Mutagenetix > Incidental Mutation

Incidental Mutation 'R4781:Inpp5a'

366500

Institutional Source

Beutler Lab

Gene Symbol

Inpp5a

Ensembl Gene

ENSMUSG00000025477

Gene Name

inositol polyphosphate-5-phosphatase A

Synonyms

MMRRC Submission

042415-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4781 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138969025-139159568 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 139057921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 43 (T43I)

Ref Sequence

ENSEMBL: ENSMUSP00000101704 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026550] [ENSMUST00000097975] [ENSMUST00000106098]

AlphaFold

Q7TNC9

Predicted Effect

probably benign
Transcript: ENSMUST00000026550
AA Change: T43I

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000026550
Gene: ENSMUSG00000025477
AA Change: T43I

Domain	Start	End	E-Value	Type
IPPc	8	400	2.48e-165	SMART
low complexity region	415	422	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097975
AA Change: T51I

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000095589
Gene: ENSMUSG00000025477
AA Change: T51I

Domain	Start	End	E-Value	Type
IPPc	25	408	1.84e-150	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106098
AA Change: T43I

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101704
Gene: ENSMUSG00000025477
AA Change: T43I

Domain	Start	End	E-Value	Type
IPPc	8	400	2.48e-165	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131781

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138183

Meta Mutation Damage Score

0.1195

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (74/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane-associated type I inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most mice homozygous for a gene trapped allele show preweaning lethality, while surviving mice exhibit decreased body size, small cerebellum, and early-onset, slowly progressive Purkinje cell degeneration, gliosis, and ataxia. [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
2310022A10Rik	T	A	7: 27,271,076 (GRCm39)	I157N	probably damaging	Het
Adgrl3	T	C	5: 81,908,571 (GRCm39)	Y1165H	probably damaging	Het
Adra2a	A	G	19: 54,034,926 (GRCm39)	D94G	probably damaging	Het
Akr1c20	T	A	13: 4,558,174 (GRCm39)	K197*	probably null	Het
Ankrd65	C	T	4: 155,877,493 (GRCm39)	H335Y	possibly damaging	Het
Axin2	T	A	11: 108,834,682 (GRCm39)	L636Q	probably damaging	Het
Camk1g	G	T	1: 193,038,652 (GRCm39)	T90N	probably benign	Het
Cd177	C	A	7: 24,450,051 (GRCm39)	C528F	probably damaging	Het
Cntnap5a	A	T	1: 116,339,931 (GRCm39)	D730V	possibly damaging	Het
Crtap	T	C	9: 114,215,304 (GRCm39)	D195G	probably benign	Het
Csn1s2b	A	G	5: 87,966,952 (GRCm39)	S74G	possibly damaging	Het
Cyp3a16	T	C	5: 145,392,922 (GRCm39)	R128G	possibly damaging	Het
Dnah7a	A	G	1: 53,464,367 (GRCm39)	F3675L	probably benign	Het
Dram2	T	A	3: 106,478,992 (GRCm39)	W195R	probably damaging	Het
E130308A19Rik	C	T	4: 59,691,057 (GRCm39)	P297L	probably benign	Het
Eif3i	T	C	4: 129,489,066 (GRCm39)	S83G	probably benign	Het
Gabra1	G	A	11: 42,024,488 (GRCm39)	P396S	probably damaging	Het
Gipr	T	A	7: 18,891,300 (GRCm39)	Y459F	possibly damaging	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Gm6981	T	C	9: 51,914,056 (GRCm39)		noncoding transcript	Het
Grin2d	T	C	7: 45,511,905 (GRCm39)	D180G	probably damaging	Het
Hectd4	T	G	5: 121,444,170 (GRCm39)		probably null	Het
Hhat	T	C	1: 192,369,287 (GRCm39)		probably benign	Het
Hoxa6	A	G	6: 52,183,400 (GRCm39)	L215P	possibly damaging	Het
Hsf4	G	A	8: 106,001,384 (GRCm39)		probably null	Het
Igf1r	G	A	7: 67,814,947 (GRCm39)	A283T	possibly damaging	Het
Ighv15-2	A	G	12: 114,528,476 (GRCm39)	S25P	probably damaging	Het
Kmt2c	T	A	5: 25,648,823 (GRCm39)	E82V	probably damaging	Het
Lrrc31	A	G	3: 30,741,526 (GRCm39)		probably benign	Het
Mdga2	A	G	12: 66,844,396 (GRCm39)		probably null	Het
Mefv	G	A	16: 3,533,198 (GRCm39)	P358S	probably benign	Het
Mrgpra9	A	G	7: 46,884,795 (GRCm39)	F291L	possibly damaging	Het
Mtmr3	A	G	11: 4,438,435 (GRCm39)	L673P	probably benign	Het
Muc19	T	C	15: 91,787,360 (GRCm39)		noncoding transcript	Het
Myo5b	A	T	18: 74,877,752 (GRCm39)	T1584S	possibly damaging	Het
Or1x6	A	T	11: 50,939,307 (GRCm39)	R124S	probably damaging	Het
Or4z4	T	C	19: 12,076,731 (GRCm39)	T91A	probably benign	Het
Palld	G	T	8: 62,330,062 (GRCm39)	R272S	probably benign	Het
Pcnx3	T	A	19: 5,737,158 (GRCm39)	N144Y	probably damaging	Het
Prf1	A	G	10: 61,136,203 (GRCm39)	K160E	probably damaging	Het
Rasgrp1	G	A	2: 117,122,190 (GRCm39)	A400V	probably benign	Het
Rnf150	A	G	8: 83,590,781 (GRCm39)	Y48C	probably damaging	Het
Rpl11	G	T	4: 135,777,599 (GRCm39)	Q170K	probably benign	Het
Scin	G	A	12: 40,131,763 (GRCm39)	A257V	possibly damaging	Het
Scn7a	C	A	2: 66,534,104 (GRCm39)	A524S	possibly damaging	Het
Sim1	T	C	10: 50,859,881 (GRCm39)	L581S	probably benign	Het
Skor1	T	C	9: 63,051,741 (GRCm39)	T715A	probably benign	Het
Slc22a26	A	G	19: 7,767,500 (GRCm39)	V301A	probably benign	Het
Sorcs1	T	C	19: 50,171,119 (GRCm39)	Y923C	probably damaging	Het
Src	T	A	2: 157,309,405 (GRCm39)	M304K	possibly damaging	Het
Srgap3	A	T	6: 112,734,386 (GRCm39)		probably benign	Het
Stard3	G	A	11: 98,263,160 (GRCm39)	E72K	possibly damaging	Het
Svep1	T	A	4: 58,070,340 (GRCm39)	N2482I	probably damaging	Het
Tbc1d23	T	C	16: 57,038,778 (GRCm39)	K20R	possibly damaging	Het
Tcstv4	A	C	13: 120,769,698 (GRCm39)	K6T	possibly damaging	Het
Tfip11	G	A	5: 112,481,265 (GRCm39)	E414K	probably damaging	Het
Tinag	G	T	9: 76,904,232 (GRCm39)	T397K	possibly damaging	Het
Traf7	C	G	17: 24,729,412 (GRCm39)		probably benign	Het
Trmt10b	T	A	4: 45,305,817 (GRCm39)	I164N	probably damaging	Het
Trpm1	A	G	7: 63,884,800 (GRCm39)	D827G	probably benign	Het
Ube2u	A	T	4: 100,343,855 (GRCm39)	T85S	probably benign	Het
Ulk4	T	C	9: 120,932,642 (GRCm39)	D1066G	probably benign	Het
Vmn2r72	T	A	7: 85,387,069 (GRCm39)	I832F	probably benign	Het
Yipf1	A	C	4: 107,193,355 (GRCm39)	E80D	probably benign	Het
Zfp40	T	A	17: 23,394,629 (GRCm39)	R653W	probably damaging	Het
Zxdc	A	G	6: 90,349,535 (GRCm39)	T308A	probably damaging	Het

Other mutations in Inpp5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00913:Inpp5a	APN	7	139,096,637 (GRCm39)	missense	probably benign	0.00
IGL01354:Inpp5a	APN	7	139,118,150 (GRCm39)	missense	probably damaging	0.99
IGL01734:Inpp5a	APN	7	139,034,006 (GRCm39)	missense	possibly damaging	0.92
IGL02536:Inpp5a	APN	7	139,147,338 (GRCm39)	missense	probably benign	0.17
IGL03023:Inpp5a	APN	7	139,105,702 (GRCm39)	splice site	probably null
IGL03390:Inpp5a	APN	7	139,105,664 (GRCm39)	missense	probably benign	0.01
Anza	UTSW	7	139,105,654 (GRCm39)	missense	probably damaging	1.00
borrego	UTSW	7	139,105,586 (GRCm39)	missense	probably damaging	1.00
Cervicalis	UTSW	7	139,061,634 (GRCm39)	missense	probably damaging	1.00
Joshua_tree	UTSW	7	139,154,898 (GRCm39)	missense	probably damaging	1.00
PIT4402001:Inpp5a	UTSW	7	139,091,369 (GRCm39)	missense	probably benign	0.02
R0724:Inpp5a	UTSW	7	139,096,579 (GRCm39)	missense	probably benign	0.08
R0940:Inpp5a	UTSW	7	139,105,654 (GRCm39)	missense	probably damaging	1.00
R1258:Inpp5a	UTSW	7	139,105,660 (GRCm39)	missense	probably damaging	1.00
R2112:Inpp5a	UTSW	7	139,154,877 (GRCm39)	missense	probably damaging	0.99
R2328:Inpp5a	UTSW	7	139,058,010 (GRCm39)	nonsense	probably null
R4223:Inpp5a	UTSW	7	139,138,821 (GRCm39)	missense	possibly damaging	0.72
R4307:Inpp5a	UTSW	7	139,154,879 (GRCm39)	missense	possibly damaging	0.87
R4703:Inpp5a	UTSW	7	139,138,839 (GRCm39)	missense	probably damaging	1.00
R4997:Inpp5a	UTSW	7	138,980,654 (GRCm39)	missense	probably benign	0.07
R5762:Inpp5a	UTSW	7	139,118,097 (GRCm39)	missense	possibly damaging	0.95
R6014:Inpp5a	UTSW	7	139,154,898 (GRCm39)	missense	probably damaging	1.00
R6381:Inpp5a	UTSW	7	138,980,589 (GRCm39)	missense	probably benign	0.00
R7255:Inpp5a	UTSW	7	139,091,364 (GRCm39)	missense	probably damaging	0.96
R7324:Inpp5a	UTSW	7	139,105,586 (GRCm39)	missense	probably damaging	1.00
R7362:Inpp5a	UTSW	7	139,158,296 (GRCm39)	missense	probably benign	0.00
R7561:Inpp5a	UTSW	7	139,147,338 (GRCm39)	missense	probably damaging	0.99
R7748:Inpp5a	UTSW	7	139,154,911 (GRCm39)	missense	probably damaging	0.96
R8178:Inpp5a	UTSW	7	139,118,153 (GRCm39)	missense	probably damaging	1.00
R8253:Inpp5a	UTSW	7	139,061,556 (GRCm39)	missense	probably damaging	0.99
R8839:Inpp5a	UTSW	7	138,969,349 (GRCm39)	missense	probably benign	0.07
R9242:Inpp5a	UTSW	7	139,061,634 (GRCm39)	missense	probably damaging	1.00
R9340:Inpp5a	UTSW	7	138,969,380 (GRCm39)	missense	probably benign	0.00
Z1177:Inpp5a	UTSW	7	139,105,691 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAGCACAAAGGTGGCAACTC -3'
(R):5'- GCAGGTTCTAGGAATACCCC -3'

Sequencing Primer
(F):5'- AGGTGGCAACTCATAGAATCTG -3'
(R):5'- ACACCTCTCTGGGGAAATTG -3'

Posted On

2015-12-21