Incidental Mutation 'R8391:Qrich2'
| ID |
647393 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Qrich2
|
| Ensembl Gene |
ENSMUSG00000070331 |
| Gene Name |
glutamine rich 2 |
| Synonyms |
LOC217341 |
| MMRRC Submission |
067756-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R8391 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
116332151-116357067 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 116356403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 149
(V149L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000208602]
|
| AlphaFold |
Q3V2A7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208602
AA Change: V149L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
T |
C |
16: 20,368,968 (GRCm39) |
S155P |
possibly damaging |
Het |
| Akr1c21 |
C |
T |
13: 4,626,278 (GRCm39) |
R101W |
probably damaging |
Het |
| Angpt1 |
T |
A |
15: 42,375,794 (GRCm39) |
N154I |
probably damaging |
Het |
| Aoc1l2 |
T |
C |
6: 48,909,602 (GRCm39) |
W616R |
probably damaging |
Het |
| Atp2a1 |
T |
A |
7: 126,047,888 (GRCm39) |
I641F |
possibly damaging |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Bltp3b |
T |
C |
10: 89,645,605 (GRCm39) |
V1226A |
possibly damaging |
Het |
| Cacna1b |
G |
A |
2: 24,596,212 (GRCm39) |
A493V |
probably damaging |
Het |
| Cacna1h |
G |
A |
17: 25,596,204 (GRCm39) |
A1939V |
probably benign |
Het |
| Cacna2d4 |
A |
G |
6: 119,325,706 (GRCm39) |
I1027V |
probably benign |
Het |
| Cbln3 |
G |
A |
14: 56,120,523 (GRCm39) |
R170C |
probably damaging |
Het |
| Cemip |
T |
C |
7: 83,604,517 (GRCm39) |
S842G |
probably damaging |
Het |
| Cep164 |
T |
A |
9: 45,718,491 (GRCm39) |
Q284L |
unknown |
Het |
| Crybg2 |
T |
C |
4: 133,803,035 (GRCm39) |
F889L |
probably damaging |
Het |
| Fhip1a |
T |
C |
3: 85,595,788 (GRCm39) |
N366D |
probably damaging |
Het |
| Gars1 |
T |
A |
6: 55,025,127 (GRCm39) |
Y124N |
probably damaging |
Het |
| Gbp2b |
T |
C |
3: 142,309,894 (GRCm39) |
F228S |
probably damaging |
Het |
| Gm5565 |
C |
A |
5: 146,096,962 (GRCm39) |
R59L |
probably benign |
Het |
| Gm8947 |
A |
T |
1: 151,068,737 (GRCm39) |
D190V |
probably benign |
Het |
| Grid2ip |
T |
C |
5: 143,365,951 (GRCm39) |
M543T |
probably damaging |
Het |
| Gucy2c |
A |
G |
6: 136,681,213 (GRCm39) |
L957P |
probably damaging |
Het |
| Hint1 |
T |
C |
11: 54,757,368 (GRCm39) |
I18T |
possibly damaging |
Het |
| Il23r |
T |
C |
6: 67,429,374 (GRCm39) |
S323G |
probably benign |
Het |
| Iqcf3 |
T |
G |
9: 106,438,175 (GRCm39) |
E16A |
unknown |
Het |
| Kcnj1 |
A |
T |
9: 32,308,028 (GRCm39) |
T151S |
probably damaging |
Het |
| Kdm1a |
G |
T |
4: 136,281,154 (GRCm39) |
T685K |
probably benign |
Het |
| Lipo4 |
T |
A |
19: 33,488,965 (GRCm39) |
H206L |
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,654,185 (GRCm39) |
Y1081H |
probably damaging |
Het |
| Masp1 |
A |
T |
16: 23,289,128 (GRCm39) |
H557Q |
possibly damaging |
Het |
| Nhsl1 |
C |
T |
10: 18,400,691 (GRCm39) |
T605I |
possibly damaging |
Het |
| Or1af1 |
T |
A |
2: 37,110,277 (GRCm39) |
Y259N |
probably damaging |
Het |
| Or1j21 |
C |
T |
2: 36,684,096 (GRCm39) |
P283S |
probably damaging |
Het |
| Pkmyt1 |
C |
T |
17: 23,954,013 (GRCm39) |
R307C |
probably damaging |
Het |
| Plppr4 |
T |
C |
3: 117,129,060 (GRCm39) |
I136V |
probably benign |
Het |
| Ppp1r12c |
A |
C |
7: 4,500,431 (GRCm39) |
Y150D |
probably damaging |
Het |
| R3hdm1 |
T |
C |
1: 128,121,215 (GRCm39) |
F176L |
|
Het |
| Ric8a |
T |
A |
7: 140,437,916 (GRCm39) |
S52T |
probably benign |
Het |
| Romo1 |
G |
T |
2: 155,986,340 (GRCm39) |
|
probably benign |
Het |
| Rps6ka1 |
G |
A |
4: 133,591,346 (GRCm39) |
H318Y |
probably damaging |
Het |
| Slc43a3 |
A |
G |
2: 84,768,151 (GRCm39) |
N41S |
probably benign |
Het |
| Srrm4 |
T |
G |
5: 116,582,755 (GRCm39) |
T567P |
unknown |
Het |
| Srsf12 |
C |
G |
4: 33,226,070 (GRCm39) |
P111R |
probably damaging |
Het |
| St6galnac4 |
G |
T |
2: 32,484,086 (GRCm39) |
D95Y |
probably damaging |
Het |
| Sult2a6 |
T |
C |
7: 13,956,516 (GRCm39) |
|
probably null |
Het |
| Synj2 |
A |
G |
17: 5,991,796 (GRCm39) |
E24G |
probably damaging |
Het |
| Try10 |
T |
G |
6: 41,334,306 (GRCm39) |
L166R |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,562,544 (GRCm39) |
V28767A |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,604,822 (GRCm39) |
I18371F |
probably damaging |
Het |
| Zc3h13 |
T |
A |
14: 75,568,625 (GRCm39) |
L1306Q |
probably damaging |
Het |
| Zp2 |
T |
A |
7: 119,726,179 (GRCm39) |
T674S |
probably benign |
Het |
| Zscan4-ps3 |
A |
G |
7: 11,346,801 (GRCm39) |
Y279C |
probably benign |
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 |
|
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 |
|
R9620:Qrich2
|
UTSW |
11 |
116,337,946 (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'- AGACCTGGTACCCCTTGTATTG -3'
(R):5'- TCTACCTAGGCTGTCACAGAC -3'
Sequencing Primer
(F):5'- CTTAGGGCCTGAAGGGTAGC -3'
(R):5'- GGCTGTCACAGACTCCACAAGAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation