Incidental Mutation 'R1263:Gkap1'
ID 151676
Institutional Source Beutler Lab
Gene Symbol Gkap1
Ensembl Gene ENSMUSG00000021552
Gene Name G kinase anchoring protein 1
Synonyms 4933400B15Rik, 42kDa, D13Ertd340e, Gkap42
MMRRC Submission 039330-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1263 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 58381160-58422691 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58403587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 179 (V179E)
Ref Sequence ENSEMBL: ENSMUSP00000089169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091579]
AlphaFold Q9JMB0
Predicted Effect probably benign
Transcript: ENSMUST00000091579
AA Change: V179E

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000089169
Gene: ENSMUSG00000021552
AA Change: V179E

DomainStartEndE-ValueType
coiled coil region 47 80 N/A INTRINSIC
coiled coil region 128 157 N/A INTRINSIC
coiled coil region 243 299 N/A INTRINSIC
coiled coil region 321 352 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224114
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224273
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is highly similar to the mouse cGMP-dependent protein kinase anchoring protein 42kDa. The mouse protein has been found to localize with the Golgi and recruit cGMP-dependent protein kinase I alpha to the Golgi in mouse testes. It is thought to play a role in germ cell development. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A C 11: 109,832,433 (GRCm39) H1231Q possibly damaging Het
Acbd4 T A 11: 102,994,677 (GRCm39) probably null Het
Atp13a4 T A 16: 29,290,771 (GRCm39) Y226F possibly damaging Het
Brd3 A C 2: 27,352,534 (GRCm39) F132C probably damaging Het
Btaf1 A T 19: 36,933,924 (GRCm39) N184I probably benign Het
Ccdc180 A G 4: 45,903,887 (GRCm39) E351G possibly damaging Het
Ccdc185 A T 1: 182,574,918 (GRCm39) Y590* probably null Het
Chi3l1 G A 1: 134,116,980 (GRCm39) E315K probably benign Het
Col6a6 T A 9: 105,586,688 (GRCm39) M1778L probably benign Het
Cyp3a59 A C 5: 146,041,521 (GRCm39) Y355S probably damaging Het
Cyp4a31 A G 4: 115,431,908 (GRCm39) T396A probably benign Het
Dnaaf6rt A T 1: 31,262,296 (GRCm39) I93F probably damaging Het
Dnah6 A T 6: 73,121,948 (GRCm39) I1373N probably damaging Het
Dop1b C A 16: 93,574,274 (GRCm39) H1598N probably benign Het
Erich4 T A 7: 25,314,559 (GRCm39) K118M probably damaging Het
Gpr107 T G 2: 31,068,267 (GRCm39) I243S possibly damaging Het
Hs3st6 A G 17: 24,977,504 (GRCm39) N328S probably damaging Het
Kcnq5 A T 1: 21,549,602 (GRCm39) I375N probably damaging Het
Klhdc3 A T 17: 46,987,892 (GRCm39) H266Q probably benign Het
Krt71 C T 15: 101,643,901 (GRCm39) G446R probably damaging Het
L3mbtl2 A G 15: 81,567,169 (GRCm39) T423A probably benign Het
Mical3 T C 6: 120,929,430 (GRCm39) E1812G probably damaging Het
Nlrp1a A G 11: 70,987,948 (GRCm39) I1174T probably benign Het
Npas2 C A 1: 39,373,849 (GRCm39) Q450K possibly damaging Het
Nrp1 T A 8: 129,194,870 (GRCm39) I442N probably damaging Het
Or1j10 T A 2: 36,267,006 (GRCm39) S73T probably damaging Het
Or2y1 A T 11: 49,385,848 (GRCm39) M163L probably benign Het
Palld TGCGTAGCG TGCG 8: 61,966,491 (GRCm39) probably null Het
Pold3 T A 7: 99,768,890 (GRCm39) Q36L possibly damaging Het
Polg T C 7: 79,109,534 (GRCm39) T428A probably benign Het
Rfx7 T A 9: 72,484,329 (GRCm39) V57E possibly damaging Het
Rnf122 T G 8: 31,602,177 (GRCm39) M1R probably null Het
Sanbr A T 11: 23,570,278 (GRCm39) Y207* probably null Het
Scn10a T A 9: 119,446,799 (GRCm39) T1410S probably damaging Het
Serpinb13 T A 1: 106,928,466 (GRCm39) V362E probably damaging Het
Setdb1 T C 3: 95,234,922 (GRCm39) N927S probably damaging Het
Sft2d1 A G 17: 8,539,470 (GRCm39) K91R probably benign Het
Shprh A G 10: 11,035,274 (GRCm39) H327R probably damaging Het
Slc9b2 C A 3: 135,042,156 (GRCm39) H478Q probably benign Het
Styxl1 G T 5: 135,782,737 (GRCm39) S117R probably damaging Het
Synj2 T C 17: 6,069,634 (GRCm39) F150L probably damaging Het
Tep1 C A 14: 51,082,970 (GRCm39) V1013L possibly damaging Het
Tgfbi T A 13: 56,778,468 (GRCm39) L413Q probably damaging Het
Tmc5 G A 7: 118,266,093 (GRCm39) R789Q probably damaging Het
Tonsl T A 15: 76,506,762 (GRCm39) I115F possibly damaging Het
Trim38 A G 13: 23,975,117 (GRCm39) Y352C probably damaging Het
Txnl4a T A 18: 80,250,536 (GRCm39) V44D probably benign Het
Vars2 A G 17: 35,972,501 (GRCm39) V39A probably damaging Het
Vmn2r105 A G 17: 20,428,584 (GRCm39) C831R probably damaging Het
Vmn2r26 T A 6: 124,027,667 (GRCm39) I469N probably benign Het
Vmn2r53 T C 7: 12,315,533 (GRCm39) Y762C probably benign Het
Vps13d T A 4: 144,896,918 (GRCm39) Q334L probably benign Het
Zfp277 A T 12: 40,414,164 (GRCm39) I227N probably damaging Het
Other mutations in Gkap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01318:Gkap1 APN 13 58,384,853 (GRCm39) missense probably damaging 1.00
IGL01556:Gkap1 APN 13 58,411,106 (GRCm39) missense probably benign 0.10
IGL03134:Gkap1 APN 13 58,411,746 (GRCm39) unclassified probably benign
R1750:Gkap1 UTSW 13 58,384,857 (GRCm39) nonsense probably null
R4672:Gkap1 UTSW 13 58,411,770 (GRCm39) missense possibly damaging 0.70
R5165:Gkap1 UTSW 13 58,411,010 (GRCm39) critical splice donor site probably null
R7639:Gkap1 UTSW 13 58,411,784 (GRCm39) missense probably damaging 0.99
R7721:Gkap1 UTSW 13 58,384,799 (GRCm39) critical splice donor site probably null
R7775:Gkap1 UTSW 13 58,398,966 (GRCm39) missense probably benign 0.09
R8519:Gkap1 UTSW 13 58,386,506 (GRCm39) missense probably damaging 1.00
R8672:Gkap1 UTSW 13 58,391,662 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TTGGAAACTCTCTGCCATTAGTTAGCC -3'
(R):5'- TGCCTGTGCTGTCAGAATCATTGAAG -3'

Sequencing Primer
(F):5'- ATTAGTTAGCCTACCGCAGC -3'
(R):5'- GCTGTCAGAATCATTGAAGAGTTG -3'
Posted On 2014-01-29