Incidental Mutation 'R4755:Pcnx1'
| ID |
357949 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcnx1
|
| Ensembl Gene |
ENSMUSG00000021140 |
| Gene Name |
pecanex 1 |
| Synonyms |
3526401J03Rik, 2900024E21Rik, Pcnx |
| MMRRC Submission |
042033-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4755 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
81906797-82047698 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 81997068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 988
(L988R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021567]
[ENSMUST00000221721]
[ENSMUST00000222005]
|
| AlphaFold |
Q9QYC1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021567
AA Change: L994R
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000021567
Gene: ENSMUSG00000021140
AA Change: L994R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
28 |
50 |
N/A |
INTRINSIC |
|
transmembrane domain
|
52 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
422 |
N/A |
INTRINSIC |
|
low complexity region
|
509 |
525 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
638 |
N/A |
INTRINSIC |
|
low complexity region
|
672 |
692 |
N/A |
INTRINSIC |
|
low complexity region
|
764 |
783 |
N/A |
INTRINSIC |
|
low complexity region
|
817 |
835 |
N/A |
INTRINSIC |
|
low complexity region
|
842 |
853 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
922 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1006 |
1028 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1035 |
1052 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1070 |
1092 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1113 |
1135 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1163 |
1185 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1197 |
1216 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1269 |
1291 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1298 |
1315 |
N/A |
INTRINSIC |
|
Pfam:Pecanex_C
|
1785 |
2011 |
1.6e-118 |
PFAM |
|
low complexity region
|
2125 |
2140 |
N/A |
INTRINSIC |
|
low complexity region
|
2195 |
2202 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000221675
AA Change: L355R
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221721
AA Change: L988R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222005
|
| Meta Mutation Damage Score |
0.4625 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
96% (112/117) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an evolutionarily conserved transmembrane protein similar to the pecanex protein in Drosophila. The fly protein is a component of the Notch signaling pathway, which functions in several developmental processes. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 113 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449A18Rik |
T |
A |
3: 59,733,280 (GRCm39) |
|
noncoding transcript |
Het |
| Aadacl2fm1 |
C |
T |
3: 59,843,735 (GRCm39) |
A143V |
probably benign |
Het |
| Accs |
T |
C |
2: 93,671,682 (GRCm39) |
E236G |
probably damaging |
Het |
| Agrn |
C |
T |
4: 156,257,979 (GRCm39) |
|
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,930,946 (GRCm39) |
I929V |
possibly damaging |
Het |
| Akap5 |
C |
A |
12: 76,374,581 (GRCm39) |
C4* |
probably null |
Het |
| Amotl2 |
A |
T |
9: 102,597,679 (GRCm39) |
H146L |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,594,990 (GRCm39) |
N666S |
probably damaging |
Het |
| Atp10d |
A |
T |
5: 72,403,509 (GRCm39) |
T373S |
probably benign |
Het |
| Bpifb9b |
T |
A |
2: 154,161,614 (GRCm39) |
M582K |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,483,452 (GRCm39) |
|
probably null |
Het |
| Ccdc149 |
A |
G |
5: 52,561,493 (GRCm39) |
V229A |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cdk5rap2 |
A |
G |
4: 70,156,662 (GRCm39) |
S1617P |
probably damaging |
Het |
| Cenpk |
A |
T |
13: 104,367,379 (GRCm39) |
M37L |
probably benign |
Het |
| Cenpk |
A |
T |
13: 104,386,020 (GRCm39) |
H305L |
probably benign |
Het |
| Ces5a |
C |
A |
8: 94,262,305 (GRCm39) |
A11S |
probably benign |
Het |
| Cfap65 |
T |
C |
1: 74,967,520 (GRCm39) |
E186G |
probably damaging |
Het |
| Cfh |
T |
A |
1: 140,016,546 (GRCm39) |
I593F |
probably damaging |
Het |
| Clstn2 |
C |
T |
9: 97,327,726 (GRCm39) |
V961I |
probably benign |
Het |
| Cog5 |
T |
A |
12: 31,919,405 (GRCm39) |
|
probably null |
Het |
| Col4a4 |
T |
C |
1: 82,518,895 (GRCm39) |
D100G |
unknown |
Het |
| Cyp3a41a |
T |
C |
5: 145,652,316 (GRCm39) |
D61G |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,824,809 (GRCm39) |
N655S |
probably benign |
Het |
| Dnai1 |
C |
G |
4: 41,610,269 (GRCm39) |
T295R |
probably damaging |
Het |
| Dnajc6 |
C |
T |
4: 101,407,996 (GRCm39) |
A44V |
probably damaging |
Het |
| Eif4enif1 |
A |
T |
11: 3,194,016 (GRCm39) |
D960V |
probably damaging |
Het |
| Fam167b |
C |
T |
4: 129,472,135 (GRCm39) |
G12R |
probably damaging |
Het |
| Fam20b |
A |
T |
1: 156,515,066 (GRCm39) |
Y266* |
probably null |
Het |
| Fer1l6 |
T |
A |
15: 58,512,060 (GRCm39) |
V1509D |
probably benign |
Het |
| Fhad1 |
A |
T |
4: 141,655,794 (GRCm39) |
I105N |
probably damaging |
Het |
| Fmo2 |
T |
C |
1: 162,716,374 (GRCm39) |
D71G |
probably damaging |
Het |
| Folr2 |
T |
C |
7: 101,493,006 (GRCm39) |
T6A |
possibly damaging |
Het |
| Fry |
A |
C |
5: 150,321,719 (GRCm39) |
E1018A |
probably damaging |
Het |
| Gas2l2 |
A |
G |
11: 83,320,193 (GRCm39) |
I21T |
probably damaging |
Het |
| Gfra1 |
T |
C |
19: 58,441,676 (GRCm39) |
Y85C |
probably damaging |
Het |
| Gpld1 |
A |
T |
13: 25,163,671 (GRCm39) |
Y43F |
probably benign |
Het |
| Gpld1 |
T |
A |
13: 25,163,675 (GRCm39) |
Y44* |
probably null |
Het |
| Grid2 |
A |
G |
6: 63,885,972 (GRCm39) |
T123A |
probably benign |
Het |
| Grina |
T |
C |
15: 76,133,442 (GRCm39) |
L305P |
probably damaging |
Het |
| Gucy1a1 |
G |
A |
3: 82,002,102 (GRCm39) |
A659V |
probably benign |
Het |
| H2-T10 |
T |
A |
17: 36,429,837 (GRCm39) |
K319* |
probably null |
Het |
| Hey2 |
A |
T |
10: 30,710,300 (GRCm39) |
V151E |
probably benign |
Het |
| Ighv1-69 |
G |
A |
12: 115,587,178 (GRCm39) |
T13I |
probably benign |
Het |
| Il1rap |
C |
A |
16: 26,541,532 (GRCm39) |
A591E |
probably benign |
Het |
| Ildr1 |
T |
C |
16: 36,542,383 (GRCm39) |
L261P |
probably benign |
Het |
| Jak1 |
A |
G |
4: 101,031,354 (GRCm39) |
Y463H |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,159,285 (GRCm39) |
I1666V |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 41,361,028 (GRCm39) |
T592S |
probably benign |
Het |
| Lrrc36 |
A |
G |
8: 106,178,776 (GRCm39) |
T445A |
possibly damaging |
Het |
| Ly9 |
G |
A |
1: 171,434,806 (GRCm39) |
S29F |
probably damaging |
Het |
| Mapk7 |
A |
C |
11: 61,381,669 (GRCm39) |
C32W |
probably damaging |
Het |
| Marchf10 |
C |
T |
11: 105,255,302 (GRCm39) |
|
probably benign |
Het |
| Mier2 |
A |
T |
10: 79,385,031 (GRCm39) |
M119K |
probably damaging |
Het |
| Mpv17 |
A |
T |
5: 31,303,326 (GRCm39) |
C59* |
probably null |
Het |
| Mrpl27 |
G |
A |
11: 94,544,659 (GRCm39) |
|
probably benign |
Het |
| Myo18b |
G |
A |
5: 113,022,340 (GRCm39) |
Q351* |
probably null |
Het |
| Myo1a |
A |
G |
10: 127,551,557 (GRCm39) |
I704M |
probably damaging |
Het |
| Nadsyn1 |
A |
G |
7: 143,360,650 (GRCm39) |
C373R |
probably damaging |
Het |
| Nckipsd |
C |
A |
9: 108,691,938 (GRCm39) |
A513E |
probably benign |
Het |
| Neb |
T |
C |
2: 52,110,221 (GRCm39) |
D209G |
probably damaging |
Het |
| Nkapl |
T |
A |
13: 21,652,457 (GRCm39) |
Q52L |
unknown |
Het |
| Nptx2 |
G |
A |
5: 144,483,250 (GRCm39) |
S126N |
probably benign |
Het |
| Or2a7 |
G |
A |
6: 43,150,977 (GRCm39) |
S19N |
probably benign |
Het |
| Or52d3 |
T |
A |
7: 104,229,268 (GRCm39) |
Y138* |
probably null |
Het |
| Or7g17 |
A |
T |
9: 18,768,476 (GRCm39) |
H185L |
probably benign |
Het |
| Or8b52 |
A |
G |
9: 38,577,128 (GRCm39) |
V4A |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,764,362 (GRCm39) |
R4278S |
unknown |
Het |
| Prl2c5 |
C |
A |
13: 13,363,970 (GRCm39) |
N75K |
probably benign |
Het |
| Prpf19 |
T |
G |
19: 10,875,154 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,759,533 (GRCm39) |
S997P |
probably damaging |
Het |
| Rangap1 |
T |
C |
15: 81,597,118 (GRCm39) |
T226A |
probably benign |
Het |
| Rimklb |
G |
A |
6: 122,433,365 (GRCm39) |
L262F |
probably damaging |
Het |
| Rnf169 |
A |
G |
7: 99,574,930 (GRCm39) |
M555T |
probably benign |
Het |
| Rp1l1 |
A |
T |
14: 64,267,519 (GRCm39) |
D1035V |
probably benign |
Het |
| Rps23rg1 |
A |
T |
8: 3,633,922 (GRCm39) |
S8C |
probably damaging |
Het |
| Scd2 |
T |
A |
19: 44,289,791 (GRCm39) |
L262Q |
probably damaging |
Het |
| Scgb2b12 |
T |
A |
7: 32,024,956 (GRCm39) |
M84L |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Sipa1l1 |
G |
A |
12: 82,419,160 (GRCm39) |
V613I |
possibly damaging |
Het |
| Slc25a23 |
T |
A |
17: 57,359,794 (GRCm39) |
D67V |
possibly damaging |
Het |
| Slc25a39 |
C |
T |
11: 102,297,492 (GRCm39) |
|
probably benign |
Het |
| Slc4a10 |
T |
A |
2: 62,127,332 (GRCm39) |
F895Y |
probably damaging |
Het |
| Slc5a4a |
A |
C |
10: 76,022,398 (GRCm39) |
K578Q |
probably benign |
Het |
| Slc6a13 |
G |
A |
6: 121,302,008 (GRCm39) |
G197S |
probably damaging |
Het |
| Smarca2 |
A |
T |
19: 26,631,883 (GRCm39) |
E566V |
possibly damaging |
Het |
| Sorbs3 |
A |
T |
14: 70,421,548 (GRCm39) |
N594K |
probably benign |
Het |
| Spata22 |
A |
T |
11: 73,236,582 (GRCm39) |
D296V |
probably damaging |
Het |
| Sphk2 |
G |
A |
7: 45,363,058 (GRCm39) |
A11V |
possibly damaging |
Het |
| Spp1 |
A |
T |
5: 104,583,081 (GRCm39) |
|
probably benign |
Het |
| Strn3 |
T |
A |
12: 51,656,999 (GRCm39) |
I760L |
possibly damaging |
Het |
| Syk |
A |
T |
13: 52,796,022 (GRCm39) |
Y539F |
probably benign |
Het |
| Tdpoz9-ps1 |
T |
C |
3: 93,846,093 (GRCm39) |
|
probably null |
Het |
| Thsd7b |
T |
A |
1: 130,138,001 (GRCm39) |
Y1560N |
probably benign |
Het |
| Tmod2 |
C |
A |
9: 75,504,494 (GRCm39) |
E42* |
probably null |
Het |
| Tom1l1 |
T |
C |
11: 90,575,942 (GRCm39) |
E30G |
probably damaging |
Het |
| Trav10 |
G |
A |
14: 53,743,518 (GRCm39) |
A40T |
probably benign |
Het |
| Trav14-2 |
G |
A |
14: 53,878,237 (GRCm39) |
|
probably benign |
Het |
| Tril |
T |
A |
6: 53,795,449 (GRCm39) |
E591V |
probably damaging |
Het |
| Trp53bp1 |
T |
A |
2: 121,059,087 (GRCm39) |
R179* |
probably null |
Het |
| Tspoap1 |
A |
T |
11: 87,662,489 (GRCm39) |
D562V |
possibly damaging |
Het |
| Usp44 |
A |
T |
10: 93,682,768 (GRCm39) |
H406L |
probably damaging |
Het |
| Vangl1 |
A |
G |
3: 102,065,608 (GRCm39) |
I509T |
probably benign |
Het |
| Vax2 |
T |
G |
6: 83,688,379 (GRCm39) |
L34W |
probably damaging |
Het |
| Vmn1r55 |
A |
T |
7: 5,150,025 (GRCm39) |
C133S |
probably damaging |
Het |
| Vmn2r8 |
T |
A |
5: 108,949,566 (GRCm39) |
D427V |
probably benign |
Het |
| Vwde |
A |
G |
6: 13,205,851 (GRCm39) |
I232T |
possibly damaging |
Het |
| Wnk1 |
C |
A |
6: 119,940,431 (GRCm39) |
A769S |
probably damaging |
Het |
| Xpo4 |
A |
C |
14: 57,855,638 (GRCm39) |
S264A |
probably benign |
Het |
| Zfp330 |
A |
T |
8: 83,496,015 (GRCm39) |
C75* |
probably null |
Het |
| Zfp526 |
T |
A |
7: 24,925,064 (GRCm39) |
L441Q |
probably benign |
Het |
| Zfp607b |
T |
G |
7: 27,402,930 (GRCm39) |
L462R |
probably damaging |
Het |
| Zfp719 |
T |
A |
7: 43,240,217 (GRCm39) |
F602I |
probably damaging |
Het |
|
| Other mutations in Pcnx1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00164:Pcnx1
|
APN |
12 |
81,941,875 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00561:Pcnx1
|
APN |
12 |
82,042,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01066:Pcnx1
|
APN |
12 |
82,038,795 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01069:Pcnx1
|
APN |
12 |
81,964,918 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01082:Pcnx1
|
APN |
12 |
82,037,372 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01087:Pcnx1
|
APN |
12 |
82,042,113 (GRCm39) |
splice site |
probably benign |
|
|
IGL01145:Pcnx1
|
APN |
12 |
82,038,809 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01412:Pcnx1
|
APN |
12 |
81,953,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01477:Pcnx1
|
APN |
12 |
82,020,015 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01639:Pcnx1
|
APN |
12 |
81,997,094 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01815:Pcnx1
|
APN |
12 |
82,037,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01870:Pcnx1
|
APN |
12 |
82,022,667 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01902:Pcnx1
|
APN |
12 |
82,025,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01935:Pcnx1
|
APN |
12 |
81,964,590 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02141:Pcnx1
|
APN |
12 |
81,907,156 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02179:Pcnx1
|
APN |
12 |
81,980,493 (GRCm39) |
intron |
probably benign |
|
|
IGL02197:Pcnx1
|
APN |
12 |
82,039,925 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02197:Pcnx1
|
APN |
12 |
81,965,878 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02238:Pcnx1
|
APN |
12 |
81,964,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02430:Pcnx1
|
APN |
12 |
81,966,096 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02590:Pcnx1
|
APN |
12 |
82,041,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02992:Pcnx1
|
APN |
12 |
82,010,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03304:Pcnx1
|
APN |
12 |
82,028,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4515001:Pcnx1
|
UTSW |
12 |
82,038,561 (GRCm39) |
missense |
|
|
|
R0086:Pcnx1
|
UTSW |
12 |
82,038,832 (GRCm39) |
unclassified |
probably benign |
|
|
R0114:Pcnx1
|
UTSW |
12 |
82,042,869 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0240:Pcnx1
|
UTSW |
12 |
81,993,792 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0240:Pcnx1
|
UTSW |
12 |
81,993,792 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0376:Pcnx1
|
UTSW |
12 |
82,021,353 (GRCm39) |
splice site |
probably benign |
|
|
R0377:Pcnx1
|
UTSW |
12 |
82,021,353 (GRCm39) |
splice site |
probably benign |
|
|
R0416:Pcnx1
|
UTSW |
12 |
82,021,240 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0514:Pcnx1
|
UTSW |
12 |
82,041,884 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0563:Pcnx1
|
UTSW |
12 |
81,964,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0569:Pcnx1
|
UTSW |
12 |
82,038,804 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0626:Pcnx1
|
UTSW |
12 |
82,030,450 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0972:Pcnx1
|
UTSW |
12 |
81,960,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1205:Pcnx1
|
UTSW |
12 |
82,003,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1455:Pcnx1
|
UTSW |
12 |
82,020,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1514:Pcnx1
|
UTSW |
12 |
81,965,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1731:Pcnx1
|
UTSW |
12 |
82,037,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1758:Pcnx1
|
UTSW |
12 |
82,030,258 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1774:Pcnx1
|
UTSW |
12 |
82,022,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1817:Pcnx1
|
UTSW |
12 |
81,965,416 (GRCm39) |
missense |
probably benign |
|
|
R1843:Pcnx1
|
UTSW |
12 |
82,027,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1862:Pcnx1
|
UTSW |
12 |
81,965,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2042:Pcnx1
|
UTSW |
12 |
81,965,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2054:Pcnx1
|
UTSW |
12 |
81,980,448 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2243:Pcnx1
|
UTSW |
12 |
81,965,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2272:Pcnx1
|
UTSW |
12 |
82,042,088 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2360:Pcnx1
|
UTSW |
12 |
81,996,960 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2926:Pcnx1
|
UTSW |
12 |
82,041,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3607:Pcnx1
|
UTSW |
12 |
81,975,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3781:Pcnx1
|
UTSW |
12 |
82,042,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3782:Pcnx1
|
UTSW |
12 |
82,042,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3806:Pcnx1
|
UTSW |
12 |
81,996,911 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3926:Pcnx1
|
UTSW |
12 |
82,005,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4019:Pcnx1
|
UTSW |
12 |
81,965,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4020:Pcnx1
|
UTSW |
12 |
81,965,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4683:Pcnx1
|
UTSW |
12 |
82,033,446 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4703:Pcnx1
|
UTSW |
12 |
81,941,938 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4732:Pcnx1
|
UTSW |
12 |
82,042,525 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4733:Pcnx1
|
UTSW |
12 |
82,042,525 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4792:Pcnx1
|
UTSW |
12 |
81,965,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4897:Pcnx1
|
UTSW |
12 |
81,964,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Pcnx1
|
UTSW |
12 |
82,021,269 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4934:Pcnx1
|
UTSW |
12 |
82,038,599 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4940:Pcnx1
|
UTSW |
12 |
81,964,567 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5079:Pcnx1
|
UTSW |
12 |
82,025,863 (GRCm39) |
nonsense |
probably null |
|
|
R5087:Pcnx1
|
UTSW |
12 |
82,041,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5284:Pcnx1
|
UTSW |
12 |
81,965,803 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5287:Pcnx1
|
UTSW |
12 |
82,028,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5436:Pcnx1
|
UTSW |
12 |
81,907,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5505:Pcnx1
|
UTSW |
12 |
81,996,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5538:Pcnx1
|
UTSW |
12 |
81,907,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5632:Pcnx1
|
UTSW |
12 |
81,964,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5642:Pcnx1
|
UTSW |
12 |
81,941,803 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R5841:Pcnx1
|
UTSW |
12 |
81,965,429 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6275:Pcnx1
|
UTSW |
12 |
81,965,381 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6508:Pcnx1
|
UTSW |
12 |
81,959,479 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6532:Pcnx1
|
UTSW |
12 |
82,027,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6634:Pcnx1
|
UTSW |
12 |
81,964,656 (GRCm39) |
nonsense |
probably null |
|
|
R6753:Pcnx1
|
UTSW |
12 |
82,011,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6776:Pcnx1
|
UTSW |
12 |
82,009,496 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6778:Pcnx1
|
UTSW |
12 |
81,965,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6890:Pcnx1
|
UTSW |
12 |
82,018,150 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6894:Pcnx1
|
UTSW |
12 |
82,034,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6927:Pcnx1
|
UTSW |
12 |
81,964,586 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7173:Pcnx1
|
UTSW |
12 |
81,999,777 (GRCm39) |
splice site |
probably null |
|
|
R7196:Pcnx1
|
UTSW |
12 |
82,042,312 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7316:Pcnx1
|
UTSW |
12 |
82,042,323 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7559:Pcnx1
|
UTSW |
12 |
82,039,896 (GRCm39) |
missense |
unknown |
|
|
R7635:Pcnx1
|
UTSW |
12 |
81,965,899 (GRCm39) |
missense |
|
|
|
R7669:Pcnx1
|
UTSW |
12 |
82,037,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8021:Pcnx1
|
UTSW |
12 |
81,965,593 (GRCm39) |
nonsense |
probably null |
|
|
R8049:Pcnx1
|
UTSW |
12 |
81,965,593 (GRCm39) |
nonsense |
probably null |
|
|
R8078:Pcnx1
|
UTSW |
12 |
82,022,054 (GRCm39) |
missense |
|
|
|
R8093:Pcnx1
|
UTSW |
12 |
81,965,593 (GRCm39) |
nonsense |
probably null |
|
|
R8104:Pcnx1
|
UTSW |
12 |
82,030,385 (GRCm39) |
nonsense |
probably null |
|
|
R8108:Pcnx1
|
UTSW |
12 |
81,965,593 (GRCm39) |
nonsense |
probably null |
|
|
R8109:Pcnx1
|
UTSW |
12 |
81,965,593 (GRCm39) |
nonsense |
probably null |
|
|
R8131:Pcnx1
|
UTSW |
12 |
81,965,292 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8136:Pcnx1
|
UTSW |
12 |
81,964,780 (GRCm39) |
missense |
probably benign |
|
|
R8153:Pcnx1
|
UTSW |
12 |
81,965,593 (GRCm39) |
nonsense |
probably null |
|
|
R8156:Pcnx1
|
UTSW |
12 |
81,965,593 (GRCm39) |
nonsense |
probably null |
|
|
R8202:Pcnx1
|
UTSW |
12 |
81,941,821 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8362:Pcnx1
|
UTSW |
12 |
82,013,830 (GRCm39) |
missense |
|
|
|
R8515:Pcnx1
|
UTSW |
12 |
82,009,490 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8803:Pcnx1
|
UTSW |
12 |
82,039,925 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8820:Pcnx1
|
UTSW |
12 |
82,020,022 (GRCm39) |
missense |
|
|
|
R8828:Pcnx1
|
UTSW |
12 |
82,042,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8946:Pcnx1
|
UTSW |
12 |
82,018,158 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8964:Pcnx1
|
UTSW |
12 |
82,039,812 (GRCm39) |
missense |
|
|
|
R9152:Pcnx1
|
UTSW |
12 |
82,022,589 (GRCm39) |
missense |
|
|
|
R9256:Pcnx1
|
UTSW |
12 |
82,020,047 (GRCm39) |
missense |
|
|
|
R9287:Pcnx1
|
UTSW |
12 |
82,042,323 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9289:Pcnx1
|
UTSW |
12 |
82,028,853 (GRCm39) |
missense |
|
|
|
R9414:Pcnx1
|
UTSW |
12 |
81,964,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9445:Pcnx1
|
UTSW |
12 |
81,964,981 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9595:Pcnx1
|
UTSW |
12 |
81,965,688 (GRCm39) |
missense |
|
|
|
R9600:Pcnx1
|
UTSW |
12 |
82,030,435 (GRCm39) |
missense |
|
|
|
R9620:Pcnx1
|
UTSW |
12 |
81,996,960 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF024:Pcnx1
|
UTSW |
12 |
81,964,501 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Pcnx1
|
UTSW |
12 |
81,965,451 (GRCm39) |
missense |
|
|
|
Z1177:Pcnx1
|
UTSW |
12 |
81,964,976 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATTTACAAGCTGAGGAACTTAGG -3'
(R):5'- GCTCCGTTACTGTAAGTCTGC -3'
Sequencing Primer
(F):5'- CCCACAGATTCGGTTGAATAGACTG -3'
(R):5'- ACTGTAAGTCTGCTCTCAAGAGG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation