Incidental Mutation 'R5961:Prtg'
ID 471835
Institutional Source Beutler Lab
Gene Symbol Prtg
Ensembl Gene ENSMUSG00000036030
Gene Name protogenin
Synonyms A230098A12Rik, Igdcc5
MMRRC Submission 043247-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.652) question?
Stock # R5961 (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 72764228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 567 (V567A)
Ref Sequence ENSEMBL: ENSMUSP00000055815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055535]
AlphaFold Q2EY15
Predicted Effect probably benign
Transcript: ENSMUST00000055535
AA Change: V567A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000055815
Gene: ENSMUSG00000036030
AA Change: V567A

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: 99.6%
  • 10x: 98.0%
  • 20x: 93.7%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr4 A G 9: 103,976,338 (GRCm39) L203P probably damaging Het
Aen C G 7: 78,556,907 (GRCm39) H252D probably damaging Het
Alkbh6 T A 7: 30,013,617 (GRCm39) probably null Het
Birc6 T C 17: 74,953,596 (GRCm39) V3286A probably damaging Het
Cacna1h A G 17: 25,596,246 (GRCm39) M1925T probably benign Het
Caprin2 A C 6: 148,765,038 (GRCm39) S554R probably damaging Het
Celsr3 T C 9: 108,708,993 (GRCm39) S1280P probably damaging Het
Cfap57 T C 4: 118,428,942 (GRCm39) E1008G probably benign Het
Csmd1 A G 8: 16,120,366 (GRCm39) I1813T probably damaging Het
Dnah10 A G 5: 124,888,546 (GRCm39) E3050G probably benign Het
Dnah2 A G 11: 69,321,974 (GRCm39) F3782S probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dnajc17 T C 2: 119,016,527 (GRCm39) T64A possibly damaging Het
Dvl3 T G 16: 20,349,729 (GRCm39) S567R possibly damaging Het
Epb41l1 T A 2: 156,363,706 (GRCm39) S738R probably benign Het
Exph5 T C 9: 53,288,555 (GRCm39) W1879R probably damaging Het
Fam83a T A 15: 57,872,992 (GRCm39) F274I possibly damaging Het
Ggt1 A G 10: 75,421,736 (GRCm39) probably null Het
Ido2 C T 8: 25,023,786 (GRCm39) V351M probably damaging Het
Kcnt2 A G 1: 140,435,440 (GRCm39) E469G possibly damaging Het
Kdm2b A G 5: 123,070,724 (GRCm39) S403P probably benign Het
Klhl2 C T 8: 65,202,818 (GRCm39) R460H probably damaging Het
Mfsd6l A G 11: 68,447,368 (GRCm39) Y73C possibly damaging Het
Mlec A T 5: 115,288,159 (GRCm39) C205* probably null Het
Mlx T C 11: 100,980,053 (GRCm39) Y129H probably damaging Het
Mmadhc T C 2: 50,181,421 (GRCm39) H83R probably damaging Het
Mmp16 T C 4: 17,853,842 (GRCm39) F41S probably benign Het
Mroh6 G A 15: 75,759,617 (GRCm39) Q187* probably null Het
Myh14 T A 7: 44,272,518 (GRCm39) E1437V probably damaging Het
Nrxn1 A C 17: 90,762,371 (GRCm39) L37R probably damaging Het
Or6c209 T C 10: 129,483,723 (GRCm39) M242T possibly damaging Het
Pkhd1l1 A C 15: 44,322,859 (GRCm39) R48S probably damaging Het
Prokr2 A G 2: 132,215,595 (GRCm39) Y128H possibly damaging Het
Rbis T C 3: 14,676,124 (GRCm39) T26A possibly damaging Het
Srrm2 G A 17: 24,039,083 (GRCm39) probably benign Het
Stat4 A T 1: 52,104,543 (GRCm39) I115L possibly damaging Het
Tnxb G A 17: 34,937,609 (GRCm39) V3833M probably damaging Het
Ugt2b36 C T 5: 87,228,724 (GRCm39) probably null Het
Usp45 A C 4: 21,810,797 (GRCm39) D331A probably damaging Het
Usp47 T C 7: 111,652,523 (GRCm39) S47P probably damaging Het
Vps53 A G 11: 75,939,316 (GRCm39) Y696H probably damaging Het
Zfp384 T C 6: 125,000,997 (GRCm39) I23T probably damaging Het
Zfp804a A G 2: 82,088,346 (GRCm39) Y725C 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
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
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'- GTGACCATGTTATGCTTTGCC -3'
(R):5'- CTTCCTAAACAGTCCCCAGGAG -3'

Sequencing Primer
(F):5'- ATTTCACTAGTGCCCCTAAGAC -3'
(R):5'- GAGGCGTTACCCGTTCGTTAC -3'
Posted On 2017-03-31