Incidental Mutation 'R4621:Pcdhb12'
ID 346192
Institutional Source Beutler Lab
Gene Symbol Pcdhb12
Ensembl Gene ENSMUSG00000043458
Gene Name protocadherin beta 12
Synonyms Pcdh3, Pcdhb5F, PcdhbL
MMRRC Submission 041886-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R4621 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 37568674-37571707 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37570213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 453 (Q453R)
Ref Sequence ENSEMBL: ENSMUSP00000050357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055495] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91Y07
Predicted Effect probably benign
Transcript: ENSMUST00000055495
AA Change: Q453R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000050357
Gene: ENSMUSG00000043458
AA Change: Q453R

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: 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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (90/90)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd2 T C 7: 78,975,235 (GRCm39) Y142H probably damaging Het
Abra C T 15: 41,732,620 (GRCm39) D149N probably benign Het
Acin1 A T 14: 54,890,900 (GRCm39) probably benign Het
Adap2 T A 11: 80,064,899 (GRCm39) probably null Het
Afdn A G 17: 14,109,082 (GRCm39) E1535G probably damaging Het
Ajm1 G A 2: 25,468,412 (GRCm39) P500S probably damaging Het
Ak9 A G 10: 41,282,887 (GRCm39) N1218D possibly damaging Het
Angptl1 G A 1: 156,672,494 (GRCm39) V107M probably damaging Het
Arhgap26 G A 18: 39,032,894 (GRCm39) probably benign Het
Cage1 A C 13: 38,209,477 (GRCm39) S61A possibly damaging Het
Cdadc1 T C 14: 59,824,004 (GRCm39) T163A probably benign Het
Celsr2 A T 3: 108,302,532 (GRCm39) V2568D possibly damaging Het
Cep44 G A 8: 56,995,951 (GRCm39) T166M probably damaging Het
Cnksr3 T C 10: 7,076,182 (GRCm39) K187E possibly damaging Het
Cyp20a1 A G 1: 60,415,258 (GRCm39) T295A probably benign Het
Dus2 T A 8: 106,757,074 (GRCm39) M88K probably damaging Het
E330034G19Rik A T 14: 24,346,070 (GRCm39) probably benign Het
Ecrg4 G A 1: 43,776,412 (GRCm39) probably null Het
Efna5 T C 17: 62,958,040 (GRCm39) D72G probably benign Het
Epb41l2 T C 10: 25,378,038 (GRCm39) probably null Het
Espn A G 4: 152,215,709 (GRCm39) S408P probably damaging Het
Evi5l T C 8: 4,252,909 (GRCm39) probably benign Het
F830016B08Rik G A 18: 60,433,939 (GRCm39) V341I probably benign Het
Flii A G 11: 60,606,937 (GRCm39) L1013P possibly damaging Het
Fndc10 G A 4: 155,779,264 (GRCm39) V103M probably damaging Het
Frem3 T A 8: 81,395,820 (GRCm39) probably null Het
Gltp C T 5: 114,812,188 (GRCm39) R106Q probably damaging Het
Gtf3c3 A G 1: 54,458,575 (GRCm39) Y449H probably damaging Het
H1f9 G A 11: 94,858,986 (GRCm39) V94M probably damaging Het
Hmga1b T C 11: 120,653,866 (GRCm39) V51A probably damaging Het
Hsph1 A G 5: 149,542,308 (GRCm39) V705A probably benign Het
Igkv13-84 T C 6: 68,916,783 (GRCm39) S27P possibly damaging Het
Il15ra A G 2: 11,723,140 (GRCm39) N55D possibly damaging Het
Kctd19 T G 8: 106,123,103 (GRCm39) N104H probably damaging Het
Kif27 T G 13: 58,478,827 (GRCm39) D572A probably benign Het
Larp1b G A 3: 40,918,424 (GRCm39) G22R possibly damaging Het
Lcn2 A T 2: 32,274,655 (GRCm39) probably benign Het
Lmtk2 T A 5: 144,111,752 (GRCm39) I824N probably benign Het
Ltbp2 A G 12: 84,856,122 (GRCm39) I707T probably damaging Het
Macf1 A G 4: 123,266,141 (GRCm39) probably null Het
Magel2 A T 7: 62,027,486 (GRCm39) H130L unknown Het
Mcoln1 A G 8: 3,555,923 (GRCm39) I73V probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mycbp2 G T 14: 103,457,415 (GRCm39) T1627K probably benign Het
Myh8 A G 11: 67,177,084 (GRCm39) E412G probably damaging Het
Myo9a T A 9: 59,778,355 (GRCm39) D1370E probably benign Het
Ndufaf5 A G 2: 140,025,845 (GRCm39) T135A probably benign Het
Neb G A 2: 52,161,051 (GRCm39) Q2207* probably null Het
Nek3 T C 8: 22,647,055 (GRCm39) Y160C probably damaging Het
Or2y6 G C 11: 52,104,706 (GRCm39) L37V probably benign Het
Or5k8 A T 16: 58,644,469 (GRCm39) I201N possibly damaging Het
Osbpl8 A G 10: 111,105,279 (GRCm39) I245V probably benign Het
Pcdh9 T C 14: 94,125,079 (GRCm39) I241V probably benign Het
Pcdhb2 A G 18: 37,428,980 (GRCm39) T318A probably benign Het
Prlr T A 15: 10,319,462 (GRCm39) probably benign Het
Ptprz1 C T 6: 23,001,453 (GRCm39) A1181V possibly damaging Het
Racgap1 C A 15: 99,524,087 (GRCm39) S440I probably benign Het
Rap1gap2 A G 11: 74,326,525 (GRCm39) probably null Het
Rbm5 A G 9: 107,631,345 (GRCm39) V244A probably damaging Het
Rexo5 T G 7: 119,418,722 (GRCm39) I254R probably benign Het
Robo2 A T 16: 73,782,821 (GRCm39) S316T probably benign Het
Satb2 A T 1: 56,884,778 (GRCm39) V382E probably damaging Het
Scg2 C T 1: 79,414,381 (GRCm39) R114Q probably benign Het
Scube2 T C 7: 109,399,857 (GRCm39) D893G possibly damaging Het
Snrpn T C 7: 59,637,274 (GRCm39) D14G possibly damaging Het
Spag17 A G 3: 100,010,559 (GRCm39) T2018A probably benign Het
Spata9 T G 13: 76,116,001 (GRCm39) F17V possibly damaging Het
Supt6 A G 11: 78,103,572 (GRCm39) Y1378H possibly damaging Het
Thsd7b T C 1: 129,358,652 (GRCm39) S29P possibly damaging Het
Tmem59 A T 4: 107,047,915 (GRCm39) probably benign Het
Tmem87a A G 2: 120,227,905 (GRCm39) S81P probably benign Het
Togaram1 A T 12: 65,029,224 (GRCm39) E882D possibly damaging Het
Trbj2-4 T A 6: 41,520,308 (GRCm39) probably benign Het
Trim42 T A 9: 97,245,201 (GRCm39) Y533F probably benign Het
Tssk5 C T 15: 76,256,668 (GRCm39) R280Q probably benign Het
Vmn1r82 A G 7: 12,039,263 (GRCm39) T179A possibly damaging Het
Yipf7 T A 5: 69,676,704 (GRCm39) Q145L possibly damaging 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
R2915:Pcdhb12 UTSW 18 37,570,693 (GRCm39) missense probably damaging 1.00
R3689:Pcdhb12 UTSW 18 37,569,127 (GRCm39) missense probably benign 0.01
R3918:Pcdhb12 UTSW 18 37,570,101 (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'- TTCTCCTGAAACCCACATTTGAG -3'
(R):5'- AGCATCTCATAGTCCATCGC -3'

Sequencing Primer
(F):5'- TCCTGAAACCCACATTTGAGAATTAC -3'
(R):5'- ATAGTCCATCGCCCTGAGC -3'
Posted On 2015-09-25