Incidental Mutation 'R2915:Pcdhb12'
ID 254870
Institutional Source Beutler Lab
Gene Symbol Pcdhb12
Ensembl Gene ENSMUSG00000043458
Gene Name protocadherin beta 12
Synonyms Pcdh3, Pcdhb5F, PcdhbL
MMRRC Submission 040502-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R2915 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 37568674-37571707 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37570693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 613 (N613I)
Ref Sequence ENSEMBL: ENSMUSP00000050357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055495] [ENSMUST00000056915] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91Y07
Predicted Effect probably damaging
Transcript: ENSMUST00000055495
AA Change: N613I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000050357
Gene: ENSMUSG00000043458
AA Change: N613I

DomainStartEndE-ValueType
CA 53 130 1.67e-1 SMART
CA 154 239 3.69e-23 SMART
CA 263 343 6.56e-29 SMART
CA 366 447 5.9e-22 SMART
CA 471 557 4.24e-23 SMART
CA 587 668 1.01e-11 SMART
Pfam:Cadherin_C_2 685 768 4.8e-26 PFAM
low complexity region 778 790 N/A INTRINSIC
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 noncoding transcript
Transcript: ENSMUST00000193015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193629
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
Meta Mutation Damage Score 0.1919 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (50/51)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Arhgap11a A G 2: 113,663,853 (GRCm39) V810A probably damaging Het
B3gnt6 T C 7: 97,842,800 (GRCm39) N387D probably benign Het
Col5a2 C G 1: 45,452,656 (GRCm39) G358R probably damaging Het
Cracr2a A G 6: 127,588,468 (GRCm39) K209R probably damaging Het
Dmkn A G 7: 30,464,741 (GRCm39) N32S unknown Het
Dusp13b T A 14: 21,790,205 (GRCm39) N47I probably damaging Het
Elmo2 A G 2: 165,139,573 (GRCm39) probably benign Het
Ephb6 T C 6: 41,591,172 (GRCm39) F110L probably damaging Het
Gabrb2 T A 11: 42,482,734 (GRCm39) N197K probably benign Het
Gdnf T A 15: 7,845,130 (GRCm39) V41E possibly damaging Het
Gm21915 A G 9: 40,582,083 (GRCm39) I59V possibly damaging Het
Gprin2 C T 14: 33,917,038 (GRCm39) G244D possibly damaging Het
Grin2d T C 7: 45,482,781 (GRCm39) probably benign Het
Ice2 A G 9: 69,318,122 (GRCm39) D241G probably benign Het
Mios C T 6: 8,214,935 (GRCm39) R44C possibly damaging Het
Nlrp5-ps T C 7: 14,320,636 (GRCm39) noncoding transcript Het
Nyap2 C T 1: 81,065,188 (GRCm39) R67* probably null Het
Or4d6 G A 19: 12,085,989 (GRCm39) P81L probably benign Het
Or4f14 G T 2: 111,743,064 (GRCm39) D70E probably damaging Het
Or5m8 T A 2: 85,822,389 (GRCm39) V76E probably damaging Het
Or5t9 T C 2: 86,659,570 (GRCm39) I158T probably benign Het
Or8g19 G T 9: 39,055,762 (GRCm39) R122L possibly damaging Het
Otop2 G A 11: 115,219,972 (GRCm39) A271T probably benign Het
Otulin A G 15: 27,619,716 (GRCm39) probably benign Het
Pax1 A G 2: 147,210,348 (GRCm39) Y361C probably damaging Het
Plekha5 A G 6: 140,534,925 (GRCm39) K173E probably damaging Het
Plin4 T A 17: 56,411,389 (GRCm39) T881S probably damaging Het
Poli A G 18: 70,655,771 (GRCm39) probably null Het
Prex2 T A 1: 11,240,077 (GRCm39) F898I probably damaging Het
Prr14l A T 5: 32,987,112 (GRCm39) H794Q probably benign Het
Prss1 A T 6: 41,439,545 (GRCm39) I93F probably benign Het
Ptpro C T 6: 137,391,239 (GRCm39) probably benign Het
Rad1 T C 15: 10,486,728 (GRCm39) C42R probably damaging Het
Rnf20 A G 4: 49,638,769 (GRCm39) E197G probably benign Het
Setx A G 2: 29,062,336 (GRCm39) E2260G probably damaging Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Six2 A G 17: 85,992,616 (GRCm39) S296P probably damaging Het
Smg1 T A 7: 117,810,102 (GRCm39) probably benign Het
Spred2 T C 11: 19,948,215 (GRCm39) V41A probably damaging Het
Ssu2 A T 6: 112,354,566 (GRCm39) C219* probably null Het
Tbc1d9b T A 11: 50,040,563 (GRCm39) V360D possibly damaging Het
Tdrd9 G A 12: 112,006,895 (GRCm39) D920N probably damaging Het
Tyrp1 A G 4: 80,755,692 (GRCm39) T154A possibly damaging Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Wac A C 18: 7,926,131 (GRCm39) M596L possibly damaging Het
Zfhx2 G T 14: 55,302,014 (GRCm39) P1990Q probably damaging Het
Zfp853 T C 5: 143,275,332 (GRCm39) E96G unknown Het
Zzef1 G A 11: 72,801,152 (GRCm39) probably null Het
Other mutations in Pcdhb12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Pcdhb12 APN 18 37,570,035 (GRCm39) missense probably benign 0.44
IGL01309:Pcdhb12 APN 18 37,569,207 (GRCm39) missense probably damaging 1.00
IGL01834:Pcdhb12 APN 18 37,570,692 (GRCm39) missense probably damaging 1.00
IGL01893:Pcdhb12 APN 18 37,570,263 (GRCm39) missense probably benign 0.01
IGL02617:Pcdhb12 APN 18 37,570,099 (GRCm39) missense probably benign 0.43
R0238:Pcdhb12 UTSW 18 37,569,780 (GRCm39) missense probably benign 0.00
R0238:Pcdhb12 UTSW 18 37,569,780 (GRCm39) missense probably benign 0.00
R0309:Pcdhb12 UTSW 18 37,569,174 (GRCm39) missense probably benign
R0392:Pcdhb12 UTSW 18 37,570,011 (GRCm39) missense possibly damaging 0.60
R0494:Pcdhb12 UTSW 18 37,571,148 (GRCm39) missense probably benign
R0531:Pcdhb12 UTSW 18 37,570,371 (GRCm39) missense probably damaging 1.00
R0571:Pcdhb12 UTSW 18 37,570,261 (GRCm39) missense probably damaging 1.00
R0737:Pcdhb12 UTSW 18 37,570,762 (GRCm39) missense probably damaging 1.00
R0882:Pcdhb12 UTSW 18 37,570,375 (GRCm39) missense probably damaging 1.00
R1253:Pcdhb12 UTSW 18 37,568,874 (GRCm39) missense possibly damaging 0.65
R1300:Pcdhb12 UTSW 18 37,570,450 (GRCm39) missense possibly damaging 0.45
R1334:Pcdhb12 UTSW 18 37,569,724 (GRCm39) missense probably damaging 0.98
R1424:Pcdhb12 UTSW 18 37,571,132 (GRCm39) missense probably benign
R1513:Pcdhb12 UTSW 18 37,570,111 (GRCm39) missense probably damaging 1.00
R1654:Pcdhb12 UTSW 18 37,569,754 (GRCm39) missense probably damaging 1.00
R1717:Pcdhb12 UTSW 18 37,569,841 (GRCm39) missense probably damaging 1.00
R1753:Pcdhb12 UTSW 18 37,569,724 (GRCm39) missense probably damaging 0.98
R1774:Pcdhb12 UTSW 18 37,569,495 (GRCm39) missense possibly damaging 0.52
R1893:Pcdhb12 UTSW 18 37,570,136 (GRCm39) missense probably benign 0.24
R1901:Pcdhb12 UTSW 18 37,570,683 (GRCm39) missense possibly damaging 0.67
R2114:Pcdhb12 UTSW 18 37,569,265 (GRCm39) missense probably damaging 1.00
R2264:Pcdhb12 UTSW 18 37,569,858 (GRCm39) missense probably damaging 0.99
R3689:Pcdhb12 UTSW 18 37,569,127 (GRCm39) missense probably benign 0.01
R3918:Pcdhb12 UTSW 18 37,570,101 (GRCm39) missense probably benign
R4621:Pcdhb12 UTSW 18 37,570,213 (GRCm39) missense probably benign
R4679:Pcdhb12 UTSW 18 37,570,002 (GRCm39) missense probably damaging 1.00
R4709:Pcdhb12 UTSW 18 37,570,548 (GRCm39) missense probably benign 0.08
R4904:Pcdhb12 UTSW 18 37,570,909 (GRCm39) missense possibly damaging 0.80
R4953:Pcdhb12 UTSW 18 37,569,209 (GRCm39) missense probably damaging 1.00
R5091:Pcdhb12 UTSW 18 37,568,907 (GRCm39) nonsense probably null
R5130:Pcdhb12 UTSW 18 37,568,877 (GRCm39) missense probably benign
R5204:Pcdhb12 UTSW 18 37,569,142 (GRCm39) missense probably damaging 0.99
R5361:Pcdhb12 UTSW 18 37,570,099 (GRCm39) missense probably damaging 1.00
R5417:Pcdhb12 UTSW 18 37,569,087 (GRCm39) missense probably benign 0.00
R5979:Pcdhb12 UTSW 18 37,571,044 (GRCm39) missense possibly damaging 0.94
R6117:Pcdhb12 UTSW 18 37,568,695 (GRCm39) intron probably benign
R6258:Pcdhb12 UTSW 18 37,569,892 (GRCm39) missense probably benign 0.00
R6260:Pcdhb12 UTSW 18 37,569,892 (GRCm39) missense probably benign 0.00
R6270:Pcdhb12 UTSW 18 37,569,838 (GRCm39) missense possibly damaging 0.68
R6623:Pcdhb12 UTSW 18 37,570,711 (GRCm39) missense possibly damaging 0.54
R7288:Pcdhb12 UTSW 18 37,569,068 (GRCm39) missense probably benign 0.07
R7733:Pcdhb12 UTSW 18 37,570,089 (GRCm39) missense probably damaging 1.00
R7762:Pcdhb12 UTSW 18 37,568,977 (GRCm39) missense probably damaging 0.98
R8131:Pcdhb12 UTSW 18 37,570,335 (GRCm39) missense possibly damaging 0.91
R8331:Pcdhb12 UTSW 18 37,570,342 (GRCm39) missense probably damaging 1.00
R8483:Pcdhb12 UTSW 18 37,570,590 (GRCm39) missense possibly damaging 0.86
R8553:Pcdhb12 UTSW 18 37,570,687 (GRCm39) missense probably damaging 0.99
R8693:Pcdhb12 UTSW 18 37,570,474 (GRCm39) missense probably benign 0.31
R8821:Pcdhb12 UTSW 18 37,570,386 (GRCm39) missense probably benign 0.07
R8831:Pcdhb12 UTSW 18 37,570,386 (GRCm39) missense probably benign 0.07
R8950:Pcdhb12 UTSW 18 37,570,590 (GRCm39) missense probably benign 0.39
R9037:Pcdhb12 UTSW 18 37,569,229 (GRCm39) missense probably benign 0.00
R9272:Pcdhb12 UTSW 18 37,570,675 (GRCm39) missense probably damaging 1.00
R9782:Pcdhb12 UTSW 18 37,570,393 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- CAATGACAATTCACCTTTCGTGC -3'
(R):5'- CACGTCATAATCGTCCTGCG -3'

Sequencing Primer
(F):5'- TGCTCTACCCGATGCAGAATG -3'
(R):5'- TCCTGCGTGGAATCCCG -3'
Posted On 2014-12-29