Mutagenetix > Incidental Mutation

Incidental Mutation 'R0497:Adm'

40533

Institutional Source

Beutler Lab

Gene Symbol

Adm

Ensembl Gene

ENSMUSG00000030790

Gene Name

adrenomedullin

Synonyms

MMRRC Submission

038693-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0497 (G1)

Quality Score

193

Status

Validated

Chromosome

Chromosomal Location

110226868-110229027 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110228328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 170 (T170A)

Ref Sequence

ENSEMBL: ENSMUSP00000033054 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033054]

AlphaFold

P97297

Predicted Effect

probably benign
Transcript: ENSMUST00000033054
AA Change: T170A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033054
Gene: ENSMUSG00000030790
AA Change: T170A

Domain	Start	End	E-Value	Type
Pfam:Calc_CGRP_IAPP	1	149	2.6e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185766

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186888

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (68/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a preprohormone which is cleaved to form two biologically active peptides, adrenomedullin and proadrenomedullin N-terminal 20 peptide. Adrenomedullin is a 52 aa peptide with several functions, including vasodilation, regulation of hormone secretion, promotion of angiogenesis, and antimicrobial activity. The antimicrobial activity is antibacterial, as the peptide has been shown to kill E. coli and S. aureus at low concentration. [provided by RefSeq, Aug 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit cardiovascular defects, hyrdops fetalis, and lethality at midgestation with defects in placental defects, impaired fetal blood vessel and materal spiral artery remodeling, and decreased uterine NK cell numbers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	C	11: 119,909,606 (GRCm39)	V110G	probably damaging	Het
Adcy6	A	C	15: 98,495,606 (GRCm39)		probably null	Het
Afap1l2	G	T	19: 56,918,641 (GRCm39)	N171K	probably benign	Het
Aph1b	G	T	9: 66,697,900 (GRCm39)	S112*	probably null	Het
Arhgap23	A	G	11: 97,342,989 (GRCm39)	S424G	probably damaging	Het
Asah2	T	A	19: 32,032,031 (GRCm39)	N46I	probably benign	Het
Braf	G	A	6: 39,617,483 (GRCm39)		probably benign	Het
Brd2	C	T	17: 34,333,334 (GRCm39)	R47Q	probably damaging	Het
C2cd5	A	G	6: 142,957,819 (GRCm39)	V972A	probably benign	Het
Car9	T	A	4: 43,511,881 (GRCm39)	L300H	probably damaging	Het
Chmp3	T	C	6: 71,529,395 (GRCm39)	S20P	probably damaging	Het
Chp1	A	G	2: 119,402,263 (GRCm39)	N79S	possibly damaging	Het
Cnot2	A	T	10: 116,334,260 (GRCm39)	I335N	probably damaging	Het
Cntnap4	T	C	8: 113,296,783 (GRCm39)	V6A	probably benign	Het
Ctcf	T	A	8: 106,401,672 (GRCm39)		probably benign	Het
Dennd1b	A	G	1: 138,967,724 (GRCm39)		probably benign	Het
Dnmbp	A	G	19: 43,845,079 (GRCm39)		probably benign	Het
Eef2	T	C	10: 81,017,420 (GRCm39)	F782L	probably benign	Het
Eogt	T	A	6: 97,112,194 (GRCm39)	Y153F	probably benign	Het
Fam81a	G	T	9: 70,003,401 (GRCm39)	Q237K	possibly damaging	Het
Fat2	T	A	11: 55,174,228 (GRCm39)	T2162S	probably benign	Het
Fcgbpl1	T	A	7: 27,846,890 (GRCm39)	C1158S	probably damaging	Het
Gas6	T	C	8: 13,520,387 (GRCm39)	I434V	possibly damaging	Het
Gm42417	A	T	1: 36,571,248 (GRCm39)	L77Q	probably damaging	Het
Grik3	A	T	4: 125,517,303 (GRCm39)	N49Y	possibly damaging	Het
Gucy2e	A	T	11: 69,114,985 (GRCm39)	V974E	probably damaging	Het
Helz2	A	G	2: 180,871,449 (GRCm39)	V2721A	probably damaging	Het
Klhl6	GT	G	16: 19,775,716 (GRCm39)	279	probably null	Het
Krt73	A	G	15: 101,710,665 (GRCm39)	L23P	probably damaging	Het
L3mbtl3	T	C	10: 26,158,772 (GRCm39)		probably benign	Het
Lrrc15	A	T	16: 30,091,710 (GRCm39)	V543E	probably damaging	Het
Med13	G	A	11: 86,167,809 (GRCm39)		probably benign	Het
Med25	T	C	7: 44,541,524 (GRCm39)	D60G	probably damaging	Het
Mgam	T	A	6: 40,641,826 (GRCm39)	Y560N	probably damaging	Het
Mlkl	A	G	8: 112,054,505 (GRCm39)	Y211H	probably damaging	Het
Msl2	A	G	9: 100,978,493 (GRCm39)	N289S	probably benign	Het
Nwd2	G	T	5: 63,963,686 (GRCm39)	W1090L	probably damaging	Het
Omt2b	T	C	9: 78,235,513 (GRCm39)		probably benign	Het
Or4k37	A	G	2: 111,159,175 (GRCm39)	D137G	probably benign	Het
Pald1	A	G	10: 61,177,094 (GRCm39)	L652P	probably damaging	Het
Pard3b	T	A	1: 62,479,167 (GRCm39)		probably null	Het
Prdm15	G	A	16: 97,595,534 (GRCm39)	T1098I	possibly damaging	Het
Rock2	A	G	12: 17,004,954 (GRCm39)	T436A	probably benign	Het
Sema4c	A	T	1: 36,588,689 (GRCm39)	D812E	probably benign	Het
Sla	A	T	15: 66,664,098 (GRCm39)	I91K	probably benign	Het
Slc22a16	T	G	10: 40,460,963 (GRCm39)	M255R	probably damaging	Het
Slc49a4	A	T	16: 35,555,974 (GRCm39)	V162D	probably benign	Het
Smg8	C	T	11: 86,976,910 (GRCm39)	D224N	possibly damaging	Het
Spdef	A	T	17: 27,937,032 (GRCm39)	D190E	probably benign	Het
Taok1	A	G	11: 77,464,630 (GRCm39)	I152T	probably damaging	Het
Tmem220	A	G	11: 66,916,748 (GRCm39)	D36G	probably damaging	Het
Tmem235	A	C	11: 117,755,177 (GRCm39)	I210L	probably benign	Het
Tmem266	C	T	9: 55,288,168 (GRCm39)		probably null	Het
Tmprss12	A	G	15: 100,178,920 (GRCm39)		probably benign	Het
Trim32	G	A	4: 65,531,491 (GRCm39)	R16Q	probably damaging	Het
Usp38	T	A	8: 81,711,053 (GRCm39)		probably benign	Het
Usp44	C	T	10: 93,682,668 (GRCm39)	P373S	possibly damaging	Het
Vmn1r209	G	T	13: 22,990,118 (GRCm39)	Q191K	probably damaging	Het
Vmn1r70	T	C	7: 10,367,953 (GRCm39)	I147T	probably benign	Het
Vmn2r107	T	A	17: 20,595,394 (GRCm39)	I649N	probably damaging	Het
Vmn2r12	A	T	5: 109,239,755 (GRCm39)	Y269*	probably null	Het
Zan	C	T	5: 137,410,938 (GRCm39)		probably benign	Het
Zfp616	G	T	11: 73,974,306 (GRCm39)	V192L	probably benign	Het
Zfp644	A	T	5: 106,786,199 (GRCm39)	V116D	probably damaging	Het
Zgrf1	T	C	3: 127,378,299 (GRCm39)		probably benign	Het
Zhx3	A	T	2: 160,621,914 (GRCm39)	L751*	probably null	Het
Znfx1	T	A	2: 166,897,331 (GRCm39)	Q531L	probably benign	Het

Other mutations in Adm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00793:Adm	APN	7	110,227,788 (GRCm39)	missense	probably damaging	1.00
IGL01950:Adm	APN	7	110,228,107 (GRCm39)	missense	probably damaging	1.00
IGL01965:Adm	APN	7	110,227,832 (GRCm39)	missense	probably benign	0.04
PIT4696001:Adm	UTSW	7	110,227,496 (GRCm39)	missense	probably benign	0.36
R0630:Adm	UTSW	7	110,227,755 (GRCm39)	missense	probably damaging	1.00
R0879:Adm	UTSW	7	110,227,559 (GRCm39)	missense	possibly damaging	0.93
R1116:Adm	UTSW	7	110,227,501 (GRCm39)	missense	probably benign	0.00
R1595:Adm	UTSW	7	110,228,298 (GRCm39)	missense	probably damaging	1.00
R4880:Adm	UTSW	7	110,228,326 (GRCm39)	missense	probably benign	0.01
R5992:Adm	UTSW	7	110,226,903 (GRCm39)	start gained	probably benign
R6296:Adm	UTSW	7	110,227,561 (GRCm39)	missense	probably benign	0.00
R6387:Adm	UTSW	7	110,227,502 (GRCm39)	missense	possibly damaging	0.74
R7181:Adm	UTSW	7	110,228,236 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCACATTTCAGAAATTGGCCCAC -3'
(R):5'- GACAACAAGCATTGCACGTTCCTC -3'

Sequencing Primer
(F):5'- TTGGCCCACCAGATCTACC -3'
(R):5'- AGTAATGAGGCTTATGCCCC -3'

Posted On

2013-05-23