Incidental Mutation 'IGL02043:Prr12'
ID |
184856 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Prr12
|
Ensembl Gene |
ENSMUSG00000046574 |
Gene Name |
proline rich 12 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.547)
|
Stock # |
IGL02043
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
44676987-44702305 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 44699429 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147709
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007981]
[ENSMUST00000057293]
[ENSMUST00000209920]
[ENSMUST00000210101]
[ENSMUST00000210493]
[ENSMUST00000210690]
[ENSMUST00000211014]
[ENSMUST00000211337]
[ENSMUST00000210500]
|
AlphaFold |
E9PYL2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000007981
|
SMART Domains |
Protein: ENSMUSP00000007981 Gene: ENSMUSG00000007837
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
GLA
|
30 |
97 |
4.2e-27 |
SMART |
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
low complexity region
|
156 |
173 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000057293
AA Change: F162S
|
SMART Domains |
Protein: ENSMUSP00000054702 Gene: ENSMUSG00000046574 AA Change: F162S
Domain | Start | End | E-Value | Type |
low complexity region
|
135 |
150 |
N/A |
INTRINSIC |
low complexity region
|
208 |
222 |
N/A |
INTRINSIC |
low complexity region
|
225 |
242 |
N/A |
INTRINSIC |
low complexity region
|
249 |
261 |
N/A |
INTRINSIC |
low complexity region
|
330 |
376 |
N/A |
INTRINSIC |
low complexity region
|
388 |
413 |
N/A |
INTRINSIC |
low complexity region
|
418 |
444 |
N/A |
INTRINSIC |
low complexity region
|
450 |
464 |
N/A |
INTRINSIC |
low complexity region
|
469 |
487 |
N/A |
INTRINSIC |
low complexity region
|
535 |
559 |
N/A |
INTRINSIC |
low complexity region
|
598 |
616 |
N/A |
INTRINSIC |
low complexity region
|
665 |
682 |
N/A |
INTRINSIC |
low complexity region
|
760 |
775 |
N/A |
INTRINSIC |
low complexity region
|
785 |
814 |
N/A |
INTRINSIC |
low complexity region
|
830 |
841 |
N/A |
INTRINSIC |
low complexity region
|
858 |
871 |
N/A |
INTRINSIC |
low complexity region
|
883 |
896 |
N/A |
INTRINSIC |
low complexity region
|
949 |
960 |
N/A |
INTRINSIC |
low complexity region
|
964 |
986 |
N/A |
INTRINSIC |
low complexity region
|
1033 |
1044 |
N/A |
INTRINSIC |
low complexity region
|
1059 |
1070 |
N/A |
INTRINSIC |
AT_hook
|
1161 |
1173 |
5.74e1 |
SMART |
AT_hook
|
1193 |
1205 |
8.09e0 |
SMART |
low complexity region
|
1252 |
1264 |
N/A |
INTRINSIC |
low complexity region
|
1308 |
1328 |
N/A |
INTRINSIC |
low complexity region
|
1417 |
1535 |
N/A |
INTRINSIC |
low complexity region
|
1684 |
1748 |
N/A |
INTRINSIC |
Pfam:DUF4211
|
1817 |
1950 |
6.5e-21 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209417
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209920
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210101
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210493
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210690
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211014
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211084
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211337
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210500
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a proline-rich protein that contains two A-T hook DNA binding domains. A chromosomal translocation and gene fusion between this gene and zinc finger, MIZ-type containing 1 (Gene ID: 57178) may underlie intellectual disability and neuropsychiatric problems in a human patient. Enriched expression of this gene in embryonic mouse brain suggests that this gene may play a role in nervous system development. [provided by RefSeq, Jul 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp1b2 |
T |
C |
11: 69,496,102 (GRCm39) |
T33A |
probably benign |
Het |
Brd2 |
A |
T |
17: 34,331,590 (GRCm39) |
|
probably benign |
Het |
Carmil1 |
T |
C |
13: 24,208,299 (GRCm39) |
|
probably benign |
Het |
Cdh9 |
A |
T |
15: 16,856,318 (GRCm39) |
D786V |
probably damaging |
Het |
Cep128 |
A |
C |
12: 91,233,504 (GRCm39) |
|
probably benign |
Het |
Cep85 |
T |
C |
4: 133,883,038 (GRCm39) |
T284A |
probably benign |
Het |
Chrna1 |
C |
T |
2: 73,398,450 (GRCm39) |
E330K |
probably benign |
Het |
Clec2l |
T |
C |
6: 38,653,785 (GRCm39) |
Y104H |
probably damaging |
Het |
Clybl |
G |
T |
14: 122,616,664 (GRCm39) |
K226N |
probably damaging |
Het |
Cmip |
T |
A |
8: 118,172,067 (GRCm39) |
D467E |
probably benign |
Het |
Cpne3 |
A |
T |
4: 19,543,340 (GRCm39) |
|
probably null |
Het |
Crisp4 |
A |
G |
1: 18,204,324 (GRCm39) |
V46A |
probably damaging |
Het |
Csnk2a1 |
T |
C |
2: 152,116,070 (GRCm39) |
Y261H |
probably damaging |
Het |
Cul5 |
C |
A |
9: 53,569,973 (GRCm39) |
G86V |
probably benign |
Het |
Czib |
T |
G |
4: 107,752,065 (GRCm39) |
|
probably benign |
Het |
Depdc7 |
T |
C |
2: 104,560,626 (GRCm39) |
T123A |
probably benign |
Het |
Edem2 |
T |
C |
2: 155,547,661 (GRCm39) |
T384A |
probably damaging |
Het |
F8 |
C |
T |
X: 74,376,247 (GRCm39) |
M377I |
probably benign |
Het |
Fan1 |
T |
A |
7: 64,021,367 (GRCm39) |
|
probably null |
Het |
Fez2 |
T |
C |
17: 78,689,051 (GRCm39) |
D366G |
probably damaging |
Het |
Gm4841 |
A |
C |
18: 60,404,037 (GRCm39) |
S19A |
probably benign |
Het |
Gm4862 |
T |
A |
3: 138,834,396 (GRCm39) |
|
noncoding transcript |
Het |
Hk3 |
T |
A |
13: 55,162,908 (GRCm39) |
Q44L |
probably damaging |
Het |
Irgm1 |
C |
A |
11: 48,757,642 (GRCm39) |
L56F |
probably damaging |
Het |
Ldlr |
A |
G |
9: 21,644,795 (GRCm39) |
T108A |
probably benign |
Het |
Lgr4 |
T |
A |
2: 109,841,635 (GRCm39) |
M516K |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,587,537 (GRCm39) |
N3906S |
probably null |
Het |
Lrrtm4 |
A |
G |
6: 79,998,845 (GRCm39) |
N86D |
possibly damaging |
Het |
Map3k2 |
A |
G |
18: 32,340,587 (GRCm39) |
D198G |
probably damaging |
Het |
Mapkapk3 |
C |
T |
9: 107,139,621 (GRCm39) |
|
probably null |
Het |
Mvp |
A |
T |
7: 126,592,790 (GRCm39) |
Y374N |
probably damaging |
Het |
Myo3a |
T |
C |
2: 22,404,776 (GRCm39) |
S711P |
probably benign |
Het |
Myom3 |
A |
G |
4: 135,497,986 (GRCm39) |
K189E |
probably damaging |
Het |
Naip1 |
T |
A |
13: 100,563,304 (GRCm39) |
K620N |
probably benign |
Het |
Nlrp10 |
T |
C |
7: 108,524,709 (GRCm39) |
E257G |
probably damaging |
Het |
Nptn |
T |
G |
9: 58,548,012 (GRCm39) |
M139R |
possibly damaging |
Het |
Nrk |
T |
G |
X: 137,889,544 (GRCm39) |
M1105R |
possibly damaging |
Het |
Or10a3n |
A |
T |
7: 108,493,046 (GRCm39) |
C189* |
probably null |
Het |
Or10d4 |
T |
G |
9: 39,580,374 (GRCm39) |
V7G |
probably damaging |
Het |
Or1q1 |
T |
A |
2: 36,887,477 (GRCm39) |
Y218* |
probably null |
Het |
Pcdhb16 |
A |
G |
18: 37,612,248 (GRCm39) |
T403A |
probably benign |
Het |
Pcyt1b |
A |
G |
X: 92,745,722 (GRCm39) |
E50G |
possibly damaging |
Het |
Pigg |
C |
T |
5: 108,492,190 (GRCm39) |
T892I |
probably damaging |
Het |
Ppig |
T |
G |
2: 69,566,327 (GRCm39) |
|
probably null |
Het |
Slc5a5 |
G |
T |
8: 71,345,073 (GRCm39) |
A78E |
possibly damaging |
Het |
Slc7a2 |
T |
G |
8: 41,364,095 (GRCm39) |
M436R |
probably benign |
Het |
Sp7 |
T |
A |
15: 102,267,690 (GRCm39) |
M39L |
probably benign |
Het |
Spag8 |
T |
A |
4: 43,653,134 (GRCm39) |
|
probably benign |
Het |
Svep1 |
A |
G |
4: 58,068,556 (GRCm39) |
S3077P |
probably benign |
Het |
Tmem30a |
A |
T |
9: 79,681,371 (GRCm39) |
|
probably benign |
Het |
Tmem63a |
C |
T |
1: 180,800,353 (GRCm39) |
T714I |
probably benign |
Het |
Trank1 |
T |
C |
9: 111,193,028 (GRCm39) |
L535P |
probably damaging |
Het |
Tuba8 |
A |
C |
6: 121,197,470 (GRCm39) |
N44T |
probably benign |
Het |
Wnk1 |
A |
G |
6: 119,926,039 (GRCm39) |
|
probably benign |
Het |
Zfp654 |
A |
T |
16: 64,605,391 (GRCm39) |
I396K |
probably benign |
Het |
|
Other mutations in Prr12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01144:Prr12
|
APN |
7 |
44,696,882 (GRCm39) |
missense |
unknown |
|
IGL01603:Prr12
|
APN |
7 |
44,692,909 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01941:Prr12
|
APN |
7 |
44,698,083 (GRCm39) |
unclassified |
probably benign |
|
IGL02170:Prr12
|
APN |
7 |
44,695,612 (GRCm39) |
missense |
unknown |
|
IGL02494:Prr12
|
APN |
7 |
44,678,270 (GRCm39) |
missense |
unknown |
|
IGL02947:Prr12
|
APN |
7 |
44,697,980 (GRCm39) |
missense |
unknown |
|
R0128:Prr12
|
UTSW |
7 |
44,699,463 (GRCm39) |
unclassified |
probably benign |
|
R0255:Prr12
|
UTSW |
7 |
44,699,415 (GRCm39) |
unclassified |
probably benign |
|
R0556:Prr12
|
UTSW |
7 |
44,680,093 (GRCm39) |
missense |
unknown |
|
R1168:Prr12
|
UTSW |
7 |
44,678,471 (GRCm39) |
missense |
unknown |
|
R1266:Prr12
|
UTSW |
7 |
44,699,677 (GRCm39) |
unclassified |
probably benign |
|
R1374:Prr12
|
UTSW |
7 |
44,695,642 (GRCm39) |
missense |
unknown |
|
R1531:Prr12
|
UTSW |
7 |
44,677,954 (GRCm39) |
missense |
unknown |
|
R1537:Prr12
|
UTSW |
7 |
44,678,366 (GRCm39) |
missense |
unknown |
|
R1572:Prr12
|
UTSW |
7 |
44,678,224 (GRCm39) |
missense |
unknown |
|
R1617:Prr12
|
UTSW |
7 |
44,699,018 (GRCm39) |
unclassified |
probably benign |
|
R1647:Prr12
|
UTSW |
7 |
44,683,616 (GRCm39) |
missense |
probably benign |
0.20 |
R1694:Prr12
|
UTSW |
7 |
44,678,003 (GRCm39) |
missense |
unknown |
|
R1732:Prr12
|
UTSW |
7 |
44,697,780 (GRCm39) |
missense |
unknown |
|
R1819:Prr12
|
UTSW |
7 |
44,698,121 (GRCm39) |
unclassified |
probably benign |
|
R2114:Prr12
|
UTSW |
7 |
44,695,506 (GRCm39) |
missense |
unknown |
|
R2210:Prr12
|
UTSW |
7 |
44,698,775 (GRCm39) |
unclassified |
probably benign |
|
R2846:Prr12
|
UTSW |
7 |
44,695,436 (GRCm39) |
missense |
unknown |
|
R2902:Prr12
|
UTSW |
7 |
44,697,036 (GRCm39) |
missense |
unknown |
|
R2985:Prr12
|
UTSW |
7 |
44,695,436 (GRCm39) |
missense |
unknown |
|
R4094:Prr12
|
UTSW |
7 |
44,697,371 (GRCm39) |
missense |
unknown |
|
R4498:Prr12
|
UTSW |
7 |
44,695,338 (GRCm39) |
missense |
unknown |
|
R4523:Prr12
|
UTSW |
7 |
44,697,947 (GRCm39) |
missense |
unknown |
|
R4763:Prr12
|
UTSW |
7 |
44,697,119 (GRCm39) |
missense |
unknown |
|
R4775:Prr12
|
UTSW |
7 |
44,700,749 (GRCm39) |
unclassified |
probably benign |
|
R4995:Prr12
|
UTSW |
7 |
44,700,653 (GRCm39) |
unclassified |
probably benign |
|
R5007:Prr12
|
UTSW |
7 |
44,699,225 (GRCm39) |
unclassified |
probably benign |
|
R5045:Prr12
|
UTSW |
7 |
44,699,318 (GRCm39) |
unclassified |
probably benign |
|
R5184:Prr12
|
UTSW |
7 |
44,695,801 (GRCm39) |
missense |
unknown |
|
R5897:Prr12
|
UTSW |
7 |
44,692,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R6847:Prr12
|
UTSW |
7 |
44,695,164 (GRCm39) |
missense |
unknown |
|
R6912:Prr12
|
UTSW |
7 |
44,698,269 (GRCm39) |
unclassified |
probably benign |
|
R7147:Prr12
|
UTSW |
7 |
44,683,274 (GRCm39) |
missense |
unknown |
|
R8120:Prr12
|
UTSW |
7 |
44,684,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R8292:Prr12
|
UTSW |
7 |
44,684,112 (GRCm39) |
missense |
probably damaging |
1.00 |
R8822:Prr12
|
UTSW |
7 |
44,699,763 (GRCm39) |
missense |
unknown |
|
R9039:Prr12
|
UTSW |
7 |
44,684,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R9095:Prr12
|
UTSW |
7 |
44,695,267 (GRCm39) |
missense |
unknown |
|
R9148:Prr12
|
UTSW |
7 |
44,697,242 (GRCm39) |
missense |
unknown |
|
R9240:Prr12
|
UTSW |
7 |
44,684,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R9272:Prr12
|
UTSW |
7 |
44,692,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R9503:Prr12
|
UTSW |
7 |
44,693,020 (GRCm39) |
missense |
unknown |
|
R9533:Prr12
|
UTSW |
7 |
44,698,692 (GRCm39) |
missense |
unknown |
|
R9762:Prr12
|
UTSW |
7 |
44,696,954 (GRCm39) |
missense |
unknown |
|
X0066:Prr12
|
UTSW |
7 |
44,696,427 (GRCm39) |
missense |
unknown |
|
Z1176:Prr12
|
UTSW |
7 |
44,702,280 (GRCm39) |
missense |
unknown |
|
Z1177:Prr12
|
UTSW |
7 |
44,699,710 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2014-05-07 |