Incidental Mutation 'R3936:Pbsn'
ID 307195
Institutional Source Beutler Lab
Gene Symbol Pbsn
Ensembl Gene ENSMUSG00000000003
Gene Name probasin
Synonyms PB
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3936 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 76881504-76897106 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76891702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 32 (T32A)
Ref Sequence ENSEMBL: ENSMUSP00000000003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000003] [ENSMUST00000114041]
AlphaFold O08976
Predicted Effect probably damaging
Transcript: ENSMUST00000000003
AA Change: T32A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000000003
Gene: ENSMUSG00000000003
AA Change: T32A

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Lipocalin 27 166 1.9e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000114041
AA Change: T32A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109675
Gene: ENSMUSG00000000003
AA Change: T32A

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Lipocalin 27 94 4.2e-8 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 C T 12: 53,187,227 (GRCm39) T1547M possibly damaging Het
Alk T A 17: 72,512,949 (GRCm39) I337F probably damaging Het
Ank3 A T 10: 69,715,819 (GRCm39) K491* probably null Het
Arx T A X: 92,340,975 (GRCm39) L554Q probably damaging Het
Axdnd1 T C 1: 156,159,209 (GRCm39) N203S probably benign Het
Baz2b A G 2: 59,743,105 (GRCm39) V1622A possibly damaging Het
Btnl6 T A 17: 34,736,316 (GRCm39) H4L probably benign Het
Dync2h1 C A 9: 7,001,482 (GRCm39) L3835F probably damaging Het
Fcgbp T C 7: 27,774,824 (GRCm39) F133L probably benign Het
Fnip1 A G 11: 54,371,065 (GRCm39) probably null Het
G6pc1 A G 11: 101,265,429 (GRCm39) I154V probably benign Het
Golgb1 G T 16: 36,734,418 (GRCm39) E1222* probably null Het
Gpr85 A G 6: 13,836,044 (GRCm39) F287L probably benign Het
Gzmk A T 13: 113,309,559 (GRCm39) S164T probably damaging Het
Il22ra2 T A 10: 19,507,456 (GRCm39) S156R probably benign Het
Kansl1 A T 11: 104,234,369 (GRCm39) D712E possibly damaging Het
Mc3r T A 2: 172,091,216 (GRCm39) I146N probably damaging Het
Mcm2 G A 6: 88,869,990 (GRCm39) R60C probably damaging Het
Mitf C T 6: 97,970,214 (GRCm39) P54S probably damaging Het
Or13c7b T A 4: 43,821,359 (GRCm39) M1L probably benign Het
P4hb A C 11: 120,453,235 (GRCm39) H440Q probably benign Het
Rptn A C 3: 93,302,883 (GRCm39) H72P possibly damaging Het
Scn1a T C 2: 66,158,120 (GRCm39) I418V probably damaging Het
Sf3a1 T A 11: 4,130,024 (GRCm39) probably null Het
Slc35f1 C T 10: 52,984,314 (GRCm39) T358I probably damaging Het
Slc9c1 A G 16: 45,427,193 (GRCm39) probably benign Het
Sorcs3 T A 19: 48,701,943 (GRCm39) V608D probably damaging Het
Sult2b1 C T 7: 45,391,640 (GRCm39) V49M probably benign Het
Tlr11 A G 14: 50,600,192 (GRCm39) E726G possibly damaging Het
Treh C T 9: 44,595,840 (GRCm39) R342W probably benign Het
Other mutations in Pbsn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Pbsn APN X 76,886,177 (GRCm39) missense probably benign 0.42
IGL02401:Pbsn APN X 76,886,129 (GRCm39) missense probably benign 0.08
IGL03116:Pbsn APN X 76,891,624 (GRCm39) missense probably damaging 1.00
R0569:Pbsn UTSW X 76,897,046 (GRCm39) missense possibly damaging 0.62
R2058:Pbsn UTSW X 76,891,582 (GRCm39) missense probably damaging 1.00
R2059:Pbsn UTSW X 76,891,582 (GRCm39) missense probably damaging 1.00
R3935:Pbsn UTSW X 76,891,702 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGATCCTCACTTAGTGCTGTG -3'
(R):5'- ACCAGACACAGTTGGCTTGG -3'

Sequencing Primer
(F):5'- CACTGATATGAGTGTTGACTGAAAAC -3'
(R):5'- AGGGGTCTAAAATCATGATTGGGTTC -3'
Posted On 2015-04-17