Incidental Mutation 'R4094:Prr12'
| ID |
317798 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prr12
|
| Ensembl Gene |
ENSMUSG00000046574 |
| Gene Name |
proline rich 12 |
| Synonyms |
|
| MMRRC Submission |
041628-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.547)
|
| Stock # |
R4094 (G1)
|
| Quality Score |
170 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44676987-44702305 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44697371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 848
(L848P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054702
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057293]
|
| AlphaFold |
E9PYL2 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000057293
AA Change: L848P
|
| SMART Domains |
Protein: ENSMUSP00000054702
Gene: ENSMUSG00000046574
AA Change: L848P
| 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: 98.6%
- 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
G |
11: 110,071,192 (GRCm39) |
C1500R |
probably damaging |
Het |
| Amz1 |
A |
T |
5: 140,737,921 (GRCm39) |
M93L |
probably damaging |
Het |
| Asb18 |
A |
T |
1: 89,942,147 (GRCm39) |
N51K |
probably damaging |
Het |
| Bcl11b |
G |
T |
12: 107,883,094 (GRCm39) |
P335Q |
probably damaging |
Het |
| Bsn |
A |
C |
9: 107,991,069 (GRCm39) |
V1561G |
probably damaging |
Het |
| Cadm2 |
A |
T |
16: 66,679,685 (GRCm39) |
N49K |
probably damaging |
Het |
| Cct8 |
T |
G |
16: 87,284,516 (GRCm39) |
I283L |
possibly damaging |
Het |
| Cdc25b |
A |
G |
2: 131,031,037 (GRCm39) |
M121V |
probably benign |
Het |
| Cpne4 |
A |
G |
9: 104,563,734 (GRCm39) |
D37G |
probably damaging |
Het |
| Cym |
A |
G |
3: 107,121,582 (GRCm39) |
S237P |
probably benign |
Het |
| Dhx35 |
T |
A |
2: 158,684,276 (GRCm39) |
I517N |
probably damaging |
Het |
| Ehf |
T |
C |
2: 103,121,095 (GRCm39) |
|
probably benign |
Het |
| Erp29 |
A |
G |
5: 121,590,345 (GRCm39) |
|
probably benign |
Het |
| Fgd6 |
C |
A |
10: 93,879,296 (GRCm39) |
P50Q |
probably damaging |
Het |
| Fhip1b |
T |
C |
7: 105,037,425 (GRCm39) |
D386G |
probably damaging |
Het |
| Foxn3 |
G |
T |
12: 99,162,700 (GRCm39) |
D400E |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,615,843 (GRCm39) |
Y1031C |
probably damaging |
Het |
| Gna13 |
T |
A |
11: 109,287,242 (GRCm39) |
I355N |
probably damaging |
Het |
| Hgs |
T |
A |
11: 120,359,859 (GRCm39) |
L21* |
probably null |
Het |
| Htr2a |
G |
A |
14: 74,943,789 (GRCm39) |
M456I |
probably benign |
Het |
| Itga2 |
T |
C |
13: 115,007,161 (GRCm39) |
D389G |
probably benign |
Het |
| Kdm1b |
T |
C |
13: 47,216,496 (GRCm39) |
C289R |
probably damaging |
Het |
| Kdm4c |
T |
A |
4: 74,229,915 (GRCm39) |
D237E |
probably benign |
Het |
| Lilrb4b |
A |
T |
10: 51,357,506 (GRCm39) |
E114V |
probably damaging |
Het |
| Loxl1 |
G |
A |
9: 58,219,739 (GRCm39) |
T144I |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,353,062 (GRCm39) |
R1784Q |
probably benign |
Het |
| Maml2 |
G |
A |
9: 13,531,449 (GRCm39) |
S221N |
probably benign |
Het |
| Map3k1 |
A |
G |
13: 111,892,696 (GRCm39) |
M853T |
possibly damaging |
Het |
| Micu3 |
T |
G |
8: 40,788,929 (GRCm39) |
S147A |
probably null |
Het |
| Nccrp1 |
T |
C |
7: 28,243,651 (GRCm39) |
Y261C |
possibly damaging |
Het |
| Or51aa5 |
T |
A |
7: 103,167,244 (GRCm39) |
I116F |
possibly damaging |
Het |
| Or5m5 |
A |
G |
2: 85,814,562 (GRCm39) |
Y126C |
probably damaging |
Het |
| Or8k18 |
T |
C |
2: 86,085,674 (GRCm39) |
D121G |
probably damaging |
Het |
| Or8s10 |
T |
C |
15: 98,335,563 (GRCm39) |
L71P |
probably damaging |
Het |
| Pclo |
C |
A |
5: 14,905,659 (GRCm39) |
T4963N |
unknown |
Het |
| Pdxk |
T |
C |
10: 78,300,644 (GRCm39) |
H13R |
probably damaging |
Het |
| Plcg1 |
A |
G |
2: 160,589,761 (GRCm39) |
E95G |
probably damaging |
Het |
| Ppargc1a |
T |
C |
5: 51,647,406 (GRCm39) |
N276S |
possibly damaging |
Het |
| Ptcd2 |
A |
G |
13: 99,468,957 (GRCm39) |
I202T |
probably damaging |
Het |
| Rab27a |
A |
C |
9: 72,982,826 (GRCm39) |
I44L |
probably damaging |
Het |
| Rbfox2 |
A |
T |
15: 77,016,925 (GRCm39) |
S82T |
probably damaging |
Het |
| Rsbn1 |
T |
A |
3: 103,835,974 (GRCm39) |
F337L |
probably damaging |
Het |
| Samd8 |
T |
C |
14: 21,843,113 (GRCm39) |
I414T |
probably damaging |
Het |
| Sema3e |
A |
G |
5: 14,283,704 (GRCm39) |
I478V |
probably benign |
Het |
| Sfswap |
A |
G |
5: 129,637,805 (GRCm39) |
S821G |
possibly damaging |
Het |
| Slc2a3 |
A |
T |
6: 122,712,527 (GRCm39) |
I239N |
probably benign |
Het |
| Spc25 |
G |
A |
2: 69,032,975 (GRCm39) |
S50L |
probably damaging |
Het |
| St8sia4 |
A |
T |
1: 95,555,411 (GRCm39) |
S206R |
possibly damaging |
Het |
| Syngr3 |
G |
A |
17: 24,908,817 (GRCm39) |
|
probably benign |
Het |
| Tigd4 |
A |
G |
3: 84,501,947 (GRCm39) |
D288G |
probably damaging |
Het |
| Trim34b |
A |
G |
7: 103,983,795 (GRCm39) |
M251V |
probably benign |
Het |
| Ttll5 |
A |
T |
12: 86,003,376 (GRCm39) |
R214* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,730,860 (GRCm39) |
|
probably benign |
Het |
| Vmp1 |
A |
G |
11: 86,534,406 (GRCm39) |
I167T |
probably benign |
Het |
| Zfp64 |
T |
C |
2: 168,767,855 (GRCm39) |
T586A |
probably benign |
Het |
| Zfp943 |
T |
A |
17: 22,211,963 (GRCm39) |
C350S |
probably damaging |
Het |
| Zscan4f |
A |
T |
7: 11,135,185 (GRCm39) |
N197I |
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 |
|
|
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'- CGTCCTGAAGCAATGAGTCG -3'
(R):5'- TTCTTGCAGAAGAGCCCAC -3'
Sequencing Primer
(F):5'- TACAAACCGCGGTGCCTTG -3'
(R):5'- GACCTTCCCATGGTGCTG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation