Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02268:Kptn'

286974

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kptn

Ensembl Gene

ENSMUSG00000006021

Gene Name

kaptin

Synonyms

2E4, actin-binding protein, C030013F01Rik, 2310042D10Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02268

Quality Score

Status

Chromosome

Chromosomal Location

15853820-15861441 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15857786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 229 (H229L)

Ref Sequence

ENSEMBL: ENSMUSP00000006178 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006178]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000006178
AA Change: H229L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000006178
Gene: ENSMUSG00000006021
AA Change: H229L

Domain	Start	End	E-Value	Type
low complexity region	288	300	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127584

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129080

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130170

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141430

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149255

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152044

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 encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. Mutations in this gene result in recessive mental retardation-41. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased body weight, increased susceptibility to bacterial infection and abnormal homeostasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	C	T	10: 28,862,242 (GRCm39)	C16Y	probably benign	Het
Abca13	C	T	11: 9,240,626 (GRCm39)	L830F	probably benign	Het
Apcdd1	T	C	18: 63,083,259 (GRCm39)	V363A	probably damaging	Het
Atosb	T	A	4: 43,036,468 (GRCm39)	R88*	probably null	Het
Cachd1	A	G	4: 100,809,294 (GRCm39)	I260V	possibly damaging	Het
Cass4	T	A	2: 172,268,962 (GRCm39)	M350K	possibly damaging	Het
Ccnjl	A	G	11: 43,470,615 (GRCm39)	T128A	probably benign	Het
Cd6	C	T	19: 10,773,752 (GRCm39)	G361D	probably benign	Het
Cdh22	T	C	2: 164,965,639 (GRCm39)		probably benign	Het
Ces2h	T	A	8: 105,746,572 (GRCm39)	F475Y	probably benign	Het
Col15a1	A	T	4: 47,245,380 (GRCm39)	T44S	probably damaging	Het
Cplx3	C	T	9: 57,509,741 (GRCm39)	E86K	possibly damaging	Het
Crbn	A	G	6: 106,772,004 (GRCm39)	V100A	possibly damaging	Het
D430041D05Rik	C	A	2: 104,071,500 (GRCm39)	V1267L	possibly damaging	Het
Ecrg4	T	A	1: 43,770,111 (GRCm39)	C23S	probably damaging	Het
Elapor1	C	A	3: 108,375,113 (GRCm39)	A585S	probably benign	Het
F930017D23Rik	A	G	10: 43,480,405 (GRCm39)		noncoding transcript	Het
Fastkd3	A	G	13: 68,731,796 (GRCm39)	D39G	probably damaging	Het
Golgb1	T	A	16: 36,733,490 (GRCm39)	S912R	probably benign	Het
H2-T24	T	C	17: 36,328,264 (GRCm39)	Y73C	probably damaging	Het
Ifna9	A	T	4: 88,510,591 (GRCm39)	L11*	probably null	Het
Igsf10	A	T	3: 59,238,573 (GRCm39)	L536*	probably null	Het
Itprid1	A	T	6: 55,861,673 (GRCm39)		probably benign	Het
Kcnma1	A	T	14: 23,593,144 (GRCm39)	I215K	probably damaging	Het
Kdm4c	A	C	4: 74,291,953 (GRCm39)	I857L	possibly damaging	Het
Krt32	A	T	11: 99,978,967 (GRCm39)	M29K	probably benign	Het
Lama2	A	G	10: 26,877,112 (GRCm39)		probably benign	Het
Lpcat2b	A	C	5: 107,581,982 (GRCm39)	D437A	probably damaging	Het
Lrrc8c	T	C	5: 105,755,764 (GRCm39)	L513P	probably damaging	Het
Mon1a	T	C	9: 107,778,997 (GRCm39)	V407A	possibly damaging	Het
Myo5c	C	T	9: 75,153,519 (GRCm39)	P135L	probably damaging	Het
Myof	C	T	19: 37,942,877 (GRCm39)	V218M	possibly damaging	Het
Myof	T	A	19: 37,963,311 (GRCm39)	I429F	possibly damaging	Het
Nbas	A	G	12: 13,455,398 (GRCm39)	D1204G	possibly damaging	Het
Nckap1	G	A	2: 80,358,962 (GRCm39)	P560S	probably benign	Het
Notch2	G	A	3: 98,044,713 (GRCm39)	G1545D	probably damaging	Het
Ntrk1	G	A	3: 87,688,838 (GRCm39)	H572Y	probably damaging	Het
Or2t44	T	C	11: 58,677,551 (GRCm39)	F164L	probably benign	Het
Or7e177	T	C	9: 20,211,588 (GRCm39)	S31P	probably damaging	Het
Pate8	T	C	9: 36,493,166 (GRCm39)	Y52C	possibly damaging	Het
Pcdh15	A	T	10: 74,178,504 (GRCm39)	D587V	probably damaging	Het
Pik3cb	T	C	9: 98,928,609 (GRCm39)	Y882C	probably benign	Het
Plch1	T	A	3: 63,606,704 (GRCm39)	*1074C	probably null	Het
Plcxd1	T	C	5: 110,248,140 (GRCm39)		probably benign	Het
Ppp2r2d	A	G	7: 138,474,700 (GRCm39)	N27S	probably null	Het
Prkar2a	A	G	9: 108,624,152 (GRCm39)	M390V	probably benign	Het
Rab3gap1	A	G	1: 127,796,695 (GRCm39)	T18A	probably damaging	Het
Ranbp2	T	C	10: 58,329,475 (GRCm39)		probably benign	Het
Rasl12	T	C	9: 65,305,946 (GRCm39)	S34P	probably damaging	Het
Rpusd3	A	T	6: 113,395,818 (GRCm39)	L65Q	possibly damaging	Het
Rtf2	A	G	2: 172,310,639 (GRCm39)	K290R	probably damaging	Het
Rwdd4a	T	A	8: 48,003,731 (GRCm39)	L179*	probably null	Het
Scgb1b24	A	G	7: 33,444,388 (GRCm39)	E87G	possibly damaging	Het
Sgo2a	A	G	1: 58,056,881 (GRCm39)	I1022V	probably benign	Het
Smg1	A	C	7: 117,781,764 (GRCm39)	I1174M	probably benign	Het
Spata17	A	T	1: 186,872,595 (GRCm39)	M72K	probably damaging	Het
Synpo2	G	A	3: 122,910,632 (GRCm39)	P338S	probably damaging	Het
Tpi1	G	A	6: 124,791,087 (GRCm39)	T50I	probably benign	Het
Trpm1	A	G	7: 63,867,362 (GRCm39)	E354G	probably damaging	Het
Uba2	A	G	7: 33,842,161 (GRCm39)		probably null	Het
Wnk1	G	A	6: 119,914,334 (GRCm39)	R1823*	probably null	Het
Zfp248	A	C	6: 118,430,801 (GRCm39)		probably benign	Het
Zfp51	A	T	17: 21,683,681 (GRCm39)	K99*	probably null	Het

Other mutations in Kptn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Kptn	APN	7	15,854,050 (GRCm39)	missense	possibly damaging	0.93
IGL01844:Kptn	APN	7	15,857,897 (GRCm39)	missense	probably benign	0.05
IGL01938:Kptn	APN	7	15,858,714 (GRCm39)	missense	probably damaging	1.00
IGL02382:Kptn	APN	7	15,857,945 (GRCm39)	missense	probably benign	0.00
IGL02399:Kptn	APN	7	15,861,038 (GRCm39)	unclassified	probably benign
IGL03237:Kptn	APN	7	15,854,050 (GRCm39)	missense	probably damaging	0.97
captain	UTSW	7	15,859,709 (GRCm39)	missense	probably damaging	1.00
commander	UTSW	7	15,859,710 (GRCm39)	nonsense	probably null
Mate	UTSW	7	15,857,028 (GRCm39)	missense	probably damaging	1.00
PIT4687001:Kptn	UTSW	7	15,859,751 (GRCm39)	missense	probably damaging	0.96
R0344:Kptn	UTSW	7	15,859,666 (GRCm39)	missense	probably damaging	1.00
R0726:Kptn	UTSW	7	15,854,647 (GRCm39)	missense	probably damaging	0.99
R1421:Kptn	UTSW	7	15,856,949 (GRCm39)	splice site	probably benign
R1545:Kptn	UTSW	7	15,857,888 (GRCm39)	missense	probably benign	0.12
R2357:Kptn	UTSW	7	15,859,709 (GRCm39)	missense	probably damaging	1.00
R5068:Kptn	UTSW	7	15,857,027 (GRCm39)	missense	probably damaging	1.00
R5127:Kptn	UTSW	7	15,859,710 (GRCm39)	nonsense	probably null
R5195:Kptn	UTSW	7	15,857,028 (GRCm39)	missense	probably damaging	1.00
R5714:Kptn	UTSW	7	15,854,683 (GRCm39)	splice site	probably null
R7121:Kptn	UTSW	7	15,857,023 (GRCm39)	missense	probably damaging	1.00
R7213:Kptn	UTSW	7	15,854,704 (GRCm39)	missense	possibly damaging	0.55
R7849:Kptn	UTSW	7	15,853,966 (GRCm39)	missense	probably damaging	1.00
R7978:Kptn	UTSW	7	15,859,697 (GRCm39)	missense	probably damaging	1.00
R8139:Kptn	UTSW	7	15,857,901 (GRCm39)	missense	probably benign	0.00
Z1088:Kptn	UTSW	7	15,856,995 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16