Incidental Mutation 'IGL02739:Prtg'
ID 305793
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prtg
Ensembl Gene ENSMUSG00000036030
Gene Name protogenin
Synonyms A230098A12Rik, Igdcc5
Accession Numbers
Essential gene? Possibly essential (E-score: 0.652) question?
Stock # IGL02739
Quality Score
Status
Chromosome 9
Chromosomal Location 72714556-72824589 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72758867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 407 (V407A)
Ref Sequence ENSEMBL: ENSMUSP00000055815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055535]
AlphaFold Q2EY15
Predicted Effect possibly damaging
Transcript: ENSMUST00000055535
AA Change: V407A

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000055815
Gene: ENSMUSG00000036030
AA Change: V407A

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
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 77,026,364 (GRCm39) C887S possibly damaging Het
Adamdec1 C A 14: 68,807,605 (GRCm39) E352* probably null Het
Bglap2 A T 3: 88,285,319 (GRCm39) probably null Het
Bsn A T 9: 107,989,745 (GRCm39) H2002Q probably benign Het
Chtop T A 3: 90,409,557 (GRCm39) Q165L possibly damaging Het
Clcn1 A T 6: 42,263,714 (GRCm39) probably null Het
Ctsr T C 13: 61,309,658 (GRCm39) T184A probably benign Het
Defb36 T C 2: 152,446,439 (GRCm39) L11P unknown Het
Dock8 A G 19: 25,165,852 (GRCm39) E1912G probably damaging Het
Dpp3 A G 19: 4,973,756 (GRCm39) Y106H probably damaging Het
Epas1 A G 17: 87,112,710 (GRCm39) T103A probably damaging Het
Epcam A T 17: 87,947,922 (GRCm39) T131S probably benign Het
Fam169a A G 13: 97,230,563 (GRCm39) probably benign Het
Gh T A 11: 106,192,559 (GRCm39) probably benign Het
Kif20a A T 18: 34,761,996 (GRCm39) K399* probably null Het
Lrp1b A G 2: 41,388,227 (GRCm39) I466T probably damaging Het
Nlk A G 11: 78,465,677 (GRCm39) V409A probably benign Het
Nomo1 A G 7: 45,693,731 (GRCm39) probably null Het
Nr2c1 T A 10: 93,992,834 (GRCm39) M16K probably damaging Het
Nxph2 A T 2: 23,289,912 (GRCm39) Q88L probably benign Het
Or51a39 A G 7: 102,363,521 (GRCm39) I33T possibly damaging Het
Pkdrej T A 15: 85,703,895 (GRCm39) R680S probably benign Het
Pkhd1l1 A T 15: 44,404,346 (GRCm39) N2325I probably benign Het
Pnliprp2 T C 19: 58,748,941 (GRCm39) probably null Het
Ppp1r42 T A 1: 10,039,078 (GRCm39) K347N probably benign Het
Psmb8 C A 17: 34,419,728 (GRCm39) S194* probably null Het
Rnf214 T C 9: 45,780,772 (GRCm39) I406V probably benign Het
Rreb1 C T 13: 38,077,797 (GRCm39) S3L probably damaging Het
Sdad1 C T 5: 92,437,931 (GRCm39) A539T probably benign Het
Sema3a A G 5: 13,501,128 (GRCm39) Y57C probably damaging Het
Susd5 A G 9: 113,925,101 (GRCm39) E328G possibly damaging Het
Syngr3 T C 17: 24,905,372 (GRCm39) T175A probably damaging Het
Tcf20 T A 15: 82,740,281 (GRCm39) Q390L probably damaging Het
Tex15 A G 8: 34,071,721 (GRCm39) T2423A possibly damaging Het
Tlr1 T C 5: 65,084,469 (GRCm39) N36S probably benign Het
Uchl4 C T 9: 64,142,819 (GRCm39) T100M probably damaging Het
Uhrf1 A G 17: 56,612,129 (GRCm39) K11R probably benign Het
Vps13b T A 15: 35,880,046 (GRCm39) D3040E probably damaging Het
Wdr62 A T 7: 29,941,885 (GRCm39) Y640* probably null Het
Zkscan17 T G 11: 59,394,352 (GRCm39) E83A 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
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
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
Posted On 2015-04-16