Mutagenetix > Incidental Mutation

Incidental Mutation 'R9558:Itprid1'

720857

Institutional Source

Beutler Lab

Gene Symbol

Itprid1

Ensembl Gene

ENSMUSG00000037973

Gene Name

ITPR interacting domain containing 1

Synonyms

D530004J12Rik, Ccdc129

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9558 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55813880-55955720 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55944969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 563 (H563Q)

Ref Sequence

ENSEMBL: ENSMUSP00000045332 (fasta)

Gene Model

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

AlphaFold

Q14B48

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044729
AA Change: H563Q

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045332
Gene: ENSMUSG00000037973
AA Change: H563Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	T	10: 76,290,576 (GRCm39)	P126L	probably damaging	Het
Adh7	T	A	3: 137,932,043 (GRCm39)	I219N	probably damaging	Het
Ash1l	A	G	3: 88,889,521 (GRCm39)	S467G	probably benign	Het
Atm	T	C	9: 53,412,081 (GRCm39)	I992V	probably benign	Het
Bdnf	T	C	2: 109,539,999 (GRCm39)	V31A		Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Ccnk	A	T	12: 108,155,397 (GRCm39)	K118I	possibly damaging	Het
Ccr2	T	A	9: 123,906,104 (GRCm39)	V128E	possibly damaging	Het
Cd163	C	A	6: 124,297,471 (GRCm39)	N872K	probably benign	Het
Cd38	A	G	5: 44,057,792 (GRCm39)	I121M	probably damaging	Het
Cntnap5c	A	T	17: 58,671,157 (GRCm39)		probably null	Het
Cyp11b1	T	C	15: 74,710,789 (GRCm39)	E257G	probably benign	Het
Cyp2d40	T	C	15: 82,645,667 (GRCm39)	T113A	unknown	Het
Ddx23	A	G	15: 98,545,433 (GRCm39)	V625A	possibly damaging	Het
Dnaaf9	T	C	2: 130,617,660 (GRCm39)	N433D	probably damaging	Het
Fbxw17	T	C	13: 50,577,311 (GRCm39)	Y68H	probably damaging	Het
Fignl1	C	T	11: 11,751,778 (GRCm39)	V426I	possibly damaging	Het
Ggn	C	G	7: 28,871,973 (GRCm39)	P487R	probably damaging	Het
Gjb6	G	A	14: 57,362,261 (GRCm39)		probably benign	Het
Gm5930	A	G	14: 44,576,014 (GRCm39)	F2L	possibly damaging	Het
Il1r2	A	G	1: 40,162,422 (GRCm39)	E355G	probably damaging	Het
Jarid2	C	T	13: 45,068,253 (GRCm39)	R1092W	possibly damaging	Het
Lama1	A	G	17: 68,124,004 (GRCm39)	T2810A		Het
Ltn1	A	T	16: 87,220,295 (GRCm39)	S267R	probably benign	Het
Mapre2	T	A	18: 23,991,195 (GRCm39)	H196Q	possibly damaging	Het
Mfap4	A	C	11: 61,376,965 (GRCm39)	S65R	probably benign	Het
Mterf1a	C	T	5: 3,941,807 (GRCm39)	W20*	probably null	Het
Myh1	C	G	11: 67,108,618 (GRCm39)	H1345D	possibly damaging	Het
Myh3	T	A	11: 66,983,316 (GRCm39)	C948S	possibly damaging	Het
Ndufa8	A	G	2: 35,926,605 (GRCm39)	S144P	probably benign	Het
Nudc	G	A	4: 133,260,776 (GRCm39)	R257C	probably benign	Het
Nufip1	A	G	14: 76,348,481 (GRCm39)	M37V	probably benign	Het
Ogn	A	G	13: 49,764,783 (GRCm39)	E61G	probably benign	Het
Or52n5	T	C	7: 104,588,615 (GRCm39)	V294A	possibly damaging	Het
Pcdh8	A	G	14: 80,006,380 (GRCm39)	S728P	probably damaging	Het
Pdzrn4	A	G	15: 92,299,877 (GRCm39)	D249G	possibly damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Setd2	C	T	9: 110,376,628 (GRCm39)	H148Y	probably damaging	Het
Smok2b	G	A	17: 13,453,884 (GRCm39)	G15R	probably damaging	Het
Sun1	A	G	5: 139,211,019 (GRCm39)	T91A	probably benign	Het
Tbc1d31	G	A	15: 57,795,988 (GRCm39)	A194T	probably damaging	Het
Tiparp	C	T	3: 65,438,852 (GRCm39)	S56F	possibly damaging	Het
Tmf1	C	T	6: 97,147,293 (GRCm39)	E558K	possibly damaging	Het
Trip6	A	G	5: 137,309,075 (GRCm39)	S344P	probably benign	Het
Ube2q1	A	G	3: 89,686,766 (GRCm39)	K207E	probably benign	Het
Ubr2	A	G	17: 47,262,843 (GRCm39)	V1256A	probably benign	Het
Vmn1r69	T	A	7: 10,314,185 (GRCm39)	Y182F	probably benign	Het
Wipf1	C	A	2: 73,268,020 (GRCm39)	R126L	probably damaging	Het
Zc3hav1	T	C	6: 38,331,042 (GRCm39)	E39G	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
R0326:Itprid1	UTSW	6	55,875,228 (GRCm39)	missense	possibly damaging	0.61
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
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'- CATGACAAGCTCATCTTTGTTGAG -3'
(R):5'- TGCTTGGTATCAGGGCAGAC -3'

Sequencing Primer
(F):5'- GAAGAAAATGCTTCAGCTTCTGTGG -3'
(R):5'- AGACTTTGCAGTTGTCCTCTG -3'

Posted On

2022-08-09