Mutagenetix > Incidental Mutation

Incidental Mutation 'R0326:Itprid1'

25823

Institutional Source

Beutler Lab

Gene Symbol

Itprid1

Ensembl Gene

ENSMUSG00000037973

Gene Name

ITPR interacting domain containing 1

Synonyms

D530004J12Rik, Ccdc129

MMRRC Submission

038536-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0326 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55813880-55955720 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55875228 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 393 (M393L)

Ref Sequence

ENSEMBL: ENSMUSP00000045332 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044729]

AlphaFold

Q14B48

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044729
AA Change: M393L

PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000045332
Gene: ENSMUSG00000037973
AA Change: M393L

Domain	Start	End	E-Value	Type
KRAP_IP3R_bind	112	264	2.99e-82	SMART
low complexity region	326	334	N/A	INTRINSIC
low complexity region	432	442	N/A	INTRINSIC
low complexity region	477	496	N/A	INTRINSIC
low complexity region	498	511	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
Pfam:SSFA2_C	806	916	3e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169699

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.8%
20x: 91.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	T	1: 130,670,635 (GRCm39)	P286S	possibly damaging	Het
Aagab	T	A	9: 63,526,444 (GRCm39)	S156T	probably damaging	Het
Abca14	T	G	7: 119,823,642 (GRCm39)	Y390D	probably damaging	Het
Abcc2	T	A	19: 43,814,386 (GRCm39)	I1122N	possibly damaging	Het
Adamts16	T	C	13: 70,927,730 (GRCm39)	E503G	possibly damaging	Het
Adamts9	A	T	6: 92,835,038 (GRCm39)	C697*	probably null	Het
Adgrv1	T	C	13: 81,623,112 (GRCm39)	D3837G	possibly damaging	Het
Ahcyl	T	A	16: 45,974,246 (GRCm39)	D377V	probably benign	Het
Aire	T	A	10: 77,878,433 (GRCm39)	R128S	probably damaging	Het
Alkbh2	A	C	5: 114,262,011 (GRCm39)	*240E	probably null	Het
Als2	T	C	1: 59,219,742 (GRCm39)	Y1191C	probably damaging	Het
Anapc5	A	T	5: 122,952,667 (GRCm39)	V186E	probably benign	Het
Apob	C	T	12: 8,040,307 (GRCm39)	A548V	probably damaging	Het
B3galt4	A	T	17: 34,169,722 (GRCm39)	V172E	probably damaging	Het
Bbs7	A	C	3: 36,646,525 (GRCm39)	C432G	possibly damaging	Het
Cacna2d3	T	A	14: 28,767,601 (GRCm39)	E758V	probably damaging	Het
Cactin	T	G	10: 81,158,496 (GRCm39)	L154R	probably benign	Het
Ccdc88a	A	C	11: 29,411,021 (GRCm39)	R502S	probably benign	Het
Ccnf	A	T	17: 24,450,784 (GRCm39)	I398N	possibly damaging	Het
Chd1	A	T	17: 15,988,828 (GRCm39)	D1527V	probably damaging	Het
Chd1	A	T	17: 15,988,830 (GRCm39)	M1528L	probably benign	Het
Chrac1	G	A	15: 72,964,675 (GRCm39)		probably null	Het
Cln3	T	G	7: 126,182,217 (GRCm39)	M1L	probably damaging	Het
Cnot6	T	C	11: 49,568,263 (GRCm39)	Y442C	probably damaging	Het
Col19a1	A	T	1: 24,324,132 (GRCm39)		probably null	Het
Col1a2	T	C	6: 4,537,838 (GRCm39)	F1116L	unknown	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cops4	T	G	5: 100,676,408 (GRCm39)	V53G	probably damaging	Het
Crnkl1	A	G	2: 145,761,875 (GRCm39)	S561P	probably benign	Het
Ctnnb1	C	A	9: 120,780,778 (GRCm39)	Q99K	probably benign	Het
Cxcr5	T	C	9: 44,424,578 (GRCm39)	S360G	probably benign	Het
Dab2	G	A	15: 6,447,797 (GRCm39)	V60M	probably damaging	Het
Ddx3y	A	T	Y: 1,263,321 (GRCm39)	Y648*	probably null	Het
Dennd2a	T	A	6: 39,474,044 (GRCm39)	D430V	probably damaging	Het
Dsp	G	T	13: 38,376,846 (GRCm39)	E1544*	probably null	Het
Efcab7	A	T	4: 99,719,631 (GRCm39)	M38L	possibly damaging	Het
Fto	A	G	8: 92,136,155 (GRCm39)	N141S	probably damaging	Het
Gabrp	A	G	11: 33,504,362 (GRCm39)	F318L	probably damaging	Het
Gmeb1	A	C	4: 131,969,663 (GRCm39)	C103W	probably damaging	Het
Heatr9	T	C	11: 83,405,365 (GRCm39)	D365G	probably damaging	Het
Hif3a	G	A	7: 16,778,325 (GRCm39)	R436W	probably benign	Het
Hint2	A	G	4: 43,654,378 (GRCm39)	V145A	probably damaging	Het
Hmcn2	T	A	2: 31,313,237 (GRCm39)	L3482*	probably null	Het
Hsd3b1	A	T	3: 98,760,590 (GRCm39)	Y134N	probably damaging	Het
Impg2	T	A	16: 56,080,848 (GRCm39)	V775E	probably damaging	Het
Ipo5	A	G	14: 121,159,635 (GRCm39)	I154M	probably benign	Het
Itgad	T	A	7: 127,797,550 (GRCm39)	F893Y	probably benign	Het
Kdm4a	T	C	4: 118,018,903 (GRCm39)	R438G	probably benign	Het
Klk1b11	T	A	7: 43,425,943 (GRCm39)	M1K	probably null	Het
Lama5	A	T	2: 179,824,219 (GRCm39)	V2602D	possibly damaging	Het
Lrch3	T	C	16: 32,799,870 (GRCm39)	S35P	probably damaging	Het
Mfn2	A	G	4: 147,967,745 (GRCm39)	L441P	probably damaging	Het
Mgat4c	A	T	10: 102,224,565 (GRCm39)	I260F	probably damaging	Het
Mon1b	T	A	8: 114,364,375 (GRCm39)	S51T	probably benign	Het
Myh11	T	C	16: 14,036,744 (GRCm39)	D993G	probably benign	Het
Myo1a	A	G	10: 127,552,166 (GRCm39)	N762D	probably benign	Het
Nacc2	A	T	2: 25,950,345 (GRCm39)	Y464N	probably damaging	Het
Nckap1	A	G	2: 80,383,714 (GRCm39)	I150T	probably benign	Het
Ndufv2	G	T	17: 66,387,816 (GRCm39)	P119T	probably damaging	Het
Noc4l	G	A	5: 110,800,241 (GRCm39)	R95*	probably null	Het
Ntng1	A	T	3: 110,042,819 (GRCm39)	Y2*	probably null	Het
Oog4	T	C	4: 143,165,773 (GRCm39)	N53D	probably benign	Het
Or10ak11	A	T	4: 118,687,022 (GRCm39)	V205D	possibly damaging	Het
Or4d11	C	T	19: 12,013,525 (GRCm39)	V194I	probably benign	Het
Or6c6c	A	G	10: 129,541,638 (GRCm39)	E297G	possibly damaging	Het
Or9i1b	C	T	19: 13,896,873 (GRCm39)	T163I	probably benign	Het
Phkg2	T	G	7: 127,173,075 (GRCm39)	L11R	probably damaging	Het
Pogz	A	G	3: 94,777,424 (GRCm39)	D368G	probably damaging	Het
Prex2	T	A	1: 11,355,289 (GRCm39)	L1530Q	probably damaging	Het
Prmt1	C	T	7: 44,628,878 (GRCm39)	E144K	probably damaging	Het
Prss8	T	A	7: 127,526,348 (GRCm39)	I121F	probably benign	Het
Psmd13	T	C	7: 140,477,624 (GRCm39)	L314P	probably damaging	Het
Ptch2	G	A	4: 116,966,081 (GRCm39)	G467D	probably damaging	Het
Rbm20	C	A	19: 53,852,596 (GRCm39)	P1192Q	probably damaging	Het
Rpl19	T	A	11: 97,919,200 (GRCm39)	D45E	probably benign	Het
Rsph10b	C	T	5: 143,903,946 (GRCm39)	A219V	probably damaging	Het
Rtraf	C	T	14: 19,864,600 (GRCm39)		probably null	Het
Scaf1	T	A	7: 44,658,175 (GRCm39)	T235S	probably damaging	Het
Shank1	T	A	7: 43,968,594 (GRCm39)	C296S	unknown	Het
Slc39a7	A	T	17: 34,247,924 (GRCm39)	V426D	probably damaging	Het
Slc41a2	A	T	10: 83,119,610 (GRCm39)	V384D	probably damaging	Het
Slco1c1	T	C	6: 141,505,499 (GRCm39)	L475P	probably benign	Het
Slco6d1	A	C	1: 98,418,359 (GRCm39)	K515T	probably benign	Het
Sos2	T	C	12: 69,682,459 (GRCm39)	E253G	probably damaging	Het
Sp6	G	T	11: 96,912,361 (GRCm39)	D25Y	possibly damaging	Het
Syt11	A	C	3: 88,669,855 (GRCm39)	D12E	possibly damaging	Het
Taf2	A	G	15: 54,910,856 (GRCm39)	L606P	probably damaging	Het
Tbc1d5	A	G	17: 51,273,764 (GRCm39)	Y116H	probably damaging	Het
Tnfrsf8	A	G	4: 145,015,029 (GRCm39)	I243T	possibly damaging	Het
Tnxb	A	G	17: 34,917,153 (GRCm39)	S2183G	probably benign	Het
Trim66	T	C	7: 109,059,379 (GRCm39)	Y853C	probably benign	Het
Ttn	T	A	2: 76,567,839 (GRCm39)	T27685S	probably damaging	Het
Ttn	T	C	2: 76,573,466 (GRCm39)	E25809G	probably damaging	Het
Uvssa	G	A	5: 33,566,191 (GRCm39)	G445S	probably benign	Het
Zfp326	T	C	5: 106,058,141 (GRCm39)	S427P	probably damaging	Het
Zfp592	A	G	7: 80,674,637 (GRCm39)	T534A	possibly damaging	Het
Zfp672	A	G	11: 58,207,173 (GRCm39)	S383P	possibly damaging	Het
Zfp799	A	G	17: 33,039,700 (GRCm39)	S188P	possibly damaging	Het
Zyg11b	A	C	4: 108,129,450 (GRCm39)	V54G	possibly damaging	Het

Other mutations in Itprid1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Itprid1	APN	6	55,945,022 (GRCm39)	missense	possibly damaging	0.90
IGL01317:Itprid1	APN	6	55,944,790 (GRCm39)	missense	possibly damaging	0.77
IGL01390:Itprid1	APN	6	55,874,983 (GRCm39)	missense	probably benign	0.41
IGL01696:Itprid1	APN	6	55,874,680 (GRCm39)	missense	probably benign	0.40
IGL01941:Itprid1	APN	6	55,945,030 (GRCm39)	missense	probably benign
IGL01967:Itprid1	APN	6	55,874,896 (GRCm39)	missense	probably damaging	0.99
IGL02071:Itprid1	APN	6	55,944,710 (GRCm39)	nonsense	probably null
IGL02232:Itprid1	APN	6	55,944,922 (GRCm39)	missense	unknown
IGL02268:Itprid1	APN	6	55,861,673 (GRCm39)	splice site	probably benign
IGL02440:Itprid1	APN	6	55,861,713 (GRCm39)	missense	possibly damaging	0.95
IGL02614:Itprid1	APN	6	55,945,262 (GRCm39)	missense	probably damaging	0.99
IGL02626:Itprid1	APN	6	55,945,631 (GRCm39)	missense	probably benign	0.03
IGL02674:Itprid1	APN	6	55,874,913 (GRCm39)	missense	probably benign	0.04
IGL02836:Itprid1	APN	6	55,875,075 (GRCm39)	missense	probably damaging	1.00
IGL02884:Itprid1	APN	6	55,851,339 (GRCm39)	splice site	probably null
IGL02889:Itprid1	APN	6	55,878,443 (GRCm39)	missense	possibly damaging	0.46
IGL03103:Itprid1	APN	6	55,945,144 (GRCm39)	missense	possibly damaging	0.59
IGL03117:Itprid1	APN	6	55,875,114 (GRCm39)	missense	probably benign	0.25
IGL03343:Itprid1	APN	6	55,945,569 (GRCm39)	missense	probably damaging	1.00
BB006:Itprid1	UTSW	6	55,874,946 (GRCm39)	missense	probably damaging	1.00
BB016:Itprid1	UTSW	6	55,874,946 (GRCm39)	missense	probably damaging	1.00
PIT4418001:Itprid1	UTSW	6	55,945,330 (GRCm39)	missense	probably damaging	1.00
R0054:Itprid1	UTSW	6	55,849,457 (GRCm39)	utr 5 prime	probably benign
R0200:Itprid1	UTSW	6	55,874,941 (GRCm39)	missense	probably benign	0.10
R0245:Itprid1	UTSW	6	55,874,992 (GRCm39)	missense	probably damaging	1.00
R0320:Itprid1	UTSW	6	55,953,432 (GRCm39)	missense	probably damaging	1.00
R0357:Itprid1	UTSW	6	55,945,019 (GRCm39)	missense	probably benign	0.13
R1109:Itprid1	UTSW	6	55,945,245 (GRCm39)	missense	probably damaging	1.00
R1118:Itprid1	UTSW	6	55,866,155 (GRCm39)	missense	probably damaging	1.00
R1119:Itprid1	UTSW	6	55,866,155 (GRCm39)	missense	probably damaging	1.00
R1462:Itprid1	UTSW	6	55,952,649 (GRCm39)	missense	probably damaging	1.00
R1462:Itprid1	UTSW	6	55,952,649 (GRCm39)	missense	probably damaging	1.00
R1588:Itprid1	UTSW	6	55,955,488 (GRCm39)	missense	possibly damaging	0.72
R1678:Itprid1	UTSW	6	55,945,499 (GRCm39)	missense	probably benign	0.35
R1680:Itprid1	UTSW	6	55,945,751 (GRCm39)	missense	probably damaging	1.00
R1728:Itprid1	UTSW	6	55,945,526 (GRCm39)	missense	probably benign	0.01
R1729:Itprid1	UTSW	6	55,945,526 (GRCm39)	missense	probably benign	0.01
R1737:Itprid1	UTSW	6	55,945,289 (GRCm39)	missense	probably damaging	1.00
R1771:Itprid1	UTSW	6	55,875,132 (GRCm39)	missense	probably benign	0.40
R1784:Itprid1	UTSW	6	55,945,526 (GRCm39)	missense	probably benign	0.01
R1936:Itprid1	UTSW	6	55,874,666 (GRCm39)	missense	probably damaging	1.00
R1995:Itprid1	UTSW	6	55,945,694 (GRCm39)	missense	probably benign	0.03
R2037:Itprid1	UTSW	6	55,874,860 (GRCm39)	missense	probably benign	0.00
R2137:Itprid1	UTSW	6	55,866,174 (GRCm39)	missense	probably damaging	1.00
R2190:Itprid1	UTSW	6	55,874,685 (GRCm39)	missense	possibly damaging	0.87
R2191:Itprid1	UTSW	6	55,944,704 (GRCm39)	missense	probably benign	0.06
R2234:Itprid1	UTSW	6	55,874,797 (GRCm39)	missense	possibly damaging	0.67
R2235:Itprid1	UTSW	6	55,874,797 (GRCm39)	missense	possibly damaging	0.67
R3793:Itprid1	UTSW	6	55,952,588 (GRCm39)	missense	possibly damaging	0.80
R3923:Itprid1	UTSW	6	55,945,045 (GRCm39)	missense	probably benign	0.19
R3959:Itprid1	UTSW	6	55,874,725 (GRCm39)	missense	probably benign
R4332:Itprid1	UTSW	6	55,945,220 (GRCm39)	missense	possibly damaging	0.95
R4485:Itprid1	UTSW	6	55,864,051 (GRCm39)	missense	probably benign	0.00
R4688:Itprid1	UTSW	6	55,944,132 (GRCm39)	splice site	probably null
R4916:Itprid1	UTSW	6	55,955,175 (GRCm39)	missense	possibly damaging	0.77
R5201:Itprid1	UTSW	6	55,944,991 (GRCm39)	missense	probably benign	0.03
R5383:Itprid1	UTSW	6	55,955,275 (GRCm39)	missense	probably benign	0.38
R5450:Itprid1	UTSW	6	55,945,796 (GRCm39)	critical splice donor site	probably null
R5542:Itprid1	UTSW	6	55,955,380 (GRCm39)	missense	probably damaging	0.99
R5819:Itprid1	UTSW	6	55,874,876 (GRCm39)	missense	probably benign	0.18
R5935:Itprid1	UTSW	6	55,874,754 (GRCm39)	nonsense	probably null
R6034:Itprid1	UTSW	6	55,944,666 (GRCm39)	missense	possibly damaging	0.94
R6034:Itprid1	UTSW	6	55,944,666 (GRCm39)	missense	possibly damaging	0.94
R6209:Itprid1	UTSW	6	55,851,306 (GRCm39)	missense	probably damaging	1.00
R6246:Itprid1	UTSW	6	55,944,657 (GRCm39)	missense	probably damaging	1.00
R6463:Itprid1	UTSW	6	55,945,663 (GRCm39)	missense	probably benign	0.17
R6490:Itprid1	UTSW	6	55,953,405 (GRCm39)	missense	probably damaging	1.00
R6948:Itprid1	UTSW	6	55,955,470 (GRCm39)	missense	probably benign
R7148:Itprid1	UTSW	6	55,874,671 (GRCm39)	missense	probably damaging	1.00
R7382:Itprid1	UTSW	6	55,955,404 (GRCm39)	missense	probably benign	0.02
R7403:Itprid1	UTSW	6	55,953,399 (GRCm39)	nonsense	probably null
R7846:Itprid1	UTSW	6	55,955,320 (GRCm39)	missense	possibly damaging	0.89
R7929:Itprid1	UTSW	6	55,874,946 (GRCm39)	missense	probably damaging	1.00
R8054:Itprid1	UTSW	6	55,953,424 (GRCm39)	missense	probably damaging	0.98
R8438:Itprid1	UTSW	6	55,874,878 (GRCm39)	missense	probably damaging	1.00
R8497:Itprid1	UTSW	6	55,875,179 (GRCm39)	missense	probably benign	0.02
R8677:Itprid1	UTSW	6	55,849,579 (GRCm39)	missense	probably benign	0.00
R9090:Itprid1	UTSW	6	55,944,051 (GRCm39)	missense	probably benign	0.28
R9196:Itprid1	UTSW	6	55,952,613 (GRCm39)	missense	probably damaging	1.00
R9271:Itprid1	UTSW	6	55,944,051 (GRCm39)	missense	probably benign	0.28
R9344:Itprid1	UTSW	6	55,955,470 (GRCm39)	missense	probably benign
R9384:Itprid1	UTSW	6	55,952,613 (GRCm39)	missense	probably damaging	1.00
R9558:Itprid1	UTSW	6	55,944,969 (GRCm39)	missense	possibly damaging	0.94
R9711:Itprid1	UTSW	6	55,864,018 (GRCm39)	missense	probably damaging	1.00
Z1177:Itprid1	UTSW	6	55,945,219 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTTGTCCTCCTCTTTGTCCTCCT -3'
(R):5'- AACTGTCTCAGACTAAATTGAATTTGGAACCt -3'

Sequencing Primer
(F):5'- GGCCAAGCAATCTCCTCATA -3'
(R):5'- gactaaacctctaaaactgtaagcc -3'

Posted On

2013-04-16