Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03266:Itprid2'

415094

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itprid2

Ensembl Gene

ENSMUSG00000027007

Gene Name

ITPR interacting domain containing 2

Synonyms

Ssfa2, CS1, CS-1, SPAG13, KRAP

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.493) question?

Stock #

IGL03266

Quality Score

Status

Chromosome

Chromosomal Location

79465696-79503310 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 79472534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107418 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111784] [ENSMUST00000111785] [ENSMUST00000111788]

AlphaFold

Q922B9

Predicted Effect

probably null
Transcript: ENSMUST00000111784

SMART Domains

Protein: ENSMUSP00000107414
Gene: ENSMUSG00000027007

Domain	Start	End	E-Value	Type
low complexity region	35	57	N/A	INTRINSIC
KRAP_IP3R_bind	144	302	6.78e-81	SMART
low complexity region	357	374	N/A	INTRINSIC
low complexity region	423	445	N/A	INTRINSIC
low complexity region	743	759	N/A	INTRINSIC
Pfam:SSFA2_C	858	1029	7.5e-88	PFAM
low complexity region	1081	1095	N/A	INTRINSIC
low complexity region	1144	1156	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000111785

SMART Domains

Protein: ENSMUSP00000107415
Gene: ENSMUSG00000027007

Domain	Start	End	E-Value	Type
low complexity region	35	57	N/A	INTRINSIC
KRAP_IP3R_bind	144	302	6.78e-81	SMART
low complexity region	357	374	N/A	INTRINSIC
low complexity region	423	445	N/A	INTRINSIC
low complexity region	743	759	N/A	INTRINSIC
Pfam:SSFA2_C	861	1029	8.9e-83	PFAM
low complexity region	1103	1117	N/A	INTRINSIC
low complexity region	1166	1178	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000111788

SMART Domains

Protein: ENSMUSP00000107418
Gene: ENSMUSG00000027007

Domain	Start	End	E-Value	Type
low complexity region	35	57	N/A	INTRINSIC
KRAP_IP3R_bind	144	302	6.78e-81	SMART
low complexity region	357	374	N/A	INTRINSIC
low complexity region	423	445	N/A	INTRINSIC
low complexity region	743	759	N/A	INTRINSIC
Pfam:SSFA2_C	858	1029	7.4e-88	PFAM
low complexity region	1103	1117	N/A	INTRINSIC
low complexity region	1166	1178	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133266

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display decreased body weight, resistance to diet induced obesity, increased food intake, decreased adipose tissue mass, elevated metabolic rate, abnormal glucose homeostasis, and abnormal hormone levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	T	6: 88,815,916 (GRCm39)	V185E	probably damaging	Het
Acly	T	C	11: 100,374,578 (GRCm39)	E815G	probably damaging	Het
Actr10	T	G	12: 71,003,440 (GRCm39)	S261A	probably benign	Het
Als2cl	T	C	9: 110,719,924 (GRCm39)	V504A	possibly damaging	Het
Btla	T	C	16: 45,059,638 (GRCm39)	I114T	probably damaging	Het
Cacna2d3	T	A	14: 29,022,705 (GRCm39)	I348L	probably benign	Het
Chst15	T	A	7: 131,871,805 (GRCm39)	I159F	probably damaging	Het
Creld1	T	A	6: 113,466,558 (GRCm39)	H208Q	probably benign	Het
Fap	C	T	2: 62,367,366 (GRCm39)	V334I	probably benign	Het
Fat2	C	T	11: 55,174,855 (GRCm39)	V1953M	possibly damaging	Het
Fgfr3	G	A	5: 33,891,709 (GRCm39)	A595T	probably damaging	Het
Gm8122	T	A	14: 43,090,116 (GRCm39)	M125L	unknown	Het
Klk1b1	T	G	7: 43,619,900 (GRCm39)	L153R	probably benign	Het
Lrig3	T	A	10: 125,849,151 (GRCm39)	M957K	probably benign	Het
Mc3r	C	T	2: 172,091,189 (GRCm39)	A137V	probably benign	Het
Met	T	A	6: 17,540,537 (GRCm39)	L821Q	possibly damaging	Het
Mrps17	T	C	5: 129,793,806 (GRCm39)		probably benign	Het
Myh2	A	G	11: 67,067,150 (GRCm39)	T202A	probably benign	Het
Nae1	T	C	8: 105,239,828 (GRCm39)		probably benign	Het
Pkhd1l1	T	A	15: 44,402,348 (GRCm39)	I2240N	probably damaging	Het
Stat6	T	C	10: 127,493,024 (GRCm39)	L552P	possibly damaging	Het
Trbv3	C	A	6: 41,025,658 (GRCm39)	Q83K	probably benign	Het
Uaca	A	T	9: 60,770,689 (GRCm39)	D344V	probably damaging	Het
Ube2q2l	T	C	6: 136,377,921 (GRCm39)	E303G	probably damaging	Het
Uggt1	A	T	1: 36,189,129 (GRCm39)	D1452E	probably damaging	Het
Vwf	T	C	6: 125,655,040 (GRCm39)		probably benign	Het

Other mutations in Itprid2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00785:Itprid2	APN	2	79,487,612 (GRCm39)	missense	possibly damaging	0.94
IGL00792:Itprid2	APN	2	79,487,807 (GRCm39)	missense	probably benign	0.01
IGL00900:Itprid2	APN	2	79,490,822 (GRCm39)	missense	probably damaging	1.00
IGL00902:Itprid2	APN	2	79,490,822 (GRCm39)	missense	probably damaging	1.00
IGL01682:Itprid2	APN	2	79,465,981 (GRCm39)	missense	probably damaging	1.00
IGL01683:Itprid2	APN	2	79,501,069 (GRCm39)	intron	probably benign
IGL01832:Itprid2	APN	2	79,481,762 (GRCm39)	missense	possibly damaging	0.94
IGL02253:Itprid2	APN	2	79,490,788 (GRCm39)	missense	probably damaging	1.00
IGL02342:Itprid2	APN	2	79,490,629 (GRCm39)	missense	probably benign	0.01
IGL02420:Itprid2	APN	2	79,465,986 (GRCm39)	missense	probably damaging	0.99
IGL02445:Itprid2	APN	2	79,487,842 (GRCm39)	missense	probably damaging	0.98
IGL02649:Itprid2	APN	2	79,472,303 (GRCm39)	splice site	probably benign
IGL03242:Itprid2	APN	2	79,473,815 (GRCm39)	nonsense	probably null
IGL03342:Itprid2	APN	2	79,490,796 (GRCm39)	missense	probably damaging	1.00
IGL03352:Itprid2	APN	2	79,475,445 (GRCm39)	missense	probably damaging	1.00
R0255:Itprid2	UTSW	2	79,490,810 (GRCm39)	missense	probably damaging	1.00
R0526:Itprid2	UTSW	2	79,487,690 (GRCm39)	missense	probably benign	0.01
R0543:Itprid2	UTSW	2	79,474,850 (GRCm39)	missense	possibly damaging	0.79
R1114:Itprid2	UTSW	2	79,487,873 (GRCm39)	missense	probably damaging	1.00
R1701:Itprid2	UTSW	2	79,466,394 (GRCm39)	missense	probably damaging	1.00
R1734:Itprid2	UTSW	2	79,488,166 (GRCm39)	missense	probably damaging	1.00
R1945:Itprid2	UTSW	2	79,492,996 (GRCm39)	missense	probably benign	0.03
R2188:Itprid2	UTSW	2	79,475,267 (GRCm39)	missense	probably benign	0.01
R2941:Itprid2	UTSW	2	79,466,000 (GRCm39)	missense	probably benign	0.19
R4087:Itprid2	UTSW	2	79,488,691 (GRCm39)	nonsense	probably null
R4107:Itprid2	UTSW	2	79,475,175 (GRCm39)	missense	probably damaging	0.97
R4355:Itprid2	UTSW	2	79,472,342 (GRCm39)	missense	probably benign	0.02
R4497:Itprid2	UTSW	2	79,488,164 (GRCm39)	missense	probably damaging	1.00
R4615:Itprid2	UTSW	2	79,492,726 (GRCm39)	missense	probably damaging	0.99
R4726:Itprid2	UTSW	2	79,493,101 (GRCm39)	missense	probably damaging	1.00
R5818:Itprid2	UTSW	2	79,474,937 (GRCm39)	missense	probably damaging	1.00
R5889:Itprid2	UTSW	2	79,488,072 (GRCm39)	missense	probably damaging	1.00
R6169:Itprid2	UTSW	2	79,475,406 (GRCm39)	missense	probably damaging	0.99
R6337:Itprid2	UTSW	2	79,485,463 (GRCm39)	missense	probably damaging	1.00
R6677:Itprid2	UTSW	2	79,485,445 (GRCm39)	missense	possibly damaging	0.92
R6709:Itprid2	UTSW	2	79,475,276 (GRCm39)	missense	probably benign	0.00
R6855:Itprid2	UTSW	2	79,488,049 (GRCm39)	missense	probably damaging	1.00
R6856:Itprid2	UTSW	2	79,488,049 (GRCm39)	missense	probably damaging	1.00
R7075:Itprid2	UTSW	2	79,466,004 (GRCm39)	missense	probably damaging	0.99
R7319:Itprid2	UTSW	2	79,466,416 (GRCm39)	missense	probably damaging	1.00
R7414:Itprid2	UTSW	2	79,475,072 (GRCm39)	missense	possibly damaging	0.95
R7590:Itprid2	UTSW	2	79,488,454 (GRCm39)	missense	possibly damaging	0.88
R7722:Itprid2	UTSW	2	79,492,689 (GRCm39)	missense	probably damaging	1.00
R7923:Itprid2	UTSW	2	79,492,959 (GRCm39)	nonsense	probably null
R8155:Itprid2	UTSW	2	79,475,177 (GRCm39)	missense	probably benign	0.01
R8175:Itprid2	UTSW	2	79,488,496 (GRCm39)	missense	probably damaging	1.00
R8237:Itprid2	UTSW	2	79,487,614 (GRCm39)	missense	probably benign	0.01
R8341:Itprid2	UTSW	2	79,488,062 (GRCm39)	missense	probably damaging	1.00
R8353:Itprid2	UTSW	2	79,475,129 (GRCm39)	missense	probably benign	0.01
R8364:Itprid2	UTSW	2	79,481,787 (GRCm39)	missense	probably damaging	0.99
R8365:Itprid2	UTSW	2	79,492,689 (GRCm39)	missense	probably damaging	1.00
R8453:Itprid2	UTSW	2	79,475,129 (GRCm39)	missense	probably benign	0.01
R8507:Itprid2	UTSW	2	79,475,208 (GRCm39)	missense	probably benign
R8874:Itprid2	UTSW	2	79,487,684 (GRCm39)	missense	probably benign
R8953:Itprid2	UTSW	2	79,490,839 (GRCm39)	missense	probably damaging	1.00
R8978:Itprid2	UTSW	2	79,491,257 (GRCm39)	missense	probably damaging	1.00
R9033:Itprid2	UTSW	2	79,465,938 (GRCm39)	missense	probably damaging	0.97
R9067:Itprid2	UTSW	2	79,475,180 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02