Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01123:Pakap'

50940

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pakap

Ensembl Gene

ENSMUSG00000089945

Gene Name

paralemmin A kinase anchor protein

Synonyms

Palm2Akap2, AF064781, Palm2-Akap2, Gm20459

Accession Numbers

Is this an essential gene?

Not available question?

Stock #

IGL01123

Quality Score

Status

Chromosome

Chromosomal Location

57568179-57896982 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 57757627 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 188 (Q188*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098066] [ENSMUST00000107600] [ENSMUST00000126465]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000098065

Predicted Effect

probably benign
Transcript: ENSMUST00000098066

SMART Domains

Protein: ENSMUSP00000095674
Gene: ENSMUSG00000089945

Domain	Start	End	E-Value	Type
Pfam:Paralemmin	67	138	6.3e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107600

SMART Domains

Protein: ENSMUSP00000103226
Gene: ENSMUSG00000038729

Domain	Start	End	E-Value	Type
low complexity region	193	204	N/A	INTRINSIC
low complexity region	254	268	N/A	INTRINSIC
coiled coil region	297	355	N/A	INTRINSIC
Pfam:AKAP2_C	636	913	2.8e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126465

SMART Domains

Protein: ENSMUSP00000130230
Gene: ENSMUSG00000089945

Domain	Start	End	E-Value	Type
Pfam:Paralemmin	67	138	6.3e-23	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000150412
AA Change: Q188*

SMART Domains

Protein: ENSMUSP00000117466
Gene: ENSMUSG00000089945
AA Change: Q188*

Domain	Start	End	E-Value	Type
low complexity region	15	28	N/A	INTRINSIC
low complexity region	35	59	N/A	INTRINSIC
Pfam:Paralemmin	115	269	6.5e-23	PFAM
low complexity region	396	407	N/A	INTRINSIC
low complexity region	457	471	N/A	INTRINSIC
coiled coil region	499	557	N/A	INTRINSIC
Pfam:AKAP2_C	847	1129	1.9e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154462

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158661

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This locus represents naturally occurring readthrough transcription between the neighboring Palm2 (paralemmin 2) and Akap2 (A kinase (PRKA) anchor protein 2) genes on chromosome 4. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. Similar readthrough transcription has also been observed in human, as described in PMID: 11478809. [provided by RefSeq, Feb 2015]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	G	T	10: 28,973,938	D167E	probably damaging	Het
Aadat	A	T	8: 60,526,614	E170V	probably benign	Het
Acsf2	T	C	11: 94,570,450	E300G	probably benign	Het
Agbl3	C	T	6: 34,846,976	Q859*	probably null	Het
Arhgap11a	T	C	2: 113,834,773		probably benign	Het
Arhgef40	C	A	14: 51,994,346	Q730K	probably damaging	Het
Armc3	C	T	2: 19,201,805	P13L	possibly damaging	Het
B3gnt2	T	A	11: 22,836,490	T233S	probably benign	Het
Bnc1	G	A	7: 81,973,707	Q591*	probably null	Het
Bsn	A	T	9: 108,115,986	F856I	probably damaging	Het
CK137956	T	A	4: 127,935,850	T558S	probably benign	Het
Coq8b	G	A	7: 27,240,084	V180I	probably damaging	Het
Csmd1	A	T	8: 17,534,928	L16Q	possibly damaging	Het
Dhx37	A	G	5: 125,419,088	S769P	possibly damaging	Het
Diras1	T	A	10: 81,022,415	M1L	probably damaging	Het
Fam161b	A	G	12: 84,357,664	W81R	probably benign	Het
Fat4	A	T	3: 38,957,269	I2173L	probably benign	Het
Fbn2	T	C	18: 58,104,081	T617A	possibly damaging	Het
Gabrq	G	A	X: 72,836,833	D311N	probably benign	Het
Isl2	G	T	9: 55,545,462	G335C	probably damaging	Het
Kbtbd7	T	C	14: 79,428,612	V628A	probably damaging	Het
Kmt2d	T	C	15: 98,837,148	M5378V	unknown	Het
Lrrc23	G	T	6: 124,778,819	D75E	probably benign	Het
Mab21l3	G	A	3: 101,835,130	T38M	probably benign	Het
Matn1	T	C	4: 130,950,011	I177T	possibly damaging	Het
Mtor	T	C	4: 148,453,037	S60P	probably benign	Het
Naip6	T	C	13: 100,304,438	E278G	probably benign	Het
Nsun6	T	C	2: 15,048,978	I7V	possibly damaging	Het
Pabpc6	A	T	17: 9,668,147	S492T	probably benign	Het
Pom121	A	T	5: 135,391,706	V287D	unknown	Het
Ptprq	A	T	10: 107,686,218	F624Y	probably damaging	Het
Ptprr	A	G	10: 116,188,317	T178A	probably benign	Het
Pygm	A	G	19: 6,391,394	N473S	probably benign	Het
Ros1	A	T	10: 52,120,809	Y1256N	probably damaging	Het
Scpep1	T	C	11: 88,941,328	N192S	possibly damaging	Het
Serpina1f	A	G	12: 103,694,006	S6P	possibly damaging	Het
Sgca	T	A	11: 94,972,287	Q80L	probably damaging	Het
Skint6	A	G	4: 112,804,682	L1235P	possibly damaging	Het
Slc23a2	A	C	2: 132,056,816	N600K	probably benign	Het
Spata20	T	C	11: 94,483,395	T350A	probably benign	Het
Syne1	G	T	10: 5,344,921	Y1227*	probably null	Het
Unc13c	T	C	9: 73,933,197	Y124C	probably benign	Het
Usp40	G	A	1: 87,986,123	T416I	probably benign	Het
Vmn1r200	T	C	13: 22,395,401	W116R	probably benign	Het
Vps4a	T	C	8: 107,039,219		probably benign	Het
Zfyve16	A	G	13: 92,492,522	V1469A	probably damaging	Het

Other mutations in Pakap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01371:Pakap	APN	4	57856325	missense	probably benign	0.03
IGL01647:Pakap	APN	4	57688477	missense	possibly damaging	0.82
IGL01733:Pakap	APN	4	57856488	missense	probably benign	0.01
IGL02677:Pakap	APN	4	57856263	missense	probably benign	0.01
IGL02696:Pakap	APN	4	57854663	missense	probably damaging	0.97
IGL03067:Pakap	APN	4	57648038	missense	probably benign	0.02
IGL03343:Pakap	APN	4	57688502	missense	probably damaging	1.00
R1913:Pakap	UTSW	4	57892963	missense	probably damaging	1.00
R2339:Pakap	UTSW	4	57883180	missense	probably damaging	1.00
R5442:Pakap	UTSW	4	57637876	missense	probably null

Posted On

2013-06-21