Incidental Mutation 'R7010:Pank2'
| ID |
544951 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pank2
|
| Ensembl Gene |
ENSMUSG00000037514 |
| Gene Name |
pantothenate kinase 2 |
| Synonyms |
4933409I19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
R7010 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
131104415-131141108 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 131122293 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 273
(Y273H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119606
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000150843]
[ENSMUST00000184105]
[ENSMUST00000184932]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145904
|
| SMART Domains |
Protein: ENSMUSP00000115034
Gene: ENSMUSG00000037514
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fumble
|
11 |
128 |
5.1e-21 |
PFAM |
|
Pfam:Fumble
|
121 |
178 |
2.7e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150843
AA Change: Y273H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119606
Gene: ENSMUSG00000037514
AA Change: Y273H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
28 |
54 |
N/A |
INTRINSIC |
|
Pfam:Fumble
|
86 |
438 |
8.8e-119 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183349
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183388
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184105
|
| SMART Domains |
Protein: ENSMUSP00000138992
Gene: ENSMUSG00000037514
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
28 |
54 |
N/A |
INTRINSIC |
|
Pfam:Fumble
|
85 |
154 |
7.2e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184932
|
| SMART Domains |
Protein: ENSMUSP00000139259
Gene: ENSMUSG00000037514
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
28 |
54 |
N/A |
INTRINSIC |
|
Pfam:Fumble
|
85 |
151 |
1e-12 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display male infertility, arrested spermatogenesis, azoospermia, reduced female fertility, and retinal degeneration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AL592187.3 |
A |
T |
15: 77,486,797 (GRCm39) |
Y58F |
probably benign |
Het |
| Ano10 |
T |
C |
9: 122,082,190 (GRCm39) |
T494A |
probably damaging |
Het |
| Asah2 |
A |
T |
19: 32,031,954 (GRCm39) |
F72I |
probably benign |
Het |
| Atat1 |
T |
C |
17: 36,219,522 (GRCm39) |
D114G |
probably damaging |
Het |
| Atp6v1e2 |
C |
T |
17: 87,251,773 (GRCm39) |
M208I |
probably benign |
Het |
| Bicd1 |
A |
G |
6: 149,396,113 (GRCm39) |
Y161C |
probably damaging |
Het |
| Camk2g |
T |
C |
14: 20,791,512 (GRCm39) |
S410G |
probably benign |
Het |
| Car2 |
C |
T |
3: 14,965,113 (GRCm39) |
P249L |
possibly damaging |
Het |
| Cdh23 |
T |
G |
10: 60,366,770 (GRCm39) |
I237L |
probably benign |
Het |
| Dlat |
T |
A |
9: 50,569,274 (GRCm39) |
K176N |
probably damaging |
Het |
| Dnajc12 |
T |
A |
10: 63,233,059 (GRCm39) |
C67S |
probably benign |
Het |
| Fat1 |
G |
T |
8: 45,406,386 (GRCm39) |
E1046* |
probably null |
Het |
| Gmip |
G |
A |
8: 70,264,050 (GRCm39) |
A137T |
probably damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Grk6 |
A |
G |
13: 55,598,113 (GRCm39) |
I62V |
possibly damaging |
Het |
| Hook1 |
G |
T |
4: 95,903,048 (GRCm39) |
L512F |
probably damaging |
Het |
| Ighe |
T |
C |
12: 113,236,761 (GRCm39) |
T36A |
|
Het |
| Il17rc |
A |
G |
6: 113,456,249 (GRCm39) |
N338S |
possibly damaging |
Het |
| Itgb6 |
T |
C |
2: 60,480,322 (GRCm39) |
Y338C |
probably damaging |
Het |
| Kcnd2 |
A |
G |
6: 21,216,707 (GRCm39) |
Y137C |
probably damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,158,759 (GRCm39) |
|
probably null |
Het |
| Lcn3 |
T |
C |
2: 25,656,068 (GRCm39) |
F41S |
probably damaging |
Het |
| Map3k8 |
T |
C |
18: 4,334,060 (GRCm39) |
H344R |
probably damaging |
Het |
| Marf1 |
A |
T |
16: 13,954,865 (GRCm39) |
I884N |
probably damaging |
Het |
| Nalcn |
G |
A |
14: 123,530,877 (GRCm39) |
T1387I |
probably damaging |
Het |
| Nrros |
T |
C |
16: 31,962,398 (GRCm39) |
T540A |
probably damaging |
Het |
| Or5p63 |
A |
T |
7: 107,811,349 (GRCm39) |
I129N |
probably damaging |
Het |
| Pgrmc2 |
A |
G |
3: 41,037,068 (GRCm39) |
V121A |
probably damaging |
Het |
| Phldb2 |
C |
T |
16: 45,571,868 (GRCm39) |
V1175M |
probably damaging |
Het |
| Prss3b |
A |
C |
6: 41,009,247 (GRCm39) |
S196A |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,290,393 (GRCm39) |
|
probably null |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Syt7 |
A |
G |
19: 10,395,354 (GRCm39) |
T55A |
probably benign |
Het |
| Tfcp2l1 |
T |
C |
1: 118,581,457 (GRCm39) |
S137P |
probably damaging |
Het |
| Tom1 |
T |
A |
8: 75,778,603 (GRCm39) |
V140D |
probably damaging |
Het |
| Ttc23l |
T |
G |
15: 10,515,224 (GRCm39) |
I385L |
probably damaging |
Het |
| Vmn1r122 |
A |
G |
7: 20,867,896 (GRCm39) |
V53A |
probably damaging |
Het |
| Vmn2r1 |
C |
T |
3: 64,012,146 (GRCm39) |
T669I |
probably benign |
Het |
| Vmn2r86 |
A |
G |
10: 130,291,726 (GRCm39) |
L13P |
probably benign |
Het |
| Zfp958 |
T |
C |
8: 4,678,377 (GRCm39) |
I134T |
probably benign |
Het |
|
| Other mutations in Pank2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Pank2
|
APN |
2 |
131,116,089 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0242:Pank2
|
UTSW |
2 |
131,122,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Pank2
|
UTSW |
2 |
131,122,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0492:Pank2
|
UTSW |
2 |
131,122,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0513:Pank2
|
UTSW |
2 |
131,124,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1415:Pank2
|
UTSW |
2 |
131,124,638 (GRCm39) |
nonsense |
probably null |
|
|
R1622:Pank2
|
UTSW |
2 |
131,115,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2217:Pank2
|
UTSW |
2 |
131,124,601 (GRCm39) |
splice site |
probably null |
|
|
R4690:Pank2
|
UTSW |
2 |
131,115,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4691:Pank2
|
UTSW |
2 |
131,138,201 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5387:Pank2
|
UTSW |
2 |
131,116,182 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6175:Pank2
|
UTSW |
2 |
131,122,181 (GRCm39) |
nonsense |
probably null |
|
|
R6806:Pank2
|
UTSW |
2 |
131,104,627 (GRCm39) |
unclassified |
probably benign |
|
|
R6848:Pank2
|
UTSW |
2 |
131,124,546 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7467:Pank2
|
UTSW |
2 |
131,115,967 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7723:Pank2
|
UTSW |
2 |
131,122,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8504:Pank2
|
UTSW |
2 |
131,135,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8905:Pank2
|
UTSW |
2 |
131,124,646 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTTCGAAAACTGGATGAACTAG -3'
(R):5'- TGGAATGAGTCTGTTAAGGCAACAC -3'
Sequencing Primer
(F):5'- TCGAAAACTGGATGAACTAGATTGC -3'
(R):5'- GAGTCTGTTAAGGCAACACTTAATG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation