Incidental Mutation 'R4634:Gprin1'
| ID |
381214 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gprin1
|
| Ensembl Gene |
ENSMUSG00000069227 |
| Gene Name |
G protein-regulated inducer of neurite outgrowth 1 |
| Synonyms |
Z16, GRIN1 |
| MMRRC Submission |
042009-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4634 (G1)
|
| Quality Score |
58 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
54884484-54897486 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 54885871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 801
(P801Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037145]
[ENSMUST00000099506]
[ENSMUST00000135343]
|
| AlphaFold |
Q3UNH4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037145
|
| SMART Domains |
Protein: ENSMUSP00000043596
Gene: ENSMUSG00000034918
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
CA
|
48 |
122 |
8.62e-15 |
SMART |
|
CA
|
146 |
239 |
1.4e-2 |
SMART |
|
CA
|
263 |
351 |
2.19e-16 |
SMART |
|
CA
|
391 |
478 |
4.22e-9 |
SMART |
|
CA
|
503 |
584 |
2.15e-24 |
SMART |
|
CA
|
605 |
693 |
6.78e-22 |
SMART |
|
CA
|
715 |
805 |
1.78e-16 |
SMART |
|
CA
|
830 |
925 |
7.57e-11 |
SMART |
|
CA
|
950 |
1042 |
7.1e-2 |
SMART |
|
low complexity region
|
1121 |
1147 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1153 |
1175 |
N/A |
INTRINSIC |
|
low complexity region
|
1195 |
1209 |
N/A |
INTRINSIC |
|
low complexity region
|
1234 |
1250 |
N/A |
INTRINSIC |
|
low complexity region
|
1264 |
1277 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099506
AA Change: P801Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097106
Gene: ENSMUSG00000069227
AA Change: P801Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
43 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
80 |
256 |
2.14e-7 |
PROSPERO |
|
internal_repeat_2
|
95 |
267 |
4.89e-7 |
PROSPERO |
|
low complexity region
|
314 |
324 |
N/A |
INTRINSIC |
|
low complexity region
|
424 |
443 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
448 |
620 |
4.89e-7 |
PROSPERO |
|
internal_repeat_1
|
457 |
643 |
2.14e-7 |
PROSPERO |
|
low complexity region
|
684 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
758 |
773 |
N/A |
INTRINSIC |
|
Pfam:GRIN_C
|
790 |
929 |
4.2e-44 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135343
AA Change: P801Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115539
Gene: ENSMUSG00000069227
AA Change: P801Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
43 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
80 |
256 |
2.14e-7 |
PROSPERO |
|
internal_repeat_2
|
95 |
267 |
4.89e-7 |
PROSPERO |
|
low complexity region
|
314 |
324 |
N/A |
INTRINSIC |
|
low complexity region
|
424 |
443 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
448 |
620 |
4.89e-7 |
PROSPERO |
|
internal_repeat_1
|
457 |
643 |
2.14e-7 |
PROSPERO |
|
low complexity region
|
684 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
758 |
773 |
N/A |
INTRINSIC |
|
Pfam:GRIN_C
|
787 |
932 |
2.6e-49 |
PFAM |
|
| Meta Mutation Damage Score |
0.0709 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
A |
G |
15: 74,456,278 (GRCm39) |
|
probably benign |
Het |
| Atm |
T |
C |
9: 53,443,033 (GRCm39) |
T77A |
probably benign |
Het |
| Brd8 |
T |
C |
18: 34,741,537 (GRCm39) |
M311V |
possibly damaging |
Het |
| Cand2 |
T |
A |
6: 115,774,948 (GRCm39) |
I1052N |
probably damaging |
Het |
| Ccdc121 |
G |
A |
5: 31,645,435 (GRCm39) |
R396Q |
probably benign |
Het |
| Ceacam16 |
T |
A |
7: 19,592,531 (GRCm39) |
M126L |
probably benign |
Het |
| Chd3 |
TGCTGCCGCTGCCGC |
TGCTGCCGCTGCCGCTGCCGC |
11: 69,253,013 (GRCm39) |
|
probably benign |
Het |
| Cln8 |
C |
T |
8: 14,944,842 (GRCm39) |
T52I |
probably damaging |
Het |
| Cops2 |
C |
A |
2: 125,682,400 (GRCm39) |
D194Y |
probably damaging |
Het |
| Csf1 |
C |
T |
3: 107,656,483 (GRCm39) |
V71M |
probably damaging |
Het |
| Dip2b |
T |
C |
15: 100,058,372 (GRCm39) |
F183S |
probably damaging |
Het |
| Ears2 |
T |
A |
7: 121,643,832 (GRCm39) |
K375N |
probably benign |
Het |
| Fbn1 |
C |
A |
2: 125,185,981 (GRCm39) |
G1596C |
probably damaging |
Het |
| Fscn2 |
A |
T |
11: 120,258,546 (GRCm39) |
D390V |
possibly damaging |
Het |
