)	I148F	probably damaging	Het
Slx4ip	T	A	2: 136,885,975 (GRCm39)	C98*	probably null	Het
Sptbn2	T	G	19: 4,796,000 (GRCm39)	Y1726*	probably null	Het
Tcof1	T	C	18: 60,951,167 (GRCm39)		probably benign	Het
Tdrd3	G	A	14: 87,718,230 (GRCm39)	V210I	possibly damaging	Het
Tdrd9	G	A	12: 112,006,868 (GRCm39)	V911M	probably damaging	Het
Tmod4	G	A	3: 95,035,608 (GRCm39)	R252H	probably benign	Het
Tti1	G	T	2: 157,851,050 (GRCm39)	P63Q	possibly damaging	Het
Tuft1	A	T	3: 94,535,594 (GRCm39)	D109E	probably damaging	Het
Zcchc2	T	C	1: 105,957,505 (GRCm39)	S659P	probably damaging	Het

Other mutations in Necap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Necap2	APN	4	140,794,879 (GRCm39)	missense	probably damaging	1.00
IGL02172:Necap2	APN	4	140,805,621 (GRCm39)	unclassified	probably benign
IGL03323:Necap2	APN	4	140,795,533 (GRCm39)	missense	possibly damaging	0.89
R4794:Necap2	UTSW	4	140,798,912 (GRCm39)	intron	probably benign
R4951:Necap2	UTSW	4	140,799,834 (GRCm39)	splice site	probably null
R6931:Necap2	UTSW	4	140,805,523 (GRCm39)	critical splice donor site	probably null
R8377:Necap2	UTSW	4	140,795,534 (GRCm39)	missense	probably benign	0.00
R8461:Necap2	UTSW	4	140,797,531 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07