Mutagenetix > Incidental Mutation

Incidental Mutation 'R7121:Kptn'

552004

Institutional Source

Beutler Lab

Gene Symbol

Kptn

Ensembl Gene

ENSMUSG00000006021

Gene Name

kaptin

Synonyms

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

MMRRC Submission

045210-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7121 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15853820-15861441 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15857023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 170 (H170Q)

Ref Sequence

ENSEMBL: ENSMUSP00000006178 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000006178
AA Change: H170Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000006178
Gene: ENSMUSG00000006021
AA Change: H170Q

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

Meta Mutation Damage Score

0.6745

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (71/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411K16Rik	C	T	19: 42,041,112 (GRCm39)	A81V	probably benign	Het
Abcc9	A	T	6: 142,634,853 (GRCm39)	L137*	probably null	Het
Akap10	A	G	11: 61,777,524 (GRCm39)		probably null	Het
Alms1	T	A	6: 85,601,604 (GRCm39)	Y1683N	probably damaging	Het
Atl1	A	G	12: 69,978,408 (GRCm39)	S127G	probably damaging	Het
Cadm1	G	A	9: 47,710,708 (GRCm39)	V204M	probably damaging	Het
Cbr3	T	A	16: 93,487,438 (GRCm39)	I207N	probably damaging	Het
Ccdc148	A	T	2: 58,717,579 (GRCm39)	Y475N	probably damaging	Het
Ccdc33	A	T	9: 57,988,167 (GRCm39)	S144T	probably benign	Het
Ceacam5	C	A	7: 17,479,462 (GRCm39)	A193E	probably benign	Het
Chd2	T	C	7: 73,119,418 (GRCm39)	D1042G	probably benign	Het
Chmp5	A	T	4: 40,952,217 (GRCm39)		probably null	Het
Clca3a1	T	A	3: 144,717,567 (GRCm39)	N467I	probably damaging	Het
D130040H23Rik	T	C	8: 69,754,931 (GRCm39)	V112A	probably damaging	Het
Dbh	A	T	2: 27,058,318 (GRCm39)	D162V	probably damaging	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dnm2	C	T	9: 21,385,862 (GRCm39)	T295I	probably benign	Het
Faiml	A	C	9: 99,116,446 (GRCm39)	D81E	probably benign	Het
Fer1l4	T	A	2: 155,886,477 (GRCm39)	Y720F	probably benign	Het
Fn1	A	C	1: 71,639,697 (GRCm39)		probably benign	Het
Ftsj3	T	C	11: 106,143,123 (GRCm39)	E397G	probably damaging	Het
Gm16506	T	C	14: 43,964,817 (GRCm39)	K42E		Het
Gpr179	A	G	11: 97,225,556 (GRCm39)	S2200P	probably benign	Het
Gusb	T	C	5: 130,028,884 (GRCm39)	D202G	probably benign	Het
Hspe1	A	G	1: 55,128,310 (GRCm39)	E35G	probably damaging	Het
Lama3	G	A	18: 12,595,839 (GRCm39)	A923T	probably benign	Het
Lmo7	T	A	14: 102,124,471 (GRCm39)	I432K	probably damaging	Het
Maneal	G	A	4: 124,750,905 (GRCm39)	P284S	probably benign	Het
Mrgbp	A	G	2: 180,224,682 (GRCm39)	T28A	probably benign	Het
Myo1h	T	C	5: 114,476,290 (GRCm39)	V493A		Het
Naxd	T	C	8: 11,556,745 (GRCm39)	L122P	probably damaging	Het
