Incidental Mutation 'R2902:Prr12'
| ID |
261501 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prr12
|
| Ensembl Gene |
ENSMUSG00000046574 |
| Gene Name |
proline rich 12 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.547)
|
| Stock # |
R2902 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44676987-44702305 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 44697036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 960
(G960R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054702
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057293]
|
| AlphaFold |
E9PYL2 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000057293
AA Change: G960R
|
| SMART Domains |
Protein: ENSMUSP00000054702
Gene: ENSMUSG00000046574
AA Change: G960R
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apobec2 |
T |
C |
17: 48,730,409 (GRCm39) |
T86A |
probably benign |
Het |
| C1qtnf1 |
A |
G |
11: 118,338,930 (GRCm39) |
|
probably null |
Het |
| Cacng3 |
A |
G |
7: 122,353,750 (GRCm39) |
K78R |
possibly damaging |
Het |
| Cep68 |
A |
G |
11: 20,190,187 (GRCm39) |
L275P |
probably damaging |
Het |
| Chrm4 |
A |
G |
2: 91,758,302 (GRCm39) |
K237E |
probably benign |
Het |
| Clvs1 |
A |
G |
4: 9,281,972 (GRCm39) |
K139E |
probably damaging |
Het |
| Col25a1 |
A |
T |
3: 130,340,040 (GRCm39) |
E351V |
probably damaging |
Het |
| Cyp4f18 |
A |
T |
8: 72,756,255 (GRCm39) |
I107N |
probably damaging |
Het |
| Dagla |
A |
G |
19: 10,225,467 (GRCm39) |
L899P |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,550,722 (GRCm39) |
K3199R |
possibly damaging |
Het |
| Ecpas |
G |
A |
4: 58,809,691 (GRCm39) |
T1592M |
probably benign |
Het |
| Emc10 |
G |
A |
7: 44,142,616 (GRCm39) |
R109W |
probably damaging |
Het |
| Fam186a |
G |
T |
15: 99,843,049 (GRCm39) |
T1065K |
possibly damaging |
Het |
| Ferd3l |
T |
G |
12: 33,978,952 (GRCm39) |
M155R |
probably damaging |
Het |
| Fgd4 |
A |
G |
16: 16,243,729 (GRCm39) |
Y602H |
probably damaging |
Het |
| Gldn |
T |
C |
9: 54,243,098 (GRCm39) |
L360P |
possibly damaging |
Het |
| Gm9920 |
C |
A |
15: 54,975,867 (GRCm39) |
|
probably benign |
Het |
| Inhbc |
T |
C |
10: 127,193,621 (GRCm39) |
T132A |
probably benign |
Het |
| Krt23 |
T |
C |
11: 99,374,797 (GRCm39) |
D260G |
probably damaging |
Het |
| Lrch3 |
G |
A |
16: 32,770,766 (GRCm39) |
A123T |
probably damaging |
Het |
| Mark2 |
A |
T |
19: 7,260,813 (GRCm39) |
S408T |
probably benign |
Het |
| Nme8 |
A |
T |
13: 19,859,834 (GRCm39) |
V23E |
probably benign |
Het |
| Nod2 |
A |
T |
8: 89,402,091 (GRCm39) |
I912F |
probably damaging |
Het |
| Nxpe4 |
A |
G |
9: 48,305,446 (GRCm39) |
I279V |
probably benign |
Het |
| Oas3 |
A |
G |
5: 120,896,982 (GRCm39) |
F880L |
probably damaging |
Het |
| Or5ak23 |
C |
T |
2: 85,244,396 (GRCm39) |
V276M |
possibly damaging |
Het |
| Or6c6c |
A |
G |
10: 129,541,320 (GRCm39) |
H191R |
probably benign |
Het |
| Or8c11 |
T |
A |
9: 38,289,337 (GRCm39) |
N53K |
possibly damaging |
Het |
| Pcnt |
C |
T |
10: 76,211,064 (GRCm39) |
R2371H |
probably damaging |
Het |
| Prex2 |
A |
T |
1: 11,278,838 (GRCm39) |
N1389I |
possibly damaging |
Het |
| Prf1 |
A |
T |
10: 61,136,098 (GRCm39) |
N125Y |
probably damaging |
Het |
| Rap1b |
A |
G |
10: 117,660,507 (GRCm39) |
S17P |
probably damaging |
Het |
| Rhot2 |
G |
T |
17: 26,062,950 (GRCm39) |
Q63K |
probably damaging |
Het |
| Rnpepl1 |
C |
T |
1: 92,844,102 (GRCm39) |
L278F |
probably damaging |
Het |
| Slco1a6 |
A |
G |
6: 142,042,046 (GRCm39) |
L510P |
probably damaging |
Het |
| Ssc4d |
G |
A |
5: 135,993,517 (GRCm39) |
P113L |
possibly damaging |
Het |
| Sv2a |
A |
T |
3: 96,101,072 (GRCm39) |
N690I |
possibly damaging |
Het |
| Tbc1d24 |
T |
C |
17: 24,426,220 (GRCm39) |
Y452C |
probably benign |
Het |
| Tmem132d |
G |
T |
5: 127,860,832 (GRCm39) |
H1096Q |
probably benign |
Het |
| Tmem82 |
C |
A |
4: 141,343,775 (GRCm39) |
G165V |
probably benign |
Het |
| Tpo |
T |
A |
12: 30,169,448 (GRCm39) |
T96S |
possibly damaging |
Het |
| Triobp |
A |
G |
15: 78,857,618 (GRCm39) |
E1073G |
possibly damaging |
Het |
| Tspoap1 |
C |
T |
11: 87,668,801 (GRCm39) |
P1358L |
probably benign |
Het |
| Usp47 |
A |
G |
7: 111,692,658 (GRCm39) |
Y1020C |
probably damaging |
Het |
| Washc4 |
C |
A |
10: 83,390,627 (GRCm39) |
Y153* |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGACTGTGGAGGGAAGCTC -3'
(R):5'- TCTGGAACCATTGCCGTCAG -3'
Sequencing Primer
(F):5'- CAGGAGGTTTGTTGTGATCCAGAC -3'
(R):5'- TGTGGGACCACCTAACTCG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation