Incidental Mutation 'R3924:Brinp2'
| ID |
307071 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brinp2
|
| Ensembl Gene |
ENSMUSG00000004031 |
| Gene Name |
bone morphogenic protein/retinoic acid inducible neural-specific 2 |
| Synonyms |
6430517E21Rik, Fam5b |
| MMRRC Submission |
040915-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.237)
|
| Stock # |
R3924 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
158072839-158183896 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 158073778 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 781
(L781P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004133]
[ENSMUST00000195271]
|
| AlphaFold |
Q6DFY8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004133
AA Change: L781P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000004133
Gene: ENSMUSG00000004031
AA Change: L781P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
MACPF
|
89 |
281 |
6.58e-50 |
SMART |
|
Blast:MACPF
|
338 |
362 |
1e-5 |
BLAST |
|
EGF
|
457 |
492 |
6.92e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195271
|
| SMART Domains |
Protein: ENSMUSP00000141709
Gene: ENSMUSG00000004031
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:MACPF
|
63 |
160 |
2.1e-6 |
PFAM |
|
| Meta Mutation Damage Score |
0.5849 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (39/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
G |
T |
9: 53,343,705 (GRCm39) |
V119F |
probably benign |
Het |
| Agtpbp1 |
A |
T |
13: 59,648,221 (GRCm39) |
V533D |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,983,692 (GRCm39) |
D1659N |
probably benign |
Het |
| Aldh3b3 |
A |
G |
19: 4,018,491 (GRCm39) |
N402S |
probably damaging |
Het |
| Amn |
T |
C |
12: 111,242,114 (GRCm39) |
V367A |
possibly damaging |
Het |
| Arpin |
A |
G |
7: 79,579,435 (GRCm39) |
Y63H |
probably benign |
Het |
| Cdkl1 |
G |
T |
12: 69,803,373 (GRCm39) |
R168S |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,785,555 (GRCm39) |
K445R |
probably benign |
Het |
| Csad |
T |
C |
15: 102,086,991 (GRCm39) |
S427G |
probably benign |
Het |
| Dach1 |
A |
G |
14: 98,153,339 (GRCm39) |
V443A |
probably damaging |
Het |
| Dlat |
A |
G |
9: 50,569,490 (GRCm39) |
S160P |
possibly damaging |
Het |
| Dpf1 |
A |
G |
7: 29,011,098 (GRCm39) |
R165G |
possibly damaging |
Het |
| Dtd2 |
G |
C |
12: 52,051,734 (GRCm39) |
|
probably null |
Het |
| Fa2h |
A |
G |
8: 112,120,147 (GRCm39) |
Y80H |
probably damaging |
Het |
| Flii |
A |
G |
11: 60,610,902 (GRCm39) |
F509S |
probably damaging |
Het |
| Fmo9 |
A |
G |
1: 166,492,221 (GRCm39) |
S350P |
probably benign |
Het |
| Gabra4 |
A |
G |
5: 71,799,596 (GRCm39) |
|
probably benign |
Het |
| Gm3604 |
A |
G |
13: 62,518,044 (GRCm39) |
S105P |
probably damaging |
Het |
| Gpr155 |
T |
A |
2: 73,200,420 (GRCm39) |
L362F |
probably damaging |
Het |
| Lmbrd2 |
T |
C |
15: 9,149,624 (GRCm39) |
V86A |
probably benign |
Het |
| Lpcat4 |
G |
T |
2: 112,077,061 (GRCm39) |
Q468H |
possibly damaging |
Het |
| Luzp1 |
T |
C |
4: 136,270,168 (GRCm39) |
I797T |
probably damaging |
Het |
| Myh8 |
A |
T |
11: 67,187,963 (GRCm39) |
I912F |
probably damaging |
Het |
| Notch2 |
G |
T |
3: 98,029,350 (GRCm39) |
G1038* |
probably null |
Het |
| Nptx1 |
G |
T |
11: 119,438,333 (GRCm39) |
T28N |
possibly damaging |
Het |
| Onecut2 |
A |
G |
18: 64,474,591 (GRCm39) |
K381E |
probably damaging |
Het |
| Or9i2 |
T |
C |
19: 13,816,130 (GRCm39) |
T136A |
probably damaging |
Het |
| Plekha5 |
A |
G |
6: 140,516,105 (GRCm39) |
N317S |
possibly damaging |
Het |
| Polr1a |
A |
G |
6: 71,906,434 (GRCm39) |
M417V |
probably benign |
Het |
| Ptpn13 |
T |
C |
5: 103,698,607 (GRCm39) |
|
probably benign |
Het |
| Qrfpr |
T |
C |
3: 36,276,072 (GRCm39) |
N106S |
possibly damaging |
Het |
| Rasd2 |
A |
G |
8: 75,948,602 (GRCm39) |
N176S |
probably damaging |
Het |
| Rsbn1l |
A |
G |
5: 21,124,785 (GRCm39) |
V339A |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,859,048 (GRCm39) |
|
probably benign |
Het |
| Shkbp1 |
A |
G |
7: 27,041,827 (GRCm39) |
W676R |
probably benign |
Het |
| Sipa1 |
G |
A |
19: 5,710,407 (GRCm39) |
T201I |
probably benign |
Het |
| Slc35g2 |
A |
T |
9: 100,434,780 (GRCm39) |
I297N |
probably benign |
Het |
| Usp28 |
T |
C |
9: 48,942,223 (GRCm39) |
|
probably null |
Het |
| Zfp946 |
G |
T |
17: 22,674,682 (GRCm39) |
G479C |
probably benign |
Het |
|
| Other mutations in Brinp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00327:Brinp2
|
APN |
1 |
158,074,670 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01537:Brinp2
|
APN |
1 |
158,074,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02354:Brinp2
|
APN |
1 |
158,074,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02361:Brinp2
|
APN |
1 |
158,074,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
slowdancing
|
UTSW |
1 |
158,094,030 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0334:Brinp2
|
UTSW |
1 |
158,123,155 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0652:Brinp2
|
UTSW |
1 |
158,074,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1017:Brinp2
|
UTSW |
1 |
158,077,021 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1141:Brinp2
|
UTSW |
1 |
158,074,840 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1378:Brinp2
|
UTSW |
1 |
158,074,624 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1666:Brinp2
|
UTSW |
1 |
158,074,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1892:Brinp2
|
UTSW |
1 |
158,082,542 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1986:Brinp2
|
UTSW |
1 |
158,074,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3876:Brinp2
|
UTSW |
1 |
158,074,416 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4582:Brinp2
|
UTSW |
1 |
158,095,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5239:Brinp2
|
UTSW |
1 |
158,078,908 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5537:Brinp2
|
UTSW |
1 |
158,082,583 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5582:Brinp2
|
UTSW |
1 |
158,076,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5762:Brinp2
|
UTSW |
1 |
158,074,156 (GRCm39) |
missense |
probably benign |
|
|
R5922:Brinp2
|
UTSW |
1 |
158,076,925 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6746:Brinp2
|
UTSW |
1 |
158,094,160 (GRCm39) |
missense |
probably benign |
|
|
R6999:Brinp2
|
UTSW |
1 |
158,078,875 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7144:Brinp2
|
UTSW |
1 |
158,122,994 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7221:Brinp2
|
UTSW |
1 |
158,094,117 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7376:Brinp2
|
UTSW |
1 |
158,078,938 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7381:Brinp2
|
UTSW |
1 |
158,073,913 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7388:Brinp2
|
UTSW |
1 |
158,082,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7531:Brinp2
|
UTSW |
1 |
158,094,142 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7697:Brinp2
|
UTSW |
1 |
158,095,496 (GRCm39) |
missense |
probably benign |
|
|
R7701:Brinp2
|
UTSW |
1 |
158,094,030 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7910:Brinp2
|
UTSW |
1 |
158,074,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7973:Brinp2
|
UTSW |
1 |
158,074,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7976:Brinp2
|
UTSW |
1 |
158,073,913 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9343:Brinp2
|
UTSW |
1 |
158,077,090 (GRCm39) |
splice site |
probably benign |
|
|
R9513:Brinp2
|
UTSW |
1 |
158,074,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Brinp2
|
UTSW |
1 |
158,095,553 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Brinp2
|
UTSW |
1 |
158,074,559 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Brinp2
|
UTSW |
1 |
158,074,741 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Brinp2
|
UTSW |
1 |
158,074,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Brinp2
|
UTSW |
1 |
158,074,352 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGTGCAGTGGCTGTTTC -3'
(R):5'- ACTCAAGGTTCCCAGGACTCTG -3'
Sequencing Primer
(F):5'- CAGTGGCTGTTTCATTGTCTTTC -3'
(R):5'- CTCATTGAGCTTAGAGACCGG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation