Mutagenetix > Incidental Mutation

Incidental Mutation 'R4056:Ints2'

314259

Institutional Source

Beutler Lab

Gene Symbol

Ints2

Ensembl Gene

ENSMUSG00000018068

Gene Name

integrator complex subunit 2

Synonyms

2810417D08Rik

MMRRC Submission

041617-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4056 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86101507-86148401 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 86133778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 424 (L424R)

Ref Sequence

ENSEMBL: ENSMUSP00000103674 (fasta)

Gene Model

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

AlphaFold

Q80UK8

Predicted Effect

probably damaging
Transcript: ENSMUST00000018212
AA Change: L424R

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

SMART Domains

Protein: ENSMUSP00000018212
Gene: ENSMUSG00000018068
AA Change: L424R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000108039
AA Change: L424R

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

SMART Domains

Protein: ENSMUSP00000103674
Gene: ENSMUSG00000018068
AA Change: L424R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127745

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134883

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143819

Meta Mutation Damage Score

0.6968

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (39/39)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	T	A	11: 80,266,329 (GRCm39)		probably benign	Het
Abcf1	A	G	17: 36,270,807 (GRCm39)	I510T	possibly damaging	Het
Adamts18	T	A	8: 114,464,212 (GRCm39)	K749*	probably null	Het
Alms1	A	G	6: 85,564,785 (GRCm39)	E53G	unknown	Het
Bmper	A	G	9: 23,310,925 (GRCm39)	H453R	probably benign	Het
Btg1	T	A	10: 96,454,216 (GRCm39)	M1K	probably null	Het
Cfap91	A	G	16: 38,118,576 (GRCm39)	V741A	probably benign	Het
Cntfr	A	G	4: 41,658,900 (GRCm39)	I277T	probably damaging	Het
Col6a4	C	A	9: 105,903,665 (GRCm39)	R1642I	probably damaging	Het
Ctnna3	T	C	10: 64,838,347 (GRCm39)	I808T	probably damaging	Het
Cyp1a1	T	A	9: 57,607,432 (GRCm39)	V20D	probably benign	Het
Dnah17	T	C	11: 117,961,364 (GRCm39)	T2554A	probably benign	Het
Fcgbp	A	T	7: 27,803,541 (GRCm39)	Q1715L	probably benign	Het
Gabarapl1	T	C	6: 129,515,593 (GRCm39)	F77S	probably damaging	Het
Gvin3	G	T	7: 106,203,216 (GRCm39)	D9E	possibly damaging	Het
Hpse2	T	C	19: 43,282,714 (GRCm39)	K180E	probably damaging	Het
Hs3st2	T	A	7: 121,099,925 (GRCm39)	L257Q	probably damaging	Het
Ighv1-18	T	C	12: 114,646,287 (GRCm39)	T106A	probably benign	Het
Iqgap2	A	G	13: 95,886,541 (GRCm39)	V114A	probably damaging	Het
Kalrn	A	T	16: 34,134,579 (GRCm39)	I401N	probably damaging	Het
Mast2	T	A	4: 116,194,698 (GRCm39)		probably benign	Het
Myo18a	A	G	11: 77,702,839 (GRCm39)	E5G	possibly damaging	Het
Nav3	A	T	10: 109,716,394 (GRCm39)		probably null	Het
Net1	G	A	13: 3,934,949 (GRCm39)	T359I	probably damaging	Het
Pcsk9	T	A	4: 106,301,899 (GRCm39)	H616L	probably benign	Het
Plekha5	G	T	6: 140,534,958 (GRCm39)	V597L	possibly damaging	Het
Plekhg3	T	A	12: 76,612,021 (GRCm39)	I374N	probably damaging	Het
Pros1	A	T	16: 62,721,008 (GRCm39)	R188*	probably null	Het
Rhbg	C	T	3: 88,150,755 (GRCm39)	V434I	probably damaging	Het
Rims1	A	G	1: 22,363,163 (GRCm39)		probably benign	Het
Rxfp2	T	C	5: 149,975,098 (GRCm39)		probably null	Het
Sbf2	T	C	7: 110,040,673 (GRCm39)	I385V	probably damaging	Het
Slc22a23	A	C	13: 34,482,987 (GRCm39)	Y181*	probably null	Het
Spata31	T	A	13: 65,069,469 (GRCm39)	V539E	probably benign	Het
Trpv5	G	A	6: 41,636,639 (GRCm39)	R436C	probably damaging	Het
Vmn1r13	G	A	6: 57,186,970 (GRCm39)	C43Y	probably benign	Het
Wif1	G	A	10: 120,918,099 (GRCm39)	V156I	probably benign	Het
Zfyve16	T	C	13: 92,641,057 (GRCm39)	N1229S	probably damaging	Het

Other mutations in Ints2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00807:Ints2	APN	11	86,123,961 (GRCm39)	missense	probably damaging	1.00
IGL02490:Ints2	APN	11	86,124,009 (GRCm39)	missense	possibly damaging	0.93
IGL02612:Ints2	APN	11	86,106,404 (GRCm39)	missense	probably damaging	1.00
IGL03396:Ints2	APN	11	86,103,888 (GRCm39)	missense	probably damaging	0.99
R0015:Ints2	UTSW	11	86,140,113 (GRCm39)	missense	probably damaging	1.00
R0015:Ints2	UTSW	11	86,140,113 (GRCm39)	missense	probably damaging	1.00
R0355:Ints2	UTSW	11	86,125,575 (GRCm39)	missense	probably benign	0.00
R0389:Ints2	UTSW	11	86,139,677 (GRCm39)	missense	probably damaging	1.00
R0631:Ints2	UTSW	11	86,124,022 (GRCm39)	missense	probably benign	0.02
R0944:Ints2	UTSW	11	86,135,289 (GRCm39)	missense	possibly damaging	0.85
R1268:Ints2	UTSW	11	86,123,911 (GRCm39)	missense	probably damaging	1.00
R1269:Ints2	UTSW	11	86,123,911 (GRCm39)	missense	probably damaging	1.00
R1270:Ints2	UTSW	11	86,123,911 (GRCm39)	missense	probably damaging	1.00
R1396:Ints2	UTSW	11	86,140,074 (GRCm39)	missense	probably damaging	0.98
R1474:Ints2	UTSW	11	86,117,607 (GRCm39)	missense	probably damaging	0.97
R1503:Ints2	UTSW	11	86,117,607 (GRCm39)	missense	probably damaging	0.97
R1840:Ints2	UTSW	11	86,123,911 (GRCm39)	missense	probably damaging	1.00
R1987:Ints2	UTSW	11	86,108,626 (GRCm39)	missense	probably benign	0.03
R1990:Ints2	UTSW	11	86,139,760 (GRCm39)	missense	possibly damaging	0.58
R1991:Ints2	UTSW	11	86,139,760 (GRCm39)	missense	possibly damaging	0.58
R3694:Ints2	UTSW	11	86,133,827 (GRCm39)	missense	probably benign	0.41
R4057:Ints2	UTSW	11	86,133,778 (GRCm39)	missense	probably damaging	1.00
R4569:Ints2	UTSW	11	86,147,024 (GRCm39)	missense	probably damaging	1.00
R4585:Ints2	UTSW	11	86,140,101 (GRCm39)	missense	probably damaging	1.00
R4586:Ints2	UTSW	11	86,140,101 (GRCm39)	missense	probably damaging	1.00
R4806:Ints2	UTSW	11	86,147,035 (GRCm39)	missense	probably benign	0.10
R4929:Ints2	UTSW	11	86,103,479 (GRCm39)	missense	possibly damaging	0.56
R5031:Ints2	UTSW	11	86,147,026 (GRCm39)	missense	probably damaging	1.00
R5064:Ints2	UTSW	11	86,140,100 (GRCm39)	missense	probably damaging	1.00
R5270:Ints2	UTSW	11	86,106,621 (GRCm39)	missense	probably damaging	1.00
R5621:Ints2	UTSW	11	86,133,773 (GRCm39)	missense	probably benign	0.32
R5875:Ints2	UTSW	11	86,129,138 (GRCm39)	missense	probably benign	0.04
R5908:Ints2	UTSW	11	86,106,371 (GRCm39)	critical splice donor site	probably null
R5914:Ints2	UTSW	11	86,113,000 (GRCm39)	missense	probably benign	0.03
R5941:Ints2	UTSW	11	86,141,798 (GRCm39)	missense	probably benign	0.01
R5975:Ints2	UTSW	11	86,117,574 (GRCm39)	missense	possibly damaging	0.72
R6003:Ints2	UTSW	11	86,129,294 (GRCm39)	missense	probably damaging	1.00
R6091:Ints2	UTSW	11	86,127,429 (GRCm39)	missense	probably damaging	0.96
R6209:Ints2	UTSW	11	86,115,884 (GRCm39)	missense	probably damaging	1.00
R6567:Ints2	UTSW	11	86,117,487 (GRCm39)	missense	probably benign	0.42
R6764:Ints2	UTSW	11	86,103,605 (GRCm39)	missense	probably benign	0.00
R7033:Ints2	UTSW	11	86,123,911 (GRCm39)	missense	probably damaging	1.00
R7132:Ints2	UTSW	11	86,108,580 (GRCm39)	missense	probably benign	0.26
R7337:Ints2	UTSW	11	86,108,668 (GRCm39)	missense	probably benign	0.00
R7410:Ints2	UTSW	11	86,124,052 (GRCm39)	missense	probably benign	0.02
R7483:Ints2	UTSW	11	86,106,444 (GRCm39)	missense	probably damaging	1.00
R7503:Ints2	UTSW	11	86,122,881 (GRCm39)	missense	probably benign
R7804:Ints2	UTSW	11	86,103,489 (GRCm39)	missense	possibly damaging	0.92
R7845:Ints2	UTSW	11	86,129,089 (GRCm39)	missense	possibly damaging	0.93
R7875:Ints2	UTSW	11	86,103,888 (GRCm39)	missense	probably damaging	0.99
R7918:Ints2	UTSW	11	86,113,043 (GRCm39)	missense	probably damaging	1.00
R7922:Ints2	UTSW	11	86,135,453 (GRCm39)	missense	probably benign	0.29
R8058:Ints2	UTSW	11	86,146,179 (GRCm39)	missense	probably benign	0.05
R8134:Ints2	UTSW	11	86,103,486 (GRCm39)	missense	probably damaging	1.00
R8189:Ints2	UTSW	11	86,106,396 (GRCm39)	missense	probably damaging	1.00
R8295:Ints2	UTSW	11	86,115,914 (GRCm39)	missense	probably damaging	0.97
R8348:Ints2	UTSW	11	86,146,249 (GRCm39)	missense	probably benign
R8448:Ints2	UTSW	11	86,146,249 (GRCm39)	missense	probably benign
R8784:Ints2	UTSW	11	86,115,941 (GRCm39)	nonsense	probably null
R8784:Ints2	UTSW	11	86,112,963 (GRCm39)	missense	probably damaging	1.00
R8942:Ints2	UTSW	11	86,103,720 (GRCm39)	missense	probably benign	0.00
R9037:Ints2	UTSW	11	86,106,530 (GRCm39)	missense	probably benign
R9154:Ints2	UTSW	11	86,125,524 (GRCm39)	missense	probably damaging	1.00
R9397:Ints2	UTSW	11	86,135,311 (GRCm39)	missense	probably benign	0.01
R9412:Ints2	UTSW	11	86,117,589 (GRCm39)	missense	probably damaging	0.99
R9472:Ints2	UTSW	11	86,133,824 (GRCm39)	missense
R9476:Ints2	UTSW	11	86,135,335 (GRCm39)	missense	probably benign
R9510:Ints2	UTSW	11	86,135,335 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACACCCTTATTGGTAGTAACACTCC -3'
(R):5'- CATGCCTTCGTGTGTGCTAC -3'

Sequencing Primer
(F):5'- GGTAGTAACACTCCTTCTAGGCG -3'
(R):5'- GTGTGTGCTACTCACCTGCAG -3'

Posted On

2015-04-30