Incidental Mutation 'IGL01941:Prr12'
| ID |
181166 |
| 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 # |
IGL01941
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
44676987-44702305 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 44698083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148014
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007981]
[ENSMUST00000057293]
[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: G611S
|
| SMART Domains |
Protein: ENSMUSP00000054702
Gene: ENSMUSG00000046574
AA Change: G611S
| 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 |
probably benign
Transcript: ENSMUST00000210690
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030624G23Rik |
A |
T |
12: 24,094,802 (GRCm39) |
L123Q |
probably benign |
Het |
| Abca2 |
C |
T |
2: 25,333,107 (GRCm39) |
S1602F |
probably benign |
Het |
| Abcc9 |
C |
A |
6: 142,551,630 (GRCm39) |
C1191F |
probably damaging |
Het |
| Adam3 |
G |
T |
8: 25,171,462 (GRCm39) |
|
probably benign |
Het |
| Aldh1l1 |
G |
T |
6: 90,539,677 (GRCm39) |
G202V |
probably damaging |
Het |
| Ankrd46 |
T |
C |
15: 36,486,083 (GRCm39) |
N57D |
possibly damaging |
Het |
| Asic1 |
A |
T |
15: 99,596,982 (GRCm39) |
H548L |
possibly damaging |
Het |
| Atpaf2 |
A |
G |
11: 60,294,724 (GRCm39) |
I233T |
probably benign |
Het |
| Ccdc185 |
G |
T |
1: 182,575,769 (GRCm39) |
Q307K |
probably benign |
Het |
| Cep120 |
T |
C |
18: 53,856,220 (GRCm39) |
D399G |
probably benign |
Het |
| Cnn2 |
G |
A |
10: 79,828,388 (GRCm39) |
V122M |
probably benign |
Het |
| Dgkd |
T |
C |
1: 87,852,281 (GRCm39) |
S472P |
probably damaging |
Het |
| Dock5 |
A |
C |
14: 68,049,681 (GRCm39) |
I701S |
probably damaging |
Het |
| Efl1 |
A |
G |
7: 82,347,184 (GRCm39) |
E570G |
probably benign |
Het |
| Eln |
G |
A |
5: 134,747,024 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,202,831 (GRCm39) |
V81A |
probably benign |
Het |
| Fbxw21 |
T |
G |
9: 108,977,224 (GRCm39) |
I162L |
probably benign |
Het |
| Fhl2 |
G |
A |
1: 43,170,832 (GRCm39) |
Q161* |
probably null |
Het |
| Gabrg2 |
A |
G |
11: 41,862,548 (GRCm39) |
Y179H |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Grik5 |
A |
T |
7: 24,764,607 (GRCm39) |
I152N |
probably damaging |
Het |
| H2-Ab1 |
A |
T |
17: 34,486,408 (GRCm39) |
K156* |
probably null |
Het |
| Hecw1 |
T |
C |
13: 14,490,895 (GRCm39) |
Y699C |
probably benign |
Het |
| Ipo9 |
A |
C |
1: 135,335,811 (GRCm39) |
V202G |
possibly damaging |
Het |
| Itprid1 |
A |
G |
6: 55,945,030 (GRCm39) |
R584G |
probably benign |
Het |
| Jmjd6 |
A |
T |
11: 116,732,184 (GRCm39) |
|
probably null |
Het |
| Lama5 |
A |
G |
2: 179,834,185 (GRCm39) |
I1416T |
possibly damaging |
Het |
| Matn1 |
T |
C |
4: 130,679,572 (GRCm39) |
|
probably benign |
Het |
| Mavs |
T |
C |
2: 131,088,525 (GRCm39) |
V443A |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,204,624 (GRCm39) |
S1798R |
possibly damaging |
Het |
| Muc6 |
A |
C |
7: 141,218,497 (GRCm39) |
S2059A |
probably benign |
Het |
| Or4a78 |
A |
T |
2: 89,497,812 (GRCm39) |
C139* |
probably null |
Het |
| Otud7b |
G |
T |
3: 96,062,776 (GRCm39) |
G672C |
probably benign |
Het |
| Palld |
T |
A |
8: 61,988,734 (GRCm39) |
T572S |
probably benign |
Het |
| Pde6b |
T |
A |
5: 108,570,902 (GRCm39) |
V379E |
probably benign |
Het |
| Peak1 |
A |
G |
9: 56,166,059 (GRCm39) |
V623A |
probably damaging |
Het |
| Rxra |
T |
C |
2: 27,644,253 (GRCm39) |
I315T |
probably damaging |
Het |
| Slc11a1 |
C |
T |
1: 74,416,338 (GRCm39) |
A55V |
probably damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,958,404 (GRCm39) |
N123D |
possibly damaging |
Het |
| Smr2l |
A |
G |
5: 88,430,301 (GRCm39) |
S66G |
probably benign |
Het |
| Spcs1 |
A |
G |
14: 30,722,829 (GRCm39) |
M82T |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,472,116 (GRCm39) |
E113G |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,013,994 (GRCm39) |
K3062E |
probably benign |
Het |
| Traf3ip2 |
T |
C |
10: 39,510,656 (GRCm39) |
S310P |
probably benign |
Het |
| Ubp1 |
T |
C |
9: 113,785,826 (GRCm39) |
L167S |
probably damaging |
Het |
| Vmn1r196 |
T |
A |
13: 22,477,869 (GRCm39) |
C169* |
probably null |
Het |
| Vmn1r223 |
T |
A |
13: 23,434,407 (GRCm39) |
F334I |
possibly damaging |
Het |
| Vmn2r10 |
A |
T |
5: 109,143,820 (GRCm39) |
I710N |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wdr26 |
A |
G |
1: 181,038,635 (GRCm39) |
|
probably benign |
Het |
| Wnt7a |
A |
G |
6: 91,371,645 (GRCm39) |
F106L |
probably benign |
Het |
| Zfp940 |
C |
T |
7: 29,546,295 (GRCm39) |
V34M |
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 |
|
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 |
|
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 |
Incidental Mutation