Incidental Mutation 'R3973:Prrc2a'
| ID |
312963 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prrc2a
|
| Ensembl Gene |
ENSMUSG00000024393 |
| Gene Name |
proline-rich coiled-coil 2A |
| Synonyms |
3110039B05Rik, D17H6S51E, Wbp12, G2, Bat2, Bat-2 |
| MMRRC Submission |
040841-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.870)
|
| Stock # |
R3973 (G1)
|
| Quality Score |
157 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35368052-35383873 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35376908 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 734
(L734P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025253]
[ENSMUST00000174805]
|
| AlphaFold |
Q7TSC1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025253
AA Change: L734P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000025253
Gene: ENSMUSG00000024393
AA Change: L734P
| 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: ENSMUST00000082919
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172929
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174386
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174805
AA Change: L679P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000133550
Gene: ENSMUSG00000024393
AA Change: L679P
| 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 |
|
| Meta Mutation Damage Score |
0.2545 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
| Validation Efficiency |
98% (61/62) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
T |
C |
4: 148,029,488 (GRCm39) |
I486T |
probably damaging |
Het |
| 4933427D14Rik |
T |
C |
11: 72,089,567 (GRCm39) |
R106G |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,675,333 (GRCm39) |
S2863P |
possibly damaging |
Het |
| Copa |
T |
A |
1: 171,948,812 (GRCm39) |
S1155T |
probably benign |
Het |
| Crot |
T |
C |
5: 9,027,541 (GRCm39) |
T264A |
probably benign |
Het |
| Ddx3y |
G |
A |
Y: 1,267,170 (GRCm39) |
A232V |
probably damaging |
Het |
| Dst |
T |
G |
1: 34,050,979 (GRCm39) |
V25G |
probably benign |
Het |
| Ehbp1 |
C |
T |
11: 22,087,867 (GRCm39) |
A406T |
probably benign |
Het |
| Eml5 |
A |
T |
12: 98,768,724 (GRCm39) |
|
probably benign |
Het |
| Eps8 |
A |
T |
6: 137,486,153 (GRCm39) |
M453K |
probably benign |
Het |
| Galnt3 |
T |
C |
2: 65,937,374 (GRCm39) |
D112G |
possibly damaging |
Het |
| Glra4 |
C |
T |
X: 135,663,542 (GRCm39) |
A336T |
probably damaging |
Het |
| Gmppb |
A |
G |
9: 107,927,338 (GRCm39) |
D95G |
probably benign |
Het |
| Gprc6a |
T |
C |
10: 51,504,544 (GRCm39) |
Y100C |
possibly damaging |
Het |
| Gpx6 |
C |
A |
13: 21,501,828 (GRCm39) |
S150Y |
probably damaging |
Het |
| Hsd17b3 |
A |
T |
13: 64,207,300 (GRCm39) |
V247D |
probably damaging |
Het |
| Htr7 |
T |
C |
19: 36,034,160 (GRCm39) |
D165G |
probably damaging |
Het |
| Igha |
T |
C |
12: 113,219,972 (GRCm39) |
|
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,239,345 (GRCm39) |
C279R |
probably damaging |
Het |
| Irak4 |
A |
G |
15: 94,452,621 (GRCm39) |
E182G |
possibly damaging |
Het |
| Lipo3 |
A |
T |
19: 33,535,723 (GRCm39) |
V274E |
probably damaging |
Het |
| Lrpprc |
A |
C |
17: 85,078,269 (GRCm39) |
|
probably null |
Het |
| Mast1 |
T |
C |
8: 85,645,393 (GRCm39) |
Y684C |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,722,363 (GRCm39) |
F2382L |
probably benign |
Het |
| Mepe |
C |
T |
5: 104,484,944 (GRCm39) |
P28L |
probably benign |
Het |
| Mrgpra3 |
T |
A |
7: 47,239,414 (GRCm39) |
I171F |
probably benign |
Het |
| Muc2 |
T |
A |
7: 141,300,541 (GRCm39) |
|
probably benign |
Het |
| Myh3 |
C |
T |
11: 66,987,262 (GRCm39) |
Q1371* |
probably null |
Het |
| Nodal |
T |
A |
10: 61,258,833 (GRCm39) |
V90E |
probably benign |
Het |
| Npas4 |
A |
T |
19: 5,036,579 (GRCm39) |
H528Q |
probably benign |
Het |
| Nt5dc3 |
T |
C |
10: 86,660,100 (GRCm39) |
V382A |
probably damaging |
Het |
| Pcdh18 |
G |
A |
3: 49,709,035 (GRCm39) |
T293I |
probably damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,513,665 (GRCm39) |
D947G |
probably damaging |
Het |
| Phf8-ps |
A |
T |
17: 33,285,405 (GRCm39) |
S466T |
probably benign |
Het |
| Pla2r1 |
A |
G |
2: 60,279,306 (GRCm39) |
V758A |
probably benign |
Het |
| Plod2 |
G |
T |
9: 92,480,672 (GRCm39) |
G422* |
probably null |
Het |
| Ppp1r12a |
T |
C |
10: 108,089,341 (GRCm39) |
V660A |
probably benign |
Het |
| Prdm6 |
T |
C |
18: 53,673,278 (GRCm39) |
I186T |
possibly damaging |
Het |
| Prkd3 |
G |
A |
17: 79,266,570 (GRCm39) |
|
probably benign |
Het |
| Rnf128 |
C |
A |
X: 138,565,271 (GRCm39) |
L282I |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,359,879 (GRCm39) |
N4424S |
|
Het |
| Scrn3 |
T |
C |
2: 73,166,121 (GRCm39) |
S385P |
possibly damaging |
Het |
| Serpina1d |
A |
T |
12: 103,734,107 (GRCm39) |
S66T |
probably benign |
Het |
| Setd3 |
T |
C |
12: 108,131,417 (GRCm39) |
K3R |
possibly damaging |
Het |
| Slc2a7 |
A |
G |
4: 150,242,667 (GRCm39) |
|
probably null |
Het |
| Smad4 |
G |
T |
18: 73,810,807 (GRCm39) |
T59K |
possibly damaging |
Het |
| Spc25 |
A |
G |
2: 69,032,945 (GRCm39) |
L60P |
probably damaging |
Het |
| Stam |
A |
C |
2: 14,143,772 (GRCm39) |
H354P |
probably damaging |
Het |
| Tesk1 |
C |
T |
4: 43,445,786 (GRCm39) |
P280S |
possibly damaging |
Het |
| Tmem120a |
C |
G |
5: 135,765,131 (GRCm39) |
R254P |
probably benign |
Het |
| Traf5 |
T |
C |
1: 191,729,837 (GRCm39) |
T405A |
probably benign |
Het |
| Trav7-4 |
A |
G |
14: 53,699,119 (GRCm39) |
S89G |
probably benign |
Het |
| Tsc22d1 |
T |
C |
14: 76,656,049 (GRCm39) |
S761P |
probably damaging |
Het |
| Ugt1a10 |
C |
A |
1: 88,143,862 (GRCm39) |
H361N |
probably damaging |
Het |
| Ugt2b1 |
C |
A |
5: 87,065,534 (GRCm39) |
V502L |
probably benign |
Het |
| Vip |
T |
A |
10: 5,592,590 (GRCm39) |
S77T |
possibly damaging |
Het |
| Wdr72 |
A |
T |
9: 74,125,979 (GRCm39) |
M1025L |
probably benign |
Het |
| Zfp541 |
A |
G |
7: 15,806,147 (GRCm39) |
D94G |
probably damaging |
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 |
|
|
IGL02683:Prrc2a
|
APN |
17 |
35,374,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCCAATGAAGGATCACTACC -3'
(R):5'- TGTCATGCCACTGCCTTAAC -3'
Sequencing Primer
(F):5'- ATGAAGGATCACTACCTCTTCCC -3'
(R):5'- TGTCTCATTACTTGCAGGAGC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation