Incidental Mutation 'R1995:Pkn3'
| ID |
225655 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkn3
|
| Ensembl Gene |
ENSMUSG00000026785 |
| Gene Name |
protein kinase N3 |
| Synonyms |
|
| MMRRC Submission |
040005-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1995 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
29967696-29981034 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 29979989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Alanine
at position 744
(G744A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045246]
[ENSMUST00000081838]
[ENSMUST00000102865]
|
| AlphaFold |
Q8K045 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045246
AA Change: G744A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785
AA Change: G744A
| Domain | Start | End | E-Value | Type |
|---|
|
Hr1
|
15 |
78 |
3.45e-17 |
SMART |
|
Hr1
|
98 |
166 |
6.19e-19 |
SMART |
|
Hr1
|
171 |
239 |
3.32e-19 |
SMART |
|
low complexity region
|
528 |
537 |
N/A |
INTRINSIC |
|
S_TKc
|
548 |
807 |
2.52e-93 |
SMART |
|
S_TK_X
|
808 |
872 |
9.58e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081838
|
| SMART Domains |
Protein: ENSMUSP00000080521
Gene: ENSMUSG00000015335
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
58 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
106 |
232 |
1.9e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102865
|
| SMART Domains |
Protein: ENSMUSP00000099929
Gene: ENSMUSG00000015335
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
58 |
218 |
1.1e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134591
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137001
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137240
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148650
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148717
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156197
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation are viable, fertile and healthy. Mice with conditional loss of this gene and Pten in hematopoietic cells show a delay in leukemia development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtpbp1 |
T |
G |
13: 59,678,872 (GRCm39) |
K145N |
probably damaging |
Het |
| AY358078 |
T |
A |
14: 52,063,519 (GRCm39) |
D388E |
probably damaging |
Het |
| Btbd9 |
A |
G |
17: 30,493,904 (GRCm39) |
Y496H |
possibly damaging |
Het |
| Catsperb |
T |
A |
12: 101,569,026 (GRCm39) |
N899K |
possibly damaging |
Het |
| Cenpl |
T |
C |
1: 160,905,994 (GRCm39) |
S123P |
probably damaging |
Het |
| Cep120 |
G |
A |
18: 53,873,208 (GRCm39) |
T41I |
probably damaging |
Het |
| Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
| Cnbd1 |
G |
A |
4: 19,055,112 (GRCm39) |
P105S |
possibly damaging |
Het |
| Col6a1 |
T |
C |
10: 76,557,790 (GRCm39) |
N149D |
probably damaging |
Het |
| Ctnna3 |
T |
A |
10: 63,656,143 (GRCm39) |
V241D |
probably damaging |
Het |
| Dcbld2 |
A |
C |
16: 58,276,695 (GRCm39) |
E495D |
probably benign |
Het |
| Dmp1 |
T |
G |
5: 104,357,779 (GRCm39) |
S40A |
possibly damaging |
Het |
| Dpysl4 |
A |
G |
7: 138,676,686 (GRCm39) |
I379V |
probably benign |
Het |
| Eral1 |
C |
T |
11: 77,965,315 (GRCm39) |
G367S |
probably benign |
Het |
| Fah |
C |
T |
7: 84,251,389 (GRCm39) |
R31Q |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,192,293 (GRCm39) |
|
probably null |
Het |
| Fbxo40 |
T |
C |
16: 36,790,231 (GRCm39) |
D293G |
probably damaging |
Het |
| Gemin6 |
A |
C |
17: 80,535,414 (GRCm39) |
T125P |
probably damaging |
Het |
| Gpbar1 |
G |
A |
1: 74,318,603 (GRCm39) |
G282D |
possibly damaging |
Het |
| Gria2 |
G |
A |
3: 80,709,664 (GRCm39) |
L10F |
probably benign |
Het |
| Gucy1b1 |
A |
G |
3: 81,942,160 (GRCm39) |
I533T |
probably damaging |
Het |
| H2-M9 |
A |
T |
17: 36,952,678 (GRCm39) |
Y123N |
probably damaging |
