Mutagenetix > Incidental Mutation

Incidental Mutation 'R1268:Ints2'

151218

Institutional Source

Beutler Lab

Gene Symbol

Ints2

Ensembl Gene

ENSMUSG00000018068

Gene Name

integrator complex subunit 2

Synonyms

2810417D08Rik

MMRRC Submission

039335-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1268 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86101507-86148401 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86123911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 626 (G626R)

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: G626R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000018212
Gene: ENSMUSG00000018068
AA Change: G626R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000108039
AA Change: G626R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103674
Gene: ENSMUSG00000018068
AA Change: G626R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127745

Predicted Effect

probably benign
Transcript: ENSMUST00000134828

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134883

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143819

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146421

Meta Mutation Damage Score

0.3327

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

100% (41/41)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	C	17: 14,108,248 (GRCm39)	V1257A	probably damaging	Het
Aplnr	A	G	2: 84,967,775 (GRCm39)	T267A	possibly damaging	Het
Arap2	A	G	5: 62,887,964 (GRCm39)	S461P	probably benign	Het
Brpf3	A	G	17: 29,055,530 (GRCm39)	T1160A	probably damaging	Het
Col5a1	A	T	2: 27,892,501 (GRCm39)	T1005S	unknown	Het
Crebrf	CTTTT	CTTT	17: 26,958,570 (GRCm39)		probably null	Het
Fmo6	A	T	1: 162,748,086 (GRCm39)	I326N	probably damaging	Het
Foxp4	G	C	17: 48,191,278 (GRCm39)		probably benign	Het
Gnat1	A	G	9: 107,553,076 (GRCm39)		probably benign	Het
Hs6st1	T	A	1: 36,108,007 (GRCm39)	V90D	probably damaging	Het
Igsf11	A	G	16: 38,845,216 (GRCm39)	T257A	probably benign	Het
Mab21l3	C	T	3: 101,742,363 (GRCm39)	E66K	possibly damaging	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Mybl2	A	G	2: 162,916,636 (GRCm39)	N429S	probably benign	Het
Mycbp2	G	A	14: 103,446,218 (GRCm39)	T1837I	probably damaging	Het
Myh7b	C	A	2: 155,455,966 (GRCm39)	S117*	probably null	Het
Nek1	C	A	8: 61,475,298 (GRCm39)	A202E	probably damaging	Het
Notum	C	T	11: 120,549,493 (GRCm39)	W159*	probably null	Het
Ntn1	TCCTCGGC	TC	11: 68,103,959 (GRCm39)		probably benign	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or2w2	C	T	13: 21,758,498 (GRCm39)	V43M	probably benign	Het
Or4c58	A	G	2: 89,674,498 (GRCm39)	I273T	probably damaging	Het
Or4f57	G	T	2: 111,791,222 (GRCm39)	N65K	possibly damaging	Het
Or5b99	T	C	19: 12,976,625 (GRCm39)	Y92H	possibly damaging	Het
Or5p69	A	T	7: 107,967,002 (GRCm39)	I102F	probably benign	Het
Or7g12	T	C	9: 18,899,652 (GRCm39)	F123L	probably damaging	Het
Plk4	T	A	3: 40,765,804 (GRCm39)	V659D	probably damaging	Het
Rbm27	T	C	18: 42,466,367 (GRCm39)	S866P	probably damaging	Het
Rnaseh2b	A	T	14: 62,609,904 (GRCm39)	K303N	possibly damaging	Het
Samd9l	C	T	6: 3,376,113 (GRCm39)	V383I	possibly damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Slc35f2	T	A	9: 53,705,197 (GRCm39)	Y62*	probably null	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Ulk1	A	G	5: 110,938,143 (GRCm39)	S610P	probably damaging	Het
Ulk4	C	A	9: 121,086,140 (GRCm39)		probably benign	Het
Vdr	T	C	15: 97,755,356 (GRCm39)	N389S	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
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
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'- CGTTGGACAGGTTGAAATATCCCACAG -3'
(R):5'- CAGCTATGTGAAACTTCCACTCCACTC -3'

Sequencing Primer
(F):5'- tgcgactacccaggctac -3'
(R):5'- ACTCCACCCTCAGCTCC -3'

Posted On

2014-01-29