Mutagenetix > Incidental Mutation

Incidental Mutation 'R0492:Pank2'

42525

Institutional Source

Beutler Lab

Gene Symbol

Pank2

Ensembl Gene

ENSMUSG00000037514

Gene Name

pantothenate kinase 2

Synonyms

4933409I19Rik

MMRRC Submission

038690-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R0492 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131104415-131141108 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 131122180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 235 (Y235C)

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

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 damaging
Transcript: ENSMUST00000150843
AA Change: Y235C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119606
Gene: ENSMUSG00000037514
AA Change: Y235C

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

Meta Mutation Damage Score

0.8801

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

99% (99/100)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	C	G	4: 129,901,624 (GRCm39)	P416R	probably damaging	Het
Adgre1	A	G	17: 57,709,742 (GRCm39)	D133G	unknown	Het
Alpl	A	C	4: 137,476,887 (GRCm39)		probably null	Het
Ankrd65	T	C	4: 155,875,133 (GRCm39)		probably benign	Het
Baalc	A	T	15: 38,797,480 (GRCm39)		probably benign	Het
Bpifb5	A	G	2: 154,070,820 (GRCm39)	T204A	probably benign	Het
Bud31	A	G	5: 145,083,265 (GRCm39)	Y77C	probably damaging	Het
Calhm6	G	A	10: 34,003,647 (GRCm39)	R87*	probably null	Het
Capsl	A	G	15: 9,461,930 (GRCm39)		probably benign	Het
Ccna1	A	G	3: 54,956,004 (GRCm39)	V116A	probably damaging	Het
Cdc42bpa	C	A	1: 179,928,755 (GRCm39)	H723N	probably benign	Het
Cfap161	T	C	7: 83,443,245 (GRCm39)	I40V	possibly damaging	Het
CK137956	C	T	4: 127,845,093 (GRCm39)	V217I	probably benign	Het
Cog5	A	G	12: 31,919,460 (GRCm39)	T540A	probably damaging	Het
Cps1	T	C	1: 67,196,995 (GRCm39)	W349R	probably damaging	Het
Crispld2	G	T	8: 120,752,806 (GRCm39)	V285L	probably benign	Het
Crtc2	T	A	3: 90,170,804 (GRCm39)	F626I	probably damaging	Het
Daam1	G	A	12: 71,991,154 (GRCm39)	R256H	unknown	Het
Dhx38	G	T	8: 110,288,576 (GRCm39)		probably benign	Het
Dok4	G	A	8: 95,591,764 (GRCm39)	A324V	probably benign	Het
Dscam	T	C	16: 96,626,982 (GRCm39)		probably null	Het
Dusp16	A	T	6: 134,695,365 (GRCm39)	S489T	probably benign	Het
Ecpas	A	G	4: 58,864,418 (GRCm39)	W288R	probably damaging	Het
Erbin	A	T	13: 103,970,866 (GRCm39)	Y917N	probably damaging	Het
F13b	A	T	1: 139,450,297 (GRCm39)		probably null	Het
Fdx1	C	A	9: 51,874,725 (GRCm39)	A15S	probably benign	Het
Ffar4	A	T	19: 38,085,630 (GRCm39)	Q19L	probably benign	Het
Folh1	A	C	7: 86,395,400 (GRCm39)	V344G	probably damaging	Het
Fscb	T	A	12: 64,520,292 (GRCm39)	E391D	possibly damaging	Het
Gigyf2	G	A	1: 87,368,568 (GRCm39)	G1083R	probably damaging	Het
Gm14403	C	A	2: 177,200,359 (GRCm39)	H102N	probably benign	Het
Gm4847	A	G	1: 166,457,961 (GRCm39)	F464S	probably damaging	Het
Gpam	A	T	19: 55,084,611 (GRCm39)	M56K	possibly damaging	Het
Gpr165	T	A	X: 95,760,778 (GRCm39)	F352I	probably damaging	Het
Grik2	T	G	10: 48,977,260 (GRCm39)	I891L	probably damaging	Het
Gsr	T	C	8: 34,171,603 (GRCm39)		probably benign	Het
Hhla1	A	G	15: 65,808,140 (GRCm39)	F302L	probably benign	Het
Impg1	T	C	9: 80,252,590 (GRCm39)	D453G	possibly damaging	Het
Inpp5d	T	A	1: 87,625,872 (GRCm39)	V495E	possibly damaging	Het
Iqca1l	A	T	5: 24,759,626 (GRCm39)	L48Q	probably damaging	Het
Iqce	A	T	5: 140,660,990 (GRCm39)	L450H	probably damaging	Het
Itfg2	A	G	6: 128,390,486 (GRCm39)		probably null	Het
Kif13a	A	G	13: 46,966,218 (GRCm39)	V400A	possibly damaging	Het
Kif7	T	C	7: 79,363,629 (GRCm39)	Y93C	probably damaging	Het
Krt33a	A	G	11: 99,906,909 (GRCm39)	V22A	probably benign	Het
Lct	T	C	1: 128,228,319 (GRCm39)	D1058G	probably damaging	Het
Lrp6	G	T	6: 134,457,481 (GRCm39)	D774E	possibly damaging	Het
Lrrc9	T	A	12: 72,525,537 (GRCm39)	S828R	possibly damaging	Het
Ly75	A	G	2: 60,138,620 (GRCm39)	W1416R	probably damaging	Het
Mdh2	T	C	5: 135,819,004 (GRCm39)	I320T	possibly damaging	Het
Med13l	T	A	5: 118,876,560 (GRCm39)	V912E	probably damaging	Het
Mgarp	T	C	3: 51,296,456 (GRCm39)	D182G	possibly damaging	Het
Mllt10	T	C	2: 18,151,698 (GRCm39)		probably benign	Het
Mmp28	G	A	11: 83,334,629 (GRCm39)	A375V	probably damaging	Het
Mrps23	T	A	11: 88,101,511 (GRCm39)	H133Q	probably benign	Het
Msh6	T	C	17: 88,282,679 (GRCm39)	S35P	probably benign	Het
Myo3a	A	G	2: 22,328,447 (GRCm39)	D347G	possibly damaging	Het
Npc1l1	T	C	11: 6,173,040 (GRCm39)	K800E	possibly damaging	Het
Or2ag13	A	T	7: 106,473,084 (GRCm39)	Y123N	probably damaging	Het
Or51ai2	T	C	7: 103,586,971 (GRCm39)	I128T	probably benign	Het
Or5i1	T	G	2: 87,613,166 (GRCm39)	I94S	probably damaging	Het
Or5m9	T	C	2: 85,876,931 (GRCm39)	V35A	probably benign	Het
Or5m9	T	C	2: 85,877,278 (GRCm39)	F151L	possibly damaging	Het
Or5t7	G	A	2: 86,506,834 (GRCm39)	P281L	probably damaging	Het
Or6p1	T	A	1: 174,258,129 (GRCm39)	I45N	possibly damaging	Het
Osmr	A	C	15: 6,853,999 (GRCm39)	W570G	probably damaging	Het
Otol1	A	T	3: 69,935,117 (GRCm39)	I370F	probably damaging	Het
Pias2	T	C	18: 77,193,581 (GRCm39)	S187P	probably damaging	Het
Pkhd1l1	A	G	15: 44,383,086 (GRCm39)	N1115S	probably benign	Het
Pld1	G	T	3: 28,163,966 (GRCm39)	A800S	probably damaging	Het
Prex2	T	C	1: 11,256,857 (GRCm39)		probably benign	Het
Ptpn3	T	C	4: 57,194,304 (GRCm39)	Q908R	probably benign	Het
Rab3gap2	T	A	1: 184,984,589 (GRCm39)		probably benign	Het
Rbm24	A	T	13: 46,573,826 (GRCm39)	N82Y	probably damaging	Het
Rpl27	T	C	11: 101,336,081 (GRCm39)	V47A	possibly damaging	Het
Serpina1f	A	G	12: 103,659,826 (GRCm39)	V152A	possibly damaging	Het
Serpina5	A	G	12: 104,068,392 (GRCm39)	Y151C	probably damaging	Het
Serpinb7	A	G	1: 107,379,737 (GRCm39)	*381W	probably null	Het
Sh2b2	A	G	5: 136,261,117 (GRCm39)	F33S	probably damaging	Het
Slc22a2	A	C	17: 12,834,159 (GRCm39)	I476L	probably benign	Het
Slc6a12	A	T	6: 121,332,331 (GRCm39)	I222F	probably benign	Het
Smim26	G	A	2: 144,437,033 (GRCm39)	D61N	probably damaging	Het
Soat1	A	T	1: 156,268,924 (GRCm39)	Y209N	probably benign	Het
Sorl1	T	C	9: 41,902,667 (GRCm39)	H1630R	probably null	Het
Sptlc2	A	T	12: 87,393,580 (GRCm39)		probably null	Het
Strn3	G	A	12: 51,657,187 (GRCm39)	T642I	probably damaging	Het
Syce1l	T	A	8: 114,380,700 (GRCm39)	D137E	possibly damaging	Het
Syne2	T	C	12: 76,028,837 (GRCm39)		probably null	Het
Tcf25	C	A	8: 124,108,203 (GRCm39)	P86Q	probably benign	Het
Tmem19	A	T	10: 115,197,715 (GRCm39)	Y43*	probably null	Het
Tmem30b	T	C	12: 73,592,942 (GRCm39)	N58D	probably benign	Het
Tnn	A	C	1: 159,948,327 (GRCm39)	I795M	probably damaging	Het
Tnpo1	A	G	13: 98,991,954 (GRCm39)	Y641H	probably damaging	Het
Tra2a	A	T	6: 49,227,889 (GRCm39)		probably benign	Het
Trappc8	A	T	18: 20,999,243 (GRCm39)	F295I	probably benign	Het
Vmn2r101	T	A	17: 19,809,245 (GRCm39)	W125R	probably damaging	Het
Vps8	C	A	16: 21,261,107 (GRCm39)	F82L	probably damaging	Het
Ythdf2	A	T	4: 131,931,779 (GRCm39)	S460R	probably damaging	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
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
R7010:Pank2	UTSW	2	131,122,293 (GRCm39)	missense	probably benign
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'- AGAGGTTCCTGCTTTCTGCTGC -3'
(R):5'- GAAGGATTTACCTGGTGCCTGTGAC -3'

Sequencing Primer
(F):5'- gctcacacctgtagtcctacc -3'
(R):5'- GTTCACCAGAAGCAGAGGAT -3'

Posted On

2013-05-23