Mutagenetix > Incidental Mutation

Incidental Mutation 'R3694:Ints2'

268912

Institutional Source

Beutler Lab

Gene Symbol

Ints2

Ensembl Gene

ENSMUSG00000018068

Gene Name

integrator complex subunit 2

Synonyms

2810417D08Rik

MMRRC Submission

040689-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3694 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86101507-86148401 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86133827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 408 (M408V)

Ref Sequence

ENSEMBL: ENSMUSP00000103674 (fasta)

Gene Model

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

AlphaFold

Q80UK8

Predicted Effect

probably benign
Transcript: ENSMUST00000018212
AA Change: M408V

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000018212
Gene: ENSMUSG00000018068
AA Change: M408V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000108039
AA Change: M408V

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103674
Gene: ENSMUSG00000018068
AA Change: M408V

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

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
2900092C05Rik	A	G	7: 12,284,443 (GRCm39)	I97V	possibly damaging	Het
AI182371	A	G	2: 34,975,764 (GRCm39)	C267R	probably benign	Het
Ankrd29	G	A	18: 12,387,757 (GRCm39)	A275V	possibly damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp8b1	G	A	18: 64,666,792 (GRCm39)	T1135I	possibly damaging	Het
Avil	T	C	10: 126,844,199 (GRCm39)	Y253H	probably damaging	Het
Bcas3	G	T	11: 85,692,628 (GRCm39)	V338L	probably benign	Het
Cabp2	A	G	19: 4,133,593 (GRCm39)	T12A	probably benign	Het
Ccdc158	T	C	5: 92,757,904 (GRCm39)	E1056G	probably damaging	Het
Clcn7	T	A	17: 25,378,681 (GRCm39)	I722N	probably damaging	Het
Cnga3	T	C	1: 37,300,821 (GRCm39)	Y552H	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Cyp3a25	A	T	5: 145,926,786 (GRCm39)		probably null	Het
Dmrta1	T	A	4: 89,580,415 (GRCm39)	Y458*	probably null	Het
Eya1	A	G	1: 14,299,725 (GRCm39)	Y343H	probably damaging	Het
Fads2b	T	G	2: 85,324,454 (GRCm39)	I291L	probably benign	Het
Fbln5	T	C	12: 101,731,511 (GRCm39)	N228D	probably benign	Het
Fmo5	T	C	3: 97,553,230 (GRCm39)	F393L	probably damaging	Het
Gpr63	A	G	4: 25,007,993 (GRCm39)	Y239C	probably damaging	Het
Lztr1	G	A	16: 17,326,925 (GRCm39)	A12T	possibly damaging	Het
Magi2	A	AG	5: 20,807,459 (GRCm39)		probably null	Het
Mutyh	T	A	4: 116,673,651 (GRCm39)	S146T	possibly damaging	Het
Obscn	T	C	11: 58,969,221 (GRCm39)	K2460E	probably damaging	Het
Or4p18	A	T	2: 88,232,540 (GRCm39)	I246N	possibly damaging	Het
Or5b112	T	C	19: 13,319,893 (GRCm39)	I257T	possibly damaging	Het
Ppfia4	G	T	1: 134,240,305 (GRCm39)	T896K	probably damaging	Het
Ppp2r2a	C	A	14: 67,257,199 (GRCm39)	D344Y	probably damaging	Het
Rbm4	A	G	19: 4,837,411 (GRCm39)	Y358H	probably damaging	Het
Scn9a	T	G	2: 66,392,749 (GRCm39)	E281A	probably benign	Het
Strn	T	C	17: 78,964,421 (GRCm39)	N515D	probably damaging	Het
Stxbp5l	A	T	16: 37,061,708 (GRCm39)	Y367*	probably null	Het
Syt7	G	T	19: 10,413,000 (GRCm39)	R265L	possibly damaging	Het
Tub	A	G	7: 108,627,039 (GRCm39)	S313G	probably benign	Het
Vmn2r18	A	G	5: 151,508,033 (GRCm39)	F364L	probably benign	Het
Vmn2r77	A	G	7: 86,450,044 (GRCm39)	N97D	probably damaging	Het
Vmn2r85	A	G	10: 130,254,171 (GRCm39)	S838P	probably damaging	Het
Vmn2r92	T	A	17: 18,372,205 (GRCm39)	L5*	probably null	Het
Zfyve28	A	G	5: 34,374,812 (GRCm39)	F401L	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
R4056:Ints2	UTSW	11	86,133,778 (GRCm39)	missense	probably damaging	1.00
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'- ACGCTCGTCCGTACATGAAC -3'
(R):5'- ATGCCTTCGTGTGTGCTAC -3'

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

Posted On

2015-02-19