Incidental Mutation 'R6847:Prr12'
| ID |
534810 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prr12
|
| Ensembl Gene |
ENSMUSG00000046574 |
| Gene Name |
proline rich 12 |
| Synonyms |
|
| MMRRC Submission |
045021-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.486)
|
| Stock # |
R6847 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44676987-44702305 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44695164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 1434
(N1434S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054702
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057293]
|
| AlphaFold |
E9PYL2 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000057293
AA Change: N1434S
|
| SMART Domains |
Protein: ENSMUSP00000054702
Gene: ENSMUSG00000046574
AA Change: N1434S
| 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 |
|
| Meta Mutation Damage Score |
0.0628 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
100% (50/50) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
A |
G |
8: 44,021,465 (GRCm39) |
I675T |
probably benign |
Het |
| Adgrb3 |
A |
T |
1: 25,133,003 (GRCm39) |
M1121K |
probably benign |
Het |
| Ak9 |
A |
G |
10: 41,233,797 (GRCm39) |
|
probably null |
Het |
| Akr1c6 |
T |
A |
13: 4,488,497 (GRCm39) |
C34* |
probably null |
Het |
| Akt3 |
G |
A |
1: 176,859,225 (GRCm39) |
P449S |
probably damaging |
Het |
| Atg2b |
A |
T |
12: 105,602,047 (GRCm39) |
V1643E |
probably damaging |
Het |
| Atp2c1 |
T |
C |
9: 105,295,778 (GRCm39) |
I819V |
probably damaging |
Het |
| Casp3 |
C |
T |
8: 47,089,301 (GRCm39) |
A183V |
probably benign |
Het |
| Cdk1 |
A |
T |
10: 69,174,358 (GRCm39) |
D288E |
probably benign |
Het |
| Cep131 |
G |
A |
11: 119,956,517 (GRCm39) |
R944W |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,399,281 (GRCm39) |
K2268E |
probably damaging |
Het |
| Crybg2 |
A |
G |
4: 133,792,857 (GRCm39) |
E164G |
probably benign |
Het |
| Cubn |
A |
C |
2: 13,449,064 (GRCm39) |
|
probably null |
Het |
| Dnajc14 |
A |
T |
10: 128,652,656 (GRCm39) |
E571D |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Eef1b2 |
A |
G |
1: 63,217,648 (GRCm39) |
E44G |
probably benign |
Het |
| Eml6 |
C |
T |
11: 29,768,447 (GRCm39) |
V747I |
probably benign |
Het |
| Ext1 |
T |
G |
15: 53,208,550 (GRCm39) |
Q70H |
probably benign |
Het |
| Gbp2b |
T |
A |
3: 142,303,940 (GRCm39) |
C12S |
probably damaging |
Het |
| Gbp8 |
A |
C |
5: 105,179,093 (GRCm39) |
D135E |
probably benign |
Het |
| Gm12886 |
A |
T |
4: 121,273,916 (GRCm39) |
L100* |
probably null |
Het |
| Gpatch1 |
A |
T |
7: 34,992,983 (GRCm39) |
|
probably null |
Het |
| Ifit3b |
A |
T |
19: 34,588,925 (GRCm39) |
M34L |
probably benign |
Het |
| Il12a |
G |
T |
3: 68,602,899 (GRCm39) |
D160Y |
probably damaging |
Het |
| Klhl2 |
A |
G |
8: 65,212,816 (GRCm39) |
L241P |
probably damaging |
Het |
| Krt80 |
T |
C |
15: 101,256,610 (GRCm39) |
E195G |
probably benign |
Het |
| Lgi1 |
T |
C |
19: 38,289,738 (GRCm39) |
V268A |
probably damaging |
Het |
| Lrrfip1 |
A |
T |
1: 91,032,850 (GRCm39) |
D216V |
probably damaging |
Het |
| Meis3 |
A |
G |
7: 15,917,789 (GRCm39) |
N314S |
probably damaging |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Myh15 |
A |
T |
16: 48,965,451 (GRCm39) |
I1119F |
possibly damaging |
Het |
| Nav2 |
A |
T |
7: 49,141,204 (GRCm39) |
Q916H |
probably benign |
Het |
| Ncam2 |
A |
T |
16: 81,229,606 (GRCm39) |
Q22L |
probably damaging |
Het |
| Or5b118 |
A |
T |
19: 13,448,402 (GRCm39) |
I23F |
probably benign |
Het |
| P2rx4 |
G |
A |
5: 122,865,814 (GRCm39) |
V329M |
probably damaging |
Het |
| Peg10 |
A |
G |
6: 4,754,279 (GRCm39) |
|
probably benign |
Het |
| Pgp |
T |
C |
17: 24,690,375 (GRCm39) |
L267P |
probably damaging |
Het |
| Pou2af2 |
G |
A |
9: 51,201,504 (GRCm39) |
T184M |
probably damaging |
Het |
| Prdm2 |
A |
C |
4: 142,859,520 (GRCm39) |
S1257A |
probably benign |
Het |
| Psmc3ip |
A |
T |
11: 100,985,999 (GRCm39) |
H40Q |
probably damaging |
Het |
| Ptprc |
A |
T |
1: 138,016,283 (GRCm39) |
N526K |
probably damaging |
Het |
| Sec63 |
T |
A |
10: 42,667,249 (GRCm39) |
D138E |
probably damaging |
Het |
| Serpinb13 |
A |
G |
1: 106,926,663 (GRCm39) |
N220D |
probably benign |
Het |
| Siva1 |
G |
A |
12: 112,611,344 (GRCm39) |
|
probably benign |
Het |
| Slc39a12 |
A |
G |
2: 14,454,728 (GRCm39) |
H546R |
probably damaging |
Het |
| Slc7a1 |
G |
A |
5: 148,271,468 (GRCm39) |
A497V |
probably benign |
Het |
| Smg5 |
G |
T |
3: 88,249,859 (GRCm39) |
K95N |
probably damaging |
Het |
| Speer1a |
G |
A |
5: 11,394,134 (GRCm39) |
V78M |
probably damaging |
Het |
| Traj50 |
T |
A |
14: 54,405,101 (GRCm39) |
|
probably benign |
Het |
| Ubr3 |
T |
C |
2: 69,813,472 (GRCm39) |
V1261A |
probably damaging |
Het |
| Zc3h11a |
A |
T |
1: 133,566,700 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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'- ATTCCCTGCTGAACCTCTGAG -3'
(R):5'- ACTCTGTGGCCAAGAACAG -3'
Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- GAGACCTGCAGGAGAGCATTTC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation