Incidental Mutation 'RF033:Prr5l'
| ID |
604430 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prr5l
|
| Ensembl Gene |
ENSMUSG00000032841 |
| Gene Name |
proline rich 5 like |
| Synonyms |
2600010E01Rik, 4833411O04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
RF033 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
101544630-101713372 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
GCCTC to G
at 101627918 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043845]
[ENSMUST00000124802]
[ENSMUST00000125985]
[ENSMUST00000144549]
[ENSMUST00000154525]
[ENSMUST00000163762]
[ENSMUST00000171088]
|
| AlphaFold |
A2AVJ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043845
|
| SMART Domains |
Protein: ENSMUSP00000042167
Gene: ENSMUSG00000032841
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
30 |
N/A |
INTRINSIC |
|
Pfam:HbrB
|
47 |
152 |
5.4e-15 |
PFAM |
|
low complexity region
|
164 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
332 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124802
|
| SMART Domains |
Protein: ENSMUSP00000118502
Gene: ENSMUSG00000032841
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
30 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125985
|
| SMART Domains |
Protein: ENSMUSP00000122996
Gene: ENSMUSG00000032841
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
30 |
N/A |
INTRINSIC |
|
Pfam:HbrB
|
45 |
128 |
3e-20 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000141814
|
| SMART Domains |
Protein: ENSMUSP00000118537
Gene: ENSMUSG00000032841
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
107 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144549
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154525
|
| SMART Domains |
Protein: ENSMUSP00000120192
Gene: ENSMUSG00000032841
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
30 |
N/A |
INTRINSIC |
|
Pfam:HbrB
|
45 |
95 |
2.8e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163762
|
| SMART Domains |
Protein: ENSMUSP00000127530
Gene: ENSMUSG00000032841
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
30 |
N/A |
INTRINSIC |
|
Pfam:HbrB
|
45 |
177 |
2.8e-36 |
PFAM |
|
low complexity region
|
323 |
332 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171088
|
| SMART Domains |
Protein: ENSMUSP00000130152
Gene: ENSMUSG00000032841
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
30 |
N/A |
INTRINSIC |
|
Pfam:HbrB
|
45 |
177 |
2.8e-36 |
PFAM |
|
low complexity region
|
323 |
332 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI837181 |
GCG |
GCGTCG |
19: 5,475,252 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
CG |
CGGTG |
19: 5,475,265 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
GGGG |
GGGGGGG |
17: 5,045,860 (GRCm39) |
|
probably benign |
Het |
| AY761185 |
CCCGGGCACT |
C |
8: 21,433,904 (GRCm39) |
|
probably benign |
Het |
| Chga |
AGC |
AGCTGC |
12: 102,527,655 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
CCT |
CCTTCT |
17: 46,811,780 (GRCm39) |
|
probably benign |
Het |
| Dbr1 |
GAGGAG |
GAGGAGTAGGAG |
9: 99,465,750 (GRCm39) |
|
probably null |
Het |
| Dcdc2b |
GCTGC |
GCTGCCAGGCCTGC |
4: 129,503,444 (GRCm39) |
|
probably benign |
Het |
| Dennd10 |
ACTC |
ACTCCTC |
19: 60,803,056 (GRCm39) |
|
probably benign |
Het |
| E4f1 |
AGGC |
AGGCGGC |
17: 24,674,157 (GRCm39) |
|
probably benign |
Het |
| Fbrsl1 |
GTG |
GTGAGTGTGCTGATG |
5: 110,525,991 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TTC |
TTCGTC |
X: 74,043,607 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,043,629 (GRCm39) |
|
probably benign |
Het |
| Gm47955 |
TGG |
TGGTTGTGGCGG |
1: 82,938,246 (GRCm39) |
|
probably benign |
Het |
| Gm5475 |
GAAAGGTGGAAGGAAA |
GAA |
15: 100,325,025 (GRCm39) |
|
probably null |
Het |
| Gm8369 |
GTGTGT |
GTGTGTCTGTGT |
19: 11,489,142 (GRCm39) |
|
probably benign |
Het |
| Heatr3 |
TTAT |
TTATGTAT |
8: 88,883,084 (GRCm39) |
|
probably benign |
Het |
| Il2 |
AGGTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
AGCTGCTGCTGCTGCTGCTGCTGCTG |
3: 37,179,913 (GRCm39) |
|
probably benign |
Het |
| Il2 |
GG |
GGGCTTGGAGTGTG |
3: 37,179,991 (GRCm39) |
|
probably benign |
Het |
| Lkaaear1 |
CCAGCTCCAGCT |
CCAGCTCCAGCTTCAGCTCCAGCT |
2: 181,339,381 (GRCm39) |
|
probably benign |
Het |
| Luzp1 |
A |
AGGTGTCCTCTTCAGC |
4: 136,270,507 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
GCA |
GCATCA |
X: 70,162,439 (GRCm39) |
|
probably benign |
Het |
| Map1a |
CAGCTCCAGCTCCAGCTCCA |
CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCGAGCTCCAGCTCCAGCTCCA |
2: 121,136,780 (GRCm39) |
|
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,402 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GC |
GCATC |
3: 59,183,416 (GRCm39) |
|
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,408 (GRCm39) |
|
probably benign |
Het |
| Nalf2 |
CG |
CGCCGCTG |
X: 98,864,979 (GRCm39) |
|
probably benign |
Het |
| Ncoa6 |
TGCAGC |
TGC |
2: 155,263,651 (GRCm39) |
|
probably benign |
Het |
| Nefh |
CCTCACCTGGGGACTTGG |
CCTCACCTGGGGACTTGGACTCACCTGGGGACTTGG |
11: 4,891,039 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GGGGACTTG |
GGGGACTTGTCCTCACCTGGGACTTG |
11: 4,891,029 (GRCm39) |
|
probably null |
Het |
| Nf2 |
AAAAG |
A |
11: 4,779,936 (GRCm39) |
|
probably null |
Het |
| Nusap1 |
GCAAGCTGAGA |
GCAAGCTGAGATACACGTTAGCAGTGAGGTTCAAGCTGAGA |
2: 119,458,081 (GRCm39) |
|
probably benign |
Het |
| P4ha3 |
GGGGG |
GGGGGG |
7: 99,960,017 (GRCm39) |
|
probably null |
Het |
| Pdia4 |
ATCCTCTTCCTC |
ATC |
6: 47,785,222 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
TTT |
TTTTTTTTTTCTT |
15: 44,421,902 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
TTG |
TTGTGGGACCAGGTATTGCGGGACCAGGTATTG |
2: 155,938,002 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
TG |
TGTGGGACCAGGTATTGCGGGACCAGGTATTG |
2: 155,938,003 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
G |
GTGGGACCAGGTATTGCGGGACCAGGTATTG |
2: 155,938,004 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
GTATTG |
GTATTGTGGGACCAGGTATTGCGGGACCAGGTATTG |
2: 155,937,999 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
TATTG |
TATTGTGGGACCAGGTATTGCGGGACCAGGCATTG |
2: 155,938,000 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
ATCCTCCCCAGTCCCGCAAGGCCAG |
ATCCTCCCCAGTCCCGCAAGGCCAGCGCTCCTCCCCAGTCCCGCAAGGCCAG |
5: 77,164,252 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
G |
GCGATCCTCCCCAGTCCCGCAAGGCCAC |
5: 77,164,276 (GRCm39) |
|
probably benign |
Het |
| Tmem59 |
TGTTT |
TGTTTGTTGGTTT |
4: 107,047,725 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Prr5l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02183:Prr5l
|
APN |
2 |
101,602,465 (GRCm39) |
splice site |
probably benign |
|
|
IGL02946:Prr5l
|
APN |
2 |
101,602,529 (GRCm39) |
splice site |
probably null |
|
|
PIT4618001:Prr5l
|
UTSW |
2 |
101,588,875 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0652:Prr5l
|
UTSW |
2 |
101,602,635 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0722:Prr5l
|
UTSW |
2 |
101,547,819 (GRCm39) |
splice site |
probably benign |
|
|
R0882:Prr5l
|
UTSW |
2 |
101,588,886 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1962:Prr5l
|
UTSW |
2 |
101,588,854 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3013:Prr5l
|
UTSW |
2 |
101,565,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4564:Prr5l
|
UTSW |
2 |
101,577,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4604:Prr5l
|
UTSW |
2 |
101,559,793 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4902:Prr5l
|
UTSW |
2 |
101,628,027 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5338:Prr5l
|
UTSW |
2 |
101,547,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6279:Prr5l
|
UTSW |
2 |
101,547,765 (GRCm39) |
nonsense |
probably null |
|
|
R6792:Prr5l
|
UTSW |
2 |
101,547,769 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7214:Prr5l
|
UTSW |
2 |
101,559,777 (GRCm39) |
missense |
probably benign |
|
|
R7299:Prr5l
|
UTSW |
2 |
101,547,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7301:Prr5l
|
UTSW |
2 |
101,547,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7672:Prr5l
|
UTSW |
2 |
101,565,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7702:Prr5l
|
UTSW |
2 |
101,547,442 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8086:Prr5l
|
UTSW |
2 |
101,571,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8116:Prr5l
|
UTSW |
2 |
101,627,919 (GRCm39) |
frame shift |
probably null |
|
|
R8297:Prr5l
|
UTSW |
2 |
101,571,630 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8470:Prr5l
|
UTSW |
2 |
101,547,430 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8753:Prr5l
|
UTSW |
2 |
101,571,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF028:Prr5l
|
UTSW |
2 |
101,627,918 (GRCm39) |
frame shift |
probably null |
|
|
RF039:Prr5l
|
UTSW |
2 |
101,627,918 (GRCm39) |
frame shift |
probably null |
|
|
X0018:Prr5l
|
UTSW |
2 |
101,547,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGAATGATGACTTCAGGCCC -3'
(R):5'- GAGAAACCACAGCGATGTGC -3'
Sequencing Primer
(F):5'- ATGATGACTTCAGGCCCTCCAG -3'
(R):5'- CGATGTGCACCGGACAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation