Incidental Mutation 'R9620:Qrich2'
ID |
724733 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Qrich2
|
Ensembl Gene |
ENSMUSG00000070331 |
Gene Name |
glutamine rich 2 |
Synonyms |
LOC217341 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R9620 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
116332151-116357067 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 116337946 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 154
(K154R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091437
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093909]
[ENSMUST00000208602]
|
AlphaFold |
Q3V2A7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093909
AA Change: K154R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000091437 Gene: ENSMUSG00000070331 AA Change: K154R
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
37 |
N/A |
INTRINSIC |
Pfam:DUF4795
|
97 |
304 |
3.7e-71 |
PFAM |
low complexity region
|
471 |
491 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208602
AA Change: K1899R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd3 |
G |
T |
18: 10,704,605 (GRCm39) |
T151K |
possibly damaging |
Het |
Acsf2 |
C |
T |
11: 94,463,412 (GRCm39) |
W130* |
probably null |
Het |
Aldh16a1 |
G |
A |
7: 44,797,413 (GRCm39) |
R132* |
probably null |
Het |
Amer3 |
C |
T |
1: 34,628,043 (GRCm39) |
P761S |
probably benign |
Het |
Amotl1 |
G |
T |
9: 14,459,969 (GRCm39) |
D886E |
probably damaging |
Het |
Cacna1s |
T |
C |
1: 136,035,909 (GRCm39) |
F1383S |
probably damaging |
Het |
Col14a1 |
T |
A |
15: 55,225,781 (GRCm39) |
V148E |
unknown |
Het |
Col9a2 |
T |
A |
4: 120,910,403 (GRCm39) |
|
probably null |
Het |
Cyp2a5 |
T |
A |
7: 26,536,636 (GRCm39) |
M205K |
possibly damaging |
Het |
Dcst2 |
A |
T |
3: 89,277,825 (GRCm39) |
Q466L |
possibly damaging |
Het |
Ecel1 |
T |
C |
1: 87,080,853 (GRCm39) |
I350V |
possibly damaging |
Het |
Enthd1 |
G |
A |
15: 80,336,901 (GRCm39) |
T511I |
probably benign |
Het |
Exoc6b |
T |
A |
6: 84,988,302 (GRCm39) |
K92* |
probably null |
Het |
Fam181a |
T |
G |
12: 103,282,591 (GRCm39) |
Y165* |
probably null |
Het |
Fbxo34 |
A |
G |
14: 47,768,725 (GRCm39) |
Y746C |
probably damaging |
Het |
Fgfr4 |
T |
A |
13: 55,308,994 (GRCm39) |
S372T |
possibly damaging |
Het |
Fmo1 |
A |
G |
1: 162,661,390 (GRCm39) |
F298L |
probably benign |
Het |
Gad1 |
A |
C |
2: 70,404,620 (GRCm39) |
D170A |
possibly damaging |
Het |
Garin2 |
A |
C |
12: 78,762,077 (GRCm39) |
D247A |
probably damaging |
Het |
Golgb1 |
T |
C |
16: 36,739,811 (GRCm39) |
S2758P |
probably benign |
Het |
Golm2 |
T |
C |
2: 121,737,242 (GRCm39) |
V261A |
probably benign |
Het |
H2az2 |
A |
T |
11: 6,379,094 (GRCm39) |
|
probably null |
Het |
Ilkap |
A |
G |
1: 91,303,973 (GRCm39) |
C163R |
|
Het |
Krt9 |
A |
T |
11: 100,079,186 (GRCm39) |
D735E |
unknown |
Het |
Lipo3 |
A |
T |
19: 33,559,629 (GRCm39) |
C80* |
probably null |
Het |
Lpcat3 |
C |
T |
6: 124,680,543 (GRCm39) |
P478L |
probably damaging |
Het |
Luc7l3 |
G |
A |
11: 94,212,545 (GRCm39) |
R24C |
unknown |
Het |
Mafa |
T |
A |
15: 75,619,161 (GRCm39) |
H204L |
probably benign |
Het |
Mapk10 |
A |
C |
5: 103,114,473 (GRCm39) |
V305G |
probably damaging |
Het |
Mgat1 |
T |
C |
11: 49,152,122 (GRCm39) |
F202L |
probably benign |
Het |
Mical2 |
A |
T |
7: 111,980,403 (GRCm39) |
T126S |
probably benign |
Het |
Mill1 |
G |
A |
7: 17,997,027 (GRCm39) |
R206H |
probably benign |
Het |
Nlrc5 |
A |
T |
8: 95,203,034 (GRCm39) |
Y378F |
probably benign |
Het |
Nlrp9a |
G |
T |
7: 26,250,469 (GRCm39) |
R78L |
probably damaging |
Het |
Or10b1 |
G |
T |
10: 78,356,128 (GRCm39) |
A229S |
probably benign |
Het |
Or52i2 |
A |
T |
7: 102,320,011 (GRCm39) |
I295F |
possibly damaging |
Het |
Or8g50 |
A |
T |
9: 39,648,287 (GRCm39) |
M59L |
|
Het |
Orc6 |
A |
T |
8: 86,026,430 (GRCm39) |
|
probably benign |
Het |
Pate14 |
A |
G |
9: 36,548,498 (GRCm39) |
|
probably null |
Het |
Pcdhgb5 |
C |
T |
18: 37,864,486 (GRCm39) |
Q94* |
probably null |
Het |
Pcnx1 |
A |
G |
12: 81,996,960 (GRCm39) |
D952G |
probably damaging |
Het |
Ppfia2 |
A |
T |
10: 106,749,519 (GRCm39) |
H1135L |
|
Het |
Prmt2 |
A |
T |
10: 76,061,213 (GRCm39) |
I91N |
probably damaging |
Het |
Ptprm |
A |
G |
17: 67,116,484 (GRCm39) |
Y932H |
probably damaging |
Het |
Rapgef4 |
A |
G |
2: 72,036,051 (GRCm39) |
T515A |
probably benign |
Het |
Rgmb |
G |
A |
17: 16,041,279 (GRCm39) |
R103* |
probably null |
Het |
Ripk1 |
T |
G |
13: 34,210,806 (GRCm39) |
S334A |
possibly damaging |
Het |
Rnf5 |
C |
T |
17: 34,820,721 (GRCm39) |
G147S |
possibly damaging |
Het |
Ryr1 |
T |
C |
7: 28,715,138 (GRCm39) |
Y4662C |
unknown |
Het |
Secisbp2l |
A |
G |
2: 125,589,394 (GRCm39) |
M718T |
probably damaging |
Het |
Slc16a6 |
T |
C |
11: 109,354,322 (GRCm39) |
T100A |
probably benign |
Het |
Slc27a6 |
T |
A |
18: 58,742,887 (GRCm39) |
M525K |
probably damaging |
Het |
Slco2a1 |
G |
C |
9: 102,962,065 (GRCm39) |
C579S |
probably damaging |
Het |
Snx14 |
A |
G |
9: 88,263,794 (GRCm39) |
S864P |
probably damaging |
Het |
Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
Sptbn2 |
T |
C |
19: 4,800,535 (GRCm39) |
L2250P |
probably damaging |
Het |
Tlr6 |
A |
T |
5: 65,112,146 (GRCm39) |
S254T |
possibly damaging |
Het |
Trap1 |
A |
T |
16: 3,858,083 (GRCm39) |
Y675* |
probably null |
Het |
Ttc9b |
C |
A |
7: 27,353,512 (GRCm39) |
A54E |
probably damaging |
Het |
Unc45a |
A |
C |
7: 79,975,403 (GRCm39) |
Y934D |
probably damaging |
Het |
Usp17ld |
A |
G |
7: 102,900,179 (GRCm39) |
L251P |
possibly damaging |
Het |
Usp42 |
A |
G |
5: 143,703,154 (GRCm39) |
V489A |
probably damaging |
Het |
Vars1 |
A |
G |
17: 35,235,001 (GRCm39) |
