Incidental Mutation 'IGL02683:Prrc2a'
| ID |
303427 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prrc2a
|
| Ensembl Gene |
ENSMUSG00000024393 |
| Gene Name |
proline-rich coiled-coil 2A |
| Synonyms |
3110039B05Rik, D17H6S51E, Wbp12, G2, Bat2, Bat-2 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.870)
|
| Stock # |
IGL02683
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
35368052-35383873 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35374969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1227
(V1227A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025253]
[ENSMUST00000174805]
|
| AlphaFold |
Q7TSC1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025253
AA Change: V1227A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000025253
Gene: ENSMUSG00000024393
AA Change: V1227A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BAT2_N
|
1 |
189 |
1.2e-70 |
PFAM |
|
low complexity region
|
243 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
357 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
413 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
434 |
N/A |
INTRINSIC |
|
coiled coil region
|
455 |
494 |
N/A |
INTRINSIC |
|
low complexity region
|
504 |
523 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
566 |
N/A |
INTRINSIC |
|
low complexity region
|
593 |
618 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
684 |
N/A |
INTRINSIC |
|
low complexity region
|
687 |
709 |
N/A |
INTRINSIC |
|
low complexity region
|
711 |
717 |
N/A |
INTRINSIC |
|
low complexity region
|
755 |
768 |
N/A |
INTRINSIC |
|
low complexity region
|
826 |
833 |
N/A |
INTRINSIC |
|
low complexity region
|
861 |
871 |
N/A |
INTRINSIC |
|
low complexity region
|
882 |
894 |
N/A |
INTRINSIC |
|
low complexity region
|
902 |
924 |
N/A |
INTRINSIC |
|
low complexity region
|
944 |
966 |
N/A |
INTRINSIC |
|
low complexity region
|
1032 |
1070 |
N/A |
INTRINSIC |
|
low complexity region
|
1129 |
1149 |
N/A |
INTRINSIC |
|
low complexity region
|
1162 |
1179 |
N/A |
INTRINSIC |
|
low complexity region
|
1190 |
1211 |
N/A |
INTRINSIC |
|
low complexity region
|
1234 |
1242 |
N/A |
INTRINSIC |
|
low complexity region
|
1285 |
1300 |
N/A |
INTRINSIC |
|
low complexity region
|
1346 |
1360 |
N/A |
INTRINSIC |
|
low complexity region
|
1394 |
1424 |
N/A |
INTRINSIC |
|
low complexity region
|
1430 |
1456 |
N/A |
INTRINSIC |
|
low complexity region
|
1488 |
1511 |
N/A |
INTRINSIC |
|
low complexity region
|
1553 |
1565 |
N/A |
INTRINSIC |
|
low complexity region
|
1693 |
1713 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1810 |
1860 |
5.56e-5 |
PROSPERO |
|
low complexity region
|
1879 |
1895 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1924 |
1983 |
5.56e-5 |
PROSPERO |
|
low complexity region
|
1995 |
2017 |
N/A |
INTRINSIC |
|
low complexity region
|
2019 |
2041 |
N/A |
INTRINSIC |
|
low complexity region
|
2070 |
2086 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172929
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174386
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000174805
AA Change: V1172A
|
| SMART Domains |
Protein: ENSMUSP00000133550
Gene: ENSMUSG00000024393
AA Change: V1172A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BAT2_N
|
1 |
137 |
6.6e-53 |
PFAM |
|
low complexity region
|
188 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
302 |
N/A |
INTRINSIC |
|
low complexity region
|
341 |
358 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
379 |
N/A |
INTRINSIC |
|
coiled coil region
|
400 |
439 |
N/A |
INTRINSIC |
|
low complexity region
|
449 |
468 |
N/A |
INTRINSIC |
|
low complexity region
|
472 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
538 |
563 |
N/A |
INTRINSIC |
|
low complexity region
|
588 |
629 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
654 |
N/A |
INTRINSIC |
|
low complexity region
|
656 |
662 |
N/A |
INTRINSIC |
|
low complexity region
|
700 |
713 |
N/A |
INTRINSIC |
|
low complexity region
|
771 |
778 |
N/A |
INTRINSIC |
|
low complexity region
|
806 |
816 |
N/A |
INTRINSIC |
|
low complexity region
|
827 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
847 |
869 |
N/A |
INTRINSIC |
|
low complexity region
|
889 |
911 |
N/A |
INTRINSIC |
|
low complexity region
|
977 |
1015 |
N/A |
INTRINSIC |
|
low complexity region
|
1074 |
1094 |
N/A |
INTRINSIC |
|
low complexity region
|
1107 |
1124 |
N/A |
INTRINSIC |
|
low complexity region
|
1135 |
1156 |
N/A |
INTRINSIC |
|
low complexity region
|
1179 |
1187 |
N/A |
INTRINSIC |
|
low complexity region
|
1230 |
1245 |
N/A |
INTRINSIC |
|
low complexity region
|
1291 |
1305 |
N/A |
INTRINSIC |
|
low complexity region
|
1339 |
1369 |
N/A |
INTRINSIC |
|
low complexity region
|
1375 |
1401 |
N/A |
INTRINSIC |
|
low complexity region
|
1433 |
1456 |
N/A |
INTRINSIC |
|
low complexity region
|
1498 |
1510 |
N/A |
INTRINSIC |
|
low complexity region
|
1638 |
1658 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1755 |
1804 |
3.99e-5 |
PROSPERO |
|
low complexity region
|
1823 |
1839 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1868 |
1927 |
3.99e-5 |
PROSPERO |
|
low complexity region
|
1939 |
1961 |
N/A |
INTRINSIC |
|
low complexity region
|
1963 |
1985 |
N/A |
INTRINSIC |
|
low complexity region
|
2014 |
2030 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. This gene has microsatellite repeats which are associated with the age-at-onset of insulin-dependent diabetes mellitus (IDDM) and possibly thought to be involved with the inflammatory process of pancreatic beta-cell destruction during the development of IDDM. This gene is also a candidate gene for the development of rheumatoid arthritis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
C |
8: 111,779,163 (GRCm39) |
|
probably benign |
Het |
| Abhd3 |
A |
G |
18: 10,658,790 (GRCm39) |
S215P |
probably damaging |
Het |
| Adam20 |
G |
A |
8: 41,248,621 (GRCm39) |
V244M |
probably damaging |
Het |
| Akr1c21 |
A |
C |
13: 4,626,312 (GRCm39) |
D112A |
probably damaging |
Het |
| Ano6 |
A |
T |
15: 95,846,193 (GRCm39) |
Y498F |
probably damaging |
Het |
| Aspscr1 |
T |
C |
11: 120,592,052 (GRCm39) |
F263S |
probably damaging |
Het |
| Capn11 |
A |
G |
17: 45,964,517 (GRCm39) |
F100S |
probably damaging |
Het |
| Cd63 |
T |
C |
10: 128,746,299 (GRCm39) |
C9R |
probably damaging |
Het |
| Cenpj |
T |
C |
14: 56,790,409 (GRCm39) |
K547E |
possibly damaging |
Het |
| Clasp1 |
A |
G |
1: 118,466,996 (GRCm39) |
D793G |
probably benign |
Het |
| Cmya5 |
G |
A |
13: 93,227,505 (GRCm39) |
Q2528* |
probably null |
Het |
| Crybg1 |
A |
G |
10: 43,865,212 (GRCm39) |
S1422P |
possibly damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dnal1 |
G |
A |
12: 84,185,128 (GRCm39) |
G178D |
probably damaging |
Het |
| E2f7 |
T |
C |
10: 110,618,320 (GRCm39) |
M795T |
probably benign |
Het |
| Glipr1l2 |
T |
C |
10: 111,919,381 (GRCm39) |
V34A |
probably benign |
Het |
| Gsdmc2 |
C |
T |
15: 63,705,261 (GRCm39) |
V151M |
probably damaging |
Het |
| Htr7 |
T |
C |
19: 35,937,762 (GRCm39) |
T448A |
probably benign |
Het |
| Kcnj5 |
T |
C |
9: 32,229,076 (GRCm39) |
T41A |
possibly damaging |
Het |
| Kcnt1 |
T |
C |
2: 25,790,937 (GRCm39) |
M12T |
possibly damaging |
Het |
| Kif1c |
G |
A |
11: 70,617,278 (GRCm39) |
A871T |
possibly damaging |
Het |
| Map3k10 |
T |
C |
7: 27,358,362 (GRCm39) |
K571R |
probably damaging |
Het |
| Med23 |
C |
A |
10: 24,746,615 (GRCm39) |
A45E |
probably benign |
Het |
| Nudt5 |
C |
A |
2: 5,868,412 (GRCm39) |
S103R |
probably damaging |
Het |
| Or9m1 |
T |
A |
2: 87,733,448 (GRCm39) |
T191S |
possibly damaging |
Het |
| Parp3 |
A |
G |
9: 106,350,384 (GRCm39) |
S369P |
possibly damaging |
Het |
| Plxna4 |
A |
T |
6: 32,494,541 (GRCm39) |
L25Q |
probably benign |
Het |
| Pon2 |
A |
G |
6: 5,269,062 (GRCm39) |
V204A |
probably damaging |
Het |
| Ppfia1 |
A |
G |
7: 144,067,095 (GRCm39) |
M463T |
probably damaging |
Het |
| Ppp1r14d |
T |
C |
2: 119,049,303 (GRCm39) |
E95G |
probably damaging |
Het |
| Pramel18 |
T |
C |
4: 101,767,551 (GRCm39) |
S267P |
probably benign |
Het |
| Rabgap1 |
T |
A |
2: 37,392,951 (GRCm39) |
W536R |
probably damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,408,397 (GRCm39) |
N431S |
probably benign |
Het |
| Spen |
C |
T |
4: 141,198,956 (GRCm39) |
V3224I |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Ssh2 |
A |
G |
11: 77,289,082 (GRCm39) |
D88G |
probably damaging |
Het |
| Stat5b |
T |
G |
11: 100,695,772 (GRCm39) |
K70T |
probably benign |
Het |
| Tex44 |
A |
G |
1: 86,355,465 (GRCm39) |
D458G |
probably benign |
Het |
| Tut1 |
T |
A |
19: 8,942,622 (GRCm39) |
C570S |
probably benign |
Het |
| Usp42 |
T |
C |
5: 143,701,101 (GRCm39) |
E974G |
possibly damaging |
Het |
| Vezf1 |
A |
T |
11: 87,967,153 (GRCm39) |
Q310L |
probably benign |
Het |
| Vmn2r83 |
A |
T |
10: 79,327,115 (GRCm39) |
R574S |
probably benign |
Het |
| Zfp664 |
T |
C |
5: 124,963,386 (GRCm39) |
V260A |
probably benign |
Het |
|
| Other mutations in Prrc2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00482:Prrc2a
|
APN |
17 |
35,373,959 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01083:Prrc2a
|
APN |
17 |
35,375,177 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01394:Prrc2a
|
APN |
17 |
35,372,080 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01618:Prrc2a
|
APN |
17 |
35,368,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01700:Prrc2a
|
APN |
17 |
35,369,643 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01937:Prrc2a
|
APN |
17 |
35,374,567 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02407:Prrc2a
|
APN |
17 |
35,379,480 (GRCm39) |
missense |
unknown |
|
|
R0145:Prrc2a
|
UTSW |
17 |
35,374,796 (GRCm39) |
missense |
probably benign |
|
|
R0309:Prrc2a
|
UTSW |
17 |
35,369,891 (GRCm39) |
splice site |
probably benign |
|
|
R0441:Prrc2a
|
UTSW |
17 |
35,368,664 (GRCm39) |
splice site |
probably benign |
|
|
R0617:Prrc2a
|
UTSW |
17 |
35,372,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0645:Prrc2a
|
UTSW |
17 |
35,375,308 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1351:Prrc2a
|
UTSW |
17 |
35,376,863 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1432:Prrc2a
|
UTSW |
17 |
35,372,888 (GRCm39) |
splice site |
probably benign |
|
|
R1490:Prrc2a
|
UTSW |
17 |
35,372,230 (GRCm39) |
missense |
probably benign |
|
|
R1643:Prrc2a
|
UTSW |
17 |
35,375,930 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1734:Prrc2a
|
UTSW |
17 |
35,369,683 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1869:Prrc2a
|
UTSW |
17 |
35,372,284 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1937:Prrc2a
|
UTSW |
17 |
35,376,884 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1995:Prrc2a
|
UTSW |
17 |
35,376,405 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2257:Prrc2a
|
UTSW |
17 |
35,380,044 (GRCm39) |
missense |
unknown |
|
|
R2270:Prrc2a
|
UTSW |
17 |
35,368,512 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3940:Prrc2a
|
UTSW |
17 |
35,376,474 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3973:Prrc2a
|
UTSW |
17 |
35,376,908 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4569:Prrc2a
|
UTSW |
17 |
35,377,473 (GRCm39) |
missense |
unknown |
|
|
R4655:Prrc2a
|
UTSW |
17 |
35,374,590 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4792:Prrc2a
|
UTSW |
17 |
35,375,463 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4797:Prrc2a
|
UTSW |
17 |
35,369,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4798:Prrc2a
|
UTSW |
17 |
35,369,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:Prrc2a
|
UTSW |
17 |
35,369,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5004:Prrc2a
|
UTSW |
17 |
35,368,974 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5129:Prrc2a
|
UTSW |
17 |
35,379,154 (GRCm39) |
missense |
unknown |
|
|
R5155:Prrc2a
|
UTSW |
17 |
35,379,067 (GRCm39) |
splice site |
probably null |
|
|
R5210:Prrc2a
|
UTSW |
17 |
35,372,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5308:Prrc2a
|
UTSW |
17 |
35,380,023 (GRCm39) |
missense |
unknown |
|
|
R5474:Prrc2a
|
UTSW |
17 |
35,378,189 (GRCm39) |
missense |
unknown |
|
|
R5775:Prrc2a
|
UTSW |
17 |
35,377,463 (GRCm39) |
missense |
unknown |
|
|
R5934:Prrc2a
|
UTSW |
17 |
35,369,060 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6057:Prrc2a
|
UTSW |
17 |
35,371,716 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6291:Prrc2a
|
UTSW |
17 |
35,373,909 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6535:Prrc2a
|
UTSW |
17 |
35,381,241 (GRCm39) |
missense |
unknown |
|
|
R6622:Prrc2a
|
UTSW |
17 |
35,374,396 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6887:Prrc2a
|
UTSW |
17 |
35,374,651 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6971:Prrc2a
|
UTSW |
17 |
35,378,477 (GRCm39) |
splice site |
probably null |
|
|
R7026:Prrc2a
|
UTSW |
17 |
35,380,803 (GRCm39) |
missense |
unknown |
|
|
R7059:Prrc2a
|
UTSW |
17 |
35,376,364 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7489:Prrc2a
|
UTSW |
17 |
35,381,330 (GRCm39) |
missense |
unknown |
|
|
R7502:Prrc2a
|
UTSW |
17 |
35,381,286 (GRCm39) |
missense |
unknown |
|
|
R7951:Prrc2a
|
UTSW |
17 |
35,379,477 (GRCm39) |
missense |
unknown |
|
|
R8061:Prrc2a
|
UTSW |
17 |
35,380,162 (GRCm39) |
splice site |
probably benign |
|
|
R8324:Prrc2a
|
UTSW |
17 |
35,375,960 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8705:Prrc2a
|
UTSW |
17 |
35,372,542 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9016:Prrc2a
|
UTSW |
17 |
35,378,844 (GRCm39) |
missense |
unknown |
|
|
R9310:Prrc2a
|
UTSW |
17 |
35,374,975 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9376:Prrc2a
|
UTSW |
17 |
35,369,598 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9645:Prrc2a
|
UTSW |
17 |
35,381,176 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9703:Prrc2a
|
UTSW |
17 |
35,378,320 (GRCm39) |
missense |
unknown |
|
|
X0011:Prrc2a
|
UTSW |
17 |
35,374,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Prrc2a
|
UTSW |
17 |
35,380,336 (GRCm39) |
missense |
unknown |
|
|
Z1177:Prrc2a
|
UTSW |
17 |
35,374,676 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Prrc2a
|
UTSW |
17 |
35,373,791 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2015-04-16 |
Incidental Mutation