Incidental Mutation 'R6497:Prr14'
| ID |
523066 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prr14
|
| Ensembl Gene |
ENSMUSG00000030822 |
| Gene Name |
proline rich 14 |
| Synonyms |
|
| MMRRC Submission |
044629-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R6497 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
127070189-127075932 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 127073750 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 205
(R205C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033095]
[ENSMUST00000106292]
[ENSMUST00000133817]
[ENSMUST00000133938]
[ENSMUST00000205432]
[ENSMUST00000206915]
|
| AlphaFold |
Q7TPN9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033095
AA Change: R205C
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000033095
Gene: ENSMUSG00000030822
AA Change: R205C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
241 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
263 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
364 |
387 |
N/A |
INTRINSIC |
|
Pfam:Tantalus
|
485 |
545 |
5.6e-28 |
PFAM |
|
low complexity region
|
554 |
564 |
N/A |
INTRINSIC |
|
low complexity region
|
587 |
603 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106292
AA Change: R205C
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000101899
Gene: ENSMUSG00000030822
AA Change: R205C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
241 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
263 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
364 |
387 |
N/A |
INTRINSIC |
|
Pfam:Tantalus
|
487 |
544 |
1.7e-26 |
PFAM |
|
low complexity region
|
554 |
564 |
N/A |
INTRINSIC |
|
low complexity region
|
587 |
603 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128805
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132124
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000132819
AA Change: T116M
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133817
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133938
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147202
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205432
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206118
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142532
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206915
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.5%
|
| Validation Efficiency |
98% (42/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene tethers heterochromatin to the nuclear laminar scaffold by binding heterochromatin protein 1 (HP1) and the nuclear lamina. The tether is broken during mitosis and reforms quickly after mitosis, with the encoded protein first binding HP1 and then attaching to the nuclear lamina. This protein also has been shown to promote MyoD activity and skeletal myogenesis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
A |
19: 43,793,544 (GRCm39) |
Y399N |
probably damaging |
Het |
| Acsm3 |
G |
A |
7: 119,379,972 (GRCm39) |
|
probably null |
Het |
| Aldh16a1 |
T |
A |
7: 44,794,361 (GRCm39) |
S556C |
possibly damaging |
Het |
| Armc7 |
T |
C |
11: 115,367,077 (GRCm39) |
I74T |
probably benign |
Het |
| Atp13a4 |
T |
C |
16: 29,298,719 (GRCm39) |
D80G |
probably damaging |
Het |
| Bicral |
A |
T |
17: 47,136,499 (GRCm39) |
I237K |
probably damaging |
Het |
| Caskin1 |
T |
C |
17: 24,723,522 (GRCm39) |
V770A |
probably benign |
Het |
| Cd209c |
T |
C |
8: 3,994,122 (GRCm39) |
K113E |
possibly damaging |
Het |
| Cdh20 |
G |
A |
1: 109,993,528 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
A |
T |
3: 144,465,020 (GRCm39) |
V71D |
possibly damaging |
Het |
| Cntnap5a |
T |
C |
1: 116,505,627 (GRCm39) |
L1228P |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,025,584 (GRCm39) |
N85D |
possibly damaging |
Het |
| Coch |
G |
A |
12: 51,649,504 (GRCm39) |
V272M |
probably benign |
Het |
| Col22a1 |
T |
C |
15: 71,762,425 (GRCm39) |
E78G |
possibly damaging |
Het |
| Cyp2c66 |
T |
A |
19: 39,151,821 (GRCm39) |
C179S |
probably damaging |
Het |
| Dsg3 |
A |
G |
18: 20,670,305 (GRCm39) |
I681V |
probably benign |
Het |
| Egflam |
A |
T |
15: 7,280,784 (GRCm39) |
|
probably null |
Het |
| Fut10 |
T |
A |
8: 31,726,278 (GRCm39) |
D344E |
probably damaging |
Het |
| Gad2 |
C |
T |
2: 22,558,269 (GRCm39) |
P329L |
probably damaging |
Het |
| Gm14393 |
T |
C |
2: 174,903,427 (GRCm39) |
E160G |
possibly damaging |
Het |
| Gprc6a |
T |
C |
10: 51,491,797 (GRCm39) |
