Mutagenetix > Incidental Mutation

Incidental Mutation 'R7337:Ints2'

569600

Institutional Source

Beutler Lab

Gene Symbol

Ints2

Ensembl Gene

ENSMUSG00000018068

Gene Name

integrator complex subunit 2

Synonyms

2810417D08Rik

MMRRC Submission

045427-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7337 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86101507-86148401 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86108668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 893 (A893V)

Ref Sequence

ENSEMBL: ENSMUSP00000018212 (fasta)

Gene Model

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

AlphaFold

Q80UK8

Predicted Effect

probably benign
Transcript: ENSMUST00000018212
AA Change: A893V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000018212
Gene: ENSMUSG00000018068
AA Change: A893V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000108039
AA Change: A893V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000103674
Gene: ENSMUSG00000018068
AA Change: A893V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000134828

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (88/88)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,076,113 (GRCm39)	H1198Q	probably damaging	Het
Adamts14	A	G	10: 61,043,239 (GRCm39)	V743A	probably damaging	Het
Adgrg6	A	G	10: 14,343,095 (GRCm39)	V284A	possibly damaging	Het
Alb	A	G	5: 90,622,452 (GRCm39)	K560R	probably damaging	Het
Aqp9	A	T	9: 71,069,764 (GRCm39)	F8L	probably benign	Het
Arhgef7	T	C	8: 11,835,789 (GRCm39)	L182P	probably damaging	Het
Atr	A	G	9: 95,753,501 (GRCm39)	D701G	probably damaging	Het
Calr3	C	T	8: 73,185,339 (GRCm39)	D187N	probably damaging	Het
Ccdc198	A	G	14: 49,471,948 (GRCm39)	M163T	possibly damaging	Het
Ccdc65	A	G	15: 98,618,977 (GRCm39)	T319A	probably benign	Het
Ccdc66	A	T	14: 27,222,290 (GRCm39)	L151H	probably damaging	Het
Ces2e	T	A	8: 105,657,688 (GRCm39)		probably null	Het
Cfap46	A	G	7: 139,210,492 (GRCm39)		probably null	Het
Cfap74	A	G	4: 155,544,472 (GRCm39)	T1034A	unknown	Het
Cldnd1	T	G	16: 58,549,322 (GRCm39)		probably null	Het
Clec4f	C	A	6: 83,630,190 (GRCm39)	V123L	probably benign	Het
Cntn6	C	T	6: 104,627,491 (GRCm39)	T108I	probably damaging	Het
Crygn	T	G	5: 24,961,147 (GRCm39)	D53A	possibly damaging	Het
Cyp27a1	T	A	1: 74,774,594 (GRCm39)	V204E	probably damaging	Het
Cyp2c67	A	T	19: 39,597,708 (GRCm39)		probably null	Het
Ddb1	T	C	19: 10,605,195 (GRCm39)	V1061A	possibly damaging	Het
Dnah12	G	T	14: 26,488,534 (GRCm39)		probably null	Het
Draxin	T	C	4: 148,197,216 (GRCm39)	T194A	probably benign	Het
Drosha	T	A	15: 12,846,285 (GRCm39)	D473E	possibly damaging	Het
Ecpas	T	C	4: 58,827,047 (GRCm39)	T1029A	possibly damaging	Het
G6pd2	T	A	5: 61,967,562 (GRCm39)	C446S	probably benign	Het
Gm29106	C	T	1: 118,104,642 (GRCm39)	S3L	unknown	Het
Grin3a	T	C	4: 49,702,762 (GRCm39)	Y908C	probably damaging	Het
Ippk	C	T	13: 49,602,767 (GRCm39)	T371I	probably benign	Het
Irf2	T	A	8: 47,260,316 (GRCm39)	C83S	probably damaging	Het
Jph3	C	T	8: 122,480,441 (GRCm39)	A373V	probably benign	Het
Kcnj6	C	T	16: 94,634,073 (GRCm39)	V13I	probably benign	Het
Lama3	T	C	18: 12,640,097 (GRCm39)		probably null	Het
Lmo7	A	T	14: 102,121,640 (GRCm39)	Q235L	probably damaging	Het
Marchf7	A	G	2: 60,071,189 (GRCm39)		probably null	Het
Mfsd6l	A	T	11: 68,448,109 (GRCm39)	Y320F	possibly damaging	Het
Mroh1	T	A	15: 76,335,676 (GRCm39)	W1440R	probably benign	Het
Mrps17	G	A	5: 129,793,863 (GRCm39)	G19D	probably damaging	Het
Myt1	A	G	2: 181,444,756 (GRCm39)	H566R	possibly damaging	Het
Nav2	T	C	7: 49,201,521 (GRCm39)	L176P	possibly damaging	Het
Nop58	T	A	1: 59,737,599 (GRCm39)	C139S	probably benign	Het
Nsd1	A	G	13: 55,394,022 (GRCm39)	D644G	probably damaging	Het
Nsd2	T	A	5: 34,042,816 (GRCm39)	C1027S	probably damaging	Het
Nsmce2	A	G	15: 59,473,265 (GRCm39)	I235V	probably damaging	Het
Nyap2	T	C	1: 81,314,230 (GRCm39)	V642A	possibly damaging	Het
Or14n1-ps1	A	T	7: 86,092,328 (GRCm39)	L46F	unknown	Het
Or8g51	A	G	9: 38,609,161 (GRCm39)	V167A	probably benign	Het
Paqr7	A	G	4: 134,234,431 (GRCm39)	D96G	probably benign	Het
Parp4	A	G	14: 56,839,852 (GRCm39)	Y520C	probably damaging	Het
Pde5a	A	G	3: 122,542,107 (GRCm39)	N199S	probably damaging	Het
Piezo1	A	T	8: 123,212,463 (GRCm39)	Y1955N		Het
Pnma8a	A	G	7: 16,695,315 (GRCm39)	K390R	probably benign	Het
Prdm10	G	T	9: 31,227,537 (GRCm39)	Q47H	probably damaging	Het
Psg22	T	A	7: 18,453,499 (GRCm39)	F104I	probably benign	Het
Ptprf	T	C	4: 118,068,322 (GRCm39)	E1738G	probably damaging	Het
Rad21l	A	T	2: 151,500,365 (GRCm39)	L218Q	probably damaging	Het
Rad54l2	A	G	9: 106,583,024 (GRCm39)	I798T	probably damaging	Het
Rgs5	G	T	1: 169,483,149 (GRCm39)	M1I	probably null	Het
Rhbdl2	T	C	4: 123,711,659 (GRCm39)	V132A	possibly damaging	Het
Rmi1	T	A	13: 58,557,393 (GRCm39)	Y547*	probably null	Het
Rptn	A	T	3: 93,304,212 (GRCm39)	D515V	probably benign	Het
Rsph10b	A	G	5: 143,898,033 (GRCm39)	N505D	probably benign	Het
Samhd1	T	C	2: 156,948,164 (GRCm39)	D539G	probably damaging	Het
Scube3	A	T	17: 28,387,156 (GRCm39)	I885F	probably damaging	Het
Sfmbt1	A	G	14: 30,506,696 (GRCm39)	I247V	possibly damaging	Het
Slc25a21	T	C	12: 56,904,828 (GRCm39)	I62V	probably benign	Het
Slc4a11	T	A	2: 130,527,452 (GRCm39)	N648Y	probably damaging	Het
Slc7a11	A	G	3: 50,397,448 (GRCm39)	V88A	possibly damaging	Het
Slc7a8	A	C	14: 54,964,263 (GRCm39)	F397V	possibly damaging	Het
Sox12	A	C	2: 152,239,377 (GRCm39)	L81R	probably damaging	Het
Spg11	T	C	2: 121,915,474 (GRCm39)	I1057V	probably benign	Het
St8sia3	G	A	18: 64,402,987 (GRCm39)	V265I	probably benign	Het
Stxbp5	A	G	10: 9,684,874 (GRCm39)	S509P	possibly damaging	Het
Svep1	T	C	4: 58,108,323 (GRCm39)	Y1129C	probably damaging	Het
Tenm4	G	T	7: 96,523,333 (GRCm39)	R1625L	probably benign	Het
Tlr4	T	C	4: 66,758,191 (GRCm39)	F328S	possibly damaging	Het
Tmprss15	T	C	16: 78,868,164 (GRCm39)	T215A	probably benign	Het
Tmprss9	A	T	10: 80,718,504 (GRCm39)	I62L	probably benign	Het
Trpm5	C	T	7: 142,642,756 (GRCm39)	A64T	probably benign	Het
Txk	A	C	5: 72,889,109 (GRCm39)	Y148*	probably null	Het
Uba5	C	T	9: 103,932,454 (GRCm39)	G170R	possibly damaging	Het
Uggt2	A	T	14: 119,323,587 (GRCm39)	D231E	probably benign	Het
Ulk4	A	T	9: 121,077,993 (GRCm39)	D525E	probably benign	Het
Vmn1r158	T	A	7: 22,489,649 (GRCm39)	T187S	probably benign	Het
Vmn1r52	T	A	6: 90,156,605 (GRCm39)	M303K	probably benign	Het
Vmn2r54	A	G	7: 12,356,044 (GRCm39)	F454S	probably benign	Het
Zbp1	A	T	2: 173,060,546 (GRCm39)	L8*	probably null	Het
Zmym2	A	T	14: 57,181,557 (GRCm39)	D924V	probably benign	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
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
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'- GGAGCACACAATGTCAGCATC -3'
(R):5'- GGCTGCTTTTGACCAATTCC -3'

Sequencing Primer
(F):5'- TCTACTTATTTACAAACAAACAGGCC -3'
(R):5'- CATCATTGTGCGGCATGC -3'

Posted On

2019-09-13