Incidental Mutation 'R1986:Brinp2'
ID 220573
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 039998-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R1986 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 158072839-158183896 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 158074348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 591 (N591S)
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: N591S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004133
Gene: ENSMUSG00000004031
AA Change: N591S

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:MACPF 63 160 2.1e-6 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,212,977 (GRCm39) S105P probably damaging Het
9930111J21Rik2 T A 11: 48,910,119 (GRCm39) K771N possibly damaging Het
Abcc2 A G 19: 43,818,318 (GRCm39) E1268G probably damaging Het
Adamts4 T C 1: 171,084,244 (GRCm39) F574L possibly damaging Het
Adamts9 A G 6: 92,773,375 (GRCm39) V1165A probably benign Het
Agap2 A T 10: 126,918,913 (GRCm39) K430* probably null Het
Amn G T 12: 111,241,431 (GRCm39) G232V probably damaging Het
Ank3 A G 10: 69,703,258 (GRCm39) E297G probably damaging Het
Arhgap45 T C 10: 79,856,530 (GRCm39) L26P probably damaging Het
Atp10b C A 11: 43,063,595 (GRCm39) Q177K probably benign Het
Bbs10 A T 10: 111,135,118 (GRCm39) D77V probably damaging Het
Bltp2 A T 11: 78,165,438 (GRCm39) H1318L probably damaging Het
Bpifa1 T A 2: 153,986,256 (GRCm39) L127Q probably damaging Het
C2cd2 A C 16: 97,671,471 (GRCm39) V476G probably damaging Het
C7 T A 15: 5,041,494 (GRCm39) T471S possibly damaging Het
Cacna1b A T 2: 24,538,998 (GRCm39) Y1488N probably damaging Het
Cadps2 A G 6: 23,323,379 (GRCm39) F1001L probably damaging Het
Ccdc188 T C 16: 18,036,707 (GRCm39) S216P probably damaging Het
Ccdc24 A G 4: 117,729,213 (GRCm39) L88P probably damaging Het
Dab1 T C 4: 104,470,412 (GRCm39) I65T probably damaging Het
Dock4 A T 12: 40,780,062 (GRCm39) D621V probably damaging Het
Drd5 A T 5: 38,477,456 (GRCm39) M150L probably damaging Het
Eef2k T A 7: 120,472,569 (GRCm39) M94K possibly damaging Het
Epg5 A G 18: 78,025,521 (GRCm39) probably null Het
Epsti1 T C 14: 78,169,673 (GRCm39) probably null Het
Ern2 T A 7: 121,770,752 (GRCm39) D754V probably benign Het
Fbxo6 A G 4: 148,230,552 (GRCm39) Y237H probably damaging Het
Fbxw24 A G 9: 109,436,124 (GRCm39) S303P probably damaging Het
Fpr-rs3 A T 17: 20,844,103 (GRCm39) probably null Het
Gab1 G T 8: 81,493,010 (GRCm39) T679K probably damaging Het
Gbp9 C A 5: 105,253,590 (GRCm39) V42F probably damaging Het
Gbp9 A T 5: 105,253,652 (GRCm39) V21E probably damaging Het
Gm20821 A G Y: 9,783,927 (GRCm39) Q183R probably benign Het
Gpatch11 A T 17: 79,151,266 (GRCm39) I226F probably benign Het
Hephl1 T G 9: 14,965,848 (GRCm39) E1035A probably damaging Het
Hspa4l T C 3: 40,714,833 (GRCm39) V156A probably damaging Het
Ifna13 A G 4: 88,562,588 (GRCm39) V12A probably benign Het
Il24 G A 1: 130,810,268 (GRCm39) T196I probably benign Het
Irgm2 A G 11: 58,110,384 (GRCm39) D37G probably benign Het
Irs1 A G 1: 82,266,486 (GRCm39) S577P probably damaging Het
Kif21b G A 1: 136,075,284 (GRCm39) D166N probably damaging Het
Krtap4-16 T C 11: 99,742,322 (GRCm39) Q26R unknown Het
Lig1 T A 7: 13,043,067 (GRCm39) Y837* probably null Het
Lrrc69 T C 4: 14,708,669 (GRCm39) E225G possibly damaging Het
Map3k20 C T 2: 72,271,638 (GRCm39) Q589* probably null Het
Masp1 T G 16: 23,302,211 (GRCm39) M347L probably benign Het
Mgat3 A T 15: 80,096,390 (GRCm39) I406F probably benign Het
Mmp1b T G 9: 7,368,577 (GRCm39) D425A probably benign Het
Mss51 T C 14: 20,533,259 (GRCm39) H404R probably benign Het
Myo15b A T 11: 115,773,701 (GRCm39) H1911L probably benign Het
Nedd4l A G 18: 65,276,874 (GRCm39) D102G probably damaging Het
Niban3 T A 8: 72,056,404 (GRCm39) I368N possibly damaging Het
Npc2 T C 12: 84,807,523 (GRCm39) K112E probably benign Het
Nuggc T A 14: 65,879,370 (GRCm39) V694E probably damaging Het
Olfm1 T G 2: 28,104,718 (GRCm39) V157G probably benign Het
Or10h28 T C 17: 33,488,489 (GRCm39) S264P probably benign Het
Or5p55 T C 7: 107,566,877 (GRCm39) V91A probably benign Het
Otogl T A 10: 107,630,051 (GRCm39) probably null Het
Ovgp1 G A 3: 105,882,251 (GRCm39) C38Y probably damaging Het
Pisd A T 5: 32,894,672 (GRCm39) S344T probably damaging Het
Psme4 T C 11: 30,780,352 (GRCm39) V840A probably benign Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rims2 T A 15: 39,208,710 (GRCm39) M171K probably damaging Het
Rin2 T A 2: 145,720,860 (GRCm39) M731K probably damaging Het
Scgb1b19 T C 7: 32,987,108 (GRCm39) probably null Het
Serpina10 A G 12: 103,594,514 (GRCm39) I235T possibly damaging Het
Setbp1 T A 18: 78,901,759 (GRCm39) E636V probably damaging Het
Sh3d21 C T 4: 126,056,290 (GRCm39) E101K probably damaging Het
Ski T G 4: 155,306,148 (GRCm39) D225A probably damaging Het
Slc28a2b A G 2: 122,357,910 (GRCm39) T655A probably benign Het
Slc29a3 T C 10: 60,559,593 (GRCm39) Y187C probably damaging Het
Sort1 T A 3: 108,253,043 (GRCm39) D494E possibly damaging Het
Sphkap A T 1: 83,255,643 (GRCm39) L702Q probably damaging Het
Srr A G 11: 74,799,545 (GRCm39) I285T probably damaging Het
Stam2 T C 2: 52,599,638 (GRCm39) T257A possibly damaging Het
Suds3 A T 5: 117,246,417 (GRCm39) N112K probably damaging Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tesk2 T C 4: 116,608,390 (GRCm39) L104P probably damaging Het
Tie1 C T 4: 118,336,160 (GRCm39) R702H probably benign Het
Tpo G T 12: 30,169,465 (GRCm39) A90E probably damaging Het
Trim30a T C 7: 104,060,672 (GRCm39) D368G probably damaging Het
Ugt2a2 A T 5: 87,608,438 (GRCm39) M633K possibly damaging Het
Vars2 A G 17: 35,970,953 (GRCm39) W626R probably damaging Het
Vmn2r10 A T 5: 109,154,120 (GRCm39) Y61* probably null Het
Vmn2r95 T C 17: 18,671,805 (GRCm39) V514A probably benign Het
Vwa5a T G 9: 38,649,110 (GRCm39) probably benign Het
Zfp365 A T 10: 67,745,686 (GRCm39) C31S probably damaging Het
Zfp397 A T 18: 24,093,108 (GRCm39) I198F possibly damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp593 T C 4: 133,972,206 (GRCm39) E100G possibly damaging Het
Other mutations in Brinp2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TCATCCAGGGACTTGATTCGG -3'
(R):5'- ATAGCCGCATTGAGGTACAC -3'

Sequencing Primer
(F):5'- GACTTGATTCGGCTCCGTAG -3'
(R):5'- CGCATTGAGGTACACTCCATC -3'
Posted On 2014-08-25