Incidental Mutation 'R8340:Pcnx4'
| ID |
644854 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcnx4
|
| Ensembl Gene |
ENSMUSG00000034501 |
| Gene Name |
pecanex homolog 4 |
| Synonyms |
Pcnxl4, 1810048J11Rik |
| MMRRC Submission |
067864-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R8340 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
72583157-72626893 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72613851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 599
(S599P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038916
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044352]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044352
AA Change: S599P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038916
Gene: ENSMUSG00000034501
AA Change: S599P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
43 |
65 |
N/A |
INTRINSIC |
|
transmembrane domain
|
75 |
97 |
N/A |
INTRINSIC |
|
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
|
transmembrane domain
|
174 |
196 |
N/A |
INTRINSIC |
|
transmembrane domain
|
247 |
264 |
N/A |
INTRINSIC |
|
transmembrane domain
|
296 |
330 |
N/A |
INTRINSIC |
|
transmembrane domain
|
368 |
390 |
N/A |
INTRINSIC |
|
transmembrane domain
|
400 |
417 |
N/A |
INTRINSIC |
|
transmembrane domain
|
454 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
489 |
N/A |
INTRINSIC |
|
transmembrane domain
|
546 |
564 |
N/A |
INTRINSIC |
|
transmembrane domain
|
577 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
657 |
670 |
N/A |
INTRINSIC |
|
low complexity region
|
801 |
813 |
N/A |
INTRINSIC |
|
Pfam:Pecanex_C
|
999 |
1174 |
4.2e-28 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110040N11Rik |
C |
T |
7: 81,435,839 (GRCm39) |
V91M |
probably damaging |
Het |
| Actr2 |
A |
G |
11: 20,044,435 (GRCm39) |
V57A |
possibly damaging |
Het |
| Aoah |
A |
G |
13: 21,184,112 (GRCm39) |
Y392C |
probably damaging |
Het |
| Armc6 |
T |
G |
8: 70,673,502 (GRCm39) |
N407T |
probably damaging |
Het |
| BC024139 |
A |
G |
15: 76,005,670 (GRCm39) |
V484A |
probably benign |
Het |
| Bdp1 |
A |
G |
13: 100,202,476 (GRCm39) |
V716A |
possibly damaging |
Het |
| C2cd2 |
T |
C |
16: 97,670,013 (GRCm39) |
E550G |
probably benign |
Het |
| Cbl |
A |
G |
9: 44,070,297 (GRCm39) |
S512P |
possibly damaging |
Het |
| Chac2 |
C |
G |
11: 30,927,511 (GRCm39) |
G136A |
probably damaging |
Het |
| Crhr2 |
C |
T |
6: 55,079,831 (GRCm39) |
V170M |
probably damaging |
Het |
| Cyp2c54 |
T |
A |
19: 40,060,831 (GRCm39) |
D104V |
possibly damaging |
Het |
| Dhtkd1 |
T |
A |
2: 5,924,408 (GRCm39) |
S402C |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,876,856 (GRCm39) |
I4099V |
unknown |
Het |
| Etv3 |
A |
G |
3: 87,443,856 (GRCm39) |
D480G |
possibly damaging |
Het |
| Fam186b |
A |
T |
15: 99,177,595 (GRCm39) |
I577K |
probably benign |
Het |
| Foxe1 |
T |
C |
4: 46,344,437 (GRCm39) |
Y82H |
possibly damaging |
Het |
| Gsdma |
T |
A |
11: 98,557,421 (GRCm39) |
V120E |
probably benign |
Het |
| Insig2 |
A |
T |
1: 121,234,946 (GRCm39) |
S153R |
probably damaging |
Het |
| Isx |
T |
A |
8: 75,616,688 (GRCm39) |
I105N |
probably damaging |
Het |
| Klra4 |
T |
A |
6: 130,042,257 (GRCm39) |
E3D |
probably benign |
Het |
| Mkln1 |
G |
T |
6: 31,409,878 (GRCm39) |
R172L |
possibly damaging |
Het |
| Myrf |
A |
T |
19: 10,192,705 (GRCm39) |
S605T |
probably benign |
Het |
| Nell1 |
T |
A |
7: 49,870,021 (GRCm39) |
D232E |
probably damaging |
Het |
| Nemf |
T |
G |
12: 69,400,659 (GRCm39) |
T139P |
possibly damaging |
Het |
| Nrdc |
A |
C |
4: 108,858,351 (GRCm39) |
K108Q |
probably damaging |
Het |
| Or10c1 |
G |
T |
17: 37,522,075 (GRCm39) |
T223N |
possibly damaging |
Het |
| Or14j3 |
T |
C |
17: 37,901,034 (GRCm39) |
D70G |
probably damaging |
Het |
| Or3a10 |
G |
T |
11: 73,935,851 (GRCm39) |
P83Q |
probably damaging |
Het |
| Plscr2 |
A |
G |
9: 92,173,130 (GRCm39) |
N224S |
probably benign |
Het |
| Poln |
A |
G |
5: 34,307,118 (GRCm39) |
S28P |
probably damaging |
Het |
| Prr36 |
A |
G |
8: 4,264,224 (GRCm39) |
S481P |
unknown |
Het |
| Scrn1 |
G |
A |
6: 54,511,518 (GRCm39) |
A74V |
possibly damaging |
Het |
| Slc22a22 |
T |
A |
15: 57,127,086 (GRCm39) |
|
probably null |
Het |
| Srpra |
A |
G |
9: 35,127,102 (GRCm39) |
D592G |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,926,036 (GRCm39) |
N915D |
probably damaging |
Het |
| Trpm2 |
T |
A |
10: 77,759,458 (GRCm39) |
K1109* |
probably null |
Het |
| Tsks |
C |
T |
7: 44,602,144 (GRCm39) |
R287W |
probably damaging |
Het |
| Ush1c |
T |
G |
7: 45,860,630 (GRCm39) |
M456L |
probably benign |
Het |
| Usp38 |
A |
G |
8: 81,712,031 (GRCm39) |
V668A |
probably benign |
Het |
| Vmn2r117 |
T |
A |
17: 23,679,511 (GRCm39) |
Q571L |
probably benign |
Het |
| Vmn2r13 |
A |
T |
5: 109,322,006 (GRCm39) |
D230E |
probably benign |
Het |
| Vmn2r25 |
C |
T |
6: 123,829,972 (GRCm39) |
G60S |
probably benign |
Het |
| Vmn2r82 |
A |
G |
10: 79,217,036 (GRCm39) |
D456G |
probably benign |
Het |
| Zfp738 |
A |
C |
13: 67,819,231 (GRCm39) |
H253Q |
probably damaging |
Het |
|
| Other mutations in Pcnx4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00592:Pcnx4
|
APN |
12 |
72,626,139 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01160:Pcnx4
|
APN |
12 |
72,626,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01385:Pcnx4
|
APN |
12 |
72,620,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01452:Pcnx4
|
APN |
12 |
72,621,174 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL01984:Pcnx4
|
APN |
12 |
72,621,183 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02073:Pcnx4
|
APN |
12 |
72,621,102 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02726:Pcnx4
|
APN |
12 |
72,620,986 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02824:Pcnx4
|
APN |
12 |
72,602,345 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0007:Pcnx4
|
UTSW |
12 |
72,602,353 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0158:Pcnx4
|
UTSW |
12 |
72,603,076 (GRCm39) |
missense |
probably benign |
|
|
R0575:Pcnx4
|
UTSW |
12 |
72,614,010 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0783:Pcnx4
|
UTSW |
12 |
72,622,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1420:Pcnx4
|
UTSW |
12 |
72,602,760 (GRCm39) |
missense |
probably benign |
|
|
R1497:Pcnx4
|
UTSW |
12 |
72,621,174 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2093:Pcnx4
|
UTSW |
12 |
72,626,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2241:Pcnx4
|
UTSW |
12 |
72,620,928 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2287:Pcnx4
|
UTSW |
12 |
72,622,172 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2418:Pcnx4
|
UTSW |
12 |
72,603,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2437:Pcnx4
|
UTSW |
12 |
72,588,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2509:Pcnx4
|
UTSW |
12 |
72,613,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2510:Pcnx4
|
UTSW |
12 |
72,613,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2512:Pcnx4
|
UTSW |
12 |
72,603,573 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3691:Pcnx4
|
UTSW |
12 |
72,620,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3760:Pcnx4
|
UTSW |
12 |
72,613,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3949:Pcnx4
|
UTSW |
12 |
72,603,076 (GRCm39) |
missense |
probably benign |
|
|
R4065:Pcnx4
|
UTSW |
12 |
72,603,134 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4757:Pcnx4
|
UTSW |
12 |
72,603,067 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4804:Pcnx4
|
UTSW |
12 |
72,620,976 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4867:Pcnx4
|
UTSW |
12 |
72,620,726 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4879:Pcnx4
|
UTSW |
12 |
72,613,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5108:Pcnx4
|
UTSW |
12 |
72,620,855 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5350:Pcnx4
|
UTSW |
12 |
72,626,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5504:Pcnx4
|
UTSW |
12 |
72,621,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5718:Pcnx4
|
UTSW |
12 |
72,613,968 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5943:Pcnx4
|
UTSW |
12 |
72,626,232 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6195:Pcnx4
|
UTSW |
12 |
72,603,648 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7134:Pcnx4
|
UTSW |
12 |
72,613,750 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7695:Pcnx4
|
UTSW |
12 |
72,588,350 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7837:Pcnx4
|
UTSW |
12 |
72,602,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7850:Pcnx4
|
UTSW |
12 |
72,602,842 (GRCm39) |
missense |
probably benign |
|
|
R8153:Pcnx4
|
UTSW |
12 |
72,603,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8174:Pcnx4
|
UTSW |
12 |
72,603,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8322:Pcnx4
|
UTSW |
12 |
72,603,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8399:Pcnx4
|
UTSW |
12 |
72,620,985 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8545:Pcnx4
|
UTSW |
12 |
72,602,856 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9018:Pcnx4
|
UTSW |
12 |
72,603,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9145:Pcnx4
|
UTSW |
12 |
72,603,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9149:Pcnx4
|
UTSW |
12 |
72,613,671 (GRCm39) |
missense |
probably benign |
|
|
R9233:Pcnx4
|
UTSW |
12 |
72,603,587 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9378:Pcnx4
|
UTSW |
12 |
72,602,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9503:Pcnx4
|
UTSW |
12 |
72,588,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9619:Pcnx4
|
UTSW |
12 |
72,622,282 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9670:Pcnx4
|
UTSW |
12 |
72,613,792 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9719:Pcnx4
|
UTSW |
12 |
72,603,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9722:Pcnx4
|
UTSW |
12 |
72,603,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9723:Pcnx4
|
UTSW |
12 |
72,603,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCTGTCCCCTCAAAATACTG -3'
(R):5'- TTAGGCCCAGCTTACCACTC -3'
Sequencing Primer
(F):5'- GTATCCACAGATCGGTATCATGCG -3'
(R):5'- TAAACTTCCCGCCGCCATG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation