Mutagenetix > Incidental Mutations

Incidental Mutation 'R6004:Inpp4a'

478488

Institutional Source

Beutler Lab

Gene Symbol

Inpp4a

Ensembl Gene

ENSMUSG00000026113

Gene Name

inositol polyphosphate-4-phosphatase, type I

Synonyms

107kDa

MMRRC Submission

044182-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.307) question?

Stock #

R6004 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37299865-37410736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37372370 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 372 (S372P)

Ref Sequence

ENSEMBL: ENSMUSP00000121107 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027287] [ENSMUST00000058307] [ENSMUST00000114933] [ENSMUST00000132401] [ENSMUST00000132615] [ENSMUST00000136846] [ENSMUST00000137266] [ENSMUST00000140264] [ENSMUST00000168546] [ENSMUST00000193774]

Predicted Effect

probably damaging
Transcript: ENSMUST00000027287
AA Change: S372P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027287
Gene: ENSMUSG00000026113
AA Change: S372P

Domain	Start	End	E-Value	Type
Blast:C2	49	142	1e-57	BLAST
SCOP:d1bdya_	50	168	7e-5	SMART
low complexity region	565	590	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058307
AA Change: S107P

PolyPhen 2 Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000057233
Gene: ENSMUSG00000026113
AA Change: S107P

Domain	Start	End	E-Value	Type
transmembrane domain	651	673	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114933
AA Change: S107P

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110583
Gene: ENSMUSG00000026113
AA Change: S107P

Domain	Start	End	E-Value	Type
low complexity region	300	325	N/A	INTRINSIC
transmembrane domain	662	684	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132401
AA Change: S372P

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000123071
Gene: ENSMUSG00000026113
AA Change: S372P

Domain	Start	End	E-Value	Type
Blast:C2	49	142	1e-57	BLAST
SCOP:d1bdya_	50	168	6e-5	SMART
low complexity region	602	623	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000132615
AA Change: S372P

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115249
Gene: ENSMUSG00000026113
AA Change: S372P

Domain	Start	End	E-Value	Type
Blast:C2	49	142	1e-57	BLAST
SCOP:d1bdya_	50	168	7e-5	SMART
low complexity region	565	590	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000136846
AA Change: S372P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121518
Gene: ENSMUSG00000026113
AA Change: S372P

Domain	Start	End	E-Value	Type
Blast:C2	49	142	9e-58	BLAST
SCOP:d1bdya_	50	168	7e-5	SMART
low complexity region	559	584	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137266
AA Change: S372P

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000121803
Gene: ENSMUSG00000026113
AA Change: S372P

Domain	Start	End	E-Value	Type
Blast:C2	49	142	1e-57	BLAST
SCOP:d1bdya_	50	168	6e-5	SMART
low complexity region	377	391	N/A	INTRINSIC
low complexity region	607	628	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000140264
AA Change: S372P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121107
Gene: ENSMUSG00000026113
AA Change: S372P

Domain	Start	End	E-Value	Type
Blast:C2	49	142	7e-58	BLAST
SCOP:d1bdya_	50	168	7e-5	SMART
low complexity region	377	391	N/A	INTRINSIC
low complexity region	564	589	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168546
AA Change: S107P

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130443
Gene: ENSMUSG00000026113
AA Change: S107P

Domain	Start	End	E-Value	Type
transmembrane domain	651	673	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193774

SMART Domains

Protein: ENSMUSP00000142118
Gene: ENSMUSG00000026113

Domain	Start	End	E-Value	Type
Blast:C2	45	87	7e-13	BLAST

Meta Mutation Damage Score

0.0703

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 96.8%
20x: 89.1%

Validation Efficiency

98% (55/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an Mg++ independent enzyme that hydrolyzes the 4-position phosphate from the inositol ring of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate, and inositol 3,4-bisphosphate. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit small size, ataxia, loss of cerebellar and hippocampal CA1 neurons, and death by 24 days of age from seizures and/or malnutrition. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	C	T	3: 97,175,681	A336V	probably benign	Het
Adam5	T	A	8: 24,781,669	Y574F	probably benign	Het
Arl6	A	T	16: 59,623,894	W80R	probably damaging	Het
Arntl	A	T	7: 113,280,727	D22V	probably damaging	Het
Cars2	A	G	8: 11,547,743	I111T	probably damaging	Het
Chrd	T	C	16: 20,735,237	L317S	possibly damaging	Het
Cyp4a12b	A	G	4: 115,433,467	D262G	probably benign	Het
Dcaf6	A	G	1: 165,388,685	S450P	probably benign	Het
Dnah3	T	C	7: 120,086,297	D164G	probably benign	Het
Gpx6	A	C	13: 21,319,069	T218P	probably benign	Het
Htr1f	T	C	16: 64,925,876	N351S	probably damaging	Het
Idua	A	G	5: 108,680,644	E241G	probably benign	Het
Ighv14-2	T	A	12: 113,994,635	Q62L	probably damaging	Het
Ighv1-65	C	T	12: 115,532,436		noncoding transcript	Het
Itgax	A	T	7: 128,131,452	H114L	probably damaging	Het
Lama2	A	T	10: 27,235,785	F746L	probably benign	Het
Lrrc37a	C	T	11: 103,502,536	V688M	possibly damaging	Het
Ltbp2	A	G	12: 84,876,149	V28A	probably benign	Het
Mill2	A	T	7: 18,856,538	D166V	probably benign	Het
Mroh2a	G	A	1: 88,248,655	C982Y	probably damaging	Het
Msh3	T	A	13: 92,342,414		probably null	Het
Myh15	A	T	16: 49,159,699	M1395L	probably benign	Het
Npepps	T	C	11: 97,223,124	E642G	probably benign	Het
Nrg4	T	C	9: 55,259,383	T68A	possibly damaging	Het
Olfr1016	A	T	2: 85,799,382	V296E	probably damaging	Het
Olfr1130	T	A	2: 87,607,909	F174I	probably damaging	Het
Olfr1313	G	T	2: 112,072,026	L186I	probably damaging	Het
Olfr32	T	C	2: 90,138,999	N47D	probably benign	Het
Olfr792	T	A	10: 129,540,890	Y118N	probably benign	Het
Olfr890	A	G	9: 38,143,960	K270R	probably damaging	Het
Otogl	T	A	10: 107,879,529	I429F	probably damaging	Het
Pank4	G	T	4: 154,977,221	G532C	probably damaging	Het
Plce1	A	G	19: 38,721,871	T1150A	probably damaging	Het
Ppp2r2b	T	C	18: 43,059,159		probably null	Het
Prkrip1	A	G	5: 136,197,782	M68T	probably damaging	Het
Psme4	T	A	11: 30,856,896		probably benign	Het
Raet1d	T	A	10: 22,371,394	I123N	probably damaging	Het
Rp1	T	G	1: 4,197,585	T825P	unknown	Het
Rttn	T	C	18: 89,021,692	I839T	probably damaging	Het
Sgo2b	G	A	8: 63,926,673	Q1042*	probably null	Het
Skint11	A	G	4: 114,231,728	T240A	probably benign	Het
Speg	A	T	1: 75,415,603	K1382*	probably null	Het
Srsf7	A	T	17: 80,205,853	D68E	probably damaging	Het
Stag3	A	T	5: 138,289,206	D131V	probably damaging	Het
Strip2	T	A	6: 29,926,571	C152S	probably damaging	Het
Timm44	G	T	8: 4,267,747	D191E	probably benign	Het
Tlnrd1	A	G	7: 83,882,779	V148A	probably damaging	Het
Trp63	T	C	16: 25,763,396		probably null	Het
Tusc3	G	C	8: 39,071,406	G200R	probably damaging	Het
Vmn2r10	T	G	5: 108,999,078	N448T	probably benign	Het
Vmn2r50	G	A	7: 10,050,059	R163C	probably benign	Het
Vmn2r53	T	C	7: 12,582,401	H497R	probably benign	Het
Vps39	A	G	2: 120,345,650	V83A	possibly damaging	Het
Ylpm1	A	T	12: 85,029,084	N861I	possibly damaging	Het
Zfp712	A	G	13: 67,041,705	C253R	probably damaging	Het
Zfp930	A	G	8: 69,227,904	T84A	probably benign	Het

Other mutations in Inpp4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01348:Inpp4a	APN	1	37388905	missense	probably damaging	1.00
IGL01821:Inpp4a	APN	1	37377717	missense	probably damaging	1.00
IGL02015:Inpp4a	APN	1	37389712	missense	probably damaging	1.00
IGL02036:Inpp4a	APN	1	37377569	intron	probably benign
IGL02040:Inpp4a	APN	1	37396085	missense	probably damaging	0.99
IGL02082:Inpp4a	APN	1	37366627	intron	probably benign
IGL02318:Inpp4a	APN	1	37368303	missense	probably damaging	1.00
IGL02555:Inpp4a	APN	1	37379968	missense	possibly damaging	0.70
IGL02622:Inpp4a	APN	1	37379034	missense	probably benign	0.26
stultified	UTSW	1	37387830	missense	probably damaging	0.99
R0265:Inpp4a	UTSW	1	37378986	missense	probably damaging	1.00
R0388:Inpp4a	UTSW	1	37396160	missense	probably damaging	0.96
R0543:Inpp4a	UTSW	1	37369492	intron	probably benign
R1269:Inpp4a	UTSW	1	37389742	missense	probably benign	0.01
R1719:Inpp4a	UTSW	1	37398799	missense	probably damaging	1.00
R1799:Inpp4a	UTSW	1	37392978	missense	possibly damaging	0.56
R2127:Inpp4a	UTSW	1	37366919	missense	probably benign	0.08
R2143:Inpp4a	UTSW	1	37387746	missense	probably damaging	1.00
R2174:Inpp4a	UTSW	1	37396130	missense	probably damaging	1.00
R2258:Inpp4a	UTSW	1	37377696	missense	probably damaging	1.00
R2327:Inpp4a	UTSW	1	37366166	missense	probably damaging	0.96
R2437:Inpp4a	UTSW	1	37392956	missense	probably damaging	1.00
R2897:Inpp4a	UTSW	1	37366594	missense	probably benign	0.07
R2898:Inpp4a	UTSW	1	37366594	missense	probably benign	0.07
R4830:Inpp4a	UTSW	1	37371780	missense	probably damaging	1.00
R4934:Inpp4a	UTSW	1	37387841	missense	possibly damaging	0.74
R5141:Inpp4a	UTSW	1	37380087	missense	probably benign	0.17
R5152:Inpp4a	UTSW	1	37358535	missense	possibly damaging	0.88
R5627:Inpp4a	UTSW	1	37367773	missense	probably damaging	0.96
R5789:Inpp4a	UTSW	1	37372329	missense	possibly damaging	0.75
R6107:Inpp4a	UTSW	1	37377748	missense	probably damaging	0.98
R6180:Inpp4a	UTSW	1	37380102	missense	probably benign
R6434:Inpp4a	UTSW	1	37398838	missense	probably damaging	1.00
R6571:Inpp4a	UTSW	1	37387758	missense	probably damaging	1.00
R6766:Inpp4a	UTSW	1	37372341	missense	probably damaging	1.00
R6992:Inpp4a	UTSW	1	37389691	missense	probably damaging	0.98
R7025:Inpp4a	UTSW	1	37369423	missense	probably benign	0.00
R7126:Inpp4a	UTSW	1	37374272	missense	probably benign	0.00
R7473:Inpp4a	UTSW	1	37369453	missense	probably benign	0.37
R7509:Inpp4a	UTSW	1	37387830	missense	probably damaging	0.99
R7654:Inpp4a	UTSW	1	37374098	splice site	probably null
R7920:Inpp4a	UTSW	1	37367805	missense	probably benign	0.08
R8273:Inpp4a	UTSW	1	37368439	intron	probably benign
RF006:Inpp4a	UTSW	1	37388827	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- GCCAGAGGCTGTTTACATGTGG -3'
(R):5'- AGACTAGACTAGTGGCCAGG -3'

Sequencing Primer
(F):5'- GGGCTATAGGTCCCACAATGCTATC -3'
(R):5'- CACAGAGCAGCACAGGGTC -3'

Posted On

2017-06-26