Het |
| Hipk2 |
C |
A |
6: 38,692,909 (GRCm39) |
D868Y |
probably damaging |
Het |
| Itprid1 |
T |
C |
6: 55,945,694 (GRCm39) |
I805T |
probably benign |
Het |
| Jarid2 |
T |
C |
13: 45,027,917 (GRCm39) |
L123P |
probably damaging |
Het |
| Kcnb2 |
C |
A |
1: 15,779,990 (GRCm39) |
N287K |
possibly damaging |
Het |
| Kdm8 |
G |
A |
7: 125,051,511 (GRCm39) |
G35S |
probably benign |
Het |
| Kirrel1 |
G |
T |
3: 87,003,093 (GRCm39) |
A100D |
possibly damaging |
Het |
| Ltbp2 |
T |
G |
12: 84,855,220 (GRCm39) |
|
probably null |
Het |
| Mfsd12 |
C |
A |
10: 81,193,515 (GRCm39) |
H28Q |
probably damaging |
Het |
| Neb |
C |
T |
2: 52,188,744 (GRCm39) |
V837M |
probably damaging |
Het |
| Nkain2 |
A |
G |
10: 32,278,347 (GRCm39) |
I26T |
possibly damaging |
Het |
| Nuggc |
A |
G |
14: 65,848,623 (GRCm39) |
R175G |
probably benign |
Het |
| Or10ag57 |
T |
G |
2: 87,218,175 (GRCm39) |
I42R |
probably damaging |
Het |
| Or5ac23 |
A |
G |
16: 59,149,654 (GRCm39) |
S73P |
probably damaging |
Het |
| Or5d35 |
T |
A |
2: 87,856,016 (GRCm39) |
S317T |
probably benign |
Het |
| Or8g52 |
T |
C |
9: 39,630,709 (GRCm39) |
F62S |
probably damaging |
Het |
| Pcnt |
G |
A |
10: 76,228,633 (GRCm39) |
Q1511* |
probably null |
Het |
| Piezo2 |
G |
T |
18: 63,211,852 (GRCm39) |
T1311K |
probably damaging |
Het |
| Pik3c2a |
T |
C |
7: 115,953,241 (GRCm39) |
Y1218C |
probably damaging |
Het |
| Pik3r4 |
T |
A |
9: 105,546,364 (GRCm39) |
S905T |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,285,867 (GRCm39) |
D1035E |
probably damaging |
Het |
| Pms1 |
A |
G |
1: 53,234,174 (GRCm39) |
S781P |
probably benign |
Het |
| Pogz |
C |
T |
3: 94,785,255 (GRCm39) |
R793W |
probably damaging |
Het |
| Prrc2a |
A |
T |
17: 35,376,405 (GRCm39) |
V795D |
probably damaging |
Het |
| Rock1 |
G |
A |
18: 10,101,026 (GRCm39) |
R630* |
probably null |
Het |
| Scd4 |
T |
A |
19: 44,322,617 (GRCm39) |
I70N |
possibly damaging |
Het |
| Serpine2 |
A |
G |
1: 79,799,159 (GRCm39) |
S32P |
probably damaging |
Het |
| Slc9c1 |
A |
C |
16: 45,374,618 (GRCm39) |
T328P |
probably damaging |
Het |
| Spata31d1b |
G |
C |
13: 59,864,194 (GRCm39) |
L447F |
probably benign |
Het |
| Speer2 |
A |
G |
16: 69,654,965 (GRCm39) |
S167P |
probably benign |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Tbcel |
C |
A |
9: 42,362,957 (GRCm39) |
G29W |
probably damaging |
Het |
| Tmcc3 |
T |
C |
10: 94,414,468 (GRCm39) |
S57P |
possibly damaging |
Het |
| Tmem240 |
T |
A |
4: 155,824,304 (GRCm39) |
D125E |
possibly damaging |
Het |
| Ttll7 |
G |
A |
3: 146,667,510 (GRCm39) |
C792Y |
possibly damaging |
Het |
| Vmn1r177 |
T |
A |
7: 23,565,112 (GRCm39) |
I255F |
probably damaging |
Het |
| Zp2 |
T |
A |
7: 119,734,388 (GRCm39) |
I554F |
probably damaging |
Het |
|
| Other mutations in Pkn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00422:Pkn3
|
APN |
2 |
29,971,116 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL00781:Pkn3
|
APN |
2 |
29,973,402 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00815:Pkn3
|
APN |
2 |
29,971,212 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01576:Pkn3
|
APN |
2 |
29,977,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01897:Pkn3
|
APN |
2 |
29,972,824 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02513:Pkn3
|
APN |
2 |
29,973,149 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02552:Pkn3
|
APN |
2 |
29,970,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02622:Pkn3
|
APN |
2 |
29,973,158 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02689:Pkn3
|
APN |
2 |
29,970,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02996:Pkn3
|
APN |
2 |
29,970,627 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL03106:Pkn3
|
APN |
2 |
29,975,257 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Enflamme
|
UTSW |
2 |
29,973,049 (GRCm39) |
unclassified |
probably benign |
|
|
Wrath
|
UTSW |
2 |
29,978,596 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4151001:Pkn3
|
UTSW |
2 |
29,980,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0279:Pkn3
|
UTSW |
2 |
29,973,309 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0370:Pkn3
|
UTSW |
2 |
29,977,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0491:Pkn3
|
UTSW |
2 |
29,979,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0600:Pkn3
|
UTSW |
2 |
29,971,146 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1418:Pkn3
|
UTSW |
2 |
29,973,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1510:Pkn3
|
UTSW |
2 |
29,969,776 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1535:Pkn3
|
UTSW |
2 |
29,977,065 (GRCm39) |
missense |
probably benign |
|
|
R1540:Pkn3
|
UTSW |
2 |
29,974,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1808:Pkn3
|
UTSW |
2 |
29,969,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1884:Pkn3
|
UTSW |
2 |
29,972,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3745:Pkn3
|
UTSW |
2 |
29,980,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4119:Pkn3
|
UTSW |
2 |
29,973,049 (GRCm39) |
unclassified |
probably benign |
|
|
R4258:Pkn3
|
UTSW |
2 |
29,978,572 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4665:Pkn3
|
UTSW |
2 |
29,975,469 (GRCm39) |
unclassified |
probably benign |
|
|
R4772:Pkn3
|
UTSW |
2 |
29,974,692 (GRCm39) |
splice site |
probably null |
|
|
R4808:Pkn3
|
UTSW |
2 |
29,980,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5038:Pkn3
|
UTSW |
2 |
29,975,293 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5388:Pkn3
|
UTSW |
2 |
29,971,086 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5488:Pkn3
|
UTSW |
2 |
29,978,596 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5611:Pkn3
|
UTSW |
2 |
29,969,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6001:Pkn3
|
UTSW |
2 |
29,978,596 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6277:Pkn3
|
UTSW |
2 |
29,972,957 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6562:Pkn3
|
UTSW |
2 |
29,970,699 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6724:Pkn3
|
UTSW |
2 |
29,980,562 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7061:Pkn3
|
UTSW |
2 |
29,973,548 (GRCm39) |
splice site |
probably null |
|
|
R7128:Pkn3
|
UTSW |
2 |
29,973,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7249:Pkn3
|
UTSW |
2 |
29,974,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7475:Pkn3
|
UTSW |
2 |
29,977,122 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7746:Pkn3
|
UTSW |
2 |
29,980,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7747:Pkn3
|
UTSW |
2 |
29,980,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7783:Pkn3
|
UTSW |
2 |
29,969,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8401:Pkn3
|
UTSW |
2 |
29,970,071 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8425:Pkn3
|
UTSW |
2 |
29,976,513 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8535:Pkn3
|
UTSW |
2 |
29,969,936 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8720:Pkn3
|
UTSW |
2 |
29,975,196 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8743:Pkn3
|
UTSW |
2 |
29,973,318 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9415:Pkn3
|
UTSW |
2 |
29,968,332 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9437:Pkn3
|
UTSW |
2 |
29,973,267 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9583:Pkn3
|
UTSW |
2 |
29,976,723 (GRCm39) |
missense |
probably null |
0.99 |
|
R9800:Pkn3
|
UTSW |
2 |
29,973,290 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTATAACCAGAACTACGGTGTGTG -3'
(R):5'- TTCTGAATGAGTTCGAGCCC -3'
Sequencing Primer
(F):5'- AGAACTACGGTGTGTGTGCCAC -3'
(R):5'- AATGAGTTCGAGCCCTTGCAC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation