Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01666:Itpr3'

103307

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 #

IGL01666

Quality Score

Status

Chromosome

Chromosomal Location

27276278-27341197 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27336152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 2293 (I2293V)

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 benign
Transcript: ENSMUST00000049308
AA Change: I2293V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000038150
Gene: ENSMUSG00000042644
AA Change: I2293V

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

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	C	A	1: 25,499,832 (GRCm39)	A664S	probably damaging	Het
Ankrd61	T	A	5: 143,827,954 (GRCm39)	L297F	probably damaging	Het
Chrnd	A	T	1: 87,126,458 (GRCm39)	S513C	possibly damaging	Het
Col24a1	G	A	3: 145,050,447 (GRCm39)	V645M	possibly damaging	Het
Csn3	T	C	5: 88,078,016 (GRCm39)	V174A	unknown	Het
D630039A03Rik	C	T	4: 57,910,570 (GRCm39)	V81I	possibly damaging	Het
Deptor	G	A	15: 55,012,775 (GRCm39)	R54Q	probably damaging	Het
Ell	A	G	8: 71,038,463 (GRCm39)	H400R	probably benign	Het
Fcgbpl1	G	A	7: 27,852,717 (GRCm39)	V1335M	probably damaging	Het
Itga2	A	G	13: 114,973,627 (GRCm39)		probably null	Het
Matcap2	A	G	9: 22,342,994 (GRCm39)	D163G	probably benign	Het
Mmut	T	C	17: 41,269,702 (GRCm39)	L687P	probably damaging	Het
Mrps27	A	G	13: 99,546,324 (GRCm39)	E241G	probably damaging	Het
Myh9	C	T	15: 77,646,131 (GRCm39)	A1951T	probably benign	Het
Oca2	G	A	7: 55,964,559 (GRCm39)		probably null	Het
Or2n1c	C	T	17: 38,519,780 (GRCm39)	L215F	probably benign	Het
Or6d15	T	A	6: 116,559,296 (GRCm39)	I204F	possibly damaging	Het
Ptgdr2	T	C	19: 10,918,274 (GRCm39)	F264L	probably benign	Het
Ptpn23	T	C	9: 110,215,613 (GRCm39)	T1384A	possibly damaging	Het
Rasgrf2	A	T	13: 92,174,718 (GRCm39)	D170E	probably damaging	Het
Rnf20	C	T	4: 49,654,486 (GRCm39)	Q848*	probably null	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
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
IGL03404:Itpr3	APN	17	27,310,492 (GRCm39)	missense	probably damaging	1.00
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

2014-01-21