Neto2	T	C	8: 86,397,020 (GRCm39)		probably null	Het
Obscn	T	A	11: 58,904,078 (GRCm39)	R7299*	probably null	Het
Odf2l	G	A	3: 144,845,581 (GRCm39)	V363I	possibly damaging	Het
Or2g25	T	C	17: 37,970,699 (GRCm39)	H175R	probably damaging	Het
Or2t35	A	G	14: 14,407,998 (GRCm38)	T257A	possibly damaging	Het
Or4c100	A	T	2: 88,356,170 (GRCm39)	D81V	probably damaging	Het
Or52a5b	A	T	7: 103,416,940 (GRCm39)	Y221*	probably null	Het
Or5b105	T	A	19: 13,080,537 (GRCm39)	I44F	probably benign	Het
Otud3	G	A	4: 138,624,067 (GRCm39)	P325L	probably benign	Het
Palb2	T	C	7: 121,724,057 (GRCm39)	N564S	probably benign	Het
Pcnt	A	G	10: 76,263,761 (GRCm39)	V401A	possibly damaging	Het
Plcd4	G	A	1: 74,604,524 (GRCm39)	E767K	probably benign	Het
Ppp3ca	T	C	3: 136,574,387 (GRCm39)	F95S	probably damaging	Het
Prkar2a	A	G	9: 108,569,821 (GRCm39)	T56A	probably benign	Het
Psma2	T	A	13: 14,799,815 (GRCm39)	D186E	probably benign	Het
Psmd11	T	A	11: 80,329,099 (GRCm39)	Y72*	probably null	Het
Ror1	G	A	4: 100,160,142 (GRCm39)	D53N	probably benign	Het
Rubcn	C	T	16: 32,656,839 (GRCm39)	R527Q	probably damaging	Het
Sgca	G	A	11: 94,860,373 (GRCm39)	P255S	possibly damaging	Het
Skint11	A	T	4: 114,084,993 (GRCm39)	R167S	probably benign	Het
Slco5a1	A	G	1: 13,060,661 (GRCm39)	V20A	probably benign	Het
Snai2	T	C	16: 14,524,970 (GRCm39)	S159P	probably benign	Het
Taar2	T	G	10: 23,816,725 (GRCm39)	S88R	probably damaging	Het
Tacc3	T	A	5: 33,824,509 (GRCm39)	N378K	possibly damaging	Het
Tek	A	G	4: 94,699,647 (GRCm39)	K342E	probably benign	Het
Tm9sf3	G	T	19: 41,233,944 (GRCm39)	S198*	probably null	Het
Tmbim4	T	A	10: 120,051,514 (GRCm39)	F56I	possibly damaging	Het
Tsen34	T	A	7: 3,697,986 (GRCm39)	S85T	probably benign	Het
Ttc27	C	A	17: 75,054,710 (GRCm39)	Q339K	probably benign	Het
Ubap2	G	T	4: 41,205,550 (GRCm39)	P636T	probably benign	Het
Ubr1	G	A	2: 120,705,979 (GRCm39)	L1495F	probably benign	Het
Vsig10	T	C	5: 117,481,967 (GRCm39)	S386P	probably damaging	Het
Wnk2	C	A	13: 49,300,653 (GRCm39)	R19L	probably benign	Het
Wsb2	T	C	5: 117,508,944 (GRCm39)	L126P	probably damaging	Het
Xylb	A	G	9: 119,211,358 (GRCm39)	I402V	probably benign	Het
Yrdc	A	G	4: 124,744,748 (GRCm39)	S61G	probably benign	Het
Zbtb3	A	G	19: 8,780,771 (GRCm39)	D128G	probably damaging	Het
Zfp423	C	T	8: 88,507,489 (GRCm39)	G952R	probably damaging	Het
Zfp646	A	G	7: 127,478,944 (GRCm39)	T374A	possibly damaging	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
IGL02268:Kptn	APN	7	15,857,786 (GRCm39)	missense	probably benign	0.03
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
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

Predicted Primers

PCR Primer
(F):5'- CAAATGCATTTCAGGCTGGGC -3'
(R):5'- CTACTGGTCAGGTTCGTGAG -3'

Sequencing Primer
(F):5'- GTTCAAAGCCATGTAGCTATGGC -3'
(R):5'- CAGGTTCGTGAGCTCTGGAAAG -3'

Posted On

2019-05-15