Incidental Mutation 'R9343:Brinp2'
| ID |
731359 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.237)
|
| Stock # |
R9343 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
158072839-158183896 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 158077090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004133]
[ENSMUST00000195271]
|
| AlphaFold |
Q6DFY8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004133
|
| SMART Domains |
Protein: ENSMUSP00000004133
Gene: ENSMUSG00000004031
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
A |
G |
2: 103,547,505 (GRCm39) |
I960V |
probably benign |
Het |
| Alpk3 |
A |
G |
7: 80,742,079 (GRCm39) |
D632G |
probably benign |
Het |
| Aplp2 |
A |
T |
9: 31,122,935 (GRCm39) |
L30Q |
unknown |
Het |
| Axl |
A |
T |
7: 25,473,544 (GRCm39) |
Y361N |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,992,701 (GRCm39) |
D1017G |
probably damaging |
Het |
| Cc2d2a |
A |
T |
5: 43,875,999 (GRCm39) |
D1046V |
probably damaging |
Het |
| Cdc42bpg |
G |
A |
19: 6,364,553 (GRCm39) |
G594S |
probably damaging |
Het |
| Clcn6 |
A |
G |
4: 148,098,458 (GRCm39) |
S519P |
probably benign |
Het |
| Cnot2 |
T |
G |
10: 116,346,326 (GRCm39) |
H92P |
|
Het |
| Col2a1 |
T |
C |
15: 97,877,775 (GRCm39) |
D1049G |
probably damaging |
Het |
| Creld1 |
C |
T |
6: 113,466,728 (GRCm39) |
A237V |
probably benign |
Het |
| Csf2rb2 |
A |
T |
15: 78,171,287 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
G |
A |
15: 48,015,001 (GRCm39) |
T643I |
probably damaging |
Het |
| Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
| Fcmr |
A |
T |
1: 130,802,072 (GRCm39) |
T109S |
|
Het |
| Grap |
C |
A |
11: 61,562,551 (GRCm39) |
P174Q |
possibly damaging |
Het |
| Itgb5 |
T |
A |
16: 33,730,826 (GRCm39) |
|
probably benign |
Het |
| Kidins220 |
A |
G |
12: 25,058,078 (GRCm39) |
N561S |
probably damaging |
Het |
| Mri1 |
A |
T |
8: 84,983,796 (GRCm39) |
S32T |
probably benign |
Het |
| Mrtfb |
T |
C |
16: 13,218,791 (GRCm39) |
V479A |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,569,971 (GRCm39) |
T344S |
possibly damaging |
Het |
| Npc1 |
A |
G |
18: 12,334,769 (GRCm39) |
I661T |
possibly damaging |
Het |
| Npy1r |
A |
G |
8: 67,156,751 (GRCm39) |
N57S |
probably damaging |
Het |
| Pds5b |
A |
G |
5: 150,704,186 (GRCm39) |
D863G |
probably damaging |
Het |
| Phf14 |
T |
A |
6: 11,961,563 (GRCm39) |
V400D |
probably damaging |
Het |
| Polr2l |
A |
G |
7: 141,053,246 (GRCm39) |
I56T |
probably benign |
Het |
| Ppat |
A |
G |
5: 77,063,884 (GRCm39) |
I422T |
probably benign |
Het |
| Prkcg |
T |
A |
7: 3,359,124 (GRCm39) |
S110R |
possibly damaging |
Het |
| Rab7b |
A |
T |
1: 131,639,540 (GRCm39) |
|
probably benign |
Het |
| Rnf152 |
A |
T |
1: 105,212,251 (GRCm39) |
L102Q |
|
Het |
| Samd12 |
A |
G |
15: 53,583,088 (GRCm39) |
V82A |
probably damaging |
Het |
| Serpina1e |
T |
A |
12: 103,917,299 (GRCm39) |
R123S |
probably benign |
Het |
| Slit1 |
T |
A |
19: 41,615,737 (GRCm39) |
N794I |
probably damaging |
Het |
| Surf6 |
T |
C |
2: 26,783,006 (GRCm39) |
K154R |
probably damaging |
Het |
| Tln2 |
C |
T |
9: 67,230,353 (GRCm39) |
A71T |
probably benign |
Het |
| Trim3 |
A |
G |
7: 105,260,673 (GRCm39) |
Y649H |
probably benign |
Het |
| Ttll7 |
T |
A |
3: 146,667,497 (GRCm39) |
W808R |
probably damaging |
Het |
| Tvp23a |
T |
C |
16: 10,245,287 (GRCm39) |
D104G |
probably damaging |
Het |
| Upp2 |
A |
G |
2: 58,645,339 (GRCm39) |
|
probably benign |
Het |
| Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
| Vmn1r119 |
A |
G |
7: 20,746,358 (GRCm39) |
V8A |
probably benign |
Het |
| Vmn1r209 |
T |
A |
13: 22,990,546 (GRCm39) |
H48L |
probably damaging |
Het |
| Wdr11 |
T |
C |
7: 129,232,523 (GRCm39) |
|
probably null |
Het |
| Zcchc17 |
T |
C |
4: 130,210,546 (GRCm39) |
D207G |
probably damaging |
Het |
| Zfp78 |
T |
C |
7: 6,381,942 (GRCm39) |
S331P |
probably damaging |
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 |
|
R3924:Brinp2
|
UTSW |
1 |
158,073,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- AGCGCTTGCAGAGATTGAAG -3'
(R):5'- AAGAGTGACAAGAGACCTGTTTTG -3'
Sequencing Primer
(F):5'- CTTGCAGAGATTGAAGAGGCG -3'
(R):5'- TGTGAGTCACTGCACACATG -3'
|
| Posted On |
2022-11-09 |
Incidental Mutation