Incidental Mutation 'R1121:Pcdhb14'
ID 95690
Institutional Source Beutler Lab
Gene Symbol Pcdhb14
Ensembl Gene ENSMUSG00000044043
Gene Name protocadherin beta 14
Synonyms Pcdhb17, 2210006M07Rik, PcdhbN
MMRRC Submission 039194-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R1121 (G1)
Quality Score 209
Status Not validated
Chromosome 18
Chromosomal Location 37580710-37584147 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37582645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 584 (Y584N)
Ref Sequence ENSEMBL: ENSMUSP00000054111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052387] [ENSMUST00000056915] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q6PB90
PDB Structure Solution structure of mouse protocadherin beta 14 (26-137) [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000052387
AA Change: Y584N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000054111
Gene: ENSMUSG00000044043
AA Change: Y584N

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
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 89.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l1 A T 6: 90,566,366 (GRCm39) I646L probably benign Het
Ankar G A 1: 72,690,822 (GRCm39) probably null Het
Ap3b2 T A 7: 81,113,943 (GRCm39) T815S unknown Het
Atosb T C 4: 43,034,947 (GRCm39) K317E probably damaging Het
Cops7a T C 6: 124,939,379 (GRCm39) D90G probably benign Het
Dpysl2 C T 14: 67,100,001 (GRCm39) M78I probably benign Het
Erc2 T C 14: 28,197,612 (GRCm39) probably benign Het
Fam120a A T 13: 49,063,913 (GRCm39) probably null Het
Fam98a C A 17: 75,845,529 (GRCm39) G406C unknown Het
G6pc3 G A 11: 102,080,768 (GRCm39) S6N possibly damaging Het
Grin2d T G 7: 45,503,771 (GRCm39) M655L probably damaging Het
Hnrnpul1 G T 7: 25,440,332 (GRCm39) T308K possibly damaging Het
Ipp T A 4: 116,377,872 (GRCm39) N247K probably benign Het
Islr T C 9: 58,065,045 (GRCm39) N154S probably benign Het
Itk A G 11: 46,222,721 (GRCm39) Y577H possibly damaging Het
Micu1 C T 10: 59,624,804 (GRCm39) T282I possibly damaging Het
Or6d14 T G 6: 116,534,190 (GRCm39) V268G probably damaging Het
Pnlip A G 19: 58,669,340 (GRCm39) probably null Het
Ppip5k2 A T 1: 97,684,585 (GRCm39) Y129N probably damaging Het
Prtg T G 9: 72,813,449 (GRCm39) H936Q probably benign Het
Rem1 G A 2: 152,476,455 (GRCm39) V238M probably damaging Het
Spef1l T A 7: 139,556,543 (GRCm39) D148V probably benign Het
Sptbn5 T A 2: 119,899,871 (GRCm39) probably null Het
Thnsl1 A G 2: 21,216,975 (GRCm39) D243G probably benign Het
Ugt2a3 A T 5: 87,475,548 (GRCm39) D361E probably damaging Het
Uhrf1 T A 17: 56,619,917 (GRCm39) M276K probably benign Het
Vmn1r26 T C 6: 57,985,647 (GRCm39) T181A probably benign Het
Vwa7 T A 17: 35,236,770 (GRCm39) N112K probably damaging Het
Xkr7 C T 2: 152,896,343 (GRCm39) T399I probably damaging Het
Zpld2 T C 4: 133,930,248 (GRCm39) D19G probably benign Het
Other mutations in Pcdhb14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02260:Pcdhb14 APN 18 37,583,086 (GRCm39) missense probably benign 0.28
IGL02314:Pcdhb14 APN 18 37,583,248 (GRCm39) missense probably benign 0.03
IGL02411:Pcdhb14 APN 18 37,582,823 (GRCm39) missense possibly damaging 0.78
IGL02553:Pcdhb14 APN 18 37,581,071 (GRCm39) nonsense probably null
IGL02797:Pcdhb14 APN 18 37,582,904 (GRCm39) missense probably damaging 1.00
IGL03184:Pcdhb14 APN 18 37,582,085 (GRCm39) missense probably benign 0.00
IGL03352:Pcdhb14 APN 18 37,582,057 (GRCm39) missense possibly damaging 0.67
R0166:Pcdhb14 UTSW 18 37,581,542 (GRCm39) splice site probably null
R0467:Pcdhb14 UTSW 18 37,582,277 (GRCm39) missense probably damaging 0.98
R0675:Pcdhb14 UTSW 18 37,581,392 (GRCm39) missense possibly damaging 0.91
R0730:Pcdhb14 UTSW 18 37,581,921 (GRCm39) missense probably damaging 1.00
R1119:Pcdhb14 UTSW 18 37,581,640 (GRCm39) missense probably damaging 0.99
R1338:Pcdhb14 UTSW 18 37,582,943 (GRCm39) missense probably benign 0.00
R1726:Pcdhb14 UTSW 18 37,582,647 (GRCm39) nonsense probably null
R1743:Pcdhb14 UTSW 18 37,581,231 (GRCm39) missense probably benign 0.01
R1779:Pcdhb14 UTSW 18 37,582,535 (GRCm39) missense probably damaging 1.00
R1795:Pcdhb14 UTSW 18 37,582,588 (GRCm39) missense probably benign
R2131:Pcdhb14 UTSW 18 37,580,923 (GRCm39) missense probably benign 0.00
R2133:Pcdhb14 UTSW 18 37,580,923 (GRCm39) missense probably benign 0.00
R3792:Pcdhb14 UTSW 18 37,582,715 (GRCm39) missense probably damaging 1.00
R3916:Pcdhb14 UTSW 18 37,581,598 (GRCm39) missense possibly damaging 0.48
R4197:Pcdhb14 UTSW 18 37,581,358 (GRCm39) missense probably benign 0.01
R4282:Pcdhb14 UTSW 18 37,583,195 (GRCm39) missense probably damaging 1.00
R4657:Pcdhb14 UTSW 18 37,581,900 (GRCm39) missense possibly damaging 0.92
R4801:Pcdhb14 UTSW 18 37,581,331 (GRCm39) missense probably benign 0.28
R4802:Pcdhb14 UTSW 18 37,581,331 (GRCm39) missense probably benign 0.28
R5022:Pcdhb14 UTSW 18 37,583,223 (GRCm39) missense probably benign 0.03
R5034:Pcdhb14 UTSW 18 37,581,859 (GRCm39) missense probably damaging 0.98
R5664:Pcdhb14 UTSW 18 37,582,049 (GRCm39) missense possibly damaging 0.54
R5840:Pcdhb14 UTSW 18 37,581,803 (GRCm39) missense probably benign 0.23
R5966:Pcdhb14 UTSW 18 37,581,295 (GRCm39) missense probably benign
R6090:Pcdhb14 UTSW 18 37,581,659 (GRCm39) missense probably benign 0.45
R6148:Pcdhb14 UTSW 18 37,582,283 (GRCm39) missense probably damaging 1.00
R6187:Pcdhb14 UTSW 18 37,581,497 (GRCm39) missense probably damaging 1.00
R6972:Pcdhb14 UTSW 18 37,582,745 (GRCm39) missense probably damaging 1.00
R7394:Pcdhb14 UTSW 18 37,581,961 (GRCm39) missense probably benign 0.29
R7510:Pcdhb14 UTSW 18 37,582,645 (GRCm39) missense probably damaging 0.97
R7724:Pcdhb14 UTSW 18 37,581,937 (GRCm39) missense possibly damaging 0.62
R7757:Pcdhb14 UTSW 18 37,582,887 (GRCm39) missense possibly damaging 0.95
R8305:Pcdhb14 UTSW 18 37,583,075 (GRCm39) missense possibly damaging 0.48
R8338:Pcdhb14 UTSW 18 37,582,175 (GRCm39) missense probably damaging 1.00
R8497:Pcdhb14 UTSW 18 37,582,349 (GRCm39) missense probably benign 0.02
R8700:Pcdhb14 UTSW 18 37,582,652 (GRCm39) missense probably damaging 1.00
R8792:Pcdhb14 UTSW 18 37,582,541 (GRCm39) missense probably damaging 0.99
R8891:Pcdhb14 UTSW 18 37,582,692 (GRCm39) missense probably damaging 1.00
R8992:Pcdhb14 UTSW 18 37,582,231 (GRCm39) missense probably damaging 1.00
R9043:Pcdhb14 UTSW 18 37,581,851 (GRCm39) missense probably damaging 0.98
R9069:Pcdhb14 UTSW 18 37,583,157 (GRCm39) nonsense probably null
R9127:Pcdhb14 UTSW 18 37,582,091 (GRCm39) missense probably damaging 0.99
R9345:Pcdhb14 UTSW 18 37,581,281 (GRCm39) missense probably damaging 0.98
R9470:Pcdhb14 UTSW 18 37,581,076 (GRCm39) missense probably benign
R9626:Pcdhb14 UTSW 18 37,581,787 (GRCm39) missense probably damaging 1.00
R9758:Pcdhb14 UTSW 18 37,582,040 (GRCm39) missense probably benign 0.08
X0065:Pcdhb14 UTSW 18 37,583,037 (GRCm39) nonsense probably null
X0065:Pcdhb14 UTSW 18 37,582,474 (GRCm39) missense possibly damaging 0.95
Z1177:Pcdhb14 UTSW 18 37,582,907 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCGCTCATCTCCATCAACGCAG -3'
(R):5'- CGACCAGCAATACATGCAGTGTGAC -3'

Sequencing Primer
(F):5'- TCAACGCAGACAATGGGC -3'
(R):5'- ATTGTCCTTGACCAGCAGGAG -3'
Posted On 2014-01-05