Mutagenetix > Incidental Mutation

Incidental Mutation 'R5387:Pank2'

482201

Institutional Source

Beutler Lab

Gene Symbol

Pank2

Ensembl Gene

ENSMUSG00000037514

Gene Name

pantothenate kinase 2

Synonyms

4933409I19Rik

MMRRC Submission

042959-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R5387 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131262495-131299188 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 131274262 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 200 (T200I)

Ref Sequence

ENSEMBL: ENSMUSP00000119606 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000150843] [ENSMUST00000184105] [ENSMUST00000184932]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131779

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138509

Predicted Effect

unknown
Transcript: ENSMUST00000145904
AA Change: T124I

SMART Domains

Protein: ENSMUSP00000115034
Gene: ENSMUSG00000037514
AA Change: T124I

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: T200I

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000119606
Gene: ENSMUSG00000037514
AA Change: T200I

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

unknown
Transcript: ENSMUST00000183349
AA Change: H26Y

Predicted Effect

unknown
Transcript: ENSMUST00000183388
AA Change: T62I

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

Meta Mutation Damage Score

0.4586

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

99% (80/81)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	A	T	11: 51,685,974 (GRCm38)	D32E	probably benign	Het
2210408I21Rik	T	A	13: 77,259,973 (GRCm38)	S140T	probably benign	Het
Ahnak	T	C	19: 9,003,691 (GRCm38)	S780P	probably damaging	Het
Ankhd1	C	A	18: 36,634,644 (GRCm38)	H1205N	probably damaging	Het
Ano1	T	C	7: 144,648,619 (GRCm38)	K139R	probably benign	Het
Anp32b	T	G	4: 46,468,573 (GRCm38)	C114W	probably damaging	Het
Ascl1	C	T	10: 87,492,689 (GRCm38)	A134T	probably damaging	Het
Atl2	C	T	17: 79,852,800 (GRCm38)	E453K	probably benign	Het
Aup1	C	T	6: 83,055,024 (GRCm38)	A84V	probably damaging	Het
Btbd7	A	T	12: 102,837,785 (GRCm38)	M332K	probably damaging	Het
Cacna1d	A	G	14: 30,100,751 (GRCm38)	V1107A	probably damaging	Het
Cd33	G	A	7: 43,532,053 (GRCm38)	Q114*	probably null	Het
Col4a4	C	T	1: 82,493,591 (GRCm38)	G681E	unknown	Het
Defb22	C	A	2: 152,485,906 (GRCm38)	A120S	unknown	Het
Dnah7b	A	G	1: 46,188,659 (GRCm38)	I1347M	probably damaging	Het
Efcab5	A	G	11: 77,134,842 (GRCm38)	I549T	possibly damaging	Het
Esp15	T	A	17: 39,644,577 (GRCm38)		probably null	Het
Fbxo7	A	G	10: 86,024,654 (GRCm38)	T42A	probably benign	Het
Filip1	A	G	9: 79,818,274 (GRCm38)	I1021T	probably benign	Het
Gad1	C	A	2: 70,563,851 (GRCm38)	S7*	probably null	Het
Gm281	C	A	14: 13,914,438 (GRCm38)	M1I	probably null	Het
H2-Q7	C	T	17: 35,439,542 (GRCm38)	T52M	probably damaging	Het
H2-T3	C	T	17: 36,186,702 (GRCm38)	G28R	probably benign	Het
Hist1h2ad	T	A	13: 23,574,667 (GRCm38)		probably null	Het
Idh2	TCCCAGG	T	7: 80,098,331 (GRCm38)		probably benign	Het
Ift81	A	G	5: 122,555,535 (GRCm38)	Y604H	probably damaging	Het
Igsf11	A	G	16: 39,022,423 (GRCm38)	Y154C	probably damaging	Het
Kif26b	G	T	1: 178,914,876 (GRCm38)	A846S	probably benign	Het
Lnx2	G	A	5: 147,028,154 (GRCm38)	P420S	probably benign	Het
Lrit2	A	G	14: 37,072,259 (GRCm38)	T427A	probably damaging	Het
Lrrc43	G	T	5: 123,499,671 (GRCm38)		probably null	Het
Mug1	T	C	6: 121,884,394 (GRCm38)	Y1325H	probably damaging	Het
Naglu	A	T	11: 101,076,724 (GRCm38)	Y500F	probably damaging	Het
Npy4r	A	G	14: 34,146,983 (GRCm38)	M116T	probably benign	Het
Nrd1	A	G	4: 109,039,762 (GRCm38)	Y526C	probably damaging	Het
Nrp2	T	C	1: 62,762,813 (GRCm38)	S472P	probably benign	Het
Olfr102	T	A	17: 37,314,292 (GRCm38)	T31S	probably benign	Het
Olfr361	T	C	2: 37,085,719 (GRCm38)	T10A	possibly damaging	Het
Otogl	T	A	10: 107,780,933 (GRCm38)	T1828S	probably benign	Het
Pbrm1	A	G	14: 31,082,610 (GRCm38)	Y946C	probably damaging	Het
Pde12	A	T	14: 26,666,453 (GRCm38)	S437T	probably benign	Het
Pikfyve	A	G	1: 65,265,268 (GRCm38)	K1710E	possibly damaging	Het
Plcd3	A	G	11: 103,078,455 (GRCm38)	S229P	probably damaging	Het
Polr3a	T	C	14: 24,454,941 (GRCm38)	I1084V	possibly damaging	Het
Prkaa2	C	A	4: 105,040,177 (GRCm38)	D280Y	probably damaging	Het
Ptprg	T	A	14: 12,153,873 (GRCm38)	S531R	probably damaging	Het
R3hdm2	T	C	10: 127,485,434 (GRCm38)	S620P	probably damaging	Het
Rab33b	A	G	3: 51,493,455 (GRCm38)	T117A	probably damaging	Het
Rasal2	T	C	1: 157,157,765 (GRCm38)	D804G	possibly damaging	Het
Rbp3	A	G	14: 33,956,413 (GRCm38)	T773A	possibly damaging	Het
Rrnad1	A	T	3: 87,930,011 (GRCm38)		probably benign	Het
Rspry1	A	G	8: 94,638,286 (GRCm38)	T185A	possibly damaging	Het
Sec61a2	G	T	2: 5,882,545 (GRCm38)		probably benign	Het
Setx	C	T	2: 29,147,594 (GRCm38)	R1364C	probably benign	Het
Shtn1	G	T	19: 59,038,369 (GRCm38)	L97M	probably damaging	Het
Slc35f1	T	C	10: 53,108,164 (GRCm38)	L340P	probably damaging	Het
Slc45a1	T	A	4: 150,643,909 (GRCm38)		probably benign	Het
Slmap	T	C	14: 26,459,933 (GRCm38)	E386G	probably benign	Het
Smc2	C	T	4: 52,475,096 (GRCm38)	A924V	probably benign	Het
Sp110	C	G	1: 85,589,118 (GRCm38)	E219D	probably damaging	Het
Tecta	G	A	9: 42,375,063 (GRCm38)	L766F	probably damaging	Het
Tle3	C	T	9: 61,407,489 (GRCm38)		probably null	Het
Top3a	A	G	11: 60,762,490 (GRCm38)	F53L	probably damaging	Het
Trem1	T	C	17: 48,241,513 (GRCm38)	I26T	possibly damaging	Het
Ttc7b	G	T	12: 100,446,963 (GRCm38)	Q199K	possibly damaging	Het
Ubap2l	T	C	3: 90,006,596 (GRCm38)	Y975C	probably benign	Het
Ubxn11	C	A	4: 134,123,426 (GRCm38)	D196E	probably damaging	Het
Unc80	A	G	1: 66,530,021 (GRCm38)	H945R	possibly damaging	Het
Usp15	A	G	10: 123,131,286 (GRCm38)	I405T	probably damaging	Het
Uty	C	T	Y: 1,189,339 (GRCm38)	E138K	probably damaging	Het
Wapl	A	G	14: 34,677,295 (GRCm38)	E107G	probably benign	Het
Wbp1l	T	C	19: 46,644,457 (GRCm38)		probably null	Het
Zfp184	T	G	13: 21,949,640 (GRCm38)		probably benign	Het
Zfp36	A	C	7: 28,377,868 (GRCm38)	L205R	possibly damaging	Het

Other mutations in Pank2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Pank2	APN	2	131,274,169 (GRCm38)	missense	possibly damaging	0.69
R0242:Pank2	UTSW	2	131,280,197 (GRCm38)	missense	probably damaging	1.00
R0242:Pank2	UTSW	2	131,280,197 (GRCm38)	missense	probably damaging	1.00
R0492:Pank2	UTSW	2	131,280,260 (GRCm38)	missense	probably damaging	1.00
R0513:Pank2	UTSW	2	131,282,606 (GRCm38)	missense	probably damaging	1.00
R1415:Pank2	UTSW	2	131,282,718 (GRCm38)	nonsense	probably null
R1622:Pank2	UTSW	2	131,273,969 (GRCm38)	missense	probably damaging	1.00
R2217:Pank2	UTSW	2	131,282,681 (GRCm38)	splice site	probably null
R4690:Pank2	UTSW	2	131,274,025 (GRCm38)	missense	probably damaging	1.00
R4691:Pank2	UTSW	2	131,296,281 (GRCm38)	missense	possibly damaging	0.85
R6175:Pank2	UTSW	2	131,280,261 (GRCm38)	nonsense	probably null
R6806:Pank2	UTSW	2	131,262,707 (GRCm38)	unclassified	probably benign
R6848:Pank2	UTSW	2	131,282,626 (GRCm38)	missense	probably damaging	0.98
R7010:Pank2	UTSW	2	131,280,373 (GRCm38)	missense	probably benign
R7467:Pank2	UTSW	2	131,274,047 (GRCm38)	missense	possibly damaging	0.53
R7723:Pank2	UTSW	2	131,280,338 (GRCm38)	missense	probably damaging	1.00
R8504:Pank2	UTSW	2	131,293,400 (GRCm38)	missense	probably benign	0.00
R8905:Pank2	UTSW	2	131,282,726 (GRCm38)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AAGGACCTGACTCTGTGTGG -3'
(R):5'- ACTCCTTAATGAGATGGGGTGATG -3'

Sequencing Primer
(F):5'- CTGACTCTGTGTGGACGCAAAG -3'
(R):5'- TGCTTATCCCATACTCAAAAGTTTTC -3'

Posted On

2017-07-11