Mutagenetix > Incidental Mutation

Incidental Mutation 'R9246:Bmpr1a'

701319

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9246 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34133018-34225335 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34156664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 121 (T121A)

Ref Sequence

ENSEMBL: ENSMUSP00000035900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049005] [ENSMUST00000165280]

AlphaFold

P36895

Predicted Effect

probably benign
Transcript: ENSMUST00000049005
AA Change: T121A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000035900
Gene: ENSMUSG00000021796
AA Change: T121A

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000165280
AA Change: T121A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000131984
Gene: ENSMUSG00000021796
AA Change: T121A

Domain	Start	End	E-Value	Type
Pfam:Activin_recp	59	138	1.3e-14	PFAM
transmembrane domain	153	175	N/A	INTRINSIC
GS	204	234	7.44e-13	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	T	7: 27,279,961 (GRCm39)	T314I	probably benign	Het
Abca7	G	A	10: 79,838,535 (GRCm39)	S603N	probably damaging	Het
Abcc2	T	C	19: 43,786,882 (GRCm39)	F168L	probably benign	Het
Abcc8	T	C	7: 45,774,289 (GRCm39)	T764A	probably benign	Het
Acot4	A	C	12: 84,090,097 (GRCm39)	I265L	probably benign	Het
Adrb2	C	A	18: 62,312,226 (GRCm39)	A200S	probably damaging	Het
Atp2c2	G	T	8: 120,456,989 (GRCm39)	R197L	probably damaging	Het
Brwd1	A	T	16: 95,804,016 (GRCm39)	S2051R	probably benign	Het
Card10	T	C	15: 78,673,036 (GRCm39)	E547G	possibly damaging	Het
Cbln1	A	T	8: 88,197,048 (GRCm39)	I139N	probably damaging	Het
Ccdc86	CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA	CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA	19: 10,926,162 (GRCm39)		probably benign	Het
Cdh16	C	T	8: 105,344,602 (GRCm39)	D510N	probably benign	Het
Cdh2	G	A	18: 16,781,654 (GRCm39)	Q146*	probably null	Het
Cdhr1	T	G	14: 36,801,654 (GRCm39)	K763T	possibly damaging	Het
Cfl1	G	C	19: 5,543,634 (GRCm39)	G204R	probably damaging	Het
Clcn6	A	T	4: 148,113,866 (GRCm39)	V64E	probably benign	Het
Col4a4	G	A	1: 82,430,956 (GRCm39)	P1649S	unknown	Het
Ctnna1	T	A	18: 35,356,562 (GRCm39)	N410K	probably benign	Het
Dhx34	A	G	7: 15,937,162 (GRCm39)	F845S	probably damaging	Het
Dnah7c	T	G	1: 46,571,934 (GRCm39)	N802K	possibly damaging	Het
Dnmt3a	T	C	12: 3,949,204 (GRCm39)	S492P	probably damaging	Het
Fhit	C	A	14: 10,421,494 (GRCm38)		probably null	Het
Fzd2	A	T	11: 102,496,749 (GRCm39)	I398F	possibly damaging	Het
Gm9195	A	G	14: 72,710,314 (GRCm39)	S457P	probably benign	Het
Gnao1	A	G	8: 94,676,967 (GRCm39)	K211E		Het
Gzme	T	C	14: 56,356,198 (GRCm39)	D100G	probably benign	Het
Hook3	T	C	8: 26,562,319 (GRCm39)	T249A	probably benign	Het
Hoxd4	G	A	2: 74,558,747 (GRCm39)	C190Y	possibly damaging	Het
Hr	T	A	14: 70,808,915 (GRCm39)	V1097E	probably damaging	Het
Iqca1l	T	G	5: 24,753,969 (GRCm39)	E430A	probably benign	Het
Kdm3b	A	T	18: 34,941,480 (GRCm39)	K524*	probably null	Het
Kif18a	A	G	2: 109,163,819 (GRCm39)	T723A	probably benign	Het
Kif1a	A	G	1: 93,005,501 (GRCm39)	V91A	probably damaging	Het
Krtap19-2	AAAGCCTCCAAAGCCTCCATAGCCAGAGCCATATCCGAAGCCTCCA	AAAGCCTCCA	16: 88,670,859 (GRCm39)		probably benign	Het
Lama3	G	A	18: 12,710,959 (GRCm39)	V1559M	probably damaging	Het
Maco1	A	G	4: 134,565,242 (GRCm39)	V47A	possibly damaging	Het
Msto1	A	T	3: 88,819,411 (GRCm39)	I160N	probably damaging	Het
Muc5ac	C	A	7: 141,364,215 (GRCm39)	Q2509K	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Or1ad8	T	A	11: 50,897,891 (GRCm39)	F31I	probably damaging	Het
Or2ag2b	C	T	7: 106,417,938 (GRCm39)	T216I	probably benign	Het
Or52ad1	C	T	7: 102,995,908 (GRCm39)	V76I	probably damaging	Het
Or7e170	T	C	9: 19,795,686 (GRCm39)		probably benign	Het
Or8k21	A	T	2: 86,145,222 (GRCm39)	M136K	probably damaging	Het
Pik3c3	C	A	18: 30,466,364 (GRCm39)	A805D	probably damaging	Het
Pnn	A	G	12: 59,116,929 (GRCm39)	Q167R	probably damaging	Het
Pogk	G	T	1: 166,226,380 (GRCm39)	H590Q	probably damaging	Het
Prkcd	A	G	14: 30,327,432 (GRCm39)	L251P	probably damaging	Het
Prrc1	T	A	18: 57,496,208 (GRCm39)	V53E	probably benign	Het
Ripor1	T	C	8: 106,345,522 (GRCm39)	F856S	unknown	Het
Rnf31	G	A	14: 55,833,698 (GRCm39)	A569T	probably benign	Het
Robo1	T	A	16: 72,769,178 (GRCm39)	D532E	probably benign	Het
Sh2d6	T	A	6: 72,497,594 (GRCm39)	K3*	probably null	Het
Slc22a27	T	C	19: 7,874,209 (GRCm39)	T289A	probably benign	Het
Speg	T	C	1: 75,361,498 (GRCm39)	S171P	probably damaging	Het
Stag1	T	A	9: 100,770,329 (GRCm39)	F622I	probably benign	Het
Stxbp1	T	C	2: 32,679,586 (GRCm39)	D589G	possibly damaging	Het
Syne1	T	C	10: 5,255,706 (GRCm39)	I2391M	probably benign	Het
Sytl2	A	G	7: 90,007,384 (GRCm39)	M49V	probably benign	Het
Tmem185b	T	C	1: 119,454,368 (GRCm39)	V43A	probably damaging	Het
Trappc8	A	T	18: 20,993,590 (GRCm39)	M499K	possibly damaging	Het
Vmn1r172	T	A	7: 23,359,593 (GRCm39)	S159R	possibly damaging	Het
Vmn1r62	A	G	7: 5,678,628 (GRCm39)	Y103C	probably damaging	Het
Vmn1r65	C	T	7: 6,011,769 (GRCm39)	C155Y	possibly damaging	Het
Vmn2r112	G	A	17: 22,824,088 (GRCm39)	V448I	probably benign	Het
Zfp592	A	T	7: 80,691,529 (GRCm39)	D1236V	probably benign	Het
Zfp827	T	C	8: 79,803,132 (GRCm39)	V568A	possibly damaging	Het
Zscan4-ps3	A	T	7: 11,346,320 (GRCm39)	I147F	probably damaging	Het

Other mutations in Bmpr1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R7270:Bmpr1a	UTSW	14	34,163,082 (GRCm39)	missense	probably damaging	0.96
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
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'- CTGCATCGTACAAAGAGGGTGA -3'
(R):5'- AAATCACCAAAGTTCTTCATTCCTT -3'

Sequencing Primer
(F):5'- GGGTGAGAAAATAATTCATAGCACTG -3'
(R):5'- GGAACAAGGTTTCTCTATGTAGCCC -3'

Posted On

2022-03-25