Incidental Mutation 'RF028:Prr5l'
| ID |
604213 |
| 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: 0.079)
|
| Stock # |
RF028 (G1)
|
| Quality Score |
214.458 |
|
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: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
GCTGTG |
GCTGTGCCTCCTGTG |
1: 82,891,299 (GRCm39) |
|
probably benign |
Het |
| A030005L19Rik |
TGTGGCTGC |
TGTGGCTGCCGTGGCTGC |
1: 82,891,301 (GRCm39) |
|
probably benign |
Het |
| Acap3 |
TGCATCCTGGGCTGC |
TGCATCCTGGGCTGCAGCATCCTGGGCTGC |
4: 155,989,548 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
C |
CGGG |
17: 5,045,873 (GRCm39) |
|
probably benign |
Het |
| Blm |
CCTCCTCCTCCTCCTCCTCCTCCT |
CCTCCTCCTCCTACTCCTCCTCCTCCTCCTCCTCCT |
7: 80,162,653 (GRCm39) |
|
probably null |
Het |
| Boc |
GAC |
G |
16: 44,316,796 (GRCm39) |
|
probably null |
Het |
| Cacna1f |
GAG |
GAGAAG |
X: 7,486,299 (GRCm39) |
|
probably benign |
Het |
| Cacna1f |
GAG |
GAGAAG |
X: 7,486,302 (GRCm39) |
|
probably benign |
Het |
| Catsper2 |
ATCGCTTTCCTCGTTTTCG |
ATCG |
2: 121,228,207 (GRCm39) |
|
probably benign |
Het |
| Dbr1 |
GAGGAG |
GAGGAGTAGGAG |
9: 99,465,750 (GRCm39) |
|
probably null |
Het |
| E4f1 |
CGC |
CGCGGC |
17: 24,674,164 (GRCm39) |
|
probably benign |
Het |
| Eps8 |
TCGCTC |
TCGCTCGCTC |
6: 137,494,061 (GRCm39) |
|
probably benign |
Het |
| Ermn |
AACT |
AACTACT |
2: 57,938,078 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA |
TAGATGTGAAACTCTTAGAGGTAAGA |
2: 82,824,352 (GRCm39) |
|
probably null |
Het |
| Gab3 |
CTTCTT |
CTTATTCTT |
X: 74,043,606 (GRCm39) |
|
probably null |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,043,623 (GRCm39) |
|
probably benign |
Het |
| Gabre |
CTC |
CTCTGGGTC |
X: 71,314,369 (GRCm39) |
|
probably benign |
Het |
| Gm7579 |
GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG |
GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG |
7: 141,765,782 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
TG |
TGGGTGAG |
19: 11,489,137 (GRCm39) |
|
probably null |
Het |
| Hsdl2 |
CAGCTGCAG |
CAGCTGCAGCAGCAGCCATAGCTGCAG |
4: 59,610,650 (GRCm39) |
|
probably null |
Het |
| Iqcf4 |
TTTTCCTTTT |
TTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCGTTTCCTTTT |
9: 106,447,813 (GRCm39) |
|
probably benign |
Het |
| Kmt2e |
TTT |
TTTTATT |
5: 23,683,507 (GRCm39) |
|
probably benign |
Het |
| Kri1 |
CTCCTCCT |
C |
9: 21,192,367 (GRCm39) |
|
probably null |
Het |
| Krtap28-10 |
AGCCACAGCCACCACAGCCACAGCCACCAC |
AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC |
1: 83,019,979 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
GTTGCTGCCACTG |
GTTGCTGCCACTGTTGCTGCCACTG |
3: 92,925,438 (GRCm39) |
|
probably benign |
Het |
| Loricrin |
CGCCGCCT |
C |
3: 91,989,206 (GRCm39) |
|
probably null |
Het |
| Luzp1 |
A |
AGGTGGCCTCTTCAGG |
4: 136,270,507 (GRCm39) |
|
probably benign |
Het |
| Lypd8 |
CCAACA |
CCAACAGGTCCCTCGCCTCTGTTACCCCACAAATAAACAACA |
11: 58,281,065 (GRCm39) |
|
probably benign |
Het |
| Mn1 |
CAG |
CAGGAG |
5: 111,567,577 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGGACTTGGCCTCACCTGTGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,012 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGGGACTTGGCCTCACCTTGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,029 (GRCm39) |
|
probably benign |
Het |
| Nf2 |
AAAAG |
A |
11: 4,779,936 (GRCm39) |
|
probably null |
Het |
| Nusap1 |
AGAT |
AGATCCACGTTAGCAGTGAGGAGCAAGCTGCGAT |
2: 119,458,059 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
CAGTGAGGAGCAAGCTGAGA |
CAGTGAGGAGCAAGCTGAGATACACGTTAGTAGTGAGGAGCAAGCTGAGA |
2: 119,458,072 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
CCCCCC |
CCCCCCGCCCCC |
2: 156,146,543 (GRCm39) |
|
probably benign |
Het |
| Ppp1r8 |
TCTCTCTCAC |
TC |
4: 132,557,926 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
CGGGACCGGGCATTGCGGGACCGGGCATTGCGGG |
CGG |
2: 155,938,050 (GRCm39) |
|
probably null |
Het |
| Rpgrip1 |
GA |
GAGTA |
14: 52,386,855 (GRCm39) |
|
probably null |
Het |
| Spmap2l |
AGCGATCCTCCCCAGTCCCGCAAGGCC |
AGCGATCCTCCCCAGTCCCGCAAGGCCCGCGATCCTCCCCAGTCCCGCAAGGCC |
5: 77,164,248 (GRCm39) |
|
probably benign |
Het |
| Tanc1 |
GTGAGCAGAAACCAGCATTTAGAGGGAACCGGTCCCTTCACTGCAGGAA |
G |
2: 59,673,613 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCATCA |
17: 48,097,022 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
T |
TTGTCTTGTCAGAATCACCTCCTGG |
6: 72,593,019 (GRCm39) |
|
probably benign |
Het |
| Tob1 |
CACA |
CACAACA |
11: 94,105,277 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
GCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
15: 72,673,139 (GRCm39) |
|
probably benign |
Het |
| Triobp |
CAGGACT |
CAGGACTGCCTGTGCCCAACGGAACAACCCAAGGACT |
15: 78,851,239 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
AACAGCAGC |
AACAGCAGCTACAGCAGC |
8: 109,682,728 (GRCm39) |
|
probably benign |
Het |
| Zfp933 |
TT |
TTTGCCT |
4: 147,910,188 (GRCm39) |
|
probably null |
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 |
|
RF033: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'- TTGCAGAATGATGACTTCAGGCC -3'
(R):5'- GAGAAACCACAGCGATGTGC -3'
Sequencing Primer
(F):5'- ATGATGACTTCAGGCCCTCCAG -3'
(R):5'- CGATGTGCACCGGACAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation