Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03404:Itpr3'

421542

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itpr3

Ensembl Gene

ENSMUSG00000042644

Gene Name

inositol 1,4,5-triphosphate receptor 3

Synonyms

Itpr-3, Ip3r3, tf

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03404

Quality Score

Status

Chromosome

Chromosomal Location

27276278-27341197 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27310492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 425 (D425G)

Ref Sequence

ENSEMBL: ENSMUSP00000038150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049308]

AlphaFold

P70227

PDB Structure

Crystal structure of the ligand binding suppressor domain of type 3 inositol 1,4,5-trisphosphate receptor [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000049308
AA Change: D425G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038150
Gene: ENSMUSG00000042644
AA Change: D425G

Domain	Start	End	E-Value	Type
MIR	113	167	7.75e-6	SMART
MIR	174	224	1.16e-4	SMART
MIR	232	288	1.21e-7	SMART
MIR	295	402	9.38e-14	SMART
Pfam:RYDR_ITPR	473	670	7.8e-64	PFAM
low complexity region	881	889	N/A	INTRINSIC
Pfam:RYDR_ITPR	1175	1333	5.8e-16	PFAM
low complexity region	1549	1567	N/A	INTRINSIC
low complexity region	1831	1851	N/A	INTRINSIC
Pfam:RIH_assoc	1863	1973	2.6e-34	PFAM
transmembrane domain	2203	2225	N/A	INTRINSIC
Pfam:Ion_trans	2235	2527	8.1e-20	PFAM
coiled coil region	2631	2660	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184226

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. The receptor contains a calcium channel at the C-terminus and the ligand-binding site at the N-terminus. Knockout studies in mice suggest that type 2 and type 3 inositol 1,4,5-trisphosphate receptors play a key role in exocrine secretion underlying energy metabolism and growth. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and exhibit no apparent abnormalities in pancreatic and salivary secretion. However, one mutation in this gene results in alternating abnormal hair loss and normal hair growth throughout the life of the mouse and low sweet preference. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap8	T	G	17: 32,531,250 (GRCm39)		probably benign	Het
Ap3d1	A	G	10: 80,565,871 (GRCm39)	S99P	probably damaging	Het
Arhgef1	T	A	7: 24,616,268 (GRCm39)	M304K	probably benign	Het
Arpc5l	T	C	2: 38,903,895 (GRCm39)	L128P	probably damaging	Het
Chl1	A	T	6: 103,670,052 (GRCm39)	I497F	probably damaging	Het
Dnah3	C	T	7: 119,538,200 (GRCm39)	G616E	probably damaging	Het
Filip1	T	C	9: 79,725,841 (GRCm39)	E926G	probably damaging	Het
Fras1	A	T	5: 96,876,440 (GRCm39)	H2391L	probably damaging	Het
Fry	A	T	5: 150,249,633 (GRCm39)	D148V	probably damaging	Het
Glg1	A	T	8: 111,886,534 (GRCm39)	M1086K	probably damaging	Het
Gm12185	T	A	11: 48,798,864 (GRCm39)	Y543F	probably damaging	Het
Gtf3a	T	C	5: 146,887,449 (GRCm39)		probably null	Het
Hydin	A	T	8: 111,296,409 (GRCm39)	Y3646F	probably benign	Het
Lipo3	A	C	19: 33,560,440 (GRCm39)		probably benign	Het
Ltbp1	A	C	17: 75,532,301 (GRCm39)	K443T	probably damaging	Het
Mylk3	A	G	8: 86,069,310 (GRCm39)	I497T	probably damaging	Het
Nlrp5	A	G	7: 23,129,459 (GRCm39)	D842G	probably benign	Het
Or10j3	T	C	1: 173,031,766 (GRCm39)	V281A	probably benign	Het
Or52s6	A	T	7: 103,092,195 (GRCm39)	V45E	possibly damaging	Het
Or6n1	A	G	1: 173,917,464 (GRCm39)	N286S	probably damaging	Het
Or8k3b	A	G	2: 86,520,372 (GRCm39)		probably benign	Het
Pkd1	A	T	17: 24,783,380 (GRCm39)	I120L	probably damaging	Het
Ptprc	T	C	1: 138,020,739 (GRCm39)	N401S	probably damaging	Het
Rptn	A	G	3: 93,305,436 (GRCm39)	H923R	possibly damaging	Het
Rrp8	T	C	7: 105,384,145 (GRCm39)	K119R	probably benign	Het
Setd7	A	T	3: 51,440,407 (GRCm39)	Y211*	probably null	Het
Sfxn5	G	A	6: 85,276,518 (GRCm39)		probably benign	Het
Sun5	T	C	2: 153,712,924 (GRCm39)		probably benign	Het
Tnks	A	T	8: 35,407,858 (GRCm39)	V290D	probably damaging	Het
Trrap	C	T	5: 144,769,996 (GRCm39)	P2740L	probably benign	Het
Ttc23	G	T	7: 67,328,645 (GRCm39)	L195F	probably damaging	Het
Tubb1	G	T	2: 174,299,241 (GRCm39)	G308C	probably damaging	Het
Vmn1r217	A	T	13: 23,298,810 (GRCm39)	F31I	probably benign	Het
Zp1	A	T	19: 10,891,825 (GRCm39)		probably benign	Het

Other mutations in Itpr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00715:Itpr3	APN	17	27,302,603 (GRCm39)	missense	probably benign	0.05
IGL00980:Itpr3	APN	17	27,329,930 (GRCm39)	missense	probably benign
IGL01151:Itpr3	APN	17	27,310,503 (GRCm39)	missense	probably damaging	1.00
IGL01289:Itpr3	APN	17	27,318,739 (GRCm39)	missense	probably damaging	0.99
IGL01403:Itpr3	APN	17	27,337,569 (GRCm39)	missense	probably damaging	0.97
IGL01666:Itpr3	APN	17	27,336,152 (GRCm39)	missense	probably benign	0.02
IGL01897:Itpr3	APN	17	27,330,236 (GRCm39)	missense	probably damaging	1.00
IGL02003:Itpr3	APN	17	27,340,449 (GRCm39)	missense	probably damaging	1.00
IGL02012:Itpr3	APN	17	27,323,069 (GRCm39)	missense	probably benign
IGL02063:Itpr3	APN	17	27,338,997 (GRCm39)	missense	probably benign	0.01
IGL02146:Itpr3	APN	17	27,336,249 (GRCm39)	missense	probably damaging	1.00
IGL02158:Itpr3	APN	17	27,317,416 (GRCm39)	missense	probably damaging	1.00
IGL02177:Itpr3	APN	17	27,318,588 (GRCm39)	missense	possibly damaging	0.74
IGL02247:Itpr3	APN	17	27,317,153 (GRCm39)	missense	probably damaging	1.00
IGL02606:Itpr3	APN	17	27,333,486 (GRCm39)	splice site	probably benign
IGL02651:Itpr3	APN	17	27,325,372 (GRCm39)	missense	probably damaging	0.99
IGL02902:Itpr3	APN	17	27,323,530 (GRCm39)	missense	probably benign	0.21
IGL03001:Itpr3	APN	17	27,308,586 (GRCm39)	splice site	probably benign
IGL03004:Itpr3	APN	17	27,316,952 (GRCm39)	missense	possibly damaging	0.90
IGL03065:Itpr3	APN	17	27,310,907 (GRCm39)	missense	probably damaging	1.00
IGL03117:Itpr3	APN	17	27,338,240 (GRCm39)	missense	probably damaging	1.00
IGL03181:Itpr3	APN	17	27,330,242 (GRCm39)	missense	probably benign
Allure	UTSW	17	27,326,277 (GRCm39)	missense	probably damaging	1.00
alopecia	UTSW	17	27,314,452 (GRCm39)	missense	probably damaging	0.98
Beauty	UTSW	17	27,325,316 (GRCm39)	missense	probably damaging	1.00
Opuesto	UTSW	17	27,306,566 (GRCm39)	missense	probably damaging	1.00
Paradox	UTSW	17	27,317,145 (GRCm39)	missense	probably damaging	1.00
Pulchritude	UTSW	17	27,305,934 (GRCm39)	missense	probably damaging	0.97
R0010:Itpr3	UTSW	17	27,339,951 (GRCm39)	missense	probably damaging	1.00
R0055:Itpr3	UTSW	17	27,317,296 (GRCm39)	missense	probably damaging	1.00
R0068:Itpr3	UTSW	17	27,323,034 (GRCm39)	splice site	probably benign
R0068:Itpr3	UTSW	17	27,323,034 (GRCm39)	splice site	probably benign
R0104:Itpr3	UTSW	17	27,314,966 (GRCm39)	missense	probably benign	0.01
R0195:Itpr3	UTSW	17	27,333,088 (GRCm39)	missense	probably damaging	1.00
R0212:Itpr3	UTSW	17	27,308,293 (GRCm39)	missense	probably damaging	1.00
R0454:Itpr3	UTSW	17	27,332,793 (GRCm39)	missense	probably benign
R0485:Itpr3	UTSW	17	27,330,903 (GRCm39)	missense	probably damaging	0.98
R0501:Itpr3	UTSW	17	27,326,263 (GRCm39)	missense	probably benign	0.09
R0781:Itpr3	UTSW	17	27,329,529 (GRCm39)	missense	probably benign	0.00
R0890:Itpr3	UTSW	17	27,307,985 (GRCm39)	nonsense	probably null
R1028:Itpr3	UTSW	17	27,310,343 (GRCm39)	missense	probably benign	0.04
R1144:Itpr3	UTSW	17	27,333,897 (GRCm39)	missense	probably benign	0.01
R1347:Itpr3	UTSW	17	27,330,535 (GRCm39)	missense	probably benign	0.02
R1347:Itpr3	UTSW	17	27,330,535 (GRCm39)	missense	probably benign	0.02
R1458:Itpr3	UTSW	17	27,337,346 (GRCm39)	missense	probably benign	0.01
R1463:Itpr3	UTSW	17	27,336,128 (GRCm39)	splice site	probably benign
R1472:Itpr3	UTSW	17	27,333,199 (GRCm39)	missense	probably benign	0.09
R1529:Itpr3	UTSW	17	27,324,459 (GRCm39)	splice site	probably null
R1533:Itpr3	UTSW	17	27,314,534 (GRCm39)	missense	possibly damaging	0.71
R1537:Itpr3	UTSW	17	27,333,121 (GRCm39)	missense	possibly damaging	0.96
R1618:Itpr3	UTSW	17	27,335,581 (GRCm39)	critical splice acceptor site	probably null
R1672:Itpr3	UTSW	17	27,307,987 (GRCm39)	missense	probably benign
R1726:Itpr3	UTSW	17	27,330,664 (GRCm39)	missense	probably damaging	0.96
R1865:Itpr3	UTSW	17	27,338,997 (GRCm39)	missense	probably benign	0.01
R1940:Itpr3	UTSW	17	27,330,191 (GRCm39)	missense	probably damaging	1.00
R2023:Itpr3	UTSW	17	27,321,785 (GRCm39)	missense	possibly damaging	0.76
R2063:Itpr3	UTSW	17	27,317,050 (GRCm39)	missense	probably benign	0.19
R2064:Itpr3	UTSW	17	27,317,050 (GRCm39)	missense	probably benign	0.19
R2065:Itpr3	UTSW	17	27,317,050 (GRCm39)	missense	probably benign	0.19
R2067:Itpr3	UTSW	17	27,317,050 (GRCm39)	missense	probably benign	0.19
R2068:Itpr3	UTSW	17	27,317,050 (GRCm39)	missense	probably benign	0.19
R2219:Itpr3	UTSW	17	27,334,027 (GRCm39)	missense	probably benign
R2248:Itpr3	UTSW	17	27,334,033 (GRCm39)	missense	probably damaging	1.00
R2291:Itpr3	UTSW	17	27,332,553 (GRCm39)	missense	possibly damaging	0.92
R2320:Itpr3	UTSW	17	27,314,889 (GRCm39)	missense	probably benign
R2864:Itpr3	UTSW	17	27,310,525 (GRCm39)	missense	probably benign	0.01
R2865:Itpr3	UTSW	17	27,310,525 (GRCm39)	missense	probably benign	0.01
R3778:Itpr3	UTSW	17	27,314,446 (GRCm39)	missense	possibly damaging	0.57
R3881:Itpr3	UTSW	17	27,332,814 (GRCm39)	missense	probably benign	0.01
R3979:Itpr3	UTSW	17	27,310,546 (GRCm39)	missense	probably damaging	1.00
R3979:Itpr3	UTSW	17	27,304,105 (GRCm39)	missense	probably benign	0.23
R4224:Itpr3	UTSW	17	27,326,232 (GRCm39)	missense	probably damaging	1.00
R4259:Itpr3	UTSW	17	27,325,298 (GRCm39)	missense	probably damaging	1.00
R4321:Itpr3	UTSW	17	27,330,948 (GRCm39)	missense	probably benign	0.00
R4466:Itpr3	UTSW	17	27,325,316 (GRCm39)	missense	probably damaging	1.00
R4493:Itpr3	UTSW	17	27,323,586 (GRCm39)	missense	probably damaging	1.00
R4597:Itpr3	UTSW	17	27,312,257 (GRCm39)	missense	probably damaging	1.00
R4823:Itpr3	UTSW	17	27,304,121 (GRCm39)	missense	probably benign	0.30
R4921:Itpr3	UTSW	17	27,316,979 (GRCm39)	missense	probably damaging	1.00
R4974:Itpr3	UTSW	17	27,302,582 (GRCm39)	missense	probably damaging	0.96
R5063:Itpr3	UTSW	17	27,308,885 (GRCm39)	missense	possibly damaging	0.94
R5079:Itpr3	UTSW	17	27,317,397 (GRCm39)	missense	probably damaging	1.00
R5303:Itpr3	UTSW	17	27,335,663 (GRCm39)	missense	probably benign	0.38
R5518:Itpr3	UTSW	17	27,306,566 (GRCm39)	missense	probably damaging	1.00
R5521:Itpr3	UTSW	17	27,326,308 (GRCm39)	missense	probably benign	0.09
R5566:Itpr3	UTSW	17	27,334,926 (GRCm39)	missense	possibly damaging	0.71
R5567:Itpr3	UTSW	17	27,322,880 (GRCm39)	missense	possibly damaging	0.66
R5579:Itpr3	UTSW	17	27,332,493 (GRCm39)	missense	probably damaging	1.00
R5610:Itpr3	UTSW	17	27,337,540 (GRCm39)	missense	probably benign	0.42
R5658:Itpr3	UTSW	17	27,326,852 (GRCm39)	missense	possibly damaging	0.74
R5856:Itpr3	UTSW	17	27,325,379 (GRCm39)	missense	probably damaging	1.00
R5872:Itpr3	UTSW	17	27,305,950 (GRCm39)	missense	probably benign	0.02
R5878:Itpr3	UTSW	17	27,329,836 (GRCm39)	missense	probably benign	0.01
R5889:Itpr3	UTSW	17	27,334,039 (GRCm39)	missense	probably damaging	0.99
R5907:Itpr3	UTSW	17	27,336,867 (GRCm39)	missense	probably damaging	1.00
R5930:Itpr3	UTSW	17	27,329,895 (GRCm39)	missense	possibly damaging	0.49
R5987:Itpr3	UTSW	17	27,323,575 (GRCm39)	missense	probably damaging	1.00
R6029:Itpr3	UTSW	17	27,317,145 (GRCm39)	missense	probably damaging	1.00
R6195:Itpr3	UTSW	17	27,305,934 (GRCm39)	missense	probably damaging	0.97
R6213:Itpr3	UTSW	17	27,330,174 (GRCm39)	missense	probably benign	0.03
R6233:Itpr3	UTSW	17	27,305,934 (GRCm39)	missense	probably damaging	0.97
R6376:Itpr3	UTSW	17	27,314,449 (GRCm39)	missense	possibly damaging	0.94
R6514:Itpr3	UTSW	17	27,310,344 (GRCm39)	missense	probably benign
R6515:Itpr3	UTSW	17	27,310,344 (GRCm39)	missense	probably benign
R6516:Itpr3	UTSW	17	27,310,344 (GRCm39)	missense	probably benign
R6955:Itpr3	UTSW	17	27,340,441 (GRCm39)	missense	probably damaging	1.00
R7002:Itpr3	UTSW	17	27,329,554 (GRCm39)	missense	probably benign	0.00
R7064:Itpr3	UTSW	17	27,308,269 (GRCm39)	missense	probably damaging	1.00
R7257:Itpr3	UTSW	17	27,337,535 (GRCm39)	missense	probably benign	0.00
R7349:Itpr3	UTSW	17	27,326,786 (GRCm39)	splice site	probably null
R7469:Itpr3	UTSW	17	27,340,028 (GRCm39)	missense	possibly damaging	0.74
R7493:Itpr3	UTSW	17	27,313,774 (GRCm39)	missense	probably benign	0.09
R7510:Itpr3	UTSW	17	27,308,013 (GRCm39)	missense	probably damaging	0.97
R7565:Itpr3	UTSW	17	27,329,862 (GRCm39)	missense	probably benign	0.01
R7616:Itpr3	UTSW	17	27,307,951 (GRCm39)	missense	probably damaging	1.00
R7728:Itpr3	UTSW	17	27,317,088 (GRCm39)	missense	probably damaging	1.00
R7779:Itpr3	UTSW	17	27,315,037 (GRCm39)	missense	probably damaging	1.00
R7788:Itpr3	UTSW	17	27,337,571 (GRCm39)	nonsense	probably null
R7871:Itpr3	UTSW	17	27,336,153 (GRCm39)	missense	probably damaging	1.00
R7889:Itpr3	UTSW	17	27,335,751 (GRCm39)	missense	probably damaging	1.00
R7966:Itpr3	UTSW	17	27,331,002 (GRCm39)	critical splice donor site	probably null
R8065:Itpr3	UTSW	17	27,329,836 (GRCm39)	missense	probably benign	0.01
R8067:Itpr3	UTSW	17	27,329,836 (GRCm39)	missense	probably benign	0.01
R8230:Itpr3	UTSW	17	27,326,711 (GRCm39)	critical splice donor site	probably null
R8263:Itpr3	UTSW	17	27,334,887 (GRCm39)	nonsense	probably null
R8264:Itpr3	UTSW	17	27,323,086 (GRCm39)	synonymous	silent
R8269:Itpr3	UTSW	17	27,312,258 (GRCm39)	missense	possibly damaging	0.60
R8271:Itpr3	UTSW	17	27,306,622 (GRCm39)	missense	probably damaging	1.00
R8316:Itpr3	UTSW	17	27,325,199 (GRCm39)	missense	possibly damaging	0.50
R8354:Itpr3	UTSW	17	27,334,893 (GRCm39)	missense	possibly damaging	0.74
R8413:Itpr3	UTSW	17	27,330,900 (GRCm39)	missense	probably damaging	1.00
R8437:Itpr3	UTSW	17	27,326,277 (GRCm39)	missense	probably damaging	1.00
R8676:Itpr3	UTSW	17	27,337,651 (GRCm39)	unclassified	probably benign
R8679:Itpr3	UTSW	17	27,337,651 (GRCm39)	unclassified	probably benign
R8846:Itpr3	UTSW	17	27,330,996 (GRCm39)	missense	probably damaging	1.00
R8884:Itpr3	UTSW	17	27,337,651 (GRCm39)	unclassified	probably benign
R8885:Itpr3	UTSW	17	27,337,651 (GRCm39)	unclassified	probably benign
R8886:Itpr3	UTSW	17	27,337,651 (GRCm39)	unclassified	probably benign
R8887:Itpr3	UTSW	17	27,337,651 (GRCm39)	unclassified	probably benign
R8888:Itpr3	UTSW	17	27,337,651 (GRCm39)	unclassified	probably benign
R8891:Itpr3	UTSW	17	27,337,651 (GRCm39)	unclassified	probably benign
R8896:Itpr3	UTSW	17	27,337,651 (GRCm39)	unclassified	probably benign
R8975:Itpr3	UTSW	17	27,335,628 (GRCm39)	missense	possibly damaging	0.56
R9025:Itpr3	UTSW	17	27,337,651 (GRCm39)	unclassified	probably benign
R9026:Itpr3	UTSW	17	27,337,651 (GRCm39)	unclassified	probably benign
R9063:Itpr3	UTSW	17	27,337,651 (GRCm39)	unclassified	probably benign
R9087:Itpr3	UTSW	17	27,337,651 (GRCm39)	unclassified	probably benign
R9088:Itpr3	UTSW	17	27,337,651 (GRCm39)	unclassified	probably benign
R9089:Itpr3	UTSW	17	27,337,651 (GRCm39)	unclassified	probably benign
R9090:Itpr3	UTSW	17	27,337,651 (GRCm39)	unclassified	probably benign
R9091:Itpr3	UTSW	17	27,337,651 (GRCm39)	unclassified	probably benign
R9200:Itpr3	UTSW	17	27,326,636 (GRCm39)	missense	probably damaging	0.99
R9270:Itpr3	UTSW	17	27,337,651 (GRCm39)	unclassified	probably benign
R9271:Itpr3	UTSW	17	27,337,651 (GRCm39)	unclassified	probably benign
R9294:Itpr3	UTSW	17	27,330,191 (GRCm39)	missense	probably damaging	1.00
R9389:Itpr3	UTSW	17	27,314,899 (GRCm39)	missense	possibly damaging	0.84
R9433:Itpr3	UTSW	17	27,337,651 (GRCm39)	unclassified	probably benign
R9434:Itpr3	UTSW	17	27,337,651 (GRCm39)	unclassified	probably benign
R9443:Itpr3	UTSW	17	27,324,523 (GRCm39)	missense	probably damaging	1.00
R9472:Itpr3	UTSW	17	27,337,651 (GRCm39)	unclassified	probably benign
R9474:Itpr3	UTSW	17	27,337,651 (GRCm39)	unclassified	probably benign
R9475:Itpr3	UTSW	17	27,337,651 (GRCm39)	unclassified	probably benign
R9476:Itpr3	UTSW	17	27,337,651 (GRCm39)	unclassified	probably benign
R9477:Itpr3	UTSW	17	27,337,651 (GRCm39)	unclassified	probably benign
R9507:Itpr3	UTSW	17	27,337,651 (GRCm39)	unclassified	probably benign
R9508:Itpr3	UTSW	17	27,337,651 (GRCm39)	unclassified	probably benign
R9511:Itpr3	UTSW	17	27,337,651 (GRCm39)	unclassified	probably benign
R9694:Itpr3	UTSW	17	27,334,927 (GRCm39)	missense	probably damaging	0.99
R9789:Itpr3	UTSW	17	27,308,915 (GRCm39)	missense	probably benign	0.15
V7732:Itpr3	UTSW	17	27,330,000 (GRCm39)	splice site	probably null
V7732:Itpr3	UTSW	17	27,329,998 (GRCm39)	splice site	probably benign
Z1088:Itpr3	UTSW	17	27,332,502 (GRCm39)	missense	possibly damaging	0.50
Z1177:Itpr3	UTSW	17	27,338,961 (GRCm39)	missense	probably damaging	1.00
Z1177:Itpr3	UTSW	17	27,333,903 (GRCm39)	missense	probably damaging	1.00
Z31818:Itpr3	UTSW	17	27,314,452 (GRCm39)	missense	probably damaging	0.98

Posted On

2016-08-02