Incidental Mutation 'R5350:Pcnx4'
| ID |
423770 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcnx4
|
| Ensembl Gene |
ENSMUSG00000034501 |
| Gene Name |
pecanex homolog 4 |
| Synonyms |
Pcnxl4, 1810048J11Rik |
| MMRRC Submission |
042929-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R5350 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
72583157-72626893 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 72626138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Histidine
at position 1115
(N1115H)
|
| 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: N1115H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038916
Gene: ENSMUSG00000034501
AA Change: N1115H
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222413
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
A |
11: 110,210,622 (GRCm39) |
Q186* |
probably null |
Het |
| Abca9 |
A |
G |
11: 110,006,364 (GRCm39) |
V1247A |
probably benign |
Het |
| Acaca |
A |
T |
11: 84,106,699 (GRCm39) |
M133L |
probably damaging |
Het |
| Acacb |
C |
T |
5: 114,382,612 (GRCm39) |
A2100V |
probably damaging |
Het |
| Adamts16 |
T |
A |
13: 70,901,315 (GRCm39) |
K921* |
probably null |
Het |
| Ankrd55 |
T |
G |
13: 112,472,760 (GRCm39) |
V144G |
probably damaging |
Het |
| Arap3 |
A |
G |
18: 38,115,088 (GRCm39) |
L976P |
probably damaging |
Het |
| Atg2a |
T |
A |
19: 6,301,368 (GRCm39) |
V814E |
probably damaging |
Het |
| Atp2b2 |
A |
T |
6: 113,736,199 (GRCm39) |
M960K |
probably damaging |
Het |
| Bag1 |
C |
T |
4: 40,948,007 (GRCm39) |
G66S |
possibly damaging |
Het |
| Bmp8a |
A |
T |
4: 123,207,088 (GRCm39) |
M391K |
probably damaging |
Het |
| Capns1 |
C |
A |
7: 29,889,551 (GRCm39) |
R216L |
probably damaging |
Het |
| Cdk13 |
T |
C |
13: 17,978,515 (GRCm39) |
|
probably benign |
Het |
| Cmtm3 |
T |
C |
8: 105,070,465 (GRCm39) |
F75L |
probably damaging |
Het |
| Cops4 |
T |
A |
5: 100,666,405 (GRCm39) |
D21E |
possibly damaging |
Het |
| Dach1 |
G |
T |
14: 98,207,395 (GRCm39) |
A318E |
probably damaging |
Het |
| Ddx27 |
A |
G |
2: 166,869,780 (GRCm39) |
|
probably benign |
Het |
| Disp2 |
A |
G |
2: 118,618,056 (GRCm39) |
T201A |
probably benign |
Het |
| Dnah2 |
G |
T |
11: 69,406,862 (GRCm39) |
D214E |
possibly damaging |
Het |
| Dnah7b |
G |
T |
1: 46,272,849 (GRCm39) |
G2326C |
probably benign |
Het |
| Dusp5 |
T |
C |
19: 53,529,665 (GRCm39) |
F356S |
probably damaging |
Het |
| Duxf3 |
C |
A |
10: 58,066,915 (GRCm39) |
S528I |
probably damaging |
Het |
| Ell |
T |
A |
8: 70,992,439 (GRCm39) |
V28E |
probably damaging |
Het |
| Evi5 |
C |
T |
5: 107,963,544 (GRCm39) |
D344N |
probably benign |
Het |
| Fv1 |
G |
T |
4: 147,954,546 (GRCm39) |
V371L |
possibly damaging |
Het |
| Gemin5 |
A |
G |
11: 58,032,412 (GRCm39) |
|
probably null |
Het |
| Glce |
A |
T |
9: 61,967,587 (GRCm39) |
Y521* |
probably null |
Het |
| Grn |
T |
A |
11: 102,327,070 (GRCm39) |
L556Q |
possibly damaging |
Het |
| Icam1 |
C |
A |
9: 20,939,182 (GRCm39) |
Y518* |
probably null |
Het |
| Jag2 |
A |
T |
12: 112,872,542 (GRCm39) |
S1237R |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,421,251 (GRCm39) |
M1K |
probably null |
Het |
| Nbea |
T |
C |
3: 55,926,845 (GRCm39) |
E786G |
probably damaging |
Het |
| Nr4a2 |
A |
G |
2: 57,001,877 (GRCm39) |
M192T |
probably damaging |
Het |
| Or2v2 |
T |
C |
11: 49,003,879 (GRCm39) |
T225A |
probably benign |
Het |
| Or4a73 |
T |
A |
2: 89,421,432 (GRCm39) |
E9V |
possibly damaging |
Het |
| Or52s1b |
T |
A |
7: 102,822,766 (GRCm39) |
H26L |
probably damaging |
Het |
| Or7e169 |
A |
T |
9: 19,757,912 (GRCm39) |
M1K |
probably null |
Het |
| Ppargc1b |
A |
G |
18: 61,442,134 (GRCm39) |
S585P |
possibly damaging |
Het |
| Ppip5k2 |
C |
T |
1: 97,648,853 (GRCm39) |
S1024N |
probably damaging |
Het |
| Prkar1b |
C |
T |
5: 139,092,383 (GRCm39) |
E145K |
probably damaging |
Het |
| Psd3 |
T |
A |
8: 68,361,513 (GRCm39) |
T539S |
probably benign |
Het |
| Rit2 |
A |
G |
18: 31,449,905 (GRCm39) |
V31A |
probably damaging |
Het |
| Rps6kc1 |
G |
A |
1: 190,531,663 (GRCm39) |
P780S |
probably benign |
Het |
| Serpina6 |
G |
T |
12: 103,614,838 (GRCm39) |
T336K |
possibly damaging |
Het |
| Smo |
A |
T |
6: 29,754,466 (GRCm39) |
Q232L |
probably benign |
Het |
| Stx2 |
T |
C |
5: 129,068,155 (GRCm39) |
D184G |
probably damaging |
Het |
| Tmprss11d |
T |
C |
5: 86,486,746 (GRCm39) |
Y48C |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
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 |
|
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 |
|
R8340:Pcnx4
|
UTSW |
12 |
72,613,851 (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'- GTGCAGTTCTGGATTCTAAAGC -3'
(R):5'- TGCCTGCATTTGGATGTCAAAATG -3'
Sequencing Primer
(F):5'- GCTAAGCAACTCATGTGCGTCTG -3'
(R):5'- CACAGATGTATAGGGAGAGGTTTTG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation