Incidental Mutation 'R3950:Pcx'
| ID |
307910 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcx
|
| Ensembl Gene |
ENSMUSG00000024892 |
| Gene Name |
pyruvate carboxylase |
| Synonyms |
Pc |
| MMRRC Submission |
040930-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3950 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
4560500-4671780 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 4667995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 506
(H506Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025823]
[ENSMUST00000053597]
[ENSMUST00000068004]
[ENSMUST00000113822]
[ENSMUST00000113825]
[ENSMUST00000224707]
[ENSMUST00000224726]
[ENSMUST00000225476]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025823
|
| SMART Domains |
Protein: ENSMUSP00000025823
Gene: ENSMUSG00000024889
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
34 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
88 |
N/A |
INTRINSIC |
|
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
|
Pfam:Abi
|
147 |
267 |
1.4e-19 |
PFAM |
|
transmembrane domain
|
283 |
302 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053597
|
| SMART Domains |
Protein: ENSMUSP00000050039
Gene: ENSMUSG00000045045
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
16 |
52 |
1.16e0 |
SMART |
|
LRR
|
71 |
94 |
3.86e0 |
SMART |
|
LRR_TYP
|
95 |
118 |
9.44e-2 |
SMART |
|
LRR
|
120 |
142 |
1.23e0 |
SMART |
|
LRR
|
144 |
166 |
1.09e1 |
SMART |
|
LRR_TYP
|
168 |
191 |
7.37e-4 |
SMART |
|
LRR
|
192 |
215 |
1.45e1 |
SMART |
|
LRRCT
|
234 |
279 |
1.27e-3 |
SMART |
|
IGc2
|
293 |
358 |
3.35e-14 |
SMART |
|
FN3
|
403 |
484 |
1.77e-2 |
SMART |
|
transmembrane domain
|
517 |
539 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
585 |
N/A |
INTRINSIC |
|
low complexity region
|
614 |
626 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068004
AA Change: H507Y
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000063825
Gene: ENSMUSG00000024892
AA Change: H507Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
22 |
N/A |
INTRINSIC |
|
Pfam:CPSase_L_chain
|
37 |
147 |
3.3e-45 |
PFAM |
|
Pfam:ATP-grasp_4
|
149 |
334 |
3.9e-19 |
PFAM |
|
Pfam:CPSase_L_D2
|
152 |
361 |
7.2e-77 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
161 |
329 |
1.5e-11 |
PFAM |
|
Biotin_carb_C
|
376 |
483 |
1.21e-50 |
SMART |
|
low complexity region
|
513 |
541 |
N/A |
INTRINSIC |
|
Pfam:HMGL-like
|
564 |
838 |
8.2e-29 |
PFAM |
|
Pfam:PYC_OADA
|
862 |
1062 |
1.4e-72 |
PFAM |
|
Pfam:Biotin_lipoyl
|
1111 |
1178 |
1.4e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113822
|
| SMART Domains |
Protein: ENSMUSP00000109453
Gene: ENSMUSG00000045045
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
16 |
52 |
1.16e0 |
SMART |
|
LRR
|
71 |
94 |
3.86e0 |
SMART |
|
LRR_TYP
|
95 |
118 |
9.44e-2 |
SMART |
|
LRR
|
120 |
142 |
1.23e0 |
SMART |
|
LRR
|
144 |
166 |
1.09e1 |
SMART |
|
LRR_TYP
|
168 |
191 |
7.37e-4 |
SMART |
|
LRR
|
192 |
215 |
1.45e1 |
SMART |
|
LRRCT
|
234 |
279 |
1.27e-3 |
SMART |
|
IGc2
|
293 |
358 |
3.35e-14 |
SMART |
|
FN3
|
403 |
484 |
1.77e-2 |
SMART |
|
transmembrane domain
|
517 |
539 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
585 |
N/A |
INTRINSIC |
|
low complexity region
|
614 |
626 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113825
AA Change: H506Y
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000109456
Gene: ENSMUSG00000024892
AA Change: H506Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
21 |
N/A |
INTRINSIC |
|
Pfam:CPSase_L_chain
|
36 |
146 |
1.1e-43 |
PFAM |
|
Pfam:ATP-grasp_4
|
148 |
332 |
2.9e-19 |
PFAM |
|
Pfam:CPSase_L_D2
|
151 |
360 |
4.2e-77 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
158 |
328 |
7.9e-13 |
PFAM |
|
Biotin_carb_C
|
375 |
482 |
1.21e-50 |
SMART |
|
low complexity region
|
512 |
540 |
N/A |
INTRINSIC |
|
Pfam:HMGL-like
|
571 |
821 |
3.4e-28 |
PFAM |
|
Pfam:PYC_OADA
|
861 |
1062 |
3.4e-69 |
PFAM |
|
Pfam:Biotin_lipoyl
|
1110 |
1177 |
1.8e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224707
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224726
AA Change: H506Y
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225476
|
| Meta Mutation Damage Score |
0.0942 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes pyruvate carboxylase, which requires biotin and ATP to catalyse the carboxylation of pyruvate to oxaloacetate. The active enzyme is a homotetramer arranged in a tetrahedron which is located exclusively in the mitochondrial matrix. Pyruvate carboxylase is involved in gluconeogenesis, lipogenesis, insulin secretion and synthesis of the neurotransmitter glutamate. Mutations in this gene have been associated with pyruvate carboxylase deficiency. Alternatively spliced transcript variants with different 5' UTRs, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
C |
2: 68,494,747 (GRCm39) |
|
probably null |
Het |
| Ahnak2 |
A |
T |
12: 112,749,409 (GRCm39) |
I186N |
probably damaging |
Het |
| Appbp2 |
A |
G |
11: 85,085,532 (GRCm39) |
I458T |
probably damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,021,013 (GRCm39) |
Y291C |
probably damaging |
Het |
| Ate1 |
T |
C |
7: 130,069,022 (GRCm39) |
Y415C |
probably damaging |
Het |
| B4galt4 |
G |
T |
16: 38,588,384 (GRCm39) |
A72S |
probably benign |
Het |
| C3 |
T |
C |
17: 57,532,286 (GRCm39) |
R178G |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,493,105 (GRCm39) |
Y3C |
probably benign |
Het |
| Col11a1 |
T |
C |
3: 113,915,094 (GRCm39) |
|
probably null |
Het |
| Col22a1 |
A |
G |
15: 71,849,207 (GRCm39) |
F294L |
possibly damaging |
Het |
| Dera |
A |
G |
6: 137,814,118 (GRCm39) |
Y100C |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,112,061 (GRCm39) |
Y276* |
probably null |
Het |
| Eea1 |
A |
T |
10: 95,877,996 (GRCm39) |
N1389I |
probably damaging |
Het |
| Epha4 |
A |
T |
1: 77,376,353 (GRCm39) |
Y509N |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fezf1 |
T |
A |
6: 23,247,419 (GRCm39) |
K219* |
probably null |
Het |
| Fsd1 |
G |
A |
17: 56,302,517 (GRCm39) |
|
probably null |
Het |
| Haspin |
A |
G |
11: 73,027,221 (GRCm39) |
Y623H |
probably damaging |
Het |
| Hsd3b1 |
C |
T |
3: 98,763,454 (GRCm39) |
V56M |
possibly damaging |
Het |
| Hyou1 |
C |
T |
9: 44,296,524 (GRCm39) |
T483I |
probably damaging |
Het |
| Kdm2a |
A |
G |
19: 4,393,260 (GRCm39) |
L365S |
possibly damaging |
Het |
| Kdm6b |
G |
T |
11: 69,296,441 (GRCm39) |
P609T |
probably damaging |
Het |
| Klhl18 |
T |
A |
9: 110,257,970 (GRCm39) |
Y490F |
probably damaging |
Het |
| Ky |
C |
T |
9: 102,419,627 (GRCm39) |
Q545* |
probably null |
Het |
| L1td1 |
T |
C |
4: 98,625,590 (GRCm39) |
L595P |
probably benign |
Het |
| Map3k20 |
T |
G |
2: 72,268,644 (GRCm39) |
I550M |
probably damaging |
Het |
| Mug1 |
T |
A |
6: 121,855,489 (GRCm39) |
V941E |
probably damaging |
Het |
| Ndst1 |
T |
C |
18: 60,830,211 (GRCm39) |
N633S |
probably benign |
Het |
| Ninl |
A |
T |
2: 150,794,408 (GRCm39) |
I740K |
possibly damaging |
Het |
| Npepl1 |
A |
G |
2: 173,962,906 (GRCm39) |
N431D |
probably damaging |
Het |
| Or5w10 |
T |
C |
2: 87,375,409 (GRCm39) |
T160A |
probably damaging |
Het |
| Pacs2 |
T |
C |
12: 113,024,733 (GRCm39) |
S408P |
probably damaging |
Het |
| Pard6b |
C |
T |
2: 167,941,114 (GRCm39) |
T367I |
probably damaging |
Het |
| Pcdhga7 |
A |
G |
18: 37,849,568 (GRCm39) |
E525G |
probably damaging |
Het |
| Pctp |
A |
G |
11: 89,878,144 (GRCm39) |
I130T |
probably benign |
Het |
| Pdhx |
A |
G |
2: 102,865,586 (GRCm39) |
S199P |
probably damaging |
Het |
| Pdia2 |
C |
A |
17: 26,416,590 (GRCm39) |
|
probably null |
Het |
| Pif1 |
C |
A |
9: 65,499,116 (GRCm39) |
N445K |
probably damaging |
Het |
| Prickle4 |
T |
C |
17: 47,999,507 (GRCm39) |
K349E |
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptpdc1 |
A |
T |
13: 48,742,670 (GRCm39) |
M173K |
probably damaging |
Het |
| Rb1 |
A |
G |
14: 73,500,102 (GRCm39) |
L515P |
probably damaging |
Het |
| Rcvrn |
A |
G |
11: 67,590,877 (GRCm39) |
K154E |
probably damaging |
Het |
| Ros1 |
C |
T |
10: 51,942,484 (GRCm39) |
V2059I |
probably damaging |
Het |
| Rtn4ip1 |
T |
A |
10: 43,785,893 (GRCm39) |
|
probably null |
Het |
| Sema5a |
T |
C |
15: 32,689,484 (GRCm39) |
Y1050H |
probably damaging |
Het |
| Slc25a28 |
C |
T |
19: 43,652,708 (GRCm39) |
V318I |
probably benign |
Het |
| Srek1 |
G |
A |
13: 103,881,403 (GRCm39) |
R408W |
unknown |
Het |
| Synrg |
C |
T |
11: 83,880,641 (GRCm39) |
T444I |
probably damaging |
Het |
| Ticrr |
T |
C |
7: 79,331,817 (GRCm39) |
L776S |
probably damaging |
Het |
| Tmem127 |
T |
C |
2: 127,090,577 (GRCm39) |
L31P |
probably damaging |
Het |
| Tmprss15 |
T |
A |
16: 78,870,074 (GRCm39) |
T190S |
probably benign |
Het |
| Trip10 |
T |
A |
17: 57,560,411 (GRCm39) |
|
probably null |
Het |
| Ttc6 |
A |
G |
12: 57,696,292 (GRCm39) |
Y31C |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,661,729 (GRCm39) |
H1718L |
possibly damaging |
Het |
| Zbtb38 |
A |
G |
9: 96,569,599 (GRCm39) |
F495S |
probably damaging |
Het |
| Zfp280d |
G |
T |
9: 72,203,301 (GRCm39) |
Q16H |
possibly damaging |
Het |
| Zfp521 |
A |
G |
18: 13,979,403 (GRCm39) |
S337P |
probably damaging |
Het |
| Zswim9 |
T |
A |
7: 12,995,503 (GRCm39) |
T218S |
possibly damaging |
Het |
|
| Other mutations in Pcx |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00924:Pcx
|
APN |
19 |
4,670,965 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01339:Pcx
|
APN |
19 |
4,670,263 (GRCm39) |
splice site |
probably null |
|
|
IGL01373:Pcx
|
APN |
19 |
4,670,263 (GRCm39) |
splice site |
probably null |
|
|
IGL01704:Pcx
|
APN |
19 |
4,671,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02223:Pcx
|
APN |
19 |
4,652,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4151001:Pcx
|
UTSW |
19 |
4,653,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0098:Pcx
|
UTSW |
19 |
4,651,775 (GRCm39) |
splice site |
probably benign |
|
|
R0098:Pcx
|
UTSW |
19 |
4,651,775 (GRCm39) |
splice site |
probably benign |
|
|
R0211:Pcx
|
UTSW |
19 |
4,670,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:Pcx
|
UTSW |
19 |
4,670,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0398:Pcx
|
UTSW |
19 |
4,651,638 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0414:Pcx
|
UTSW |
19 |
4,657,670 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1402:Pcx
|
UTSW |
19 |
4,652,058 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1402:Pcx
|
UTSW |
19 |
4,652,058 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1479:Pcx
|
UTSW |
19 |
4,652,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1543:Pcx
|
UTSW |
19 |
4,652,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1559:Pcx
|
UTSW |
19 |
4,669,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1607:Pcx
|
UTSW |
19 |
4,653,187 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1833:Pcx
|
UTSW |
19 |
4,669,132 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1866:Pcx
|
UTSW |
19 |
4,671,249 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2131:Pcx
|
UTSW |
19 |
4,652,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2172:Pcx
|
UTSW |
19 |
4,670,909 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2224:Pcx
|
UTSW |
19 |
4,668,026 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2226:Pcx
|
UTSW |
19 |
4,668,026 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2280:Pcx
|
UTSW |
19 |
4,654,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3952:Pcx
|
UTSW |
19 |
4,667,995 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4205:Pcx
|
UTSW |
19 |
4,669,194 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4409:Pcx
|
UTSW |
19 |
4,660,031 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4670:Pcx
|
UTSW |
19 |
4,669,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4691:Pcx
|
UTSW |
19 |
4,669,505 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4728:Pcx
|
UTSW |
19 |
4,653,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4808:Pcx
|
UTSW |
19 |
4,670,956 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5200:Pcx
|
UTSW |
19 |
4,668,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5454:Pcx
|
UTSW |
19 |
4,652,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5621:Pcx
|
UTSW |
19 |
4,669,195 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5990:Pcx
|
UTSW |
19 |
4,671,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6519:Pcx
|
UTSW |
19 |
4,652,239 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6526:Pcx
|
UTSW |
19 |
4,654,523 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7202:Pcx
|
UTSW |
19 |
4,652,361 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7423:Pcx
|
UTSW |
19 |
4,671,206 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7473:Pcx
|
UTSW |
19 |
4,669,589 (GRCm39) |
nonsense |
probably null |
|
|
R7654:Pcx
|
UTSW |
19 |
4,565,697 (GRCm39) |
splice site |
probably null |
|
|
R7963:Pcx
|
UTSW |
19 |
4,652,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8272:Pcx
|
UTSW |
19 |
4,651,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8693:Pcx
|
UTSW |
19 |
4,652,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8781:Pcx
|
UTSW |
19 |
4,670,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8829:Pcx
|
UTSW |
19 |
4,651,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9084:Pcx
|
UTSW |
19 |
4,669,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9334:Pcx
|
UTSW |
19 |
4,670,532 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9462:Pcx
|
UTSW |
19 |
4,651,970 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9540:Pcx
|
UTSW |
19 |
4,651,682 (GRCm39) |
missense |
probably benign |
|
|
R9650:Pcx
|
UTSW |
19 |
4,657,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Pcx
|
UTSW |
19 |
4,669,101 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTACATTACCTCGGTCTGC -3'
(R):5'- AGGATGTCCCTGAAACCAGC -3'
Sequencing Primer
(F):5'- GTACCCCTGCCCTTGTTAAG -3'
(R):5'- ATGTCCCTGAAACCAGCTGGAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation