Incidental Mutation 'R7270:Bmpr1a'
ID 565253
Institutional Source Beutler Lab
Gene Symbol Bmpr1a
Ensembl Gene ENSMUSG00000021796
Gene Name bone morphogenetic protein receptor, type 1A
Synonyms 1110037I22Rik, BMPR-IA, Bmpr, ALK3
MMRRC Submission 045390-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7270 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 34133018-34225335 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34163082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 103 (Y103H)
Ref Sequence ENSEMBL: ENSMUSP00000035900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049005] [ENSMUST00000165280] [ENSMUST00000171343] [ENSMUST00000171551]
AlphaFold P36895
Predicted Effect probably damaging
Transcript: ENSMUST00000049005
AA Change: Y103H

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000035900
Gene: ENSMUSG00000021796
AA Change: Y103H

DomainStartEndE-ValueType
Pfam:Activin_recp 59 138 4.6e-14 PFAM
transmembrane domain 153 175 N/A INTRINSIC
GS 204 234 7.44e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000165280
AA Change: Y103H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131984
Gene: ENSMUSG00000021796
AA Change: Y103H

DomainStartEndE-ValueType
Pfam:Activin_recp 59 138 1.3e-14 PFAM
transmembrane domain 153 175 N/A INTRINSIC
GS 204 234 7.44e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000171343
AA Change: Y103H

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126852
Gene: ENSMUSG00000021796
AA Change: Y103H

DomainStartEndE-ValueType
Pfam:Activin_recp 59 138 2e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171551
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants die by embryonic day 9.5, are smaller than normal, and form no mesoderm; a conditional knockout resulted in gross malformations of the limbs with complete agenesis of the hindlimb. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg1l A T 10: 42,301,245 (GRCm39) Y193N probably damaging Het
Ahnak2 A T 12: 112,780,802 (GRCm38) V70E Het
Aimp1 T C 3: 132,382,772 (GRCm39) K44E probably damaging Het
Arid1b T A 17: 5,046,318 (GRCm39) Y369N unknown Het
Art5 A T 7: 101,747,080 (GRCm39) V233D probably damaging Het
Baz2b T A 2: 59,792,836 (GRCm39) N431Y possibly damaging Het
Bik T A 15: 83,428,364 (GRCm39) F131I possibly damaging Het
Cabp7 C T 11: 4,696,676 (GRCm39) V18M possibly damaging Het
Cacna1a C A 8: 85,297,866 (GRCm39) T1240N probably damaging Het
Cacna1h A G 17: 25,603,739 (GRCm39) V1311A probably damaging Het
Cbarp A C 10: 79,973,151 (GRCm39) S16A possibly damaging Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Ces2b A T 8: 105,564,472 (GRCm39) H494L possibly damaging Het
Cfap43 T A 19: 47,728,224 (GRCm39) H1511L possibly damaging Het
Cfap54 A G 10: 92,675,320 (GRCm39) V2867A probably benign Het
Col5a1 C T 2: 27,887,597 (GRCm39) P956L unknown Het
Dcakd T G 11: 102,891,032 (GRCm39) Q19P possibly damaging Het
Ddx47 T A 6: 135,000,301 (GRCm39) D432E probably benign Het
Dhrs7b T C 11: 60,735,055 (GRCm39) F29L probably benign Het
Dis3l2 A T 1: 86,918,025 (GRCm39) D558V possibly damaging Het
Dtx3l T A 16: 35,754,027 (GRCm39) D193V probably damaging Het
Eif1ad12 T C 12: 87,541,663 (GRCm39) L58P probably damaging Het
Epha4 G A 1: 77,376,422 (GRCm39) R486C probably damaging Het
Fam186a T C 15: 99,842,033 (GRCm39) T1404A possibly damaging Het
Fat1 A G 8: 45,490,475 (GRCm39) T3796A probably damaging Het
Ffar2 A T 7: 30,518,929 (GRCm39) W204R probably benign Het
Ftmt A G 18: 52,465,091 (GRCm39) I136V probably benign Het
Gm10300 T C 4: 131,802,167 (GRCm39) W54R unknown Het
Gm10518 C T 1: 179,630,949 (GRCm39) P3L unknown Het
Grm2 G A 9: 106,528,257 (GRCm39) T209M probably damaging Het
Gtdc1 C T 2: 44,525,322 (GRCm39) M176I probably benign Het
Insrr T C 3: 87,710,440 (GRCm39) L382P probably damaging Het
Jade2 A G 11: 51,708,011 (GRCm39) V734A possibly damaging Het
Kcnh4 C T 11: 100,638,472 (GRCm39) R586H probably benign Het
Kdm1a A T 4: 136,279,838 (GRCm39) D721E probably damaging Het
Knl1 G A 2: 118,933,003 (GRCm39) C2054Y possibly damaging Het
Lrrk2 C T 15: 91,584,644 (GRCm39) P354S probably benign Het
Luzp2 A G 7: 54,724,774 (GRCm39) I112V probably damaging Het
Mgl2 T C 11: 70,026,506 (GRCm39) S105P probably damaging Het
Mocs1 T A 17: 49,756,143 (GRCm39) M200K possibly damaging Het
Oat T A 7: 132,168,927 (GRCm39) I98L probably benign Het
Obscn T C 11: 58,920,312 (GRCm39) Y8C Het
Or5b108 G A 19: 13,168,768 (GRCm39) V246I possibly damaging Het
Or6c1b T G 10: 129,273,319 (GRCm39) F213V probably benign Het
Pde1b T A 15: 103,430,082 (GRCm39) M137K possibly damaging Het
Phf21a T C 2: 92,157,484 (GRCm39) I204T probably damaging Het
Plcd4 A G 1: 74,593,838 (GRCm39) E321G possibly damaging Het
Plpp7 C T 2: 31,985,662 (GRCm39) probably benign Het
Prdm1 A G 10: 44,317,566 (GRCm39) I419T probably benign Het
Sec16b A T 1: 157,392,032 (GRCm39) R855W probably damaging Het
Sec16b G T 1: 157,392,033 (GRCm39) R855M probably damaging Het
Sec31b T C 19: 44,511,482 (GRCm39) T640A probably benign Het
Siglec1 T C 2: 130,923,471 (GRCm39) T425A possibly damaging Het
Sirpd A T 3: 15,385,704 (GRCm39) I66N probably benign Het
Skil T C 3: 31,151,324 (GRCm39) probably benign Het
Slc1a5 G A 7: 16,519,623 (GRCm39) V200M probably damaging Het
Slc25a12 T C 2: 71,154,369 (GRCm39) H139R probably benign Het
Slc25a32 A T 15: 38,961,630 (GRCm39) V187D probably damaging Het
Slc35a3 G A 3: 116,505,455 (GRCm39) probably benign Het
Smap2 C A 4: 120,829,264 (GRCm39) M328I probably benign Het
Spef2 C T 15: 9,600,066 (GRCm39) probably null Het
Srarp A G 4: 141,160,389 (GRCm39) V148A possibly damaging Het
Stard9 T A 2: 120,464,755 (GRCm39) Y73* probably null Het
Tars1 A G 15: 11,392,105 (GRCm39) C236R probably benign Het
Tchh G C 3: 93,351,837 (GRCm39) D426H unknown Het
Tnks2 T C 19: 36,836,545 (GRCm39) F17S Het
Ube2g1 T C 11: 72,553,939 (GRCm39) I30T possibly damaging Het
Ube2o C T 11: 116,434,761 (GRCm39) D567N possibly damaging Het
Unc5b A T 10: 60,608,002 (GRCm39) Y710* probably null Het
Vmn1r215 T C 13: 23,260,089 (GRCm39) V43A possibly damaging Het
Xkr8 A G 4: 132,455,648 (GRCm39) F242L probably benign Het
Zfp526 T A 7: 24,925,345 (GRCm39) C535S probably damaging Het
Other mutations in Bmpr1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00574:Bmpr1a APN 14 34,156,376 (GRCm39) missense probably benign
IGL03100:Bmpr1a APN 14 34,163,164 (GRCm39) unclassified probably benign
R0329:Bmpr1a UTSW 14 34,151,734 (GRCm39) missense probably benign 0.03
R0330:Bmpr1a UTSW 14 34,151,734 (GRCm39) missense probably benign 0.03
R0411:Bmpr1a UTSW 14 34,137,834 (GRCm39) missense possibly damaging 0.58
R0537:Bmpr1a UTSW 14 34,165,769 (GRCm39) unclassified probably benign
R1707:Bmpr1a UTSW 14 34,147,098 (GRCm39) splice site probably benign
R1767:Bmpr1a UTSW 14 34,169,727 (GRCm39) critical splice donor site probably null
R1992:Bmpr1a UTSW 14 34,147,050 (GRCm39) missense probably damaging 1.00
R3757:Bmpr1a UTSW 14 34,156,624 (GRCm39) nonsense probably null
R4125:Bmpr1a UTSW 14 34,156,690 (GRCm39) missense probably benign 0.35
R5320:Bmpr1a UTSW 14 34,146,999 (GRCm39) missense probably damaging 1.00
R6956:Bmpr1a UTSW 14 34,163,132 (GRCm39) missense possibly damaging 0.90
R7254:Bmpr1a UTSW 14 34,136,720 (GRCm39) missense probably benign 0.03
R7267:Bmpr1a UTSW 14 34,165,836 (GRCm39) missense possibly damaging 0.47
R8166:Bmpr1a UTSW 14 34,147,026 (GRCm39) missense probably damaging 1.00
R8348:Bmpr1a UTSW 14 34,136,759 (GRCm39) missense probably benign 0.24
R8448:Bmpr1a UTSW 14 34,136,759 (GRCm39) missense probably benign 0.24
R8948:Bmpr1a UTSW 14 34,163,148 (GRCm39) missense possibly damaging 0.69
R8950:Bmpr1a UTSW 14 34,163,148 (GRCm39) missense possibly damaging 0.69
R9246:Bmpr1a UTSW 14 34,156,664 (GRCm39) missense probably benign 0.00
R9362:Bmpr1a UTSW 14 34,156,360 (GRCm39) missense probably benign 0.01
R9647:Bmpr1a UTSW 14 34,136,694 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- AGCTCAACTCTGCTCACAG -3'
(R):5'- CTTCAACCACTAAGCTATGGCC -3'

Sequencing Primer
(F):5'- ACTCACAGGCTGATTTCTGTACAGG -3'
(R):5'- ATCAGACAGTCTCTGTGTAGCTCAG -3'
Posted On 2019-06-26