I476V |
probably benign |
Het |
| Limk2 |
A |
G |
11: 3,310,492 (GRCm39) |
F71L |
probably benign |
Het |
| Neb |
A |
T |
2: 52,148,301 (GRCm39) |
N2648K |
possibly damaging |
Het |
| Or51f5 |
T |
A |
7: 102,424,657 (GRCm39) |
F309I |
probably benign |
Het |
| Or52d1 |
T |
C |
7: 103,756,422 (GRCm39) |
|
probably benign |
Het |
| Or8d1b |
G |
A |
9: 38,887,490 (GRCm39) |
V173I |
probably benign |
Het |
| Pcdhgb7 |
T |
A |
18: 37,886,906 (GRCm39) |
V692E |
probably damaging |
Het |
| Pclo |
A |
C |
5: 14,843,869 (GRCm39) |
K4802Q |
unknown |
Het |
| Primpol |
A |
T |
8: 47,039,376 (GRCm39) |
|
probably null |
Het |
| Rbm12b1 |
T |
C |
4: 12,146,431 (GRCm39) |
I801T |
probably benign |
Het |
| Ror2 |
A |
T |
13: 53,285,955 (GRCm39) |
N86K |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Sh2d4b |
A |
G |
14: 40,596,139 (GRCm39) |
V81A |
probably benign |
Het |
| Skint6 |
A |
G |
4: 113,093,595 (GRCm39) |
Y183H |
probably damaging |
Het |
| Snapc3 |
G |
T |
4: 83,371,363 (GRCm39) |
E388* |
probably null |
Het |
| Srrm4 |
A |
T |
5: 116,605,550 (GRCm39) |
S236T |
unknown |
Het |
| Srrt |
G |
T |
5: 137,295,768 (GRCm39) |
P193H |
probably damaging |
Het |
| Sspo |
A |
T |
6: 48,472,142 (GRCm39) |
T810S |
possibly damaging |
Het |
| Stk36 |
A |
G |
1: 74,642,391 (GRCm39) |
H6R |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,557,102 (GRCm39) |
T1181A |
probably damaging |
Het |
| Tmem184a |
A |
G |
5: 139,798,755 (GRCm39) |
F65L |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,333,841 (GRCm39) |
I1330M |
probably benign |
Het |
| Zfp827 |
T |
A |
8: 79,906,757 (GRCm39) |
M923K |
probably damaging |
Het |
|
| Other mutations in Prr14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00551:Prr14
|
APN |
7 |
127,073,819 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01614:Prr14
|
APN |
7 |
127,074,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01655:Prr14
|
APN |
7 |
127,074,939 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02273:Prr14
|
APN |
7 |
127,075,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03033:Prr14
|
APN |
7 |
127,071,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0364:Prr14
|
UTSW |
7 |
127,073,751 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0376:Prr14
|
UTSW |
7 |
127,075,815 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0448:Prr14
|
UTSW |
7 |
127,073,898 (GRCm39) |
unclassified |
probably benign |
|
|
R0555:Prr14
|
UTSW |
7 |
127,071,267 (GRCm39) |
unclassified |
probably benign |
|
|
R1462:Prr14
|
UTSW |
7 |
127,073,160 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1462:Prr14
|
UTSW |
7 |
127,073,160 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1534:Prr14
|
UTSW |
7 |
127,073,154 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1982:Prr14
|
UTSW |
7 |
127,074,662 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2357:Prr14
|
UTSW |
7 |
127,074,535 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4729:Prr14
|
UTSW |
7 |
127,073,868 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5582:Prr14
|
UTSW |
7 |
127,075,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5757:Prr14
|
UTSW |
7 |
127,074,725 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6987:Prr14
|
UTSW |
7 |
127,072,977 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7202:Prr14
|
UTSW |
7 |
127,075,648 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7376:Prr14
|
UTSW |
7 |
127,075,749 (GRCm39) |
missense |
probably benign |
|
|
R7380:Prr14
|
UTSW |
7 |
127,075,614 (GRCm39) |
missense |
probably null |
1.00 |
|
R7426:Prr14
|
UTSW |
7 |
127,074,458 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7470:Prr14
|
UTSW |
7 |
127,074,997 (GRCm39) |
missense |
probably null |
1.00 |
|
R8322:Prr14
|
UTSW |
7 |
127,072,999 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8780:Prr14
|
UTSW |
7 |
127,075,410 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9488:Prr14
|
UTSW |
7 |
127,073,687 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9665:Prr14
|
UTSW |
7 |
127,073,091 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9790:Prr14
|
UTSW |
7 |
127,071,128 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R9791:Prr14
|
UTSW |
7 |
127,071,128 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTTTGATGAAGATCAGCCCAAC -3'
(R):5'- CAAGCTTAACCGTGGCAGTTC -3'
Sequencing Primer
(F):5'- GATGAAGATCAGCCCAACCTCATTG -3'
(R):5'- GGCAGTTCCAAATTCTTCAGTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation