Incidental Mutation 'R7922:Ints2'
ID |
648467 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ints2
|
Ensembl Gene |
ENSMUSG00000018068 |
Gene Name |
integrator complex subunit 2 |
Synonyms |
2810417D08Rik |
MMRRC Submission |
045969-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7922 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
86101507-86148401 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 86135453 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 320
(R320S)
|
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: R320S
PolyPhen 2
Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000018212 Gene: ENSMUSG00000018068 AA Change: R320S
Domain | Start | End | E-Value | Type |
Pfam:INTS2
|
24 |
1131 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108039
AA Change: R320S
PolyPhen 2
Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000103674 Gene: ENSMUSG00000018068 AA Change: R320S
Domain | Start | End | E-Value | Type |
Pfam:INTS2
|
24 |
1132 |
N/A |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
C |
T |
12: 71,211,180 (GRCm39) |
T638M |
possibly damaging |
Het |
4930546C10Rik |
A |
G |
18: 69,083,067 (GRCm39) |
|
probably null |
Het |
Abi3 |
A |
T |
11: 95,723,619 (GRCm39) |
Y342N |
unknown |
Het |
Adk |
G |
A |
14: 21,368,111 (GRCm39) |
V195I |
probably benign |
Het |
Ago2 |
C |
T |
15: 72,998,375 (GRCm39) |
V268M |
possibly damaging |
Het |
Apaf1 |
T |
C |
10: 90,835,615 (GRCm39) |
I1077V |
probably benign |
Het |
Arap1 |
A |
T |
7: 101,053,621 (GRCm39) |
K1317* |
probably null |
Het |
Auts2 |
T |
A |
5: 131,469,211 (GRCm39) |
D493V |
|
Het |
Baz1b |
A |
T |
5: 135,260,533 (GRCm39) |
Q1110L |
probably damaging |
Het |
Brsk2 |
T |
A |
7: 141,546,957 (GRCm39) |
S467T |
possibly damaging |
Het |
Btbd9 |
A |
T |
17: 30,493,858 (GRCm39) |
M511K |
probably benign |
Het |
Cdh23 |
T |
A |
10: 60,218,485 (GRCm39) |
Y1385F |
probably benign |
Het |
Cfap100 |
A |
C |
6: 90,380,962 (GRCm39) |
L427V |
unknown |
Het |
Cnga1 |
A |
G |
5: 72,762,225 (GRCm39) |
F430L |
possibly damaging |
Het |
Csnk2a1-ps3 |
A |
T |
1: 156,352,562 (GRCm39) |
L254F |
probably damaging |
Het |
Dnhd1 |
A |
T |
7: 105,317,721 (GRCm39) |
D472V |
probably damaging |
Het |
Dock2 |
T |
A |
11: 34,598,154 (GRCm39) |
E339V |
probably benign |
Het |
Eif3a |
A |
T |
19: 60,764,280 (GRCm39) |
V379E |
probably damaging |
Het |
Erich4 |
T |
A |
7: 25,315,168 (GRCm39) |
N36Y |
probably damaging |
Het |
Frem2 |
T |
C |
3: 53,560,725 (GRCm39) |
T1261A |
probably damaging |
Het |
Fzd6 |
A |
T |
15: 38,894,503 (GRCm39) |
D223V |
probably damaging |
Het |
Gabra2 |
A |
T |
5: 71,165,315 (GRCm39) |
Y218* |
probably null |
Het |
Gcn1 |
G |
T |
5: 115,752,527 (GRCm39) |
M2177I |
probably benign |
Het |
Ghr |
G |
A |
15: 3,370,556 (GRCm39) |
T103I |
possibly damaging |
Het |
Gipc1 |
T |
C |
8: 84,387,857 (GRCm39) |
V79A |
probably benign |
Het |
Gm13272 |
T |
A |
4: 88,698,577 (GRCm39) |
V164D |
probably damaging |
Het |
Gramd4 |
C |
A |
15: 86,016,159 (GRCm39) |
H503Q |
probably benign |
Het |
Gstm4 |
A |
T |
3: 107,951,987 (GRCm39) |
M1K |
probably null |
Het |
Heatr5b |
T |
A |
17: 79,067,988 (GRCm39) |
Q1800L |
probably benign |
Het |
Hectd1 |
T |
A |
12: 51,836,978 (GRCm39) |
K826* |
probably null |
Het |
Hoxa9 |
T |
C |
6: 52,201,289 (GRCm39) |
I251V |
possibly damaging |
Het |
Il2ra |
A |
T |
2: 11,679,177 (GRCm39) |
I46F |
possibly damaging |
Het |
Iscu |
A |
T |
5: 113,912,343 (GRCm39) |
N46I |
probably damaging |
Het |
Iscu |
G |
A |
5: 113,912,410 (GRCm39) |
R60Q |
unknown |
Het |
Kcnk3 |
A |
T |
5: 30,745,875 (GRCm39) |
H72L |
probably damaging |
Het |
Kmt2a |
T |
G |
9: 44,754,157 (GRCm39) |
S1228R |
unknown |
Het |
Mbl2 |
T |
A |
19: 30,216,638 (GRCm39) |
L150Q |
probably damaging |
Het |
Med13 |
A |
T |
11: 86,161,831 (GRCm39) |
F2166Y |
probably damaging |
Het |
Mterf4 |
A |
C |
1: 93,229,275 (GRCm39) |
L246* |
probably null |
Het |
Muc16 |
T |
C |
9: 18,496,121 (GRCm39) |
Q6690R |
probably benign |
Het |
Myh10 |
T |
A |
11: 68,699,719 (GRCm39) |
L1722Q |
possibly damaging |
Het |
Neurod2 |
T |
C |
11: 98,218,454 (GRCm39) |
M237V |
probably benign |
Het |
Olfml1 |
A |
G |
7: 107,170,356 (GRCm39) |
Y81C |
probably damaging |
Het |
Or4q3 |
A |
G |
14: 50,583,872 (GRCm39) |
V9A |
probably benign |
Het |
Pcdhga7 |
A |
T |
18: 37,849,226 (GRCm39) |
N411I |
probably benign |
Het |
Pcdhgb8 |
T |
C |
18: 37,897,002 (GRCm39) |
F691L |
probably benign |
Het |
Pik3c2a |
A |
G |
7: 115,990,517 (GRCm39) |
V481A |
probably damaging |
Het |
Pik3r6 |
A |
T |
11: 68,424,701 (GRCm39) |
R435S |
probably benign |
Het |
Pkd1l1 |
G |
A |
11: 8,799,013 (GRCm39) |
H2250Y |
|
Het |
Pkd1l1 |
A |
G |
11: 8,859,857 (GRCm39) |
S1034P |
|
Het |
Plcd1 |
C |
A |
9: 118,903,720 (GRCm39) |
R400L |
possibly damaging |
Het |
Ppp2r1a |
A |
G |
17: 21,174,879 (GRCm39) |
T58A |
probably benign |
Het |
Ppp5c |
T |
C |
7: 16,761,725 (GRCm39) |
E5G |
possibly damaging |
Het |
Pradc1 |
A |
C |
6: 85,424,950 (GRCm39) |
F82L |
probably benign |
Het |
Prkag3 |
A |
T |
1: 74,780,416 (GRCm39) |
S416R |
probably benign |
Het |
Rab3gap2 |
T |
C |
1: 184,982,117 (GRCm39) |
C390R |
probably benign |
Het |
Rhot1 |
A |
G |
11: 80,156,629 (GRCm39) |
T655A |
probably benign |
Het |
Rorc |
A |
G |
3: 94,298,495 (GRCm39) |
I348V |
probably damaging |
Het |
Ryr1 |
A |
T |
7: 28,796,649 (GRCm39) |
V1051E |
probably benign |
Het |
Sema5b |
GCAC |
GC |
16: 35,478,626 (GRCm39) |
|
probably null |
Het |
Serpinb3c |
G |
A |
1: 107,199,744 (GRCm39) |
T259I |
probably damaging |
Het |
Sh3gl1 |
A |
T |
17: 56,326,438 (GRCm39) |
M70K |
probably damaging |
Het |
Sinhcaf |
T |
A |
6: 148,827,644 (GRCm39) |
T125S |
probably benign |
Het |
Slc7a4 |
C |
T |
16: 17,391,230 (GRCm39) |
V607I |
probably benign |
Het |
Spop |
A |
T |
11: 95,362,154 (GRCm39) |
N62Y |
probably damaging |
Het |
Spout1 |
A |
G |
2: 30,066,823 (GRCm39) |
F130S |
probably benign |
Het |
Tab1 |
A |
G |
15: 80,043,066 (GRCm39) |
H420R |
possibly damaging |
Het |
Tecpr2 |
CA |
C |
12: 110,899,076 (GRCm39) |
|
probably null |
Het |
Tnxb |
G |
C |
17: 34,933,577 (GRCm39) |
K2332N |
probably damaging |
Het |
Togaram1 |
T |
C |
12: 65,014,512 (GRCm39) |
Y588H |
probably damaging |
Het |
Trim71 |
G |
A |
9: 114,342,153 (GRCm39) |
R710C |
probably damaging |
Het |
Tsen54 |
C |
T |
11: 115,711,608 (GRCm39) |
Q342* |
probably null |
Het |
Ube2r2 |
T |
A |
4: 41,190,812 (GRCm39) |
N235K |
unknown |
Het |
Utrn |
C |
A |
10: 12,543,271 (GRCm39) |
K1792N |
possibly damaging |
Het |
Vmn1r122 |
A |
G |
7: 20,867,587 (GRCm39) |
I156T |
possibly damaging |
Het |
Vmn1r94 |
T |
C |
7: 19,901,636 (GRCm39) |
T223A |
possibly damaging |
Het |
Vmn2r120 |
G |
A |
17: 57,831,683 (GRCm39) |
R369W |
probably damaging |
Het |
Vwa7 |
G |
T |
17: 35,243,409 (GRCm39) |
A717S |
possibly damaging |
Het |
Zc3h4 |
T |
A |
7: 16,159,647 (GRCm39) |
C398S |
unknown |
Het |
Zc3hc1 |
T |
A |
6: 30,390,874 (GRCm39) |
E43V |
possibly damaging |
Het |
Zfp101 |
A |
T |
17: 33,600,511 (GRCm39) |
V415D |
possibly damaging |
Het |
Zfp553 |
A |
G |
7: 126,835,768 (GRCm39) |
H441R |
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 |
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 |
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'- ACAGACGTAAGAGTGCACTG -3'
(R):5'- GCCTTACCTCTGCAATCAGTG -3'
Sequencing Primer
(F):5'- AAGAGTGCACTGGCTTTCAC -3'
(R):5'- TCAGTGCAAACTGGGGTG -3'
|
Posted On |
2020-09-15 |