Incidental Mutation 'IGL02553:Pcdhb14'
ID298579
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdhb14
Ensembl Gene ENSMUSG00000044043
Gene Nameprotocadherin beta 14
SynonymsPcdhbN, 2210006M07Rik, Pcdhb17
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.131) question?
Stock #IGL02553
Quality Score
Status
Chromosome18
Chromosomal Location37447656-37456350 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 37448018 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Stop codon at position 59 (L59*)
Ref Sequence ENSEMBL: ENSMUSP00000054111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052387] [ENSMUST00000056915] [ENSMUST00000115661] [ENSMUST00000194544]
PDB Structure
Solution structure of mouse protocadherin beta 14 (26-137) [SOLUTION NMR]
Predicted Effect probably null
Transcript: ENSMUST00000052387
AA Change: L59*
SMART Domains Protein: ENSMUSP00000054111
Gene: ENSMUSG00000044043
AA Change: L59*

DomainStartEndE-ValueType
Pfam:Cadherin_2 30 112 1.4e-35 PFAM
CA 155 240 1.53e-20 SMART
CA 264 345 3.52e-29 SMART
CA 368 449 2.24e-22 SMART
CA 473 559 2.38e-26 SMART
CA 589 670 4.12e-12 SMART
Pfam:Cadherin_C_2 685 768 4.9e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000056915
SMART Domains Protein: ENSMUSP00000061087
Gene: ENSMUSG00000047307

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CA 58 130 5.5e-1 SMART
CA 154 239 8.55e-19 SMART
CA 263 343 3.36e-26 SMART
CA 366 447 2.24e-22 SMART
CA 471 557 1.08e-24 SMART
CA 587 668 1.25e-11 SMART
Pfam:Cadherin_C_2 685 768 2.4e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115661
SMART Domains Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458

DomainStartEndE-ValueType
CA 20 131 5.3e-2 SMART
CA 155 240 1.51e-19 SMART
CA 264 348 7.6e-25 SMART
CA 372 453 1.42e-24 SMART
CA 477 563 1.42e-24 SMART
CA 594 674 4.12e-12 SMART
low complexity region 706 721 N/A INTRINSIC
Pfam:Cadherin_tail 796 930 3.9e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193984
Predicted Effect probably benign
Transcript: ENSMUST00000194544
SMART Domains Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

DomainStartEndE-ValueType
Blast:CA 18 66 5e-20 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,351,924 S1326P probably damaging Het
Alpk1 A T 3: 127,673,321 L1103Q probably damaging Het
Arhgap11a A C 2: 113,837,561 probably benign Het
Arl6ip6 A G 2: 53,192,214 Y31C possibly damaging Het
Arpin G T 7: 79,927,647 D217E possibly damaging Het
Atp13a4 C T 16: 29,422,703 V735I probably benign Het
Ccdc146 A T 5: 21,297,633 F753L probably benign Het
Cdh3 T A 8: 106,544,248 L511* probably null Het
Chrna1 A T 2: 73,566,862 I361N possibly damaging Het
Clk2 G A 3: 89,175,713 R432H probably damaging Het
Col9a1 T C 1: 24,221,937 probably benign Het
Cstf1 G T 2: 172,377,854 R295L probably benign Het
Dsg2 A G 18: 20,592,410 D526G probably damaging Het
Dsg4 T A 18: 20,462,520 H593Q probably benign Het
Dysf T C 6: 84,130,127 Y1171H possibly damaging Het
Erbb4 A G 1: 68,305,864 L566P probably benign Het
Fam185a T A 5: 21,455,831 D281E probably damaging Het
Fam185a T A 5: 21,429,841 Het
Fam91a1 T A 15: 58,432,982 probably null Het
Fat2 A G 11: 55,311,283 W322R probably damaging Het
Fbxw8 T A 5: 118,066,060 probably benign Het
Ganc A G 2: 120,458,134 T874A probably benign Het
Gm3543 T C 14: 41,980,091 I145M probably benign Het
Gtf2i G A 5: 134,245,161 T712I probably damaging Het
Hk1 A G 10: 62,295,773 S268P possibly damaging Het
Hmcn1 A G 1: 150,993,023 V10A probably benign Het
Hsd17b4 C T 18: 50,162,097 probably benign Het
Ighv1-75 A T 12: 115,834,105 W66R probably damaging Het
Kif21b G T 1: 136,154,121 D636Y probably damaging Het
Kif5b A T 18: 6,220,914 I398N probably benign Het
Metap2 T C 10: 93,865,449 M165V probably damaging Het
Mterf2 A C 10: 85,120,467 L98V probably damaging Het
Muc16 A G 9: 18,498,553 probably null Het
Myo3b A G 2: 70,095,224 M12V probably benign Het
Nat10 C A 2: 103,752,668 R136I probably damaging Het
Nsd2 T G 5: 33,846,198 S231A probably damaging Het
Olfr1243 T C 2: 89,527,931 T160A probably benign Het
Olfr1281 A T 2: 111,328,988 M190L probably benign Het
Pias4 A G 10: 81,163,787 L144P probably damaging Het
Plxna2 T A 1: 194,751,438 N598K probably benign Het
Polq A G 16: 37,041,768 Y550C probably damaging Het
Pot1b T A 17: 55,695,024 probably benign Het
Proz T C 8: 13,065,260 V92A probably benign Het
Rab4a T C 8: 123,823,822 F14L probably benign Het
Riok3 T A 18: 12,143,016 C256* probably null Het
Slc6a1 T A 6: 114,302,490 Het
Socs5 C T 17: 87,134,991 T453M probably damaging Het
Spata3 T C 1: 86,024,489 L135P probably damaging Het
Spata46 A G 1: 170,311,965 K178E probably damaging Het
Spr T C 6: 85,137,448 N100D probably damaging Het
Srrm4 C T 5: 116,444,565 probably benign Het
Stard3 T C 11: 98,376,563 F169S possibly damaging Het
Tbx1 T A 16: 18,584,097 D222V probably damaging Het
Trbv23 C T 6: 41,216,345 Q56* probably null Het
Tsc22d1 A G 14: 76,417,398 N357S possibly damaging Het
Ugt1a6a C T 1: 88,139,089 P206S probably benign Het
Utp20 A G 10: 88,764,795 V19A probably damaging Het
Vps13b A G 15: 35,646,301 N1517S probably benign Het
Washc2 T C 6: 116,241,610 I672T probably damaging Het
Other mutations in Pcdhb14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02260:Pcdhb14 APN 18 37450033 missense probably benign 0.28
IGL02314:Pcdhb14 APN 18 37450195 missense probably benign 0.03
IGL02411:Pcdhb14 APN 18 37449770 missense possibly damaging 0.78
IGL02797:Pcdhb14 APN 18 37449851 missense probably damaging 1.00
IGL03184:Pcdhb14 APN 18 37449032 missense probably benign 0.00
IGL03352:Pcdhb14 APN 18 37449004 missense possibly damaging 0.67
R0166:Pcdhb14 UTSW 18 37448489 unclassified probably null
R0467:Pcdhb14 UTSW 18 37449224 missense probably damaging 0.98
R0675:Pcdhb14 UTSW 18 37448339 missense possibly damaging 0.91
R0730:Pcdhb14 UTSW 18 37448868 missense probably damaging 1.00
R1119:Pcdhb14 UTSW 18 37448587 missense probably damaging 0.99
R1121:Pcdhb14 UTSW 18 37449592 missense probably damaging 1.00
R1338:Pcdhb14 UTSW 18 37449890 missense probably benign 0.00
R1726:Pcdhb14 UTSW 18 37449594 nonsense probably null
R1743:Pcdhb14 UTSW 18 37448178 missense probably benign 0.01
R1779:Pcdhb14 UTSW 18 37449482 missense probably damaging 1.00
R1795:Pcdhb14 UTSW 18 37449535 missense probably benign
R2131:Pcdhb14 UTSW 18 37447870 missense probably benign 0.00
R2133:Pcdhb14 UTSW 18 37447870 missense probably benign 0.00
R3792:Pcdhb14 UTSW 18 37449662 missense probably damaging 1.00
R3916:Pcdhb14 UTSW 18 37448545 missense possibly damaging 0.48
R4197:Pcdhb14 UTSW 18 37448305 missense probably benign 0.01
R4282:Pcdhb14 UTSW 18 37450142 missense probably damaging 1.00
R4657:Pcdhb14 UTSW 18 37448847 missense possibly damaging 0.92
R4801:Pcdhb14 UTSW 18 37448278 missense probably benign 0.28
R4802:Pcdhb14 UTSW 18 37448278 missense probably benign 0.28
R5022:Pcdhb14 UTSW 18 37450170 missense probably benign 0.03
R5034:Pcdhb14 UTSW 18 37448806 missense probably damaging 0.98
R5664:Pcdhb14 UTSW 18 37448996 missense possibly damaging 0.54
R5840:Pcdhb14 UTSW 18 37448750 missense probably benign 0.23
R5966:Pcdhb14 UTSW 18 37448242 missense probably benign
R6090:Pcdhb14 UTSW 18 37448606 missense probably benign 0.45
R6148:Pcdhb14 UTSW 18 37449230 missense probably damaging 1.00
R6187:Pcdhb14 UTSW 18 37448444 missense probably damaging 1.00
R6972:Pcdhb14 UTSW 18 37449692 missense probably damaging 1.00
X0065:Pcdhb14 UTSW 18 37449421 missense possibly damaging 0.95
X0065:Pcdhb14 UTSW 18 37449984 nonsense probably null
Posted On2015-04-16