Incidental Mutation 'R7204:Prag1'
| ID |
560448 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prag1
|
| Ensembl Gene |
ENSMUSG00000050271 |
| Gene Name |
PEAK1 related kinase activating pseudokinase 1 |
| Synonyms |
D8Ertd82e, NACK |
| MMRRC Submission |
045282-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7204 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
36561982-36614941 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36613915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 1156
(C1156R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110492]
|
| AlphaFold |
Q571I4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110492
AA Change: C1156R
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000106118
Gene: ENSMUSG00000050271
AA Change: C1156R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
317 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
395 |
412 |
N/A |
INTRINSIC |
|
low complexity region
|
525 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
793 |
N/A |
INTRINSIC |
|
low complexity region
|
892 |
925 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
1060 |
1288 |
1.7e-7 |
PFAM |
|
Pfam:Pkinase
|
1061 |
1293 |
1.5e-13 |
PFAM |
|
low complexity region
|
1363 |
1373 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0710 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
99% (75/76) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that belongs to the tyrosine protein kinase family. A similar protein in rat binds to Rho family GTPase 2 (Rnd2) and regulates neurite outgrowth via activation of Ras homolog gene family, member A (RhoA). [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygous disruption of this gene leads to complete embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067K01Rik |
T |
C |
8: 84,730,636 (GRCm39) |
S227P |
probably damaging |
Het |
| Acot6 |
A |
G |
12: 84,153,301 (GRCm39) |
H181R |
probably benign |
Het |
| Adam15 |
A |
T |
3: 89,254,244 (GRCm39) |
H184Q |
probably benign |
Het |
| Agl |
A |
G |
3: 116,587,469 (GRCm39) |
F29L |
probably benign |
Het |
| Ak7 |
A |
G |
12: 105,708,502 (GRCm39) |
Y319C |
probably benign |
Het |
| Ano8 |
C |
A |
8: 71,931,669 (GRCm39) |
V813L |
probably benign |
Het |
| Apbb2 |
T |
G |
5: 66,608,946 (GRCm39) |
K234Q |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,522,210 (GRCm39) |
D605E |
probably damaging |
Het |
| Bfsp2 |
C |
A |
9: 103,309,865 (GRCm39) |
R340L |
probably damaging |
Het |
| Birc6 |
C |
A |
17: 74,947,103 (GRCm39) |
P2956T |
probably damaging |
Het |
| C1rb |
T |
C |
6: 124,554,386 (GRCm39) |
I389T |
probably benign |
Het |
| Ccdc146 |
A |
G |
5: 21,513,624 (GRCm39) |
F498S |
probably benign |
Het |
| Cdc14b |
A |
C |
13: 64,358,012 (GRCm39) |
V361G |
possibly damaging |
Het |
| Cdc25b |
A |
T |
2: 131,033,552 (GRCm39) |
I164F |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 76,921,110 (GRCm39) |
S297P |
unknown |
Het |
| Col3a1 |
A |
T |
1: 45,361,578 (GRCm39) |
I117F |
unknown |
Het |
| Cox4i2 |
AG |
A |
2: 152,602,618 (GRCm39) |
|
probably null |
Het |
| Crybg3 |
C |
A |
16: 59,379,253 (GRCm39) |
G667V |
probably benign |
Het |
| Ctc1 |
A |
G |
11: 68,920,567 (GRCm39) |
D623G |
probably damaging |
Het |
| Dennd1a |
A |
T |
2: 37,929,215 (GRCm39) |
H152Q |
probably damaging |
Het |
| Dgke |
G |
A |
11: 88,932,306 (GRCm39) |
P495S |
probably damaging |
Het |
| Dll3 |
A |
T |
7: 27,998,330 (GRCm39) |
C212S |
possibly damaging |
Het |
| Dll4 |
A |
T |
2: 119,159,054 (GRCm39) |
S235C |
probably damaging |
Het |
| Dnah12 |
G |
A |
14: 26,500,869 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
T |
14: 26,503,442 (GRCm39) |
T1599S |
probably damaging |
Het |
| Elavl1 |
G |
A |
8: 4,361,712 (GRCm39) |
T20M |
probably damaging |
Het |
| Epha3 |
T |
C |
16: 63,472,695 (GRCm39) |
T397A |
probably benign |
Het |
| Fanca |
A |
T |
8: 124,013,216 (GRCm39) |
I859N |
probably damaging |
Het |
| Fzd1 |
A |
T |
5: 4,805,980 (GRCm39) |
V534D |
probably damaging |
Het |
| Glmp |
A |
G |
3: 88,233,917 (GRCm39) |
Y258C |
probably damaging |
Het |
| Gm9195 |
G |
A |
14: 72,711,626 (GRCm39) |
P329S |
probably damaging |
Het |
| Gpt |
A |
G |
15: 76,583,199 (GRCm39) |
R379G |
probably benign |
Het |
| Gsdmc2 |
T |
C |
15: 63,696,903 (GRCm39) |
T423A |
probably damaging |
Het |
| Hemgn |
T |
C |
4: 46,397,054 (GRCm39) |
K61E |
possibly damaging |
Het |
| Ikzf4 |
A |
T |
10: 128,479,759 (GRCm39) |
S56T |
possibly damaging |
Het |
| Jak1 |
T |
C |
4: 101,032,332 (GRCm39) |
T425A |
probably benign |
Het |
| Jsrp1 |
T |
C |
10: 80,646,319 (GRCm39) |
T80A |
probably benign |
Het |
| Klra9 |
T |
A |
6: 130,165,643 (GRCm39) |
D124V |
possibly damaging |
Het |
| Lama5 |
A |
T |
2: 179,843,970 (GRCm39) |
V397D |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,302,877 (GRCm39) |
S2951P |
probably benign |
Het |
| Map7d1 |
A |
G |
4: 126,149,808 (GRCm39) |
|
probably null |
Het |
| Mcm6 |
A |
T |
1: 128,265,864 (GRCm39) |
C636S |
probably damaging |
Het |
| Mia |
T |
C |
7: 26,880,358 (GRCm39) |
E39G |
possibly damaging |
Het |
| Mpeg1 |
T |
A |
19: 12,440,258 (GRCm39) |
I572N |
probably damaging |
Het |
| Muc21 |
AGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCAGTGCTGGATACAGTGGTGGTC |
AGCTGGATACAGTGGTGGTC |
17: 35,932,105 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
AGGCGCAGAAACCCTGGC |
AGGC |
7: 141,214,363 (GRCm39) |
|
probably null |
Het |
| Mup5 |
A |
G |
4: 61,751,992 (GRCm39) |
Y86H |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,954,104 (GRCm39) |
V816D |
probably benign |
Het |
| Nfib |
T |
C |
4: 82,215,052 (GRCm39) |
|
probably null |
Het |
| Nlrc5 |
T |
A |
8: 95,218,153 (GRCm39) |
V1056D |
possibly damaging |
Het |
| Nynrin |
G |
C |
14: 56,110,190 (GRCm39) |
E1766Q |
probably damaging |
Het |
| Or7d9 |
A |
T |
9: 20,197,100 (GRCm39) |
Y43F |
probably benign |
Het |
| Oxct1 |
T |
A |
15: 4,123,524 (GRCm39) |
L328Q |
probably damaging |
Het |
| Pax5 |
T |
A |
4: 44,679,485 (GRCm39) |
I187F |
possibly damaging |
Het |
| Pcdhb4 |
A |
T |
18: 37,442,292 (GRCm39) |
D534V |
probably damaging |
Het |
| Pebp4 |
C |
T |
14: 70,085,046 (GRCm39) |
P35S |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,386,949 (GRCm39) |
V1274E |
possibly damaging |
Het |
| Plcz1 |
A |
T |
6: 139,956,150 (GRCm39) |
V373D |
probably benign |
Het |
| Plxnb1 |
C |
T |
9: 108,929,243 (GRCm39) |
T33I |
probably damaging |
Het |
| Ptprc |
T |
A |
1: 138,045,600 (GRCm39) |
I87F |
probably benign |
Het |
| Rbp4 |
G |
A |
19: 38,112,551 (GRCm39) |
T138I |
possibly damaging |
Het |
| Semp2l2b |
A |
G |
10: 21,943,785 (GRCm39) |
L65P |
probably damaging |
Het |
| Slc12a1 |
A |
T |
2: 125,042,542 (GRCm39) |
N733Y |
possibly damaging |
Het |
| Slc27a3 |
A |
G |
3: 90,297,033 (GRCm39) |
V22A |
probably benign |
Het |
| Tcaf1 |
T |
C |
6: 42,651,973 (GRCm39) |
|
probably null |
Het |
| Tnc |
T |
C |
4: 63,889,392 (GRCm39) |
|
probably null |
Het |
| Tspan31 |
A |
T |
10: 126,903,987 (GRCm39) |
*211R |
probably null |
Het |
| Ttc17 |
A |
T |
2: 94,192,773 (GRCm39) |
V86D |
possibly damaging |
Het |
| Ubr1 |
T |
A |
2: 120,734,558 (GRCm39) |
N1114I |
possibly damaging |
Het |
| Ulk2 |
C |
T |
11: 61,674,457 (GRCm39) |
G850R |
probably benign |
Het |
| Vmn1r13 |
T |
A |
6: 57,187,141 (GRCm39) |
I100N |
probably benign |
Het |
| Zan |
T |
C |
5: 137,426,240 (GRCm39) |
D2512G |
unknown |
Het |
| Zc3h14 |
A |
T |
12: 98,737,615 (GRCm39) |
N34I |
probably damaging |
Het |
| Zcwpw1 |
T |
G |
5: 137,810,346 (GRCm39) |
L374R |
probably damaging |
Het |
| Zfp747l1 |
A |
T |
7: 126,983,518 (GRCm39) |
I528K |
possibly damaging |
Het |
|
| Other mutations in Prag1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01107:Prag1
|
APN |
8 |
36,567,085 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01132:Prag1
|
APN |
8 |
36,613,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01322:Prag1
|
APN |
8 |
36,571,088 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01343:Prag1
|
APN |
8 |
36,570,200 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01726:Prag1
|
APN |
8 |
36,570,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01739:Prag1
|
APN |
8 |
36,569,834 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02420:Prag1
|
APN |
8 |
36,614,580 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02433:Prag1
|
APN |
8 |
36,606,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02627:Prag1
|
APN |
8 |
36,606,593 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02797:Prag1
|
APN |
8 |
36,606,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03070:Prag1
|
APN |
8 |
36,570,703 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03323:Prag1
|
APN |
8 |
36,607,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4340:Prag1
|
UTSW |
8 |
36,571,040 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Prag1
|
UTSW |
8 |
36,571,039 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Prag1
|
UTSW |
8 |
36,571,037 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Prag1
|
UTSW |
8 |
36,571,037 (GRCm39) |
small insertion |
probably benign |
|
|
R0325:Prag1
|
UTSW |
8 |
36,570,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0486:Prag1
|
UTSW |
8 |
36,613,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0506:Prag1
|
UTSW |
8 |
36,570,854 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0507:Prag1
|
UTSW |
8 |
36,571,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0595:Prag1
|
UTSW |
8 |
36,614,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0618:Prag1
|
UTSW |
8 |
36,566,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0618:Prag1
|
UTSW |
8 |
36,566,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0885:Prag1
|
UTSW |
8 |
36,570,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1015:Prag1
|
UTSW |
8 |
36,613,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1168:Prag1
|
UTSW |
8 |
36,613,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1182:Prag1
|
UTSW |
8 |
36,614,413 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1227:Prag1
|
UTSW |
8 |
36,607,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1282:Prag1
|
UTSW |
8 |
36,567,068 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1469:Prag1
|
UTSW |
8 |
36,613,452 (GRCm39) |
splice site |
probably benign |
|
|
R1656:Prag1
|
UTSW |
8 |
36,571,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1660:Prag1
|
UTSW |
8 |
36,607,177 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1676:Prag1
|
UTSW |
8 |
36,570,052 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1820:Prag1
|
UTSW |
8 |
36,570,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1970:Prag1
|
UTSW |
8 |
36,596,314 (GRCm39) |
splice site |
probably null |
|
|
R1974:Prag1
|
UTSW |
8 |
36,570,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4398:Prag1
|
UTSW |
8 |
36,570,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4429:Prag1
|
UTSW |
8 |
36,613,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4627:Prag1
|
UTSW |
8 |
36,570,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4980:Prag1
|
UTSW |
8 |
36,606,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5131:Prag1
|
UTSW |
8 |
36,607,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5215:Prag1
|
UTSW |
8 |
36,567,043 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5346:Prag1
|
UTSW |
8 |
36,570,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5414:Prag1
|
UTSW |
8 |
36,606,776 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5535:Prag1
|
UTSW |
8 |
36,571,168 (GRCm39) |
missense |
probably benign |
|
|
R5687:Prag1
|
UTSW |
8 |
36,613,967 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5785:Prag1
|
UTSW |
8 |
36,570,641 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5817:Prag1
|
UTSW |
8 |
36,570,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6002:Prag1
|
UTSW |
8 |
36,571,337 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6127:Prag1
|
UTSW |
8 |
36,614,555 (GRCm39) |
missense |
unknown |
|
|
R6240:Prag1
|
UTSW |
8 |
36,570,506 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6277:Prag1
|
UTSW |
8 |
36,613,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6326:Prag1
|
UTSW |
8 |
36,569,860 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6741:Prag1
|
UTSW |
8 |
36,614,434 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6925:Prag1
|
UTSW |
8 |
36,571,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7085:Prag1
|
UTSW |
8 |
36,571,391 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7095:Prag1
|
UTSW |
8 |
36,569,714 (GRCm39) |
missense |
probably benign |
|
|
R7213:Prag1
|
UTSW |
8 |
36,613,769 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7567:Prag1
|
UTSW |
8 |
36,569,760 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7577:Prag1
|
UTSW |
8 |
36,614,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7783:Prag1
|
UTSW |
8 |
36,570,409 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8146:Prag1
|
UTSW |
8 |
36,571,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8152:Prag1
|
UTSW |
8 |
36,567,079 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8157:Prag1
|
UTSW |
8 |
36,614,393 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8332:Prag1
|
UTSW |
8 |
36,613,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8821:Prag1
|
UTSW |
8 |
36,613,891 (GRCm39) |
missense |
probably benign |
|
|
R8831:Prag1
|
UTSW |
8 |
36,613,891 (GRCm39) |
missense |
probably benign |
|
|
R8927:Prag1
|
UTSW |
8 |
36,614,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8928:Prag1
|
UTSW |
8 |
36,614,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8973:Prag1
|
UTSW |
8 |
36,566,744 (GRCm39) |
start gained |
probably benign |
|
|
R9516:Prag1
|
UTSW |
8 |
36,607,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9596:Prag1
|
UTSW |
8 |
36,570,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9598:Prag1
|
UTSW |
8 |
36,571,069 (GRCm39) |
missense |
probably benign |
0.20 |
|
Z1177:Prag1
|
UTSW |
8 |
36,614,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTTGTGCGGGACTCTATG -3'
(R):5'- CAAACTTGCGGTACTGGGAG -3'
Sequencing Primer
(F):5'- AGCCTGAGGTTTACGAGCG -3'
(R):5'- TGGGAGGCAGACACGATCTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation