Incidental Mutation 'R5045:Prr12'
ID |
394322 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prr12
|
Ensembl Gene |
ENSMUSG00000046574 |
Gene Name |
proline rich 12 |
Synonyms |
|
MMRRC Submission |
042635-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.547)
|
Stock # |
R5045 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
44676987-44702305 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 44699318 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]
[ENSMUST00000210500]
[ENSMUST00000211014]
[ENSMUST00000211337]
[ENSMUST00000210690]
|
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: V199A
|
SMART Domains |
Protein: ENSMUSP00000054702 Gene: ENSMUSG00000046574 AA Change: V199A
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: ENSMUST00000210500
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211014
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211337
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210690
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211084
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810062G17Rik |
T |
C |
3: 36,530,327 (GRCm39) |
|
probably benign |
Het |
2210408I21Rik |
A |
G |
13: 77,415,927 (GRCm39) |
|
probably null |
Het |
4930519P11Rik |
A |
T |
2: 154,454,950 (GRCm39) |
C136* |
probably null |
Het |
4930519P11Rik |
G |
T |
2: 154,454,982 (GRCm39) |
|
probably benign |
Het |
Adgrb3 |
T |
A |
1: 25,113,860 (GRCm39) |
H1189L |
probably damaging |
Het |
Arhgap24 |
A |
G |
5: 103,039,743 (GRCm39) |
I227V |
possibly damaging |
Het |
Arhgap29 |
C |
A |
3: 121,796,244 (GRCm39) |
N445K |
probably benign |
Het |
Atp13a3 |
T |
C |
16: 30,158,694 (GRCm39) |
H811R |
probably benign |
Het |
Cd2ap |
T |
C |
17: 43,118,851 (GRCm39) |
N529S |
probably benign |
Het |
Cdh20 |
T |
A |
1: 110,026,080 (GRCm39) |
S439T |
probably benign |
Het |
Ces3a |
G |
T |
8: 105,777,248 (GRCm39) |
|
probably null |
Het |
Cftr |
T |
A |
6: 18,230,080 (GRCm39) |
N408K |
probably benign |
Het |
Chil5 |
T |
C |
3: 105,931,456 (GRCm39) |
N136S |
possibly damaging |
Het |
Col20a1 |
A |
G |
2: 180,648,638 (GRCm39) |
D933G |
probably damaging |
Het |
Crh |
A |
T |
3: 19,748,153 (GRCm39) |
L163* |
probably null |
Het |
Ctps1 |
A |
C |
4: 120,410,075 (GRCm39) |
|
probably null |
Het |
Cyb5d2 |
A |
G |
11: 72,686,401 (GRCm39) |
V63A |
probably damaging |
Het |
Cyp2d11 |
T |
A |
15: 82,275,272 (GRCm39) |
|
probably null |
Het |
Dclk3 |
A |
T |
9: 111,296,856 (GRCm39) |
E133D |
probably damaging |
Het |
Dhrs9 |
A |
G |
2: 69,223,339 (GRCm39) |
D29G |
probably benign |
Het |
Disp2 |
G |
A |
2: 118,622,543 (GRCm39) |
E1092K |
probably benign |
Het |
Enpp3 |
A |
G |
10: 24,652,665 (GRCm39) |
I764T |
probably damaging |
Het |
Epm2aip1 |
C |
A |
9: 111,102,427 (GRCm39) |
R467S |
possibly damaging |
Het |
Fam20a |
T |
C |
11: 109,568,711 (GRCm39) |
I272V |
probably benign |
Het |
Fgb |
T |
C |
3: 82,950,680 (GRCm39) |
Y358C |
probably damaging |
Het |
Gm11596 |
A |
T |
11: 99,683,695 (GRCm39) |
S142T |
unknown |
Het |
Golga4 |
A |
G |
9: 118,394,724 (GRCm39) |
T9A |
probably benign |
Het |
Hmcn2 |
C |
T |
2: 31,299,093 (GRCm39) |
P2813L |
probably damaging |
Het |
Ighv1-9 |
C |
T |
12: 114,547,440 (GRCm39) |
G34R |
probably damaging |
Het |
Kalrn |
A |
C |
16: 34,134,722 (GRCm39) |
Y353* |
probably null |
Het |
Klrk1 |
T |
C |
6: 129,594,466 (GRCm39) |
Y42C |
probably benign |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Mbtd1 |
T |
C |
11: 93,822,641 (GRCm39) |
Y484H |
probably benign |
Het |
Mki67 |
T |
C |
7: 135,309,633 (GRCm39) |
R273G |
possibly damaging |
Het |
Myh11 |
A |
T |
16: 14,057,391 (GRCm39) |
L308* |
probably null |
Het |
Nacc2 |
G |
A |
2: 25,980,150 (GRCm39) |
|
probably null |
Het |
Nadsyn1 |
A |
G |
7: 143,360,706 (GRCm39) |
L354P |
probably damaging |
Het |
Ntrk3 |
T |
A |
7: 78,110,172 (GRCm39) |
Q354L |
probably benign |
Het |
Or10ag58 |
A |
T |
2: 87,265,490 (GRCm39) |
I220L |
probably damaging |
Het |
Or52r1c |
G |
A |
7: 102,735,664 (GRCm39) |
G308E |
probably benign |
Het |
Phactr3 |
T |
C |
2: 177,973,412 (GRCm39) |
I470T |
probably damaging |
Het |
Pkd1l3 |
C |
T |
8: 110,349,787 (GRCm39) |
P211S |
unknown |
Het |
Potefam1 |
T |
A |
2: 111,023,804 (GRCm39) |
Q110L |
unknown |
Het |
Prickle2 |
T |
C |
6: 92,353,375 (GRCm39) |
D753G |
probably damaging |
Het |
Psd3 |
T |
C |
8: 68,166,477 (GRCm39) |
E917G |
probably damaging |
Het |
Rgsl1 |
T |
A |
1: 153,697,268 (GRCm39) |
K551* |
probably null |
Het |
Stag3 |
T |
C |
5: 138,302,740 (GRCm39) |
L1033P |
probably damaging |
Het |
Tcaf3 |
T |
A |
6: 42,570,618 (GRCm39) |
Q378L |
possibly damaging |
Het |
Tdpoz8 |
G |
T |
3: 92,981,524 (GRCm39) |
D181Y |
probably damaging |
Het |
Tespa1 |
A |
T |
10: 130,197,904 (GRCm39) |
K309* |
probably null |
Het |
Trim69 |
A |
G |
2: 122,004,727 (GRCm39) |
T275A |
probably benign |
Het |
Txndc17 |
T |
C |
11: 72,098,537 (GRCm39) |
Y30H |
probably damaging |
Het |
Ugt2a2 |
A |
T |
5: 87,622,751 (GRCm39) |
F72L |
probably damaging |
Het |
Vmn2r59 |
A |
T |
7: 41,695,496 (GRCm39) |
D305E |
possibly damaging |
Het |
Vmn2r71 |
A |
G |
7: 85,273,597 (GRCm39) |
I804V |
probably benign |
Het |
Zfy2 |
T |
C |
Y: 2,107,159 (GRCm39) |
K492E |
possibly damaging |
Het |
Zkscan1 |
A |
G |
5: 138,099,182 (GRCm39) |
H375R |
probably damaging |
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 |
|
IGL02043:Prr12
|
APN |
7 |
44,699,429 (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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACCCGAGAAGTTGTAGAGCTGG -3'
(R):5'- GGAACTCTTCATCTCTGGTGC -3'
Sequencing Primer
(F):5'- AGATTGAACTGAGTCGGG -3'
(R):5'- AGGTTCCAGCACCTTCCCG -3'
|
Posted On |
2016-06-15 |