Incidental Mutation 'R4522:Mark2'
| ID | 334280 |
|---|
| Institutional Source |
Beutler Lab
|
|---|
| Gene Symbol |
Mark2
|
|---|
| Ensembl Gene |
ENSMUSG00000024969 |
|---|
| Gene Name | MAP/microtubule affinity regulating kinase 2 |
|---|
| Synonyms | Emk, Par-1 |
|---|
| MMRRC Submission |
041765-MU
|
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Probably essential (E-score: 0.905)
|
|---|
| Stock # | R4522 (G1)
|
|---|
| Quality Score | 225 |
|---|
| Status |
Not validated
|
|---|
| Chromosome | 19 |
|---|
| Chromosomal Location | 7275396-7341860 bp(-) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
A to T
at 7285948 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 151
(D151E)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129894
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025921]
[ENSMUST00000032557]
[ENSMUST00000051711]
[ENSMUST00000164129]
[ENSMUST00000164205]
[ENSMUST00000165286]
[ENSMUST00000165965]
[ENSMUST00000165989]
[ENSMUST00000166461]
[ENSMUST00000167767]
[ENSMUST00000168324]
[ENSMUST00000171393]
[ENSMUST00000168872]
[ENSMUST00000169541]
[ENSMUST00000171352]
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025921
AA Change: D151E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000025921
Gene: ENSMUSG00000024969
AA Change: D151E
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
271 |
1.59e-108 |
SMART |
|
UBA
|
292 |
329 |
7.69e-7 |
SMART |
|
low complexity region
|
475 |
489 |
N/A |
INTRINSIC |
|
low complexity region
|
532 |
545 |
N/A |
INTRINSIC |
|
Pfam:KA1
|
697 |
743 |
2.5e-21 |
PFAM |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032557
AA Change: D184E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000032557
Gene: ENSMUSG00000024969
AA Change: D184E
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
53 |
304 |
1.59e-108 |
SMART |
|
UBA
|
325 |
362 |
7.69e-7 |
SMART |
|
low complexity region
|
511 |
524 |
N/A |
INTRINSIC |
|
Pfam:KA1
|
685 |
731 |
5.4e-22 |
PFAM |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051711
AA Change: D184E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000108969
Gene: ENSMUSG00000024969
AA Change: D184E
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
53 |
304 |
1.59e-108 |
SMART |
|
UBA
|
325 |
362 |
7.69e-7 |
SMART |
|
low complexity region
|
508 |
522 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
578 |
N/A |
INTRINSIC |
|
Pfam:KA1
|
730 |
776 |
6.6e-22 |
PFAM |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163345
|
|---|
| SMART Domains |
Protein: ENSMUSP00000125944
Gene: ENSMUSG00000024969
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
71 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164129
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164205
AA Change: D184E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000127827
Gene: ENSMUSG00000024969
AA Change: D184E
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
53 |
304 |
1.59e-108 |
SMART |
|
UBA
|
325 |
362 |
7.69e-7 |
SMART |
|
low complexity region
|
511 |
524 |
N/A |
INTRINSIC |
|
Pfam:KA1
|
676 |
722 |
5.4e-22 |
PFAM |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165286
AA Change: D184E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000126468
Gene: ENSMUSG00000024969
AA Change: D184E
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
53 |
304 |
1.59e-108 |
SMART |
|
UBA
|
325 |
362 |
7.69e-7 |
SMART |
|
low complexity region
|
511 |
524 |
N/A |
INTRINSIC |
|
Pfam:KA1
|
670 |
716 |
6e-22 |
PFAM |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165881
|
|---|
| SMART Domains |
Protein: ENSMUSP00000126753
Gene: ENSMUSG00000024969
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
88 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
145 |
158 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165965
AA Change: D184E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000131684
Gene: ENSMUSG00000024969
AA Change: D184E
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
53 |
304 |
1.59e-108 |
SMART |
|
UBA
|
325 |
362 |
7.69e-7 |
SMART |
|
low complexity region
|
508 |
522 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
578 |
N/A |
INTRINSIC |
|
Pfam:KA1
|
732 |
776 |
7.2e-24 |
PFAM |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165989
|
|---|
| SMART Domains |
Protein: ENSMUSP00000129924
Gene: ENSMUSG00000024969
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
53 |
89 |
1.1e-6 |
PFAM |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166461
|
|---|
| SMART Domains |
Protein: ENSMUSP00000128549
Gene: ENSMUSG00000024969
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
115 |
N/A |
INTRINSIC |
|
Pfam:KA1
|
261 |
307 |
1.9e-22 |
PFAM |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167767
|
|---|
| SMART Domains |
Protein: ENSMUSP00000132482
Gene: ENSMUSG00000024969
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
66 |
N/A |
INTRINSIC |
|
PDB:3OSE|A
|
220 |
264 |
1e-18 |
PDB |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168324
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171393
AA Change: D151E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000129894
Gene: ENSMUSG00000024969
AA Change: D151E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
20 |
193 |
1.2e-59 |
PFAM |
|
Pfam:Pkinase_Tyr
|
20 |
193 |
1.2e-35 |
PFAM |
|
Pfam:RIO1
|
30 |
174 |
3e-7 |
PFAM |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168852
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168872
AA Change: D184E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000128560
Gene: ENSMUSG00000024969
AA Change: D184E
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
53 |
304 |
1.59e-108 |
SMART |
|
UBA
|
325 |
362 |
7.69e-7 |
SMART |
|
low complexity region
|
511 |
524 |
N/A |
INTRINSIC |
|
Pfam:KA1
|
661 |
707 |
5.9e-22 |
PFAM |
|
|---|
| Predicted Effect |
unknown
Transcript: ENSMUST00000171721
AA Change: D174E
|
|---|
| SMART Domains |
Protein: ENSMUSP00000129506
Gene: ENSMUSG00000024969
AA Change: D174E
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
44 |
295 |
1.59e-108 |
SMART |
|
UBA
|
316 |
353 |
7.69e-7 |
SMART |
|
low complexity region
|
499 |
513 |
N/A |
INTRINSIC |
|
low complexity region
|
556 |
569 |
N/A |
INTRINSIC |
|
Pfam:KA1
|
732 |
776 |
7.2e-24 |
PFAM |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170768
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169541
|
|---|
| SMART Domains |
Protein: ENSMUSP00000128779
Gene: ENSMUSG00000024969
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
53 |
110 |
1.7e-12 |
PFAM |
|
Pfam:Pkinase_Tyr
|
53 |
110 |
7.2e-8 |
PFAM |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171352
|
|---|
| SMART Domains |
Protein: ENSMUSP00000129490
Gene: ENSMUSG00000024969
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
127 |
140 |
N/A |
INTRINSIC |
|
|---|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
|---|
| Validation Efficiency |
|
|---|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Par-1 family of serine/threonine protein kinases. The protein is an important regulator of cell polarity in epithelial and neuronal cells, and also controls the stability of microtubules through phosphorylation and inactivation of several microtubule-associating proteins. The protein localizes to cell membranes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit proportionate dwarfism with smaller pituitaries and reduced growth hormone and prolactin secretion. Mutants develop autoimmunity and fail to breed when mated to each other. [provided by MGI curators]
|
|---|
| Allele List at MGI | |
|---|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ascc3 |
A |
G |
10: 50,660,670 |
N700D |
probably benign |
Het |
| Babam2 |
G |
A |
5: 32,007,242 |
V287M |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 86,189,801 |
I146M |
possibly damaging |
Het |
| Cacna1b |
C |
T |
2: 24,654,430 |
R1248H |
probably damaging |
Het |
| Ccdc88c |
G |
T |
12: 100,913,332 |
S1843R |
possibly damaging |
Het |
| Chaf1b |
G |
A |
16: 93,901,295 |
A485T |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,962,224 |
R1594G |
probably damaging |
Het |
| Fam122c |
G |
A |
X: 53,293,499 |
R94H |
possibly damaging |
Het |
| Fbxo41 |
A |
G |
6: 85,484,042 |
I228T |
probably damaging |
Het |
| Gm3739 |
T |
A |
14: 7,299,398 |
K86* |
probably null |
Het |
| Gm7173 |
A |
T |
X: 79,509,995 |
N291K |
possibly damaging |
Het |
| Nop2 |
G |
T |
6: 125,133,552 |
R47L |
probably damaging |
Het |
| Nwd1 |
A |
T |
8: 72,670,951 |
D606V |
probably damaging |
Het |
| Olfr1132 |
T |
A |
2: 87,635,151 |
I199L |
probably benign |
Het |
| Pcbp1 |
T |
C |
6: 86,525,050 |
N289S |
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,524,319 |
S21P |
possibly damaging |
Het |
| Ptpn18 |
T |
C |
1: 34,472,960 |
L55P |
probably benign |
Het |
| Rpl10l |
T |
C |
12: 66,283,738 |
D207G |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,147,663 |
C537R |
probably damaging |
Het |
| Sec23b |
T |
A |
2: 144,578,366 |
I450N |
possibly damaging |
Het |
| Speg |
A |
G |
1: 75,428,330 |
E2922G |
probably damaging |
Het |
| Spem1 |
C |
A |
11: 69,821,805 |
|
probably null |
Het |
| Stxbp3-ps |
A |
T |
19: 9,559,110 |
|
noncoding transcript |
Het |
| Tmem38a |
C |
T |
8: 72,572,161 |
P20S |
possibly damaging |
Het |
| Tmod2 |
T |
C |
9: 75,592,584 |
T129A |
probably benign |
Het |
| Ttc28 |
A |
G |
5: 111,280,172 |
T1845A |
probably benign |
Het |
| Ubqlnl |
C |
T |
7: 104,149,718 |
V191M |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,864,625 |
T3854M |
probably damaging |
Het |
| Vmn2r72 |
T |
A |
7: 85,751,926 |
H95L |
probably benign |
Het |
| Xdh |
C |
A |
17: 73,898,344 |
G1042V |
probably damaging |
Het |
| Zfp105 |
T |
A |
9: 122,930,056 |
V264E |
possibly damaging |
Het |
|
|---|
| Other mutations in Mark2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00567:Mark2
|
APN |
19 |
7341184 |
missense |
possibly damaging |
0.53 |
|
IGL01522:Mark2
|
APN |
19 |
7281238 |
missense |
probably benign |
0.06 |
|
IGL02368:Mark2
|
APN |
19 |
7284490 |
missense |
probably damaging |
1.00 |
|
IGL02836:Mark2
|
APN |
19 |
7278040 |
critical splice donor site |
probably null |
|
|
IGL03233:Mark2
|
APN |
19 |
7284726 |
missense |
possibly damaging |
0.89 |
|
Unprintable
|
UTSW |
19 |
7285902 |
missense |
probably damaging |
1.00 |
|
R0015:Mark2
|
UTSW |
19 |
7285777 |
nonsense |
probably null |
|
|
R0025:Mark2
|
UTSW |
19 |
7285922 |
missense |
probably damaging |
1.00 |
|
R0025:Mark2
|
UTSW |
19 |
7285922 |
missense |
probably damaging |
1.00 |
|
R0035:Mark2
|
UTSW |
19 |
7284652 |
splice site |
probably benign |
|
|
R0035:Mark2
|
UTSW |
19 |
7284652 |
splice site |
probably benign |
|
|
R0047:Mark2
|
UTSW |
19 |
7283577 |
splice site |
probably benign |
|
|
R0047:Mark2
|
UTSW |
19 |
7283577 |
splice site |
probably benign |
|
|
R0335:Mark2
|
UTSW |
19 |
7281828 |
missense |
probably benign |
0.27 |
|
R0627:Mark2
|
UTSW |
19 |
7281960 |
critical splice acceptor site |
probably null |
|
|
R0734:Mark2
|
UTSW |
19 |
7285981 |
splice site |
probably benign |
|
|
R0744:Mark2
|
UTSW |
19 |
7285824 |
missense |
probably damaging |
1.00 |
|
R0836:Mark2
|
UTSW |
19 |
7285824 |
missense |
probably damaging |
1.00 |
|
R1099:Mark2
|
UTSW |
19 |
7277425 |
missense |
probably benign |
0.41 |
|
R1861:Mark2
|
UTSW |
19 |
7290763 |
missense |
possibly damaging |
0.73 |
|
R1873:Mark2
|
UTSW |
19 |
7284515 |
missense |
probably damaging |
1.00 |
|
R2160:Mark2
|
UTSW |
19 |
7282747 |
missense |
probably damaging |
1.00 |
|
R2161:Mark2
|
UTSW |
19 |
7282747 |
missense |
probably damaging |
1.00 |
|
R2162:Mark2
|
UTSW |
19 |
7282747 |
missense |
probably damaging |
1.00 |
|
R2308:Mark2
|
UTSW |
19 |
7281934 |
missense |
probably damaging |
1.00 |
|
R2844:Mark2
|
UTSW |
19 |
7286862 |
missense |
probably damaging |
1.00 |
|
R2845:Mark2
|
UTSW |
19 |
7286862 |
missense |
probably damaging |
1.00 |
|
R2846:Mark2
|
UTSW |
19 |
7286862 |
missense |
probably damaging |
1.00 |
|
R2902:Mark2
|
UTSW |
19 |
7283448 |
missense |
probably benign |
0.00 |
|
R2935:Mark2
|
UTSW |
19 |
7285889 |
missense |
probably benign |
0.09 |
|
R3853:Mark2
|
UTSW |
19 |
7277290 |
missense |
probably damaging |
1.00 |
|
R4377:Mark2
|
UTSW |
19 |
7290689 |
missense |
possibly damaging |
0.66 |
|
R4737:Mark2
|
UTSW |
19 |
7281232 |
missense |
probably damaging |
0.96 |
|
R5103:Mark2
|
UTSW |
19 |
7284503 |
missense |
probably damaging |
1.00 |
|
R5154:Mark2
|
UTSW |
19 |
7283074 |
missense |
probably damaging |
0.99 |
|
R5579:Mark2
|
UTSW |
19 |
7282816 |
missense |
probably damaging |
1.00 |
|
R6163:Mark2
|
UTSW |
19 |
7290761 |
missense |
probably benign |
0.00 |
|
R6186:Mark2
|
UTSW |
19 |
7283202 |
missense |
probably benign |
0.01 |
|
R6387:Mark2
|
UTSW |
19 |
7285902 |
missense |
probably damaging |
1.00 |
|
R7032:Mark2
|
UTSW |
19 |
7287333 |
missense |
probably damaging |
1.00 |
|
R7949:Mark2
|
UTSW |
19 |
7284716 |
missense |
probably benign |
0.12 |
|
|---|
| Predicted Primers |
PCR Primer
(F):5'- TGCATTTCACTGCACCTTGAG -3'
(R):5'- TCTGTGCTGACTGATGCTGC -3'
Sequencing Primer
(F):5'- CCTTGAGGTTCTGTCCATCAAAAGG -3'
(R):5'- TGACTGATGCTGCCCTGGAAG -3'
|
|---|
| Posted On | 2015-08-18 |
|---|
