Mutagenetix > Incidental Mutations

Incidental Mutation 'R0344:Kptn'

26434

Institutional Source

Beutler Lab

Gene Symbol

Kptn

Ensembl Gene

ENSMUSG00000006021

Gene Name

kaptin

Synonyms

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

MMRRC Submission

038551-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0344 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16119895-16127516 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 16125741 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 297 (Q297K)

Ref Sequence

ENSEMBL: ENSMUSP00000006178 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006178] [ENSMUST00000168693] [ENSMUST00000211649]

Predicted Effect

probably damaging
Transcript: ENSMUST00000006178
AA Change: Q297K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000006178
Gene: ENSMUSG00000006021
AA Change: Q297K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000168693

SMART Domains

Protein: ENSMUSP00000128926
Gene: ENSMUSG00000030376

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	23	32	N/A	INTRINSIC
Pfam:Na_Ca_ex	74	245	8.6e-35	PFAM
Pfam:Na_Ca_ex_C	248	378	7.8e-50	PFAM
Calx_beta	383	483	3.27e-47	SMART
Calx_beta	512	612	3.37e-49	SMART
low complexity region	704	717	N/A	INTRINSIC
Pfam:Na_Ca_ex	747	912	2.5e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211649

Meta Mutation Damage Score

0.0855

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.3%
20x: 93.6%

Validation Efficiency

99% (81/82)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553J12Rik	T	A	16: 88,820,301	C29*	probably null	Het
Abca4	G	A	3: 122,083,964	C324Y	probably damaging	Het
Ablim2	T	G	5: 35,836,933		probably benign	Het
Abr	A	T	11: 76,479,044	V115E	probably damaging	Het
Adgrl2	C	T	3: 148,865,595		probably null	Het
Aff3	A	T	1: 38,203,932	S936T	probably benign	Het
Agap3	T	C	5: 24,451,202		probably benign	Het
Ahrr	T	A	13: 74,214,586	S393C	probably damaging	Het
Amfr	T	C	8: 93,987,370		probably null	Het
Ankrd26	C	A	6: 118,507,637		probably null	Het
Asxl3	G	A	18: 22,517,611	V886I	probably benign	Het
Atp5a1	C	A	18: 77,780,195	N356K	probably damaging	Het
Atp5s	T	C	12: 69,740,889		probably benign	Het
AU021092	A	T	16: 5,222,167	M31K	possibly damaging	Het
Bicral	A	G	17: 46,814,052		probably benign	Het
Btbd9	C	T	17: 30,274,942	D492N	possibly damaging	Het
C3ar1	T	C	6: 122,850,772	D162G	probably benign	Het
Camkk2	C	T	5: 122,763,877	C123Y	probably benign	Het
Casp8ap2	A	T	4: 32,644,079	I1051F	probably damaging	Het
Catsperg1	A	T	7: 29,195,540	V544E	probably damaging	Het
Cdc27	G	A	11: 104,526,991		probably benign	Het
Colec12	C	T	18: 9,858,921	P568L	unknown	Het
Dennd6b	T	C	15: 89,196,229	Q56R	probably benign	Het
Fbxl17	G	A	17: 63,385,067		probably benign	Het
Fubp1	T	C	3: 152,219,713	V164A	probably damaging	Het
Gdap2	G	A	3: 100,178,256	G165S	probably damaging	Het
Gm13084	A	T	4: 143,810,768	I331N	probably damaging	Het
Gns	A	G	10: 121,383,423	K352E	probably benign	Het
Gtf2ird2	C	T	5: 134,191,249	T22M	probably damaging	Het
Herc3	A	G	6: 58,868,628		probably benign	Het
Hp1bp3	C	T	4: 138,237,209	S348F	probably damaging	Het
Inpp1	A	T	1: 52,799,354	F45L	probably damaging	Het
Ipo4	T	C	14: 55,625,942	Q1073R	possibly damaging	Het
Itgae	A	G	11: 73,118,147	K485E	probably benign	Het
Jak2	G	A	19: 29,283,629	V342I	probably damaging	Het
Lims2	A	G	18: 31,944,520	E103G	probably benign	Het
Mthfr	C	G	4: 148,055,428	S618W	probably damaging	Het
Nanos3	C	T	8: 84,176,134	R133Q	probably damaging	Het
Nup133	A	G	8: 123,917,446	V727A	possibly damaging	Het
Oas2	T	G	5: 120,743,087	E313A	probably damaging	Het
Olfr1031	T	A	2: 85,992,382	C188*	probably null	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr487	A	T	7: 108,211,742	Y262*	probably null	Het
Olfr691	C	A	7: 105,337,607	M36I	probably benign	Het
Olfr961	G	A	9: 39,647,350	C208Y	probably damaging	Het
Park7	A	G	4: 150,908,349	V20A	possibly damaging	Het
Phldb1	C	A	9: 44,701,667	V919L	probably benign	Het
Pkhd1l1	C	A	15: 44,597,011	H4205Q	probably benign	Het
Plekhg3	G	T	12: 76,566,266	E449*	probably null	Het
Pstpip1	T	C	9: 56,126,645	V301A	probably benign	Het
Ptdss1	G	A	13: 66,933,572	R22H	probably damaging	Het
Ptprq	A	G	10: 107,705,582	V361A	probably benign	Het
Ralgapa2	A	T	2: 146,346,794	V1309E	possibly damaging	Het
Rere	T	C	4: 150,610,981		probably benign	Het
Sbk3	T	A	7: 4,967,405	T322S	possibly damaging	Het
Scn9a	T	A	2: 66,505,010	I1203L	probably damaging	Het
Setdb1	A	T	3: 95,326,131		probably benign	Het
Sik3	C	A	9: 46,208,811	Q683K	probably damaging	Het
Slc24a5	A	G	2: 125,085,701	I307V	probably benign	Het
Smg6	A	G	11: 74,929,821	D306G	probably damaging	Het
Snx13	G	A	12: 35,086,900	W120*	probably null	Het
Snx5	A	G	2: 144,257,208		probably benign	Het
Srsf5	T	C	12: 80,947,524	S76P	probably benign	Het
Stard6	A	G	18: 70,496,115	D31G	probably damaging	Het
Taf3	A	G	2: 9,951,898	M333T	probably benign	Het
Taf6	T	G	5: 138,181,147	I377L	probably benign	Het
Taf8	G	T	17: 47,493,580	N252K	probably benign	Het
Tfap2c	A	G	2: 172,551,503	T113A	probably benign	Het
Tmem246	T	C	4: 49,586,566	T201A	probably benign	Het
Tmtc4	C	T	14: 122,978,160	V25M	probably damaging	Het
Topbp1	T	A	9: 103,328,687	D841E	probably damaging	Het
Topbp1	T	A	9: 103,308,733		probably benign	Het
Ttn	A	T	2: 76,712,489	D33384E	probably damaging	Het
Unc13c	T	C	9: 73,930,785	E928G	probably benign	Het
Vav1	T	C	17: 57,296,090	F81L	probably damaging	Het
Vmn2r63	A	G	7: 42,903,618	I738T	probably damaging	Het
Vmn2r87	C	T	10: 130,479,937	E87K	probably damaging	Het
Zfp229	A	T	17: 21,745,841	M351L	probably benign	Het

Other mutations in Kptn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Kptn	APN	7	16120125	missense	possibly damaging	0.93
IGL01844:Kptn	APN	7	16123972	missense	probably benign	0.05
IGL01938:Kptn	APN	7	16124789	missense	probably damaging	1.00
IGL02268:Kptn	APN	7	16123861	missense	probably benign	0.03
IGL02382:Kptn	APN	7	16124020	missense	probably benign	0.00
IGL02399:Kptn	APN	7	16127113	unclassified	probably benign
IGL03237:Kptn	APN	7	16120125	missense	probably damaging	0.97
captain	UTSW	7	16125784	missense	probably damaging	1.00
commander	UTSW	7	16125785	nonsense	probably null
Mate	UTSW	7	16123103	missense	probably damaging	1.00
PIT4687001:Kptn	UTSW	7	16125826	missense	probably damaging	0.96
R0726:Kptn	UTSW	7	16120722	missense	probably damaging	0.99
R1421:Kptn	UTSW	7	16123024	splice site	probably benign
R1545:Kptn	UTSW	7	16123963	missense	probably benign	0.12
R2357:Kptn	UTSW	7	16125784	missense	probably damaging	1.00
R5068:Kptn	UTSW	7	16123102	missense	probably damaging	1.00
R5127:Kptn	UTSW	7	16125785	nonsense	probably null
R5195:Kptn	UTSW	7	16123103	missense	probably damaging	1.00
R5714:Kptn	UTSW	7	16120758	splice site	probably null
R7121:Kptn	UTSW	7	16123098	missense	probably damaging	1.00
R7213:Kptn	UTSW	7	16120779	missense	possibly damaging	0.55
R7849:Kptn	UTSW	7	16120041	missense	probably damaging	1.00
R7978:Kptn	UTSW	7	16125772	missense	probably damaging	1.00
R8139:Kptn	UTSW	7	16123976	missense	probably benign	0.00
Z1088:Kptn	UTSW	7	16123070	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTAGAAGTTCAGGGATCAGGGC -3'
(R):5'- TCAATGCAGAGACACATGAGTGGC -3'

Sequencing Primer
(F):5'- CACTGTGTCTCCAAGAGCC -3'
(R):5'- ATGAGTGGCAGACCCATCTTC -3'

Posted On

2013-04-16