Incidental Mutation 'R3921:Prtg'
ID 315741
Institutional Source Beutler Lab
Gene Symbol Prtg
Ensembl Gene ENSMUSG00000036030
Gene Name protogenin
Synonyms A230098A12Rik, Igdcc5
MMRRC Submission 040818-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.652) question?
Stock # R3921 (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 72755629 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 277 (V277A)
Ref Sequence ENSEMBL: ENSMUSP00000055815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055535]
AlphaFold Q2EY15
Predicted Effect probably damaging
Transcript: ENSMUST00000055535
AA Change: V277A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000055815
Gene: ENSMUSG00000036030
AA Change: V277A

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: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 T A 3: 59,659,498 (GRCm39) L317Q probably damaging Het
Aebp2 C T 6: 140,579,461 (GRCm39) R11C probably damaging Het
Anxa8 T C 14: 33,816,403 (GRCm39) F201L probably damaging Het
Armh4 A G 14: 50,011,659 (GRCm39) F16S probably benign Het
Bcl7a A G 5: 123,509,136 (GRCm39) N206S probably benign Het
Birc6 A G 17: 74,934,014 (GRCm39) N2542D probably damaging Het
Cubn A G 2: 13,331,488 (GRCm39) Y2562H probably damaging Het
Dnah12 C G 14: 26,493,008 (GRCm39) D1256E probably damaging Het
Dnajb14 A T 3: 137,610,613 (GRCm39) R280S probably damaging Het
Dop1a A T 9: 86,402,324 (GRCm39) I1173F probably benign Het
Fam228a T C 12: 4,781,506 (GRCm39) T118A probably benign Het
Gata2 TGCCATGGGCTAGGCAAGCC TGCC 6: 88,182,464 (GRCm39) probably null Het
Hif3a T C 7: 16,771,097 (GRCm39) D618G possibly damaging Het
Ighv1-43 C A 12: 114,909,772 (GRCm39) G50V probably benign Het
Lrrc37a G T 11: 103,392,296 (GRCm39) T1043N probably benign Het
Masp2 T A 4: 148,690,188 (GRCm39) D232E possibly damaging Het
Ms4a4a A C 19: 11,356,172 (GRCm39) Q19P probably benign Het
Nckipsd A G 9: 108,691,275 (GRCm39) E399G possibly damaging Het
Nnt T A 13: 119,503,030 (GRCm39) T572S probably damaging Het
Olig3 A G 10: 19,232,423 (GRCm39) D16G probably damaging Het
Or4a74 C T 2: 89,439,853 (GRCm39) V198I probably benign Het
Or5p57 T A 7: 107,665,108 (GRCm39) D299V possibly damaging Het
Polr2b T C 5: 77,474,500 (GRCm39) Y446H probably damaging Het
Rnf31 T C 14: 55,838,599 (GRCm39) Y857H probably damaging Het
Serac1 T C 17: 6,117,067 (GRCm39) D163G probably damaging Het
Slc22a22 C A 15: 57,119,940 (GRCm39) V197F probably benign Het
Slc2a10 C T 2: 165,357,521 (GRCm39) P394S probably benign Het
Spg7 G C 8: 123,814,112 (GRCm39) R457P probably damaging Het
St7 A G 6: 17,846,244 (GRCm39) N120D probably benign Het
Sult2a6 C T 7: 13,988,668 (GRCm39) V31M possibly damaging Het
Taf3 T C 2: 10,053,109 (GRCm39) T35A probably benign Het
Tmem131l A G 3: 83,847,908 (GRCm39) I319T possibly damaging Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Ttc23l T TTGGATG 15: 10,537,649 (GRCm39) probably benign Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Vmn2r9 T G 5: 108,996,921 (GRCm39) Y116S probably benign Het
Vstm2l A G 2: 157,777,283 (GRCm39) T54A probably benign Het
Xrn1 T A 9: 95,851,337 (GRCm39) M153K probably benign Het
Zfp106 G A 2: 120,364,097 (GRCm39) P770L probably damaging 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
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
R5556:Prtg UTSW 9 72,758,986 (GRCm39) missense probably damaging 1.00
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'- AGTTTTGCAACATAAGGAGAGC -3'
(R):5'- GGTGACTTCGGCATGATTATAGAGC -3'

Sequencing Primer
(F):5'- GCTTATGCCCCAGAGAAATTG -3'
(R):5'- TGGCTAAGAACACTTGCTGC -3'
Posted On 2015-05-15