Incidental Mutation 'R6985:Prtg'
| ID |
542913 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prtg
|
| Ensembl Gene |
ENSMUSG00000036030 |
| Gene Name |
protogenin |
| Synonyms |
A230098A12Rik, Igdcc5 |
| MMRRC Submission |
045092-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.622)
|
| Stock # |
R6985 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
72714556-72824589 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 72758783 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 379
(I379S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055535]
|
| AlphaFold |
Q2EY15 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055535
AA Change: I379S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055815
Gene: ENSMUSG00000036030
AA Change: I379S
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Meta Mutation Damage Score |
0.6736 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.4%
|
| Validation Efficiency |
100% (66/66) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akirin1 |
A |
G |
4: 123,630,649 (GRCm39) |
*192R |
probably null |
Het |
| Ankar |
A |
C |
1: 72,697,641 (GRCm39) |
L836R |
probably damaging |
Het |
| Anxa7 |
G |
T |
14: 20,521,636 (GRCm39) |
A20E |
unknown |
Het |
| Arhgap1 |
T |
A |
2: 91,498,543 (GRCm39) |
Y147N |
probably damaging |
Het |
| Arid2 |
T |
C |
15: 96,268,029 (GRCm39) |
V714A |
probably benign |
Het |
| Arrdc3 |
T |
C |
13: 81,031,776 (GRCm39) |
L3P |
probably damaging |
Het |
| Bhmt2 |
T |
C |
13: 93,799,830 (GRCm39) |
D202G |
possibly damaging |
Het |
| Bub1b |
A |
G |
2: 118,437,095 (GRCm39) |
R98G |
probably damaging |
Het |
| Capn10 |
T |
C |
1: 92,871,146 (GRCm39) |
Y319H |
probably damaging |
Het |
| Cep95 |
T |
C |
11: 106,709,529 (GRCm39) |
F115S |
probably damaging |
Het |
| Chsy3 |
A |
T |
18: 59,309,560 (GRCm39) |
|
probably null |
Het |
| Cnot1 |
T |
C |
8: 96,460,757 (GRCm39) |
N1755S |
probably benign |
Het |
| Cntn4 |
A |
G |
6: 106,656,378 (GRCm39) |
N893S |
probably benign |
Het |
| Ctsh |
G |
A |
9: 89,936,657 (GRCm39) |
A19T |
possibly damaging |
Het |
| Cttn |
C |
A |
7: 144,006,324 (GRCm39) |
E214* |
probably null |
Het |
| Des |
A |
G |
1: 75,343,431 (GRCm39) |
E438G |
possibly damaging |
Het |
| Dnaja4 |
T |
C |
9: 54,615,679 (GRCm39) |
V109A |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,765,132 (GRCm39) |
E1708G |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,229,934 (GRCm39) |
I2184T |
probably benign |
Het |
| Enc1 |
C |
T |
13: 97,381,628 (GRCm39) |
T46I |
possibly damaging |
Het |
| Etaa1 |
A |
G |
11: 17,896,108 (GRCm39) |
S670P |
probably damaging |
Het |
| Fam168b |
G |
A |
1: 34,858,789 (GRCm39) |
T131M |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,201,460 (GRCm39) |
V1319E |
probably damaging |
Het |
| Fcrl1 |
T |
A |
3: 87,296,957 (GRCm39) |
V302E |
probably benign |
Het |
| Fgfr3 |
G |
C |
5: 33,892,785 (GRCm39) |
E744Q |
probably null |
Het |
| Gmps |
T |
A |
3: 63,922,960 (GRCm39) |
I641N |
probably damaging |
Het |
| Gpc2 |
T |
A |
5: 138,276,670 (GRCm39) |
Y152F |
probably damaging |
Het |
| Herc2 |
G |
A |
7: 55,756,201 (GRCm39) |
R747H |
possibly damaging |
Het |
| Herc2 |
A |
G |
7: 55,782,228 (GRCm39) |
D1305G |
probably damaging |
Het |
| Ighv1-37 |
T |
C |
12: 114,860,252 (GRCm39) |
T14A |
probably benign |
Het |
| Insr |
T |
A |
8: 3,211,372 (GRCm39) |
M1156L |
possibly damaging |
Het |
| Kirrel2 |
C |
A |
7: 30,154,731 (GRCm39) |
G127C |
probably damaging |
Het |
| Krt10 |
T |
C |
11: 99,276,456 (GRCm39) |
N65S |
possibly damaging |
Het |
| Lrig3 |
A |
G |
10: 125,850,738 (GRCm39) |
I1101M |
possibly damaging |
Het |
| Lrrc55 |
T |
G |
2: 85,022,274 (GRCm39) |
N306H |
probably benign |
Het |
| Map4k3 |
A |
G |
17: 80,944,161 (GRCm39) |
S329P |
probably damaging |
Het |
| Mapkap1 |
T |
G |
2: 34,322,122 (GRCm39) |
H13Q |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,315,594 (GRCm39) |
L60S |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,570,817 (GRCm39) |
M626L |
probably benign |
Het |
| Mycbp2 |
C |
T |
14: 103,444,117 (GRCm39) |
V1914I |
possibly damaging |
Het |
| Myo5b |
T |
C |
18: 74,786,432 (GRCm39) |
F442L |
possibly damaging |
Het |
| Naa35 |
T |
A |
13: 59,775,757 (GRCm39) |
M545K |
probably benign |
Het |
| Nrxn2 |
T |
A |
19: 6,531,275 (GRCm39) |
V645E |
probably damaging |
Het |
| Or52z14 |
A |
G |
7: 103,252,875 (GRCm39) |
T5A |
probably benign |
Het |
| Or5af2 |
T |
C |
11: 58,707,939 (GRCm39) |
F35S |
probably damaging |
Het |
| Otx1 |
A |
T |
11: 21,946,615 (GRCm39) |
Y231* |
probably null |
Het |
| Pcdhb19 |
A |
G |
18: 37,630,211 (GRCm39) |
E2G |
probably benign |
Het |
| Pik3c2a |
G |
A |
7: 116,017,223 (GRCm39) |
T178I |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,214,643 (GRCm39) |
S613P |
probably damaging |
Het |
| Pon1 |
T |
G |
6: 5,168,345 (GRCm39) |
D354A |
probably benign |
Het |
| Rbm17 |
T |
G |
2: 11,595,504 (GRCm39) |
M234L |
probably benign |
Het |
| Rex1bd |
T |
C |
8: 70,958,555 (GRCm39) |
S71G |
probably benign |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Samd7 |
G |
C |
3: 30,805,272 (GRCm39) |
K18N |
probably benign |
Het |
| Shank1 |
A |
G |
7: 43,994,337 (GRCm39) |
I833V |
unknown |
Het |
| Slc35f1 |
C |
A |
10: 52,898,007 (GRCm39) |
D139E |
probably benign |
Het |
| Spata31d1a |
T |
C |
13: 59,850,907 (GRCm39) |
N407S |
probably benign |
Het |
| Spata31d1d |
T |
A |
13: 59,879,429 (GRCm39) |
I36F |
probably benign |
Het |
| Sstr4 |
T |
A |
2: 148,238,169 (GRCm39) |
M260K |
probably damaging |
Het |
| Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
| Trat1 |
A |
G |
16: 48,574,634 (GRCm39) |
Y55H |
probably damaging |
Het |
| Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
| Vcan |
T |
C |
13: 89,828,075 (GRCm39) |
T3124A |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,821,074 (GRCm39) |
F1385Y |
possibly damaging |
Het |
| Xrcc3 |
T |
C |
12: 111,778,530 (GRCm39) |
D7G |
probably damaging |
Het |
|
| Other mutations in Prtg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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 |
|
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'- TGGCTACCATAAATGCTAATGAAG -3'
(R):5'- TCTCTCCCAAGCCAGAAGG -3'
Sequencing Primer
(F):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'
(R):5'- GATAGCAGAGCTCGACATGGTCTC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation