Mutagenetix > Incidental Mutation

Incidental Mutation 'R5064:Ints2'

388267

Institutional Source

Beutler Lab

Gene Symbol

Ints2

Ensembl Gene

ENSMUSG00000018068

Gene Name

integrator complex subunit 2

Synonyms

2810417D08Rik

MMRRC Submission

042654-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5064 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86210681-86257575 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86249274 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 244 (R244H)

Ref Sequence

ENSEMBL: ENSMUSP00000103674 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018212] [ENSMUST00000108039] [ENSMUST00000139285]

AlphaFold

Q80UK8

Predicted Effect

probably damaging
Transcript: ENSMUST00000018212
AA Change: R244H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000018212
Gene: ENSMUSG00000018068
AA Change: R244H

Domain	Start	End	E-Value	Type
Pfam:INTS2	24	1131	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108039
AA Change: R244H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103674
Gene: ENSMUSG00000018068
AA Change: R244H

Domain	Start	End	E-Value	Type
Pfam:INTS2	24	1132	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134883

Predicted Effect

probably benign
Transcript: ENSMUST00000139285

SMART Domains

Protein: ENSMUSP00000119084
Gene: ENSMUSG00000018068

Domain	Start	End	E-Value	Type
Pfam:INTS2	24	190	1.4e-69	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143819

Meta Mutation Damage Score

0.1622

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.1%

Validation Efficiency

100% (44/44)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] INTS2 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932431P20Rik	A	G	7: 29,535,655 (GRCm38)		noncoding transcript	Het
Abca12	A	G	1: 71,300,960 (GRCm38)	V1082A	probably damaging	Het
Adamts7	T	A	9: 90,195,830 (GRCm38)	Y1496N	probably damaging	Het
Ascl2	T	C	7: 142,968,259 (GRCm38)	N151D	possibly damaging	Het
Asxl3	G	T	18: 22,516,019 (GRCm38)	S355I	probably benign	Het
Cttnbp2	T	C	6: 18,448,279 (GRCm38)	Q127R	probably damaging	Het
Efhc1	T	A	1: 20,974,963 (GRCm38)	I401N	possibly damaging	Het
Eml6	C	T	11: 29,749,300 (GRCm38)	V1818I	probably benign	Het
Fam129a	A	G	1: 151,689,659 (GRCm38)	I247V	probably benign	Het
Grin1	G	T	2: 25,303,831 (GRCm38)		probably benign	Het
Mfng	C	T	15: 78,764,388 (GRCm38)	R163H	probably benign	Het
Mllt6	C	A	11: 97,673,949 (GRCm38)	A527E	probably damaging	Het
Msh5	G	T	17: 35,043,783 (GRCm38)		probably benign	Het
Mypn	T	A	10: 63,123,371 (GRCm38)	D1057V	possibly damaging	Het
Nasp	A	G	4: 116,611,970 (GRCm38)		probably null	Het
Nat8l	T	C	5: 33,996,869 (GRCm38)	V9A	probably damaging	Het
Nr1h2	G	A	7: 44,551,649 (GRCm38)	A219V	possibly damaging	Het
Nup155	C	A	15: 8,135,870 (GRCm38)	H663Q	probably damaging	Het
Pikfyve	A	G	1: 65,253,407 (GRCm38)	Y1339C	probably damaging	Het
Plppr1	A	T	4: 49,319,974 (GRCm38)	H200L	probably benign	Het
Por	T	C	5: 135,733,795 (GRCm38)	V421A	probably benign	Het
Pxylp1	T	G	9: 96,854,800 (GRCm38)		probably benign	Het
Serpina3a	G	A	12: 104,116,189 (GRCm38)	V74I	probably benign	Het
Sfxn1	T	C	13: 54,085,569 (GRCm38)	I37T	probably benign	Het
Thsd7a	G	T	6: 12,330,952 (GRCm38)	T1397N	possibly damaging	Het
Tnrc6a	T	C	7: 123,186,723 (GRCm38)		probably null	Het
Vmn1r55	A	T	7: 5,146,929 (GRCm38)	M165K	probably benign	Het
Vmn2r58	A	T	7: 41,837,110 (GRCm38)	M787K	probably damaging	Het
Vta1	G	T	10: 14,705,478 (GRCm38)		probably benign	Het
Zfp236	A	G	18: 82,691,576 (GRCm38)		probably null	Het

Other mutations in Ints2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00807:Ints2	APN	11	86,233,135 (GRCm38)	missense	probably damaging	1.00
IGL02490:Ints2	APN	11	86,233,183 (GRCm38)	missense	possibly damaging	0.93
IGL02612:Ints2	APN	11	86,215,578 (GRCm38)	missense	probably damaging	1.00
IGL03396:Ints2	APN	11	86,213,062 (GRCm38)	missense	probably damaging	0.99
R0015:Ints2	UTSW	11	86,249,287 (GRCm38)	missense	probably damaging	1.00
R0015:Ints2	UTSW	11	86,249,287 (GRCm38)	missense	probably damaging	1.00
R0355:Ints2	UTSW	11	86,234,749 (GRCm38)	missense	probably benign	0.00
R0389:Ints2	UTSW	11	86,248,851 (GRCm38)	missense	probably damaging	1.00
R0631:Ints2	UTSW	11	86,233,196 (GRCm38)	missense	probably benign	0.02
R0944:Ints2	UTSW	11	86,244,463 (GRCm38)	missense	possibly damaging	0.85
R1268:Ints2	UTSW	11	86,233,085 (GRCm38)	missense	probably damaging	1.00
R1269:Ints2	UTSW	11	86,233,085 (GRCm38)	missense	probably damaging	1.00
R1270:Ints2	UTSW	11	86,233,085 (GRCm38)	missense	probably damaging	1.00
R1396:Ints2	UTSW	11	86,249,248 (GRCm38)	missense	probably damaging	0.98
R1474:Ints2	UTSW	11	86,226,781 (GRCm38)	missense	probably damaging	0.97
R1503:Ints2	UTSW	11	86,226,781 (GRCm38)	missense	probably damaging	0.97
R1840:Ints2	UTSW	11	86,233,085 (GRCm38)	missense	probably damaging	1.00
R1987:Ints2	UTSW	11	86,217,800 (GRCm38)	missense	probably benign	0.03
R1990:Ints2	UTSW	11	86,248,934 (GRCm38)	missense	possibly damaging	0.58
R1991:Ints2	UTSW	11	86,248,934 (GRCm38)	missense	possibly damaging	0.58
R3694:Ints2	UTSW	11	86,243,001 (GRCm38)	missense	probably benign	0.41
R4056:Ints2	UTSW	11	86,242,952 (GRCm38)	missense	probably damaging	1.00
R4057:Ints2	UTSW	11	86,242,952 (GRCm38)	missense	probably damaging	1.00
R4569:Ints2	UTSW	11	86,256,198 (GRCm38)	missense	probably damaging	1.00
R4585:Ints2	UTSW	11	86,249,275 (GRCm38)	missense	probably damaging	1.00
R4586:Ints2	UTSW	11	86,249,275 (GRCm38)	missense	probably damaging	1.00
R4806:Ints2	UTSW	11	86,256,209 (GRCm38)	missense	probably benign	0.10
R4929:Ints2	UTSW	11	86,212,653 (GRCm38)	missense	possibly damaging	0.56
R5031:Ints2	UTSW	11	86,256,200 (GRCm38)	missense	probably damaging	1.00
R5270:Ints2	UTSW	11	86,215,795 (GRCm38)	missense	probably damaging	1.00
R5621:Ints2	UTSW	11	86,242,947 (GRCm38)	missense	probably benign	0.32
R5875:Ints2	UTSW	11	86,238,312 (GRCm38)	missense	probably benign	0.04
R5908:Ints2	UTSW	11	86,215,545 (GRCm38)	critical splice donor site	probably null
R5914:Ints2	UTSW	11	86,222,174 (GRCm38)	missense	probably benign	0.03
R5941:Ints2	UTSW	11	86,250,972 (GRCm38)	missense	probably benign	0.01
R5975:Ints2	UTSW	11	86,226,748 (GRCm38)	missense	possibly damaging	0.72
R6003:Ints2	UTSW	11	86,238,468 (GRCm38)	missense	probably damaging	1.00
R6091:Ints2	UTSW	11	86,236,603 (GRCm38)	missense	probably damaging	0.96
R6209:Ints2	UTSW	11	86,225,058 (GRCm38)	missense	probably damaging	1.00
R6567:Ints2	UTSW	11	86,226,661 (GRCm38)	missense	probably benign	0.42
R6764:Ints2	UTSW	11	86,212,779 (GRCm38)	missense	probably benign	0.00
R7033:Ints2	UTSW	11	86,233,085 (GRCm38)	missense	probably damaging	1.00
R7132:Ints2	UTSW	11	86,217,754 (GRCm38)	missense	probably benign	0.26
R7337:Ints2	UTSW	11	86,217,842 (GRCm38)	missense	probably benign	0.00
R7410:Ints2	UTSW	11	86,233,226 (GRCm38)	missense	probably benign	0.02
R7483:Ints2	UTSW	11	86,215,618 (GRCm38)	missense	probably damaging	1.00
R7503:Ints2	UTSW	11	86,232,055 (GRCm38)	missense	probably benign
R7804:Ints2	UTSW	11	86,212,663 (GRCm38)	missense	possibly damaging	0.92
R7845:Ints2	UTSW	11	86,238,263 (GRCm38)	missense	possibly damaging	0.93
R7875:Ints2	UTSW	11	86,213,062 (GRCm38)	missense	probably damaging	0.99
R7918:Ints2	UTSW	11	86,222,217 (GRCm38)	missense	probably damaging	1.00
R7922:Ints2	UTSW	11	86,244,627 (GRCm38)	missense	probably benign	0.29
R8058:Ints2	UTSW	11	86,255,353 (GRCm38)	missense	probably benign	0.05
R8134:Ints2	UTSW	11	86,212,660 (GRCm38)	missense	probably damaging	1.00
R8189:Ints2	UTSW	11	86,215,570 (GRCm38)	missense	probably damaging	1.00
R8295:Ints2	UTSW	11	86,225,088 (GRCm38)	missense	probably damaging	0.97
R8348:Ints2	UTSW	11	86,255,423 (GRCm38)	missense	probably benign
R8448:Ints2	UTSW	11	86,255,423 (GRCm38)	missense	probably benign
R8784:Ints2	UTSW	11	86,225,115 (GRCm38)	nonsense	probably null
R8784:Ints2	UTSW	11	86,222,137 (GRCm38)	missense	probably damaging	1.00
R8942:Ints2	UTSW	11	86,212,894 (GRCm38)	missense	probably benign	0.00
R9037:Ints2	UTSW	11	86,215,704 (GRCm38)	missense	probably benign
R9154:Ints2	UTSW	11	86,234,698 (GRCm38)	missense	probably damaging	1.00
R9397:Ints2	UTSW	11	86,244,485 (GRCm38)	missense	probably benign	0.01
R9412:Ints2	UTSW	11	86,226,763 (GRCm38)	missense	probably damaging	0.99
R9472:Ints2	UTSW	11	86,242,998 (GRCm38)	missense
R9476:Ints2	UTSW	11	86,244,509 (GRCm38)	missense	probably benign
R9510:Ints2	UTSW	11	86,244,509 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGCAGCATACTCAGGATATG -3'
(R):5'- TTGCGAATCCCGTTGACTTGG -3'

Sequencing Primer
(F):5'- CTCAGGATATGAATAAAGTTCCCCG -3'
(R):5'- CAATACTATCAAGTTCCCAGGGTCTG -3'

Posted On

2016-06-06