Incidental Mutation 'R5189:Kap'
ID405055
Institutional Source Beutler Lab
Gene Symbol Kap
Ensembl Gene ENSMUSG00000032758
Gene Namekidney androgen regulated protein
Synonymskidney androgen-regulated protein
MMRRC Submission 042767-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #R5189 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location133849851-133853762 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 133851916 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048032] [ENSMUST00000203168]
Predicted Effect probably null
Transcript: ENSMUST00000048032
SMART Domains Protein: ENSMUSP00000041060
Gene: ENSMUSG00000032758

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:KAR 19 121 2.6e-63 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000203168
SMART Domains Protein: ENSMUSP00000145449
Gene: ENSMUSG00000032758

DomainStartEndE-ValueType
Pfam:KAR 14 104 7.4e-45 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,164,546 E685* probably null Het
2700049A03Rik A T 12: 71,164,547 E685V possibly damaging Het
2700049A03Rik C T 12: 71,193,349 T1311I possibly damaging Het
4930505A04Rik T C 11: 30,426,169 T233A probably damaging Het
Ankar T C 1: 72,658,414 I859V probably benign Het
Cacnb2 G T 2: 14,986,038 A644S possibly damaging Het
Gatb T C 3: 85,636,931 V402A probably benign Het
Gpcpd1 T C 2: 132,553,972 K153R probably damaging Het
Hip1 A G 5: 135,434,293 L60S probably damaging Het
Hsf4 GCAGCACCGGGTCA G 8: 105,271,428 probably null Het
Hydin A T 8: 110,413,211 probably null Het
Igsf3 A T 3: 101,431,527 T386S possibly damaging Het
Il12rb1 A G 8: 70,811,058 T88A possibly damaging Het
Kank1 T C 19: 25,424,181 S1051P probably damaging Het
Ly96 A G 1: 16,700,867 E74G probably damaging Het
Map7d1 G T 4: 126,242,304 probably null Het
Megf6 G T 4: 154,252,523 R253L probably benign Het
Mex3b A G 7: 82,869,251 D258G probably damaging Het
Mpzl3 T C 9: 45,062,110 I49T possibly damaging Het
Myh15 C A 16: 49,101,507 T472N probably benign Het
Nacad A G 11: 6,601,611 S527P probably damaging Het
Nkx2-3 T G 19: 43,612,708 S70A probably benign Het
Nkx2-6 A T 14: 69,171,893 Q31L probably benign Het
Olfr522 A G 7: 140,162,719 V77A probably damaging Het
Pcdha6 A T 18: 36,968,791 N346Y probably damaging Het
Pkd2 G A 5: 104,459,919 D95N probably benign Het
Pkhd1l1 A G 15: 44,547,148 T2684A probably damaging Het
Plin2 A G 4: 86,657,146 Y389H probably damaging Het
Rufy4 T C 1: 74,147,663 C537R probably damaging Het
Slc41a2 T C 10: 83,313,411 probably null Het
Smg6 A G 11: 75,041,996 T1038A probably damaging Het
Suds3 T C 5: 117,100,599 probably benign Het
Tbc1d8 T C 1: 39,385,132 H626R probably benign Het
Tmem260 T A 14: 48,509,116 H616Q probably benign Het
Trip10 A T 17: 57,261,288 probably null Het
Ttn A T 2: 76,811,243 L5176Q possibly damaging Het
Ubr4 A G 4: 139,410,649 T1106A probably benign Het
Vmn1r84 A T 7: 12,362,458 S103T probably benign Het
Vps13a G T 19: 16,685,315 P1602Q probably damaging Het
Other mutations in Kap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02828:Kap APN 6 133852094 missense probably benign 0.01
IGL03242:Kap APN 6 133851800 splice site probably benign
R2852:Kap UTSW 6 133850094 missense probably benign 0.00
R5714:Kap UTSW 6 133851993 missense probably benign 0.09
R6383:Kap UTSW 6 133851957 missense probably benign 0.00
R7664:Kap UTSW 6 133851957 missense probably benign 0.00
R7721:Kap UTSW 6 133851727 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TTCTTCCAGAAAGCCGGAGG -3'
(R):5'- GTAGACTCAACAAAATCTCTTCCAG -3'

Sequencing Primer
(F):5'- GAGACTGTCTCAACATCAGTAGAG -3'
(R):5'- TAACCTAATAGACCCTCCCAGTG -3'
Posted On2016-07-22