| Gm42669 |
A |
T |
5: 107,656,079 (GRCm39) |
I781F |
possibly damaging |
Het |
| Hira |
C |
A |
16: 18,765,150 (GRCm39) |
S609R |
probably damaging |
Het |
| Htt |
G |
T |
5: 35,033,292 (GRCm39) |
K1853N |
probably benign |
Het |
| Kif2c |
T |
C |
4: 117,035,437 (GRCm39) |
I4V |
probably benign |
Het |
| Marveld2 |
A |
G |
13: 100,748,447 (GRCm39) |
Y211H |
probably damaging |
Het |
| Myd88 |
G |
A |
9: 119,167,175 (GRCm39) |
|
probably null |
Het |
| Nup153 |
A |
T |
13: 46,840,706 (GRCm39) |
N967K |
possibly damaging |
Het |
| Or4a76 |
A |
C |
2: 89,460,516 (GRCm39) |
I242S |
possibly damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Rabepk |
A |
G |
2: 34,670,752 (GRCm39) |
M228T |
probably damaging |
Het |
| Rcn3 |
T |
A |
7: 44,738,092 (GRCm39) |
D92V |
probably damaging |
Het |
| Sec1 |
T |
A |
7: 45,328,297 (GRCm39) |
Y250F |
probably damaging |
Het |
| Slc39a4 |
T |
C |
15: 76,498,693 (GRCm39) |
T334A |
probably benign |
Het |
| Trip11 |
G |
T |
12: 101,803,875 (GRCm39) |
T1669K |
probably damaging |
Het |
| Ttbk2 |
A |
G |
2: 120,570,673 (GRCm39) |
L1091P |
probably damaging |
Het |
| Vmn1r231 |
A |
G |
17: 21,110,660 (GRCm39) |
V85A |
possibly damaging |
Het |
| Zfp280b |
T |
C |
10: 75,874,663 (GRCm39) |
C181R |
probably benign |
Het |
|
| Other mutations in Gprin1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01021:Gprin1
|
APN |
13 |
54,888,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02001:Gprin1
|
APN |
13 |
54,887,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03188:Gprin1
|
APN |
13 |
54,886,465 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03308:Gprin1
|
APN |
13 |
54,887,957 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0980:Gprin1
|
UTSW |
13 |
54,888,214 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1638:Gprin1
|
UTSW |
13 |
54,887,689 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1942:Gprin1
|
UTSW |
13 |
54,887,752 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2145:Gprin1
|
UTSW |
13 |
54,886,445 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2215:Gprin1
|
UTSW |
13 |
54,888,046 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2338:Gprin1
|
UTSW |
13 |
54,886,238 (GRCm39) |
splice site |
probably null |
|
|
R3014:Gprin1
|
UTSW |
13 |
54,886,288 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4732:Gprin1
|
UTSW |
13 |
54,887,770 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4733:Gprin1
|
UTSW |
13 |
54,887,770 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4903:Gprin1
|
UTSW |
13 |
54,885,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Gprin1
|
UTSW |
13 |
54,885,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5102:Gprin1
|
UTSW |
13 |
54,887,576 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5979:Gprin1
|
UTSW |
13 |
54,887,791 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6544:Gprin1
|
UTSW |
13 |
54,888,124 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7007:Gprin1
|
UTSW |
13 |
54,886,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7022:Gprin1
|
UTSW |
13 |
54,886,855 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7110:Gprin1
|
UTSW |
13 |
54,887,056 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7385:Gprin1
|
UTSW |
13 |
54,886,423 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7916:Gprin1
|
UTSW |
13 |
54,887,263 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8696:Gprin1
|
UTSW |
13 |
54,885,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9151:Gprin1
|
UTSW |
13 |
54,886,778 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9178:Gprin1
|
UTSW |
13 |
54,885,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9285:Gprin1
|
UTSW |
13 |
54,886,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9398:Gprin1
|
UTSW |
13 |
54,887,383 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9711:Gprin1
|
UTSW |
13 |
54,886,714 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Gprin1
|
UTSW |
13 |
54,888,210 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAATGCTTCTGGATGGCCATG -3'
(R):5'- TCGCGACAACTTCACCAAGG -3'
Sequencing Primer
(F):5'- GCCATGCCCAGCACCTC -3'
(R):5'- TTCACCAAGGCGCCGTC -3'
|
| Posted On |
2016-04-19 |
Incidental Mutation