Incidental Mutation 'R2210:Prr12'
| ID |
239314 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prr12
|
| Ensembl Gene |
ENSMUSG00000046574 |
| Gene Name |
proline rich 12 |
| Synonyms |
|
| MMRRC Submission |
040212-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.486)
|
| Stock # |
R2210 (G1)
|
| Quality Score |
173 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44676987-44702305 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 44698775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007981]
[ENSMUST00000057293]
[ENSMUST00000209920]
[ENSMUST00000210500]
[ENSMUST00000210690]
[ENSMUST00000211337]
|
| 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: I380T
|
| SMART Domains |
Protein: ENSMUSP00000054702
Gene: ENSMUSG00000046574
AA Change: I380T
| 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: ENSMUST00000209920
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210500
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210690
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211084
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211337
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210016L21Rik |
C |
G |
5: 115,080,348 (GRCm39) |
R28G |
probably damaging |
Het |
| Adgrb1 |
C |
T |
15: 74,419,553 (GRCm39) |
A798V |
probably damaging |
Het |
| Ash1l |
G |
T |
3: 88,973,605 (GRCm39) |
D2555Y |
probably damaging |
Het |
| Atr |
G |
A |
9: 95,789,353 (GRCm39) |
R1503Q |
probably damaging |
Het |
| Cbln3 |
T |
A |
14: 56,121,383 (GRCm39) |
I88F |
possibly damaging |
Het |
| Cct7 |
G |
A |
6: 85,436,212 (GRCm39) |
G41D |
probably damaging |
Het |
| Cd1d2 |
G |
T |
3: 86,895,041 (GRCm39) |
A138S |
possibly damaging |
Het |
| Dct |
T |
C |
14: 118,280,561 (GRCm39) |
I152V |
probably benign |
Het |
| Dgkq |
C |
A |
5: 108,808,389 (GRCm39) |
R58L |
probably damaging |
Het |
| Emc10 |
G |
A |
7: 44,142,616 (GRCm39) |
R109W |
probably damaging |
Het |
| Gm4884 |
A |
T |
7: 40,692,970 (GRCm39) |
E313V |
possibly damaging |
Het |
| Hectd1 |
A |
T |
12: 51,853,245 (GRCm39) |
I92K |
probably damaging |
Het |
| Icam1 |
A |
G |
9: 20,930,329 (GRCm39) |
E61G |
probably damaging |
Het |
| Itgb2l |
C |
T |
16: 96,227,421 (GRCm39) |
V541M |
possibly damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,084,427 (GRCm39) |
E154G |
probably damaging |
Het |
| Majin |
C |
A |
19: 6,272,728 (GRCm39) |
H223N |
possibly damaging |
Het |
| Mc4r |
A |
T |
18: 66,992,466 (GRCm39) |
F216I |
probably damaging |
Het |
| Muc4 |
AG |
AGG |
16: 32,755,176 (GRCm38) |
|
probably null |
Het |
| Obscn |
A |
T |
11: 58,958,913 (GRCm39) |
V3379D |
probably damaging |
Het |
| Or8g30 |
A |
T |
9: 39,230,089 (GRCm39) |
S274T |
probably damaging |
Het |
| Pde4b |
A |
T |
4: 102,454,672 (GRCm39) |
N346I |
probably damaging |
Het |
| Pitpnm1 |
T |
C |
19: 4,155,253 (GRCm39) |
S331P |
probably damaging |
Het |
| Plcb2 |
T |
A |
2: 118,547,984 (GRCm39) |
I437F |
probably damaging |
Het |
| Pramel14 |
T |
A |
4: 143,720,789 (GRCm39) |
M51L |
probably benign |
Het |
| Pus7l |
T |
G |
15: 94,438,173 (GRCm39) |
D224A |
possibly damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,255,782 (GRCm39) |
S1007P |
possibly damaging |
Het |
| Stac |
G |
A |
9: 111,431,638 (GRCm39) |
P238S |
probably damaging |
Het |
| Tmem107 |
A |
G |
11: 68,962,096 (GRCm39) |
E45G |
possibly damaging |
Het |
| Tmt1b |
T |
A |
10: 128,794,591 (GRCm39) |
K244N |
probably damaging |
Het |
| Triml2 |
T |
C |
8: 43,636,397 (GRCm39) |
Y61H |
probably damaging |
Het |
| Uba2 |
T |
C |
7: 33,862,587 (GRCm39) |
D95G |
probably damaging |
Het |
| Ube2d3 |
T |
A |
3: 135,168,802 (GRCm39) |
D132E |
probably benign |
Het |
| Unc5d |
A |
G |
8: 29,251,825 (GRCm39) |
I216T |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCAAATCCTTGCCCGTAG -3'
(R):5'- AGGCAGCTATCCCTCAATGG -3'
Sequencing Primer
(F):5'- AGGGGAATATGCCTGGCTC -3'
(R):5'- CCTCAATGGGCCACCGG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation