Incidental Mutation 'IGL03343:Pakap'
ID417354
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pakap
Ensembl Gene ENSMUSG00000089945
Gene Nameparalemmin A kinase anchor protein
SynonymsPalm2Akap2, AF064781, Palm2-Akap2, Gm20459
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL03343
Quality Score
Status
Chromosome4
Chromosomal Location57568179-57896982 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 57688502 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 115 (T115M)
Ref Sequence ENSEMBL: ENSMUSP00000129817 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098066] [ENSMUST00000102904] [ENSMUST00000102905] [ENSMUST00000126465] [ENSMUST00000142556]
Predicted Effect probably damaging
Transcript: ENSMUST00000098066
AA Change: T115M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095674
Gene: ENSMUSG00000089945
AA Change: T115M

DomainStartEndE-ValueType
Pfam:Paralemmin 67 138 6.3e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102904
AA Change: T115M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099968
Gene: ENSMUSG00000090053
AA Change: T115M

DomainStartEndE-ValueType
Pfam:Paralemmin 66 376 8e-55 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102905
AA Change: T115M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099969
Gene: ENSMUSG00000090053
AA Change: T115M

DomainStartEndE-ValueType
Pfam:Paralemmin 67 376 5.8e-109 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000126465
AA Change: T115M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130230
Gene: ENSMUSG00000089945
AA Change: T115M

DomainStartEndE-ValueType
Pfam:Paralemmin 67 138 6.3e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131201
Predicted Effect probably damaging
Transcript: ENSMUST00000142556
AA Change: T115M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129817
Gene: ENSMUSG00000090053
AA Change: T115M

DomainStartEndE-ValueType
Pfam:Paralemmin 66 136 8.7e-11 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000150412
AA Change: T162M
SMART Domains Protein: ENSMUSP00000117466
Gene: ENSMUSG00000089945
AA Change: T162M

DomainStartEndE-ValueType
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
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik T A 7: 131,246,691 I858N probably damaging Het
Adamts17 A G 7: 67,075,316 H795R probably damaging Het
Adgrl2 A T 3: 148,859,380 I188K probably damaging Het
Adgrv1 A G 13: 81,283,388 Y5974H probably damaging Het
Angpt4 A G 2: 151,936,703 T336A probably damaging Het
Arhgap30 C A 1: 171,409,094 T1012N probably damaging Het
Asl A T 5: 130,012,067 Y178N probably damaging Het
Brd1 C A 15: 88,707,251 L714F possibly damaging Het
Ccdc129 T G 6: 55,968,584 D763E probably damaging Het
Ccdc47 A G 11: 106,204,962 S303P probably damaging Het
Cdk16 A G X: 20,695,759 K264E probably damaging Het
Cenpc1 A T 5: 86,016,322 F813L probably damaging Het
Cfp A C X: 20,928,009 F291C possibly damaging Het
Chordc1 T G 9: 18,312,466 F276V probably damaging Het
Clic4 C T 4: 135,218,578 R176H possibly damaging Het
Dusp27 T C 1: 166,099,448 D865G probably benign Het
Fcer1a T G 1: 173,225,473 N52T possibly damaging Het
Fndc7 A T 3: 108,867,308 C545S probably damaging Het
Frem2 T C 3: 53,652,253 D1611G probably damaging Het
Fryl G A 5: 73,076,695 P1496S probably benign Het
Gga3 A T 11: 115,592,486 N82K probably damaging Het
Gm43638 G A 5: 87,460,625 P452S possibly damaging Het
Gpn1 T C 5: 31,504,965 S244P probably damaging Het
Hspa12a T C 19: 58,799,396 S665G probably benign Het
Htt A G 5: 34,826,041 I995V probably benign Het
Iars A T 13: 49,724,747 I916L probably benign Het
Ice1 C A 13: 70,602,929 L1679F probably damaging Het
Inpp1 A T 1: 52,799,327 D54E probably damaging Het
Irf2bpl T C 12: 86,882,939 E320G possibly damaging Het
Kcnn2 T C 18: 45,676,959 V421A probably damaging Het
Micu2 A G 14: 57,917,311 V419A probably benign Het
Nek9 C T 12: 85,303,609 C897Y probably damaging Het
Ofcc1 A C 13: 40,072,664 H797Q probably benign Het
Olfr1024 T C 2: 85,904,941 T38A probably benign Het
Olfr109 G A 17: 37,466,409 D68N probably damaging Het
Olfr1388 C A 11: 49,444,243 H131N probably damaging Het
Olfr822 T G 10: 130,075,256 L282R probably damaging Het
Papss1 G A 3: 131,583,189 G151S probably benign Het
Plxnb1 A G 9: 109,114,712 T1956A probably damaging Het
Pomt1 A G 2: 32,253,712 probably benign Het
Ppfibp2 T A 7: 107,737,919 Y570* probably null Het
Ppp1r9a A G 6: 5,046,015 E493G probably damaging Het
Ptk2b A G 14: 66,169,421 F621L probably benign Het
Ptpn13 G T 5: 103,554,950 D1261Y possibly damaging Het
Ptprd C T 4: 76,059,729 G181D probably damaging Het
Rabgap1l T C 1: 160,443,283 T645A probably benign Het
Slc2a7 T C 4: 150,168,340 I479T probably damaging Het
Smc3 A G 19: 53,613,842 N40S probably damaging Het
Spata31 A T 13: 64,919,773 D83V probably benign Het
Sptb C T 12: 76,583,556 probably benign Het
Ssc4d A T 5: 135,961,174 C493* probably null Het
Ubr2 C A 17: 46,951,918 V1256L probably benign Het
Ubr3 T C 2: 69,973,146 probably benign Het
Vmn2r105 C T 17: 20,226,369 W456* probably null Het
Vmn2r24 T A 6: 123,816,111 I799N probably damaging Het
Vps13b G A 15: 35,917,170 G3720D possibly damaging Het
Other mutations in Pakap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01123:Pakap APN 4 57757627 nonsense probably null
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
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 On2016-08-02