Mutagenetix > Incidental Mutation

Incidental Mutation 'R7978:Kptn'

651029

Institutional Source

Beutler Lab

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 #

R7978 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15853820-15861441 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15859697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 307 (D307G)

Ref Sequence

ENSEMBL: ENSMUSP00000006178 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000006178
AA Change: D307G

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

SMART Domains

Protein: ENSMUSP00000006178
Gene: ENSMUSG00000006021
AA Change: D307G

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

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

Coding Region Coverage

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

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 77,036,515 (GRCm39)	I342N	probably damaging	Het
Alb	A	T	5: 90,619,932 (GRCm39)	N453I	possibly damaging	Het
Aox4	C	A	1: 58,274,366 (GRCm39)	S384Y	probably damaging	Het
Ap1g1	C	T	8: 110,564,399 (GRCm39)	R315*	probably null	Het
Cachd1	T	C	4: 100,832,060 (GRCm39)	Y741H	probably damaging	Het
Cacna2d2	C	G	9: 107,395,456 (GRCm39)	L661V	probably benign	Het
Ccdc90b	T	A	7: 92,216,921 (GRCm39)	H64Q	probably damaging	Het
Ccdc93	C	A	1: 121,426,960 (GRCm39)	N582K	possibly damaging	Het
Cdh20	A	G	1: 109,921,835 (GRCm39)		probably benign	Het
Cnksr1	T	C	4: 133,963,342 (GRCm39)	N78D	probably damaging	Het
Cttnbp2nl	A	G	3: 104,915,307 (GRCm39)	V132A	probably damaging	Het
Cwc25	G	A	11: 97,644,044 (GRCm39)	Q230*	probably null	Het
Dsel	G	A	1: 111,787,449 (GRCm39)	R1029*	probably null	Het
Dspp	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	5: 104,326,227 (GRCm39)		probably benign	Het
Fam120a	T	C	13: 49,055,750 (GRCm39)	Y646C	probably damaging	Het
Hltf	T	C	3: 20,146,968 (GRCm39)	W576R	probably damaging	Het
Hmcn2	A	G	2: 31,279,359 (GRCm39)	N1787S	probably benign	Het
Ift122	A	G	6: 115,897,313 (GRCm39)	E904G	probably benign	Het
Igkv17-121	C	T	6: 68,013,806 (GRCm39)	T2I	unknown	Het
Ino80	T	G	2: 119,269,874 (GRCm39)	R590S	possibly damaging	Het
Intu	T	A	3: 40,652,069 (GRCm39)	I842N	probably damaging	Het
Itgae	A	T	11: 73,024,913 (GRCm39)	T1015S	probably damaging	Het
Kank1	GCGAACG	GCG	19: 25,388,569 (GRCm39)		probably null	Het
Kcna10	A	G	3: 107,101,663 (GRCm39)	E98G	probably damaging	Het
Kcnb2	T	A	1: 15,780,837 (GRCm39)	Y570N	probably benign	Het
Kmt2c	T	C	5: 25,564,676 (GRCm39)	I923V	probably benign	Het
Myo3b	T	C	2: 70,083,458 (GRCm39)	Y704H	probably damaging	Het
Or12d13	A	G	17: 37,647,392 (GRCm39)	F244L	probably benign	Het
Or4c100	T	A	2: 88,356,014 (GRCm39)	L29*	probably null	Het
Or4c58	A	T	2: 89,674,611 (GRCm39)	C235*	probably null	Het
Or4f59	T	C	2: 111,872,523 (GRCm39)	T285A	possibly damaging	Het
Pmel	G	A	10: 128,551,819 (GRCm39)	V218M	probably damaging	Het
Prkar2b	T	C	12: 32,013,024 (GRCm39)	H364R	possibly damaging	Het
Psd4	T	C	2: 24,294,867 (GRCm39)	F809S	probably damaging	Het
Rabgap1l	A	G	1: 160,078,838 (GRCm39)	S59P		Het
Rgr	A	G	14: 36,766,645 (GRCm39)	F134L	probably benign	Het
Rspry1	G	T	8: 95,349,753 (GRCm39)	R47L	probably damaging	Het
Scd3	G	T	19: 44,222,688 (GRCm39)	E113*	probably null	Het
Slc22a12	G	A	19: 6,586,938 (GRCm39)	A476V	possibly damaging	Het
Smg1	T	C	7: 117,792,878 (GRCm39)	E560G	unknown	Het
Snx3	A	G	10: 42,378,346 (GRCm39)	D7G	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Tbc1d12	A	G	19: 38,905,285 (GRCm39)	M667V	probably benign	Het
Tbc1d30	A	T	10: 121,142,104 (GRCm39)	V81E	probably damaging	Het
Tbc1d9	A	T	8: 83,966,583 (GRCm39)	I395F	probably damaging	Het
Tes	C	A	6: 17,096,322 (GRCm39)	N103K	probably benign	Het
Tet2	T	C	3: 133,193,426 (GRCm39)	Y336C	possibly damaging	Het
Tgfbr3	T	C	5: 107,287,726 (GRCm39)	N491S	probably damaging	Het
Tomt	T	C	7: 101,549,554 (GRCm39)	I245V	probably damaging	Het
Trbc1	T	C	6: 41,515,236 (GRCm39)	L28P		Het
Trp63	T	C	16: 25,639,436 (GRCm39)	V208A	unknown	Het
Ttll8	G	T	15: 88,799,565 (GRCm39)	N625K	probably benign	Het
Ush2a	T	A	1: 188,132,135 (GRCm39)	W786R	probably benign	Het
Vmn2r97	A	T	17: 19,167,854 (GRCm39)	I703F	probably 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
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
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'- GATGAACACTCGAGGCCAAC -3'
(R):5'- TATAGCAGAGCAGCTCCTGTGG -3'

Sequencing Primer
(F):5'- TCAGGAGTGAGTCTGGACCTCAG -3'
(R):5'- TCCTGTGGGGAGAGGGGC -3'

Posted On

2020-09-15