Incidental Mutation 'R2133:Pcdhb14'
ID 233604
Institutional Source Beutler Lab
Gene Symbol Pcdhb14
Ensembl Gene ENSMUSG00000044043
Gene Name protocadherin beta 14
Synonyms Pcdhb17, 2210006M07Rik, PcdhbN
MMRRC Submission 040136-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R2133 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 37580710-37584147 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 37580923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 10 (Q10K)
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 benign
Transcript: ENSMUST00000052387
AA Change: Q10K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000054111
Gene: ENSMUSG00000044043
AA Change: Q10K

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: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 121 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik A G 17: 48,400,972 (GRCm39) K86E possibly damaging Het
Abcb11 A T 2: 69,154,227 (GRCm39) V113E possibly damaging Het
Acacb TGGGG TGGG 5: 114,347,828 (GRCm39) probably null Het
Adgrb1 T A 15: 74,401,757 (GRCm39) L251Q probably damaging Het
Akap13 G T 7: 75,261,182 (GRCm39) A1269S probably benign Het
Aox3 A G 1: 58,209,002 (GRCm39) H845R probably damaging Het
Apc C A 18: 34,445,098 (GRCm39) Q665K possibly damaging Het
Atp13a2 T A 4: 140,732,327 (GRCm39) M864K probably damaging Het
Atp6v1c2 T C 12: 17,371,612 (GRCm39) T62A probably benign Het
Atp7b T C 8: 22,501,093 (GRCm39) T937A probably damaging Het
BC034090 C T 1: 155,101,532 (GRCm39) G244D probably benign Het
C2 G A 17: 35,098,878 (GRCm39) T146M probably damaging Het
Cacna1h A G 17: 25,602,502 (GRCm39) F1403L probably damaging Het
Camk2b T C 11: 5,927,880 (GRCm39) E390G probably benign Het
Cars1 C A 7: 143,146,211 (GRCm39) R71M probably damaging Het
Castor2 G A 5: 134,164,992 (GRCm39) C187Y probably damaging Het
Ccdc141 G A 2: 76,889,951 (GRCm39) T447I probably benign Het
Cep164 T C 9: 45,714,481 (GRCm39) E182G probably damaging Het
Clstn3 T C 6: 124,426,462 (GRCm39) T575A probably benign Het
Cntnap2 T C 6: 47,275,379 (GRCm39) L1277P probably damaging Het
Cyp4a14 A T 4: 115,348,588 (GRCm39) S325R probably damaging Het
Dbt T A 3: 116,332,773 (GRCm39) D16E probably damaging Het
Ddx10 T A 9: 53,060,812 (GRCm39) R768S probably benign Het
Dis3 A T 14: 99,317,313 (GRCm39) N710K probably benign Het
Dmrta1 A T 4: 89,576,946 (GRCm39) Q134L probably damaging Het
Eif3i A T 4: 129,490,719 (GRCm39) H18Q probably benign Het
Emx2 A G 19: 59,452,465 (GRCm39) T250A probably damaging Het
Epb41l4a T C 18: 34,007,248 (GRCm39) T248A probably damaging Het
Epm2a A G 10: 11,219,426 (GRCm39) E71G probably benign Het
Eps15l1 A T 8: 73,140,712 (GRCm39) V260D probably benign Het
Etv4 A G 11: 101,666,243 (GRCm39) I95T probably damaging Het
Etv6 T C 6: 134,225,717 (GRCm39) V316A possibly damaging Het
Exoc4 T C 6: 33,735,093 (GRCm39) V570A probably benign Het
Exoc4 T C 6: 33,887,473 (GRCm39) S754P probably benign Het
Faf1 A G 4: 109,568,042 (GRCm39) N34S probably damaging Het
Fam217a T C 13: 35,097,663 (GRCm39) H208R probably damaging Het
Fgf17 T C 14: 70,875,927 (GRCm39) R102G probably damaging Het
Fhad1 G A 4: 141,655,711 (GRCm39) R798C probably damaging Het
Fkbp15 C A 4: 62,246,136 (GRCm39) G431W probably damaging Het
Gemin4 G C 11: 76,101,876 (GRCm39) P962A probably damaging Het
Gm1587 A T 14: 78,032,296 (GRCm39) C113* probably null Het
Gm28040 AGTG AGTGGCACCTTTGGTG 1: 133,255,059 (GRCm39) probably benign Het
Golim4 A T 3: 75,815,456 (GRCm39) V116D probably damaging Het
Gpr132 A G 12: 112,816,023 (GRCm39) S268P probably damaging Het
Gtpbp2 T C 17: 46,472,128 (GRCm39) M21T probably benign Het
Guca2b T C 4: 119,514,828 (GRCm39) R78G probably benign Het
Helz T A 11: 107,561,310 (GRCm39) N775K unknown Het
Ift20 G A 11: 78,430,860 (GRCm39) E68K probably damaging Het
Insrr G A 3: 87,717,879 (GRCm39) probably null Het
Ipo9 A G 1: 135,329,988 (GRCm39) V484A probably benign Het
Ipo9 ATCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTCCTC 1: 135,314,006 (GRCm39) probably benign Het
Ipo9 TCC TCCACC 1: 135,314,013 (GRCm39) probably benign Het
Irak3 A G 10: 120,001,082 (GRCm39) I281T probably benign Het
Kcnh8 T C 17: 53,200,961 (GRCm39) V465A probably damaging Het
Khsrp A T 17: 57,334,832 (GRCm39) I138N probably benign Het
Larp1b T C 3: 40,924,970 (GRCm39) M149T possibly damaging Het
Ldhc A T 7: 46,519,023 (GRCm39) D82V probably damaging Het
Lgmn T C 12: 102,361,167 (GRCm39) Y400C probably damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lmtk2 C T 5: 144,111,806 (GRCm39) T842I possibly damaging Het
Lpo T A 11: 87,711,956 (GRCm39) I34F probably benign Het
Magel2 A T 7: 62,027,486 (GRCm39) H130L unknown Het
Mamld1 C A X: 70,162,998 (GRCm39) Q670K probably benign Het
Mcrs1 A T 15: 99,141,256 (GRCm39) D402E probably damaging Het
Mki67 T A 7: 135,305,970 (GRCm39) probably null Het
Morc2a T A 11: 3,630,302 (GRCm39) C499* probably null Het
Mpp2 G A 11: 101,955,421 (GRCm39) R110C probably benign Het
Msra T A 14: 64,471,377 (GRCm39) T47S probably damaging Het
Nrp1 A T 8: 129,224,997 (GRCm39) E782D probably damaging Het
Ogdhl T C 14: 32,047,891 (GRCm39) V47A probably benign Het
Olfml3 T A 3: 103,643,185 (GRCm39) M399L probably benign Het
Optc A T 1: 133,831,534 (GRCm39) probably null Het
Or1j13 A G 2: 36,370,059 (GRCm39) S28P possibly damaging Het
Or2f1 C A 6: 42,721,069 (GRCm39) L33M possibly damaging Het
Or4a72 G A 2: 89,405,600 (GRCm39) Q157* probably null Het
Osbpl6 T A 2: 76,416,558 (GRCm39) I546K probably damaging Het
Pard6g T C 18: 80,160,523 (GRCm39) V212A probably damaging Het
Pkhd1l1 T C 15: 44,379,581 (GRCm39) I1069T possibly damaging Het
Plcb1 T A 2: 135,167,587 (GRCm39) Y460* probably null Het
Plekha6 C A 1: 133,207,103 (GRCm39) probably null Het
Prelp C T 1: 133,842,869 (GRCm39) R92K probably benign Het
Ptprg T A 14: 12,211,637 (GRCm38) I198N probably damaging Het
Rbm12 A T 2: 155,937,430 (GRCm39) C947* probably null Het
Rc3h2 A T 2: 37,268,928 (GRCm39) I846K probably benign Het
Ren1 C A 1: 133,286,720 (GRCm39) probably null Het
Rfwd3 A T 8: 112,024,034 (GRCm39) V96E probably benign Het
Rnf157 A G 11: 116,249,520 (GRCm39) V232A possibly damaging Het
Ro60 T C 1: 143,635,772 (GRCm39) D458G probably benign Het
Ror1 A G 4: 100,267,222 (GRCm39) N308D probably benign Het
Rrp1 T C 10: 78,237,728 (GRCm39) probably benign Het
Rsph6a T A 7: 18,802,031 (GRCm39) V360E probably damaging Het
Senp1 T A 15: 97,973,848 (GRCm39) T132S probably benign Het
Septin4 A T 11: 87,474,262 (GRCm39) Q60L probably benign Het
Slc41a3 C T 6: 90,603,363 (GRCm39) A128V probably damaging Het
Slc7a9 T C 7: 35,152,918 (GRCm39) F112S probably damaging Het
Slc9a4 T G 1: 40,646,901 (GRCm39) probably null Het
Sort1 T A 3: 108,259,002 (GRCm39) F678Y probably benign Het
Spidr G A 16: 15,871,137 (GRCm39) L278F probably benign Het
Stard13 T C 5: 150,968,633 (GRCm39) Y879C probably damaging Het
Synpo T C 18: 60,735,967 (GRCm39) N421D probably damaging Het
Syt17 C T 7: 117,981,270 (GRCm39) G351S possibly damaging Het
Tacc1 A T 8: 25,654,509 (GRCm39) N271K probably damaging Het
Tasor A G 14: 27,198,571 (GRCm39) N1301S possibly damaging Het
Tdrd6 T C 17: 43,935,724 (GRCm39) T1775A probably benign Het
Tecpr1 T A 5: 144,145,463 (GRCm39) T595S probably benign Het
Tjp3 T A 10: 81,113,888 (GRCm39) M457L possibly damaging Het
Tmem132a C A 19: 10,841,430 (GRCm39) R298L probably benign Het
Trabd2b A T 4: 114,467,205 (GRCm39) Q478L probably benign Het
Trappc12 A T 12: 28,796,597 (GRCm39) S312T probably benign Het
Ttc9b T A 7: 27,353,774 (GRCm39) probably null Het
Ttn G A 2: 76,680,956 (GRCm39) Q1044* probably null Het
Ugt2b34 C T 5: 87,054,416 (GRCm39) D122N probably benign Het
Vps35l T C 7: 118,393,798 (GRCm39) Y516H probably damaging Het
Zc3h6 A G 2: 128,809,750 (GRCm39) H9R possibly damaging Het
Zdhhc13 T A 7: 48,474,392 (GRCm39) L548Q possibly damaging Het
Zfp236 T C 18: 82,639,429 (GRCm39) M1225V probably benign Het
Zfp280d T C 9: 72,215,287 (GRCm39) F133L probably damaging Het
Zfp521 G A 18: 13,977,762 (GRCm39) P884S possibly damaging Het
Zfp64 A G 2: 168,782,663 (GRCm39) Y146H probably damaging Het
Zfyve26 T A 12: 79,315,208 (GRCm39) I1423F possibly damaging Het
Zswim6 T A 13: 107,880,522 (GRCm39) noncoding transcript 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
R1121:Pcdhb14 UTSW 18 37,582,645 (GRCm39) missense probably damaging 1.00
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
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'- CAGAGCCATTTCTTGCTGC -3'
(R):5'- TTGGAAAGAATCTGGGCGCC -3'

Sequencing Primer
(F):5'- CTGCTGAGAAGGGAAGCTTTTCAC -3'
(R):5'- GCGCCCCTGGTAATCAACTC -3'
Posted On 2014-10-01