Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01683:Itprid2'

103871

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 essential (E-score: 0.550) question?

Stock #

IGL01683

Quality Score

Status

Chromosome

Chromosomal Location

79465696-79503310 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 79501069 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 benign
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 benign
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 benign
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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,214,288 (GRCm39)	L188Q	probably damaging	Het
Abcc8	T	A	7: 45,801,091 (GRCm39)	I446F	possibly damaging	Het
Ankrd34c	T	C	9: 89,611,850 (GRCm39)	T164A	probably benign	Het
Bsn	C	A	9: 107,992,095 (GRCm39)	R1219L	possibly damaging	Het
Cdk2ap1	C	T	5: 124,488,242 (GRCm39)		probably benign	Het
Ces2f	T	C	8: 105,679,733 (GRCm39)	F409L	probably benign	Het
Clcc1	G	A	3: 108,584,112 (GRCm39)	A499T	probably benign	Het
Foxm1	T	G	6: 128,350,451 (GRCm39)	I584S	probably benign	Het
Ftcd	T	C	10: 76,415,963 (GRCm39)	I199T	probably damaging	Het
Gjb6	C	A	14: 57,361,815 (GRCm39)	A149S	probably benign	Het
H2-M2	A	T	17: 37,792,406 (GRCm39)	H288Q	possibly damaging	Het
Os9	A	G	10: 126,935,972 (GRCm39)	Y258H	probably damaging	Het
Phldb3	T	C	7: 24,318,862 (GRCm39)	F337S	possibly damaging	Het
Pla2g4a	T	G	1: 149,733,405 (GRCm39)	Y448S	probably benign	Het
Sgk3	T	A	1: 9,952,091 (GRCm39)	V239D	probably damaging	Het
Tek	T	C	4: 94,747,148 (GRCm39)	Y903H	probably damaging	Het
Tenm4	C	A	7: 96,534,611 (GRCm39)	H1752Q	possibly damaging	Het
Tns1	C	T	1: 73,992,428 (GRCm39)	R750Q	probably damaging	Het
Tubb2a	A	T	13: 34,260,530 (GRCm39)		probably null	Het
Zfp106	T	C	2: 120,355,036 (GRCm39)	N1245S	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
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
IGL03266:Itprid2	APN	2	79,472,534 (GRCm39)	critical splice donor site	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

2014-01-21