Incidental Mutation 'R6343:Padi3'
| ID |
513991 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Padi3
|
| Ensembl Gene |
ENSMUSG00000025328 |
| Gene Name |
peptidyl arginine deiminase, type III |
| Synonyms |
Pdi3, Pad3, PAD type III |
| MMRRC Submission |
044497-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6343 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
140512680-140537959 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 140530819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 68
(V68I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026377]
[ENSMUST00000172098]
|
| AlphaFold |
Q9Z184 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026377
AA Change: V78I
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000026377
Gene: ENSMUSG00000025328
AA Change: V78I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAD_N
|
1 |
113 |
2.1e-38 |
PFAM |
|
Pfam:PAD_M
|
115 |
273 |
4.2e-61 |
PFAM |
|
Pfam:PAD
|
283 |
661 |
2.3e-169 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172098
AA Change: V68I
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000130721
Gene: ENSMUSG00000025328
AA Change: V68I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAD_N
|
14 |
103 |
3.9e-29 |
PFAM |
|
Pfam:PAD_M
|
105 |
263 |
2.9e-69 |
PFAM |
|
Pfam:PAD
|
268 |
654 |
5.3e-226 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (51/51) |
| 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 peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type III enzyme modulates hair structural proteins, such as filaggrin in the hair follicle and trichohyalin in the inner root sheath, during hair follicle formation. Together with the type I enzyme, this enzyme may also play a role in terminal differentiation of the epidermis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit alterations in coat/ hair and vibrissa morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
T |
11: 110,205,378 (GRCm39) |
L301Q |
probably damaging |
Het |
| Adgrl4 |
T |
C |
3: 151,223,443 (GRCm39) |
L632P |
probably damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,527,562 (GRCm39) |
I539N |
probably benign |
Het |
| Camta1 |
T |
A |
4: 151,164,306 (GRCm39) |
H314L |
probably damaging |
Het |
| Car2 |
T |
C |
3: 14,953,025 (GRCm39) |
S56P |
probably damaging |
Het |
| Chrm5 |
G |
A |
2: 112,309,793 (GRCm39) |
A441V |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,426,819 (GRCm39) |
N1380K |
possibly damaging |
Het |
| Cspg4 |
T |
C |
9: 56,799,976 (GRCm39) |
V1580A |
probably benign |
Het |
| Dcc |
A |
G |
18: 71,469,106 (GRCm39) |
L1099P |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Epha5 |
A |
T |
5: 84,254,606 (GRCm39) |
H644Q |
probably damaging |
Het |
| Eya3 |
T |
C |
4: 132,400,221 (GRCm39) |
I80T |
probably damaging |
Het |
| Fdft1 |
A |
T |
14: 63,388,721 (GRCm39) |
Y304N |
probably damaging |
Het |
| Fiz1 |
C |
T |
7: 5,011,400 (GRCm39) |
A373T |
possibly damaging |
Het |
| Gpatch2l |
T |
A |
12: 86,307,379 (GRCm39) |
Y252* |
probably null |
Het |
| Hivep1 |
G |
T |
13: 42,313,147 (GRCm39) |
G1796* |
probably null |
Het |
| Irf8 |
T |
C |
8: 121,480,446 (GRCm39) |
V228A |
probably damaging |
Het |
| Islr |
A |
C |
9: 58,064,379 (GRCm39) |
V376G |
probably damaging |
Het |
| Kdm5a |
T |
C |
6: 120,359,894 (GRCm39) |
V230A |
probably benign |
Het |
| Lpgat1 |
A |
G |
1: 191,508,684 (GRCm39) |
|
probably null |
Het |
| Lrp8 |
T |
C |
4: 107,726,353 (GRCm39) |
|
probably null |
Het |
| Lyzl4 |
A |
C |
9: 121,407,150 (GRCm39) |
S127A |
possibly damaging |
Het |
| Map4k1 |
T |
C |
7: 28,699,715 (GRCm39) |
V606A |
possibly damaging |
Het |
| Mau2 |
T |
A |
8: 70,484,173 (GRCm39) |
K138N |
probably damaging |
Het |
| Meikin |
T |
C |
11: 54,261,592 (GRCm39) |
L33P |
probably damaging |
Het |
| Mrpl28 |
T |
C |
17: 26,345,252 (GRCm39) |
V224A |
probably benign |
Het |
| Ncdn |
T |
C |
4: 126,640,964 (GRCm39) |
D512G |
possibly damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,303,925 (GRCm39) |
Q200L |
possibly damaging |
Het |
| Nup98 |
T |
C |
7: 101,843,957 (GRCm39) |
N89S |
possibly damaging |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or14a258 |
T |
A |
7: 86,035,059 (GRCm39) |
R270* |
probably null |
Het |
| Or52p2 |
A |
G |
7: 102,237,753 (GRCm39) |
C66R |
probably damaging |
Het |
| Or5b12 |
G |
T |
19: 12,896,946 (GRCm39) |
H242Q |
probably damaging |
Het |
| Or6c201 |
A |
T |
10: 128,969,535 (GRCm39) |
L34* |
probably null |
Het |
| Pign |
A |
T |
1: 105,512,820 (GRCm39) |
M621K |
probably benign |
Het |
| Pigv |
C |
T |
4: 133,392,547 (GRCm39) |
V208M |
probably damaging |
Het |
| Ripk4 |
A |
G |
16: 97,564,726 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
A |
G |
7: 97,310,124 (GRCm39) |
K285E |
probably benign |
Het |
| Serpina3k |
G |
C |
12: 104,311,562 (GRCm39) |
G380A |
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,365,426 (GRCm39) |
|
probably null |
Het |
| Srrd |
G |
C |
5: 112,487,866 (GRCm39) |
A104G |
probably benign |
Het |
| Tbp |
T |
A |
17: 15,721,351 (GRCm39) |
|
probably null |
Het |
| Tecrl |
G |
A |
5: 83,442,447 (GRCm39) |
H209Y |
probably damaging |
Het |
| Tmprss11c |
A |
G |
5: 86,404,204 (GRCm39) |
L157P |
probably damaging |
Het |
| Tmprss13 |
A |
T |
9: 45,254,498 (GRCm39) |
T422S |
possibly damaging |
Het |
| Ttll5 |
A |
G |
12: 86,003,473 (GRCm39) |
H1103R |
probably benign |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,223,049 (GRCm39) |
Y699C |
probably damaging |
Het |
| Vmn1r22 |
T |
G |
6: 57,877,563 (GRCm39) |
N138T |
possibly damaging |
Het |
|
| Other mutations in Padi3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00482:Padi3
|
APN |
4 |
140,530,935 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL00948:Padi3
|
APN |
4 |
140,516,254 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL00949:Padi3
|
APN |
4 |
140,516,254 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01021:Padi3
|
APN |
4 |
140,523,645 (GRCm39) |
splice site |
probably benign |
|
|
IGL02400:Padi3
|
APN |
4 |
140,516,179 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02449:Padi3
|
APN |
4 |
140,517,023 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02600:Padi3
|
APN |
4 |
140,525,467 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03342:Padi3
|
APN |
4 |
140,537,909 (GRCm39) |
nonsense |
probably null |
|
|
FR4304:Padi3
|
UTSW |
4 |
140,520,283 (GRCm39) |
critical splice donor site |
probably benign |
|
|
PIT4544001:Padi3
|
UTSW |
4 |
140,518,794 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0455:Padi3
|
UTSW |
4 |
140,523,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0743:Padi3
|
UTSW |
4 |
140,513,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1279:Padi3
|
UTSW |
4 |
140,530,888 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2081:Padi3
|
UTSW |
4 |
140,526,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3016:Padi3
|
UTSW |
4 |
140,513,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3853:Padi3
|
UTSW |
4 |
140,518,580 (GRCm39) |
splice site |
probably benign |
|
|
R4599:Padi3
|
UTSW |
4 |
140,525,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4909:Padi3
|
UTSW |
4 |
140,522,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5370:Padi3
|
UTSW |
4 |
140,537,849 (GRCm39) |
nonsense |
probably null |
|
|
R5482:Padi3
|
UTSW |
4 |
140,523,154 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6084:Padi3
|
UTSW |
4 |
140,523,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6151:Padi3
|
UTSW |
4 |
140,523,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6277:Padi3
|
UTSW |
4 |
140,518,472 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6749:Padi3
|
UTSW |
4 |
140,523,164 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7096:Padi3
|
UTSW |
4 |
140,527,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7403:Padi3
|
UTSW |
4 |
140,527,430 (GRCm39) |
missense |
probably benign |
|
|
R7798:Padi3
|
UTSW |
4 |
140,513,750 (GRCm39) |
missense |
probably benign |
|
|
R7818:Padi3
|
UTSW |
4 |
140,525,453 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8375:Padi3
|
UTSW |
4 |
140,525,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8887:Padi3
|
UTSW |
4 |
140,523,795 (GRCm39) |
nonsense |
probably null |
|
|
R9036:Padi3
|
UTSW |
4 |
140,523,004 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9339:Padi3
|
UTSW |
4 |
140,522,928 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9403:Padi3
|
UTSW |
4 |
140,537,843 (GRCm39) |
missense |
probably benign |
|
|
RF025:Padi3
|
UTSW |
4 |
140,520,283 (GRCm39) |
critical splice donor site |
probably benign |
|
|
RF032:Padi3
|
UTSW |
4 |
140,520,283 (GRCm39) |
critical splice donor site |
probably benign |
|
|
RF040:Padi3
|
UTSW |
4 |
140,520,283 (GRCm39) |
critical splice donor site |
probably benign |
|
|
RF043:Padi3
|
UTSW |
4 |
140,520,283 (GRCm39) |
critical splice donor site |
probably benign |
|
|
Z1176:Padi3
|
UTSW |
4 |
140,525,434 (GRCm39) |
missense |
not run |
|
|
Z1176:Padi3
|
UTSW |
4 |
140,522,982 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1177:Padi3
|
UTSW |
4 |
140,525,434 (GRCm39) |
missense |
not run |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCCAGCACTTGTAAGTTGTAG -3'
(R):5'- TTCCCAGAGCTTGCTGTGAG -3'
Sequencing Primer
(F):5'- AAGTTGTAGAATTGGGGTTCACACC -3'
(R):5'- TGAGCTCCCATGTCTGAGGAAG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation