Incidental Mutation 'IGL01901:Prtg'
ID179540
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prtg
Ensembl Gene ENSMUSG00000036030
Gene Nameprotogenin
SynonymsIgdcc5, A230098A12Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.428) question?
Stock #IGL01901
Quality Score
Status
Chromosome9
Chromosomal Location72806874-72917291 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 72855066 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 492 (P492S)
Ref Sequence ENSEMBL: ENSMUSP00000055815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055535]
Predicted Effect probably damaging
Transcript: ENSMUST00000055535
AA Change: P492S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055815
Gene: ENSMUSG00000036030
AA Change: P492S

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
4931408C20Rik A G 1: 26,682,584 F1172L probably benign Het
Adam2 A G 14: 66,035,229 probably benign Het
Aldh1a7 T G 19: 20,717,739 Y154S probably damaging Het
BC117090 C A 16: 36,334,263 A11S probably damaging Het
Casc3 A G 11: 98,823,121 D393G probably damaging Het
Cd180 A G 13: 102,706,428 I661V probably benign Het
Cdh1 T C 8: 106,657,760 S287P probably damaging Het
Clnk T C 5: 38,794,978 N6S probably damaging Het
Cyp17a1 C T 19: 46,671,092 V100M possibly damaging Het
Ddhd2 A G 8: 25,748,594 V53A probably damaging Het
Elovl7 T A 13: 108,274,393 probably null Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm14180 A G 11: 99,734,227 S22P unknown Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Golga5 G A 12: 102,479,802 probably null Het
Gpr162 A T 6: 124,861,407 F93L possibly damaging Het
Kcnh8 G A 17: 52,894,120 probably benign Het
Lamp3 A T 16: 19,673,419 F358L probably damaging Het
Mdn1 T G 4: 32,669,591 D409E probably damaging Het
Ms4a10 T C 19: 10,963,010 D211G probably benign Het
Ms4a3 T C 19: 11,639,266 E4G possibly damaging Het
Myo15 A G 11: 60,527,434 probably benign Het
Olfr1257 A G 2: 89,881,482 I219V probably damaging Het
Olfr1448 T C 19: 12,919,583 H242R probably damaging Het
Olfr612 A T 7: 103,538,970 L88Q probably damaging Het
Olfr638 A G 7: 104,004,067 H264R probably damaging Het
Olfr698 A G 7: 106,752,545 V281A possibly damaging Het
Olfr815 A G 10: 129,901,853 F286L probably benign Het
Penk T C 4: 4,134,465 I61V probably benign Het
Pkhd1 T A 1: 20,220,083 K2860N probably benign Het
Tdrd7 T C 4: 45,989,225 probably benign Het
Terf2ip A G 8: 112,012,068 N196S probably benign Het
Tgtp1 T C 11: 48,987,555 N108D possibly damaging Het
Thumpd3 A G 6: 113,059,971 H277R probably benign Het
Tshz2 T A 2: 169,885,536 L215Q possibly damaging Het
Ube3c T A 5: 29,668,007 V1015E probably damaging Het
Utrn T A 10: 12,640,928 K2307N probably damaging Het
Vmn1r75 A G 7: 11,880,812 Y157C probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Prtg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00597:Prtg APN 9 72809644 missense probably damaging 1.00
IGL00942:Prtg APN 9 72892340 missense possibly damaging 0.82
IGL01821:Prtg APN 9 72911937 missense probably damaging 0.98
IGL02143:Prtg APN 9 72892324 missense probably damaging 1.00
IGL02232:Prtg APN 9 72851489 missense probably damaging 1.00
IGL02451:Prtg APN 9 72856999 missense possibly damaging 0.95
IGL02510:Prtg APN 9 72890869 missense probably damaging 0.99
IGL02739:Prtg APN 9 72851585 missense possibly damaging 0.92
IGL03136:Prtg APN 9 72856985 missense possibly damaging 0.91
FR4548:Prtg UTSW 9 72857081 critical splice donor site probably benign
FR4589:Prtg UTSW 9 72856865 missense probably damaging 1.00
FR4737:Prtg UTSW 9 72857081 critical splice donor site probably benign
R0130:Prtg UTSW 9 72809716 missense probably damaging 1.00
R0321:Prtg UTSW 9 72848025 missense possibly damaging 0.83
R0390:Prtg UTSW 9 72844958 missense probably benign 0.24
R0900:Prtg UTSW 9 72844943 missense probably benign
R1121:Prtg UTSW 9 72906167 missense probably benign 0.15
R1438:Prtg UTSW 9 72910750 splice site probably benign
R1537:Prtg UTSW 9 72809757 missense probably benign 0.00
R1590:Prtg UTSW 9 72842807 missense probably benign
R1626:Prtg UTSW 9 72844911 missense probably damaging 1.00
R1965:Prtg UTSW 9 72848322 missense probably benign 0.27
R1993:Prtg UTSW 9 72844896 missense probably benign
R2351:Prtg UTSW 9 72856824 missense probably damaging 1.00
R3737:Prtg UTSW 9 72842709 nonsense probably null
R3921:Prtg UTSW 9 72848347 missense probably damaging 0.98
R4035:Prtg UTSW 9 72842709 nonsense probably null
R4378:Prtg UTSW 9 72842760 missense possibly damaging 0.91
R4687:Prtg UTSW 9 72890798 missense probably damaging 1.00
R5469:Prtg UTSW 9 72891965 missense probably damaging 0.98
R5556:Prtg UTSW 9 72851704 missense probably damaging 1.00
R5563:Prtg UTSW 9 72856898 missense probably damaging 1.00
R5710:Prtg UTSW 9 72809640 missense probably damaging 1.00
R5738:Prtg UTSW 9 72912006 missense probably benign 0.16
R5868:Prtg UTSW 9 72809717 nonsense probably null
R5961:Prtg UTSW 9 72856946 missense probably benign
R5964:Prtg UTSW 9 72892254 missense probably benign 0.41
R6217:Prtg UTSW 9 72904794 missense probably damaging 1.00
R6306:Prtg UTSW 9 72906186 missense probably benign 0.42
R6395:Prtg UTSW 9 72912132 missense possibly damaging 0.80
R6455:Prtg UTSW 9 72907856 missense probably damaging 1.00
R6673:Prtg UTSW 9 72851682 missense probably damaging 0.99
R6985:Prtg UTSW 9 72851501 missense probably damaging 1.00
X0028:Prtg UTSW 9 72851716 missense possibly damaging 0.55
X0064:Prtg UTSW 9 72904892 splice site probably null
Posted On2014-05-07