Mutagenetix > Incidental Mutation

Incidental Mutation 'R6764:Ints2'

531829

Institutional Source

Beutler Lab

Gene Symbol

Ints2

Ensembl Gene

ENSMUSG00000018068

Gene Name

integrator complex subunit 2

Synonyms

2810417D08Rik

MMRRC Submission

044880-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6764 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86101507-86148401 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86103605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 1150 (K1150N)

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: K1150N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000018212
Gene: ENSMUSG00000018068
AA Change: K1150N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000108039
AA Change: K1150N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103674
Gene: ENSMUSG00000018068
AA Change: K1150N

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

Meta Mutation Damage Score

0.0594

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	G	T	11: 53,290,657 (GRCm39)	R539L	probably damaging	Het
Aox1	T	A	1: 58,389,441 (GRCm39)	Y1147N	probably damaging	Het
Arhgef25	A	G	10: 127,019,970 (GRCm39)	F423L	probably damaging	Het
Atp1a2	A	T	1: 172,112,181 (GRCm39)	D571E	probably benign	Het
Bank1	A	G	3: 135,948,701 (GRCm39)	S159P	probably damaging	Het
Bcan	C	A	3: 87,895,685 (GRCm39)	R817L	probably damaging	Het
Cacna1g	A	G	11: 94,304,014 (GRCm39)	S1990P	possibly damaging	Het
Ccna1	G	A	3: 54,953,499 (GRCm39)	T368M	probably damaging	Het
Chia1	T	C	3: 106,038,056 (GRCm39)		probably null	Het
Ctbp1	T	C	5: 33,416,589 (GRCm39)	H136R	possibly damaging	Het
Dner	T	G	1: 84,472,502 (GRCm39)	D366A	probably damaging	Het
Eif3d	A	T	15: 77,845,886 (GRCm39)	D378E	probably damaging	Het
Evpl	A	G	11: 116,113,770 (GRCm39)	S1307P	probably damaging	Het
Fgd5	T	A	6: 91,966,402 (GRCm39)	N720K	probably damaging	Het
Fmn1	A	G	2: 113,355,560 (GRCm39)	E667G	unknown	Het
Gm4846	A	G	1: 166,319,121 (GRCm39)	C206R	probably benign	Het
Grpel1	G	A	5: 36,622,569 (GRCm39)	R11H	probably benign	Het
Gsn	A	G	2: 35,174,056 (GRCm39)	Y55C	probably damaging	Het
Hephl1	G	A	9: 15,000,217 (GRCm39)	T345I	possibly damaging	Het
Itga4	C	A	2: 79,155,958 (GRCm39)	H975N	probably benign	Het
Musk	T	C	4: 58,354,027 (GRCm39)	V360A	probably damaging	Het
Naalad2	A	T	9: 18,314,185 (GRCm39)		probably benign	Het
Ninj2	G	T	6: 120,175,011 (GRCm39)	A51S	probably benign	Het
Nscme3l	A	G	19: 5,552,900 (GRCm39)	S294P	probably damaging	Het
Pcdhac1	T	C	18: 37,223,732 (GRCm39)	Y182H	probably damaging	Het
Pitpnm3	A	G	11: 71,942,059 (GRCm39)	F916S	probably damaging	Het
Sfrp5	T	A	19: 42,188,238 (GRCm39)	M194L	probably benign	Het
Sigirr	C	T	7: 140,673,155 (GRCm39)	V99I	probably benign	Het
Smco2	A	G	6: 146,772,827 (GRCm39)	D343G	probably damaging	Het
Snap91	A	G	9: 86,674,234 (GRCm39)	I584T	probably benign	Het
Syne1	G	A	10: 5,179,011 (GRCm39)	Q4488*	probably null	Het
Tbc1d24	A	C	17: 24,404,754 (GRCm39)	F130C	possibly damaging	Het
Trpm7	A	G	2: 126,686,340 (GRCm39)	V296A	possibly damaging	Het
Ttll11	T	C	2: 35,780,460 (GRCm39)		probably null	Het
Vmn2r115	A	G	17: 23,565,046 (GRCm39)	D311G	probably damaging	Het
Vmn2r63	A	G	7: 42,552,695 (GRCm39)	S854P	probably damaging	Het
Zfp330	C	T	8: 83,493,934 (GRCm39)	C109Y	probably damaging	Het
Zfp534	C	T	4: 147,759,175 (GRCm39)	G498D	probably benign	Het
Zfp62	A	G	11: 49,105,996 (GRCm39)	D29G	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
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
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'- TCCAGATTCAGTATAGCAAGTGG -3'
(R):5'- GTCGAGCATTTCCTCCACTG -3'

Sequencing Primer
(F):5'- GCAAGTGGCTGCACTTAAAAC -3'
(R):5'- GAGCATTTCCTCCACTGTATGAGG -3'

Posted On

2018-08-29