T1277A |
unknown |
Het |
Vmn2r117 |
A |
G |
17: 23,697,450 (GRCm39) |
S81P |
probably damaging |
Het |
Vmn2r69 |
T |
A |
7: 85,061,504 (GRCm39) |
I157F |
probably benign |
Het |
Zfp697 |
A |
G |
3: 98,335,182 (GRCm39) |
S316G |
probably damaging |
Het |
Zfp729b |
T |
A |
13: 67,739,787 (GRCm39) |
H826L |
probably damaging |
Het |
|
Other mutations in Qrich2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
FR4449:Qrich2
|
UTSW |
11 |
116,347,025 (GRCm39) |
small deletion |
probably benign |
|
R0122:Qrich2
|
UTSW |
11 |
116,337,639 (GRCm39) |
missense |
possibly damaging |
0.61 |
R0157:Qrich2
|
UTSW |
11 |
116,332,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R1479:Qrich2
|
UTSW |
11 |
116,332,311 (GRCm39) |
missense |
probably benign |
0.08 |
R1786:Qrich2
|
UTSW |
11 |
116,332,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R2115:Qrich2
|
UTSW |
11 |
116,337,982 (GRCm39) |
missense |
probably damaging |
0.99 |
R2130:Qrich2
|
UTSW |
11 |
116,339,243 (GRCm39) |
splice site |
probably benign |
|
R2178:Qrich2
|
UTSW |
11 |
116,334,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R3875:Qrich2
|
UTSW |
11 |
116,336,477 (GRCm39) |
missense |
probably damaging |
0.98 |
R4378:Qrich2
|
UTSW |
11 |
116,337,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R5124:Qrich2
|
UTSW |
11 |
116,337,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R5362:Qrich2
|
UTSW |
11 |
116,337,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R5468:Qrich2
|
UTSW |
11 |
116,339,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R5493:Qrich2
|
UTSW |
11 |
116,336,774 (GRCm39) |
critical splice donor site |
probably null |
|
R5589:Qrich2
|
UTSW |
11 |
116,332,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R5696:Qrich2
|
UTSW |
11 |
116,335,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R6046:Qrich2
|
UTSW |
11 |
116,337,832 (GRCm39) |
intron |
probably benign |
|
R6183:Qrich2
|
UTSW |
11 |
116,348,955 (GRCm39) |
unclassified |
probably benign |
|
R6193:Qrich2
|
UTSW |
11 |
116,344,979 (GRCm39) |
missense |
probably benign |
0.07 |
R6211:Qrich2
|
UTSW |
11 |
116,344,368 (GRCm39) |
missense |
probably benign |
0.41 |
R6375:Qrich2
|
UTSW |
11 |
116,349,054 (GRCm39) |
unclassified |
probably benign |
|
R6452:Qrich2
|
UTSW |
11 |
116,346,714 (GRCm39) |
missense |
probably benign |
0.01 |
R6870:Qrich2
|
UTSW |
11 |
116,346,156 (GRCm39) |
missense |
probably damaging |
0.96 |
R7073:Qrich2
|
UTSW |
11 |
116,337,701 (GRCm39) |
missense |
probably damaging |
0.98 |
R7552:Qrich2
|
UTSW |
11 |
116,347,080 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7585:Qrich2
|
UTSW |
11 |
116,346,547 (GRCm39) |
missense |
probably benign |
0.00 |
R7586:Qrich2
|
UTSW |
11 |
116,346,450 (GRCm39) |
missense |
probably benign |
0.43 |
R7588:Qrich2
|
UTSW |
11 |
116,356,763 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7633:Qrich2
|
UTSW |
11 |
116,347,455 (GRCm39) |
missense |
unknown |
|
R7638:Qrich2
|
UTSW |
11 |
116,346,148 (GRCm39) |
missense |
probably benign |
0.00 |
R7736:Qrich2
|
UTSW |
11 |
116,348,367 (GRCm39) |
small deletion |
probably benign |
|
R7737:Qrich2
|
UTSW |
11 |
116,348,367 (GRCm39) |
small deletion |
probably benign |
|
R7753:Qrich2
|
UTSW |
11 |
116,347,868 (GRCm39) |
small deletion |
probably benign |
|
R7800:Qrich2
|
UTSW |
11 |
116,347,686 (GRCm39) |
nonsense |
probably null |
|
R7833:Qrich2
|
UTSW |
11 |
116,346,591 (GRCm39) |
missense |
probably benign |
0.04 |
R7912:Qrich2
|
UTSW |
11 |
116,346,608 (GRCm39) |
small deletion |
probably benign |
|
R7923:Qrich2
|
UTSW |
11 |
116,348,163 (GRCm39) |
missense |
probably damaging |
1.00 |
R8197:Qrich2
|
UTSW |
11 |
116,347,861 (GRCm39) |
small deletion |
probably benign |
|
R8225:Qrich2
|
UTSW |
11 |
116,344,894 (GRCm39) |
missense |
probably damaging |
1.00 |
R8300:Qrich2
|
UTSW |
11 |
116,347,175 (GRCm39) |
missense |
probably benign |
0.04 |
R8391:Qrich2
|
UTSW |
11 |
116,356,403 (GRCm39) |
missense |
probably benign |
0.00 |
R8705:Qrich2
|
UTSW |
11 |
116,348,367 (GRCm39) |
small deletion |
probably benign |
|
R8792:Qrich2
|
UTSW |
11 |
116,347,456 (GRCm39) |
missense |
unknown |
|
R8912:Qrich2
|
UTSW |
11 |
116,348,367 (GRCm39) |
small deletion |
probably benign |
|
R9025:Qrich2
|
UTSW |
11 |
116,348,367 (GRCm39) |
small deletion |
probably benign |
|
R9121:Qrich2
|
UTSW |
11 |
116,347,272 (GRCm39) |
missense |
unknown |
|
R9130:Qrich2
|
UTSW |
11 |
116,347,692 (GRCm39) |
nonsense |
probably null |
|
R9219:Qrich2
|
UTSW |
11 |
116,335,900 (GRCm39) |
missense |
possibly damaging |
0.47 |
R9254:Qrich2
|
UTSW |
11 |
116,348,934 (GRCm39) |
missense |
unknown |
|
R9256:Qrich2
|
UTSW |
11 |
116,356,450 (GRCm39) |
missense |
probably benign |
0.10 |
R9288:Qrich2
|
UTSW |
11 |
116,348,367 (GRCm39) |
small deletion |
probably benign |
|
R9379:Qrich2
|
UTSW |
11 |
116,348,934 (GRCm39) |
missense |
unknown |
|
R9448:Qrich2
|
UTSW |
11 |
116,338,091 (GRCm39) |
missense |
probably benign |
0.01 |
R9521:Qrich2
|
UTSW |
11 |
116,339,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R9631:Qrich2
|
UTSW |
11 |
116,348,367 (GRCm39) |
small deletion |
probably benign |
|
R9639:Qrich2
|
UTSW |
11 |
116,346,924 (GRCm39) |
missense |
probably benign |
0.00 |
R9694:Qrich2
|
UTSW |
11 |
116,337,946 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Qrich2
|
UTSW |
11 |
116,347,204 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Qrich2
|
UTSW |
11 |
116,347,494 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTGTGAGAGACCAGCATGG -3'
(R):5'- TGAGAAGCTCAACATTACCACG -3'
Sequencing Primer
(F):5'- CAGCATGGGGTGGGGATG -3'
(R):5'- TCATTGAGGACCATCGGCAG -3'
|
Posted On |
2022-09-12 |