Incidental Mutation 'R1438:Prtg'
ID 160778
Institutional Source Beutler Lab
Gene Symbol Prtg
Ensembl Gene ENSMUSG00000036030
Gene Name protogenin
Synonyms A230098A12Rik, Igdcc5
MMRRC Submission 039493-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.652) question?
Stock # R1438 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 72714556-72824589 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 72818032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000055815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055535]
AlphaFold Q2EY15
Predicted Effect probably benign
Transcript: ENSMUST00000055535
SMART Domains Protein: ENSMUSP00000055815
Gene: ENSMUSG00000036030

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184274
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 87.3%
Validation Efficiency 99% (80/81)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A T 5: 137,552,871 (GRCm39) I67F probably damaging Het
Adam24 A T 8: 41,134,431 (GRCm39) N633I probably benign Het
Adgrg6 T C 10: 14,344,585 (GRCm39) S123G possibly damaging Het
Afdn T A 17: 14,075,652 (GRCm39) F940L probably damaging Het
Ahrr A T 13: 74,372,987 (GRCm39) Y26* probably null Het
Akap1 C A 11: 88,735,577 (GRCm39) G362* probably null Het
Aox3 A T 1: 58,192,337 (GRCm39) T536S probably benign Het
Boc A T 16: 44,309,109 (GRCm39) probably null Het
Cchcr1 T C 17: 35,841,457 (GRCm39) probably null Het
Cct2 A T 10: 116,890,897 (GRCm39) probably benign Het
Cd84 A T 1: 171,679,685 (GRCm39) Y121F probably damaging Het
Cecr2 T A 6: 120,738,433 (GRCm39) C275* probably null Het
Chchd3 C A 6: 32,985,503 (GRCm39) probably benign Het
Ckmt2 A T 13: 92,007,971 (GRCm39) probably benign Het
Col5a3 T C 9: 20,691,253 (GRCm39) K1131E probably damaging Het
Dek A T 13: 47,241,647 (GRCm39) S306T probably benign Het
Dhx32 T C 7: 133,339,069 (GRCm39) E322G possibly damaging Het
Dlg5 T A 14: 24,204,673 (GRCm39) D941V possibly damaging Het
Dnah10 A G 5: 124,876,009 (GRCm39) N2559S probably benign Het
Dnajc3 A G 14: 119,205,518 (GRCm39) T171A probably benign Het
Eftud2 G T 11: 102,750,868 (GRCm39) F308L probably damaging Het
Elp6 T C 9: 110,143,123 (GRCm39) F95S probably damaging Het
Emsy C T 7: 98,270,613 (GRCm39) V450I possibly damaging Het
Exoc3 A T 13: 74,338,298 (GRCm39) M362K probably damaging Het
Fat2 A T 11: 55,178,637 (GRCm39) D1474E probably damaging Het
Fcgbp T A 7: 27,803,158 (GRCm39) C1587* probably null Het
Fosl2 T A 5: 32,304,329 (GRCm39) L88Q probably damaging Het
Fsd2 T C 7: 81,198,621 (GRCm39) D381G probably benign Het
Golim4 A C 3: 75,863,440 (GRCm39) S56A probably damaging Het
Gpr39 T C 1: 125,800,093 (GRCm39) probably benign Het
Gucy1b2 T C 14: 62,651,770 (GRCm39) I409V probably damaging Het
Hivep1 A G 13: 42,311,596 (GRCm39) T1279A probably benign Het
Ifit1bl2 T A 19: 34,596,569 (GRCm39) Q349L possibly damaging Het
Kcnc1 A T 7: 46,077,691 (GRCm39) I498F possibly damaging Het
Kctd21 T A 7: 96,996,704 (GRCm39) I59N probably damaging Het
Lama5 T A 2: 179,824,593 (GRCm39) T2577S probably benign Het
Mief2 G T 11: 60,621,140 (GRCm39) R9M possibly damaging Het
Mmp3 T C 9: 7,453,705 (GRCm39) V442A probably benign Het
Nkapd1 C A 9: 50,518,972 (GRCm39) K213N possibly damaging Het
Nrxn3 C T 12: 90,298,909 (GRCm39) R477W probably damaging Het
Or12e7 A G 2: 87,288,336 (GRCm39) T276A probably benign Het
Or7a41 T A 10: 78,871,122 (GRCm39) V164E possibly damaging Het
Parp1 A G 1: 180,418,807 (GRCm39) T656A probably benign Het
Pcdhb19 A G 18: 37,631,015 (GRCm39) D270G probably damaging Het
Phlpp1 A G 1: 106,101,142 (GRCm39) D470G possibly damaging Het
Prdm1 T C 10: 44,318,124 (GRCm39) E248G probably benign Het
Ptpn1 T C 2: 167,818,529 (GRCm39) Y424H probably damaging Het
Ptprr T C 10: 116,092,109 (GRCm39) V369A probably damaging Het
Rai1 T G 11: 60,076,221 (GRCm39) V95G probably benign Het
Rasal3 T A 17: 32,612,509 (GRCm39) probably null Het
Rbm19 A G 5: 120,260,961 (GRCm39) E195G probably benign Het
Rhbdd3 T A 11: 5,053,332 (GRCm39) L44Q probably damaging Het
Ripply2 T C 9: 86,901,713 (GRCm39) W80R probably damaging Het
Rnf183 A G 4: 62,346,760 (GRCm39) C13R probably damaging Het
Rorb A G 19: 18,932,417 (GRCm39) L367P probably damaging Het
Rpl7a-ps5 C T 17: 58,146,135 (GRCm39) probably benign Het
Rreb1 A G 13: 38,114,581 (GRCm39) N647D probably benign Het
Rtn1 A T 12: 72,351,187 (GRCm39) S341T probably damaging Het
Ryr3 T C 2: 112,588,046 (GRCm39) S2632G probably benign Het
Scube1 A G 15: 83,499,227 (GRCm39) C633R possibly damaging Het
Sdk1 A T 5: 142,024,078 (GRCm39) I723F probably damaging Het
Sec23a A T 12: 59,048,796 (GRCm39) C109S probably damaging Het
Septin11 T C 5: 93,296,287 (GRCm39) F60L probably damaging Het
Sgf29 G A 7: 126,271,063 (GRCm39) probably null Het
Skint5 A G 4: 113,413,308 (GRCm39) probably benign Het
Smo G A 6: 29,755,482 (GRCm39) V385I possibly damaging Het
Tada2a G A 11: 84,000,837 (GRCm39) T76I probably damaging Het
Tas2r118 T A 6: 23,969,422 (GRCm39) H213L possibly damaging Het
Thoc5 A T 11: 4,861,427 (GRCm39) probably benign Het
Tmem33 T A 5: 67,424,634 (GRCm39) probably null Het
Top1mt A G 15: 75,546,247 (GRCm39) L78P probably damaging Het
Uvssa T A 5: 33,571,228 (GRCm39) probably benign Het
Vmn2r50 A T 7: 9,784,062 (GRCm39) C137* probably null Het
Vmn2r81 A G 10: 79,129,691 (GRCm39) T861A probably benign Het
Wnt3 A T 11: 103,699,077 (GRCm39) N61I probably damaging Het
Zswim9 A G 7: 13,011,144 (GRCm39) I68T possibly damaging Het
Zzef1 T C 11: 72,803,771 (GRCm39) I2535T 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
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
Predicted Primers PCR Primer
(F):5'- TCCCCATGTAGGAGAGGTCACCAT -3'
(R):5'- ACCACATCTCAGATTACTGTCCGAACT -3'

Sequencing Primer
(F):5'- ATATGTGACCATTGTCTCCTTTGG -3'
(R):5'- AGATTACTGTCCGAACTTTCTTTC -3'
Posted On 2014-03-14