Incidental Mutation 'R5556:Prtg'
ID 435399
Institutional Source Beutler Lab
Gene Symbol Prtg
Ensembl Gene ENSMUSG00000036030
Gene Name protogenin
Synonyms A230098A12Rik, Igdcc5
MMRRC Submission 043113-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.652) question?
Stock # R5556 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 72714556-72824589 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72758986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 447 (S447P)
Ref Sequence ENSEMBL: ENSMUSP00000055815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055535]
AlphaFold Q2EY15
Predicted Effect probably damaging
Transcript: ENSMUST00000055535
AA Change: S447P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055815
Gene: ENSMUSG00000036030
AA Change: S447P

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IGc2 45 114 1.7e-8 SMART
IGc2 141 206 8.5e-12 SMART
IGc2 241 305 6.9e-12 SMART
IGc2 333 396 9.4e-10 SMART
FN3 413 496 8.9e-11 SMART
FN3 511 594 1.3e-10 SMART
FN3 613 693 1.5e-5 SMART
FN3 715 798 3e-10 SMART
FN3 814 898 4.4e-12 SMART
transmembrane domain 943 965 N/A INTRINSIC
low complexity region 966 976 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the immunoglobulin superfamily. The encoded transmembrane protein has been associated with the development of various tissues, especially neurogenesis. It has been suggested that this gene may be associated with attention deficit hyperactivity disorder (ADHD). [provided by RefSeq, Nov 2014]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T A 11: 72,066,026 (GRCm39) probably null Het
Abca13 A T 11: 9,208,546 (GRCm39) I240F possibly damaging Het
Accs A G 2: 93,666,428 (GRCm39) Y420H probably damaging Het
Aco2 T C 15: 81,773,520 (GRCm39) Y20H probably damaging Het
Adck2 T C 6: 39,560,869 (GRCm39) V419A probably benign Het
Bahd1 T A 2: 118,746,751 (GRCm39) N123K probably damaging Het
Cast A G 13: 74,844,008 (GRCm39) probably null Het
Cd164l2 T A 4: 132,951,016 (GRCm39) V157E probably damaging Het
Cdk11b C T 4: 155,718,604 (GRCm39) Q185* probably null Het
Ces2g T C 8: 105,694,074 (GRCm39) F470S probably benign Het
Cherp C G 8: 73,221,824 (GRCm39) Q313H probably damaging Het
Chrna4 A G 2: 180,675,773 (GRCm39) V110A possibly damaging Het
Cndp2 A G 18: 84,690,249 (GRCm39) V231A probably benign Het
Cst7 A T 2: 150,412,488 (GRCm39) H17L probably benign Het
Decr1 C T 4: 15,919,244 (GRCm39) D300N probably damaging Het
Dennd4b G A 3: 90,175,675 (GRCm39) R148Q probably damaging Het
Dgkb T G 12: 38,177,363 (GRCm39) V230G probably damaging Het
Dis3l2 T C 1: 86,901,126 (GRCm39) V439A possibly damaging Het
Disp3 C T 4: 148,342,614 (GRCm39) G612D probably benign Het
Dock7 T C 4: 98,832,972 (GRCm39) T1962A probably damaging Het
Entrep2 A G 7: 64,505,957 (GRCm39) F96S probably damaging Het
Fibp T A 19: 5,514,227 (GRCm39) V304E possibly damaging Het
Flt3 T A 5: 147,269,807 (GRCm39) probably null Het
Kifc3 G A 8: 95,835,087 (GRCm39) Q233* probably null Het
Klhl42 C A 6: 147,009,610 (GRCm39) S483Y probably benign Het
Map3k19 G A 1: 127,762,284 (GRCm39) R276* probably null Het
Mecom A G 3: 30,292,249 (GRCm39) S87P probably damaging Het
Med13 A G 11: 86,218,664 (GRCm39) V416A probably benign Het
Mepe G A 5: 104,486,078 (GRCm39) G406D probably damaging Het
Met T G 6: 17,534,175 (GRCm39) L673V probably benign Het
Mlh3 A T 12: 85,315,267 (GRCm39) Y306* probably null Het
Nrxn2 C A 19: 6,540,121 (GRCm39) A814E probably damaging Het
Nsmaf C T 4: 6,398,621 (GRCm39) V828I probably benign Het
Or2j3 T A 17: 38,615,964 (GRCm39) K129N possibly damaging Het
Or9r7 A T 10: 129,962,728 (GRCm39) L66H probably damaging Het
Panx1 A G 9: 14,918,929 (GRCm39) I310T possibly damaging Het
Pcare T C 17: 72,059,420 (GRCm39) K86E possibly damaging Het
Pcdhb6 T A 18: 37,467,442 (GRCm39) L121Q probably damaging Het
Plekha7 G A 7: 115,763,384 (GRCm39) T406I probably benign Het
Ptprr A G 10: 116,087,054 (GRCm39) Y267C probably damaging Het
Rbpjl A G 2: 164,249,982 (GRCm39) T134A probably benign Het
Relch C A 1: 105,620,892 (GRCm39) Q456K probably benign Het
Rpe C A 1: 66,745,625 (GRCm39) T55N probably damaging Het
Scn1a T C 2: 66,155,141 (GRCm39) D606G probably benign Het
Setd5 T A 6: 113,124,463 (GRCm39) N1105K probably benign Het
Sh3d21 T C 4: 126,056,029 (GRCm39) N126D possibly damaging Het
Shank1 A G 7: 43,993,739 (GRCm39) probably benign Het
Srgap3 T A 6: 112,716,039 (GRCm39) D627V probably damaging Het
Tacc2 T A 7: 130,276,336 (GRCm39) S1796T probably damaging Het
Tmco3 G A 8: 13,344,870 (GRCm39) V217I probably damaging Het
Trgc4 A T 13: 19,536,477 (GRCm39) R178S unknown Het
Tspan10 A T 11: 120,335,541 (GRCm39) Y217F possibly damaging Het
Usp3 G A 9: 66,451,303 (GRCm39) T153M possibly damaging Het
Xdh G T 17: 74,204,759 (GRCm39) T1067K probably benign Het
Zfp334 T C 2: 165,222,504 (GRCm39) D513G probably benign Het
Other mutations in Prtg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00597:Prtg APN 9 72,716,926 (GRCm39) missense probably damaging 1.00
IGL00942:Prtg APN 9 72,799,622 (GRCm39) missense possibly damaging 0.82
IGL01821:Prtg APN 9 72,819,219 (GRCm39) missense probably damaging 0.98
IGL01901:Prtg APN 9 72,762,348 (GRCm39) missense probably damaging 1.00
IGL02143:Prtg APN 9 72,799,606 (GRCm39) missense probably damaging 1.00
IGL02232:Prtg APN 9 72,758,771 (GRCm39) missense probably damaging 1.00
IGL02451:Prtg APN 9 72,764,281 (GRCm39) missense possibly damaging 0.95
IGL02510:Prtg APN 9 72,798,151 (GRCm39) missense probably damaging 0.99
IGL02739:Prtg APN 9 72,758,867 (GRCm39) missense possibly damaging 0.92
IGL03136:Prtg APN 9 72,764,267 (GRCm39) missense possibly damaging 0.91
FR4548:Prtg UTSW 9 72,764,363 (GRCm39) critical splice donor site probably benign
FR4589:Prtg UTSW 9 72,764,147 (GRCm39) missense probably damaging 1.00
FR4737:Prtg UTSW 9 72,764,363 (GRCm39) critical splice donor site probably benign
R0130:Prtg UTSW 9 72,716,998 (GRCm39) missense probably damaging 1.00
R0321:Prtg UTSW 9 72,755,307 (GRCm39) missense possibly damaging 0.83
R0390:Prtg UTSW 9 72,752,240 (GRCm39) missense probably benign 0.24
R0900:Prtg UTSW 9 72,752,225 (GRCm39) missense probably benign
R1121:Prtg UTSW 9 72,813,449 (GRCm39) missense probably benign 0.15
R1438:Prtg UTSW 9 72,818,032 (GRCm39) splice site probably benign
R1537:Prtg UTSW 9 72,717,039 (GRCm39) missense probably benign 0.00
R1590:Prtg UTSW 9 72,750,089 (GRCm39) missense probably benign
R1626:Prtg UTSW 9 72,752,193 (GRCm39) missense probably damaging 1.00
R1965:Prtg UTSW 9 72,755,604 (GRCm39) missense probably benign 0.27
R1993:Prtg UTSW 9 72,752,178 (GRCm39) missense probably benign
R2351:Prtg UTSW 9 72,764,106 (GRCm39) missense probably damaging 1.00
R3737:Prtg UTSW 9 72,749,991 (GRCm39) nonsense probably null
R3921:Prtg UTSW 9 72,755,629 (GRCm39) missense probably damaging 0.98
R4035:Prtg UTSW 9 72,749,991 (GRCm39) nonsense probably null
R4378:Prtg UTSW 9 72,750,042 (GRCm39) missense possibly damaging 0.91
R4687:Prtg UTSW 9 72,798,080 (GRCm39) missense probably damaging 1.00
R5469:Prtg UTSW 9 72,799,247 (GRCm39) missense probably damaging 0.98
R5563:Prtg UTSW 9 72,764,180 (GRCm39) missense probably damaging 1.00
R5710:Prtg UTSW 9 72,716,922 (GRCm39) missense probably damaging 1.00
R5738:Prtg UTSW 9 72,819,288 (GRCm39) missense probably benign 0.16
R5868:Prtg UTSW 9 72,716,999 (GRCm39) nonsense probably null
R5961:Prtg UTSW 9 72,764,228 (GRCm39) missense probably benign
R5964:Prtg UTSW 9 72,799,536 (GRCm39) missense probably benign 0.41
R6217:Prtg UTSW 9 72,812,076 (GRCm39) missense probably damaging 1.00
R6306:Prtg UTSW 9 72,813,468 (GRCm39) missense probably benign 0.42
R6395:Prtg UTSW 9 72,819,414 (GRCm39) missense possibly damaging 0.80
R6455:Prtg UTSW 9 72,815,138 (GRCm39) missense probably damaging 1.00
R6673:Prtg UTSW 9 72,758,964 (GRCm39) missense probably damaging 0.99
R6985:Prtg UTSW 9 72,758,783 (GRCm39) missense probably damaging 1.00
R7014:Prtg UTSW 9 72,799,267 (GRCm39) missense possibly damaging 0.95
R7233:Prtg UTSW 9 72,819,273 (GRCm39) missense probably benign 0.00
R7261:Prtg UTSW 9 72,815,117 (GRCm39) missense possibly damaging 0.94
R7324:Prtg UTSW 9 72,798,122 (GRCm39) missense probably damaging 0.96
R7372:Prtg UTSW 9 72,758,848 (GRCm39) nonsense probably null
R7808:Prtg UTSW 9 72,749,979 (GRCm39) missense possibly damaging 0.81
R8069:Prtg UTSW 9 72,752,265 (GRCm39) missense probably benign 0.10
R8262:Prtg UTSW 9 72,813,520 (GRCm39) missense probably benign 0.00
R8280:Prtg UTSW 9 72,813,433 (GRCm39) missense probably damaging 0.99
R8290:Prtg UTSW 9 72,798,077 (GRCm39) missense probably damaging 1.00
R8511:Prtg UTSW 9 72,798,156 (GRCm39) critical splice donor site probably null
R8773:Prtg UTSW 9 72,819,583 (GRCm39) makesense probably null
R9020:Prtg UTSW 9 72,799,277 (GRCm39) missense probably damaging 0.98
R9104:Prtg UTSW 9 72,755,607 (GRCm39) missense probably damaging 1.00
R9166:Prtg UTSW 9 72,764,107 (GRCm39) missense probably damaging 1.00
R9186:Prtg UTSW 9 72,764,159 (GRCm39) missense probably benign 0.34
R9256:Prtg UTSW 9 72,758,977 (GRCm39) missense probably damaging 0.99
R9277:Prtg UTSW 9 72,716,929 (GRCm39) missense probably benign 0.02
R9383:Prtg UTSW 9 72,757,143 (GRCm39) missense probably benign 0.39
R9402:Prtg UTSW 9 72,819,253 (GRCm39) missense probably benign 0.37
R9564:Prtg UTSW 9 72,766,153 (GRCm39) missense probably damaging 0.99
R9644:Prtg UTSW 9 72,813,493 (GRCm39) missense probably damaging 0.99
R9700:Prtg UTSW 9 72,762,313 (GRCm39) missense probably benign
X0028:Prtg UTSW 9 72,758,998 (GRCm39) missense possibly damaging 0.55
X0064:Prtg UTSW 9 72,812,174 (GRCm39) splice site probably null
Z1176:Prtg UTSW 9 72,801,250 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTGAAAACAGCCAAGGATCTG -3'
(R):5'- TGGTCCTCAGGGTGAAAATCTC -3'

Sequencing Primer
(F):5'- ACAGCCAAGGATCTGTTCTG -3'
(R):5'- TAGTCCAGGATGGCCATGAACTTC -3'
Posted On 2016-10-24