Mutagenetix > Incidental Mutation

Incidental Mutation 'R0388:Inpp4a'

31384

Institutional Source

Beutler Lab

Gene Symbol

Inpp4a

Ensembl Gene

ENSMUSG00000026113

Gene Name

inositol polyphosphate-4-phosphatase, type I

Synonyms

107kDa

MMRRC Submission

038594-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.189) question?

Stock #

R0388 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

37299865-37410736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37396160 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 837 (D837G)

Ref Sequence

ENSEMBL: ENSMUSP00000027287 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000027287
AA Change: D837G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027287
Gene: ENSMUSG00000026113
AA Change: D837G

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: D561G

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000057233
Gene: ENSMUSG00000026113
AA Change: D561G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114933
AA Change: D572G

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110583
Gene: ENSMUSG00000026113
AA Change: D572G

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: D870G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000123071
Gene: ENSMUSG00000026113
AA Change: D870G

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

probably benign
Transcript: ENSMUST00000132615
AA Change: D836G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000115249
Gene: ENSMUSG00000026113
AA Change: D836G

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: ENSMUST00000136846
AA Change: D836G

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121518
Gene: ENSMUSG00000026113
AA Change: D836G

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: D875G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000121803
Gene: ENSMUSG00000026113
AA Change: D875G

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 benign
Transcript: ENSMUST00000140264
AA Change: D831G

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000121107
Gene: ENSMUSG00000026113
AA Change: D831G

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

probably benign
Transcript: ENSMUST00000168546
AA Change: D561G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000130443
Gene: ENSMUSG00000026113
AA Change: D561G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000193774
AA Change: D204G

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142118
Gene: ENSMUSG00000026113
AA Change: D204G

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

Meta Mutation Damage Score

0.3005

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.6%
20x: 90.7%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,295,159		probably benign	Het
Acsbg1	T	C	9: 54,609,063	K678R	probably damaging	Het
Adgrg6	A	G	10: 14,450,658	I410T	probably benign	Het
Afap1l2	A	C	19: 56,917,242		probably benign	Het
Aox2	T	C	1: 58,354,406	Y1242H	probably damaging	Het
Apoo-ps	T	C	13: 107,414,673		noncoding transcript	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Cdh3	C	A	8: 106,539,129	T268K	probably damaging	Het
Chd5	T	A	4: 152,371,644	H923Q	probably damaging	Het
Chd7	T	C	4: 8,854,560	V1967A	probably benign	Het
Cntn3	T	C	6: 102,277,316	M222V	probably damaging	Het
Dcaf17	A	G	2: 71,078,571	K277R	probably benign	Het
Dmbt1	T	C	7: 131,096,049		probably benign	Het
Dmpk	T	A	7: 19,084,077		probably benign	Het
Dzank1	A	T	2: 144,476,106	L714Q	possibly damaging	Het
Efcab3	A	G	11: 105,109,401	D272G	possibly damaging	Het
Erbb2	G	C	11: 98,427,351	R471P	possibly damaging	Het
Esf1	T	A	2: 140,120,871	Y760F	possibly damaging	Het
Fanci	C	A	7: 79,439,630	T938K	probably benign	Het
Gnai3	A	G	3: 108,115,757		probably benign	Het
Hspg2	T	A	4: 137,511,158	C319S	probably damaging	Het
Il12a	T	A	3: 68,695,187		probably null	Het
Kcnj5	T	A	9: 32,317,863	E13V	probably damaging	Het
Kcnq3	T	A	15: 66,000,038	Y594F	probably benign	Het
Kif16b	T	C	2: 142,740,937	E556G	probably damaging	Het
Kif28	T	C	1: 179,740,089	I39V	possibly damaging	Het
Lgi2	T	C	5: 52,554,549	E143G	probably damaging	Het
Mast1	T	G	8: 84,915,537	I1063L	probably benign	Het
Med12l	T	C	3: 59,093,504		probably benign	Het
Mmp19	G	T	10: 128,798,883	R456L	probably benign	Het
Mon1b	T	A	8: 113,639,078	V346E	probably damaging	Het
Mpv17l	A	T	16: 13,940,999	I96L	probably benign	Het
Mrgpra9	A	T	7: 47,252,794	M1K	probably null	Het
Mycbp2	A	T	14: 103,156,667	H2819Q	probably benign	Het
Nav1	A	C	1: 135,448,917		probably benign	Het
Neurl4	T	C	11: 69,911,733		probably benign	Het
Ntng2	G	C	2: 29,207,426	P341R	probably damaging	Het
Oas1d	A	T	5: 120,917,028	Y221F	probably damaging	Het
Olfr1040	A	G	2: 86,146,630	Y35H	probably damaging	Het
Olfr348	C	A	2: 36,786,862	D112E	probably benign	Het
Olfr365	A	C	2: 37,202,184		probably null	Het
Osbpl8	A	G	10: 111,272,282	M380V	probably benign	Het
Pank1	T	C	19: 34,821,706		probably benign	Het
Parn	T	C	16: 13,654,476	D169G	possibly damaging	Het
Pknox1	T	A	17: 31,603,192	I311N	probably damaging	Het
Pprc1	T	C	19: 46,062,775	V248A	possibly damaging	Het
Prkcq	T	C	2: 11,254,234	C322R	probably benign	Het
Ptpn13	T	A	5: 103,555,062	I1298N	probably benign	Het
Rab11fip3	A	G	17: 26,069,072	S36P	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Sass6	C	A	3: 116,607,308		probably benign	Het
Shroom3	G	A	5: 92,951,293	G1463D	probably benign	Het
Slc35d1	A	T	4: 103,184,887	Y249*	probably null	Het
Slc9a3	C	T	13: 74,121,536	P8S	unknown	Het
Slc9a9	T	A	9: 94,939,563		probably null	Het
Syne2	T	A	12: 75,986,975	M3666K	probably benign	Het
Synpo2	A	G	3: 123,079,897	V1140A	probably benign	Het
Thada	A	G	17: 84,231,096	F1495L	probably benign	Het
Timeless	A	G	10: 128,241,425		probably null	Het
Tlr6	G	T	5: 64,955,205	H120N	possibly damaging	Het
Tmem173	A	G	18: 35,735,111		probably null	Het
Tns3	T	C	11: 8,445,703	I1234V	probably benign	Het
Ttll9	A	G	2: 153,000,179	S318G	probably benign	Het
Vps13c	T	C	9: 67,922,915		probably benign	Het
Zfp933	T	C	4: 147,826,442	I232M	probably benign	Het
Zfyve27	T	C	19: 42,189,585	S382P	probably damaging	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
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
R6004:Inpp4a	UTSW	1	37372370	missense	probably damaging	0.99
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
R8739:Inpp4a	UTSW	1	37383126	intron	probably benign
R9158:Inpp4a	UTSW	1	37403471	missense	possibly damaging	0.76
R9281:Inpp4a	UTSW	1	37371769	missense	probably damaging	1.00
R9678:Inpp4a	UTSW	1	37366871	missense	probably damaging	0.97
RF006:Inpp4a	UTSW	1	37388827	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- CTTCCTCCAGCCTCTTGGGAAAAC -3'
(R):5'- TGCTGAACCTACACAGTGATGCC -3'

Sequencing Primer
(F):5'- GATAAAGTCTCTACCCTCTGACAGTG -3'
(R):5'- AACCTACACAGTGATGCCCTTTC -3'

Posted On

2013-04-24