Mutagenetix > Incidental Mutation

Incidental Mutation 'R5664:Mrpl37'

444242

Institutional Source

Beutler Lab

Gene Symbol

Mrpl37

Ensembl Gene

ENSMUSG00000028622

Gene Name

mitochondrial ribosomal protein L37

Synonyms

2300004O14Rik, Rpml2, MRP-L2

MMRRC Submission

043307-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R5664 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106913071-106924063 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106921588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 214 (N214D)

Ref Sequence

ENSEMBL: ENSMUSP00000030365 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030364] [ENSMUST00000030365] [ENSMUST00000106758] [ENSMUST00000106760] [ENSMUST00000154283] [ENSMUST00000145324] [ENSMUST00000149453]

AlphaFold

Q921S7

Predicted Effect

probably benign
Transcript: ENSMUST00000030364

SMART Domains

Protein: ENSMUSP00000030364
Gene: ENSMUSG00000028621

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
Pfam:Oxidored-like	15	56	1e-10	PFAM
Pfam:FAD_binding_6	80	156	2.3e-11	PFAM
Pfam:NAD_binding_1	152	266	1.8e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000030365
AA Change: N214D

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000030365
Gene: ENSMUSG00000028622
AA Change: N214D

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
Pfam:PDCD9	292	420	6.4e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106758

SMART Domains

Protein: ENSMUSP00000102369
Gene: ENSMUSG00000028621

Domain	Start	End	E-Value	Type
Pfam:Oxidored-like	10	55	1.7e-15	PFAM
Pfam:FAD_binding_6	80	177	8.2e-25	PFAM
Pfam:NAD_binding_1	187	301	8.8e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106760

SMART Domains

Protein: ENSMUSP00000102371
Gene: ENSMUSG00000028621

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
Pfam:Oxidored-like	15	56	2.5e-14	PFAM
Pfam:FAD_binding_6	80	156	3.1e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125157

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125397

Predicted Effect

probably benign
Transcript: ENSMUST00000126207

SMART Domains

Protein: ENSMUSP00000116114
Gene: ENSMUSG00000028621

Domain	Start	End	E-Value	Type
Pfam:Oxidored-like	4	49	1.3e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138788

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141150

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156406

Predicted Effect

probably benign
Transcript: ENSMUST00000154283

SMART Domains

Protein: ENSMUSP00000119366
Gene: ENSMUSG00000028621

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
Pfam:Oxidored-like	14	56	4.5e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145324

SMART Domains

Protein: ENSMUSP00000122502
Gene: ENSMUSG00000028621

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
Pfam:Oxidored-like	14	56	3.9e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149453

SMART Domains

Protein: ENSMUSP00000121581
Gene: ENSMUSG00000028621

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
Pfam:Oxidored-like	14	56	5e-15	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	T	A	6: 72,325,977 (GRCm39)		probably null	Het
9430015G10Rik	T	A	4: 156,208,016 (GRCm39)	L112H	probably damaging	Het
Acaca	T	C	11: 84,134,210 (GRCm39)	L441P	probably damaging	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Arsj	A	T	3: 126,232,306 (GRCm39)	I351F	probably damaging	Het
Atp6v1b2	A	G	8: 69,560,272 (GRCm39)	T373A	probably damaging	Het
Atr	C	A	9: 95,787,866 (GRCm39)	N1486K	probably benign	Het
Avl9	T	C	6: 56,730,824 (GRCm39)	S583P	probably damaging	Het
Bptf	A	T	11: 106,964,525 (GRCm39)	D1493E	probably benign	Het
Brme1	A	T	8: 84,893,288 (GRCm39)	I152F	probably benign	Het
C2cd2l	T	C	9: 44,225,069 (GRCm39)	E548G	probably damaging	Het
Capn3	G	A	2: 120,307,506 (GRCm39)	R15Q	probably benign	Het
Ccl3	A	G	11: 83,540,039 (GRCm39)	F22S	probably benign	Het
Clcf1	T	C	19: 4,272,150 (GRCm39)	F69S	probably damaging	Het
Col13a1	T	C	10: 61,686,895 (GRCm39)	E170G	probably damaging	Het
Dhx29	T	A	13: 113,083,413 (GRCm39)	F489L	probably damaging	Het
Dhx8	A	T	11: 101,631,577 (GRCm39)	N390I	probably damaging	Het
Dkk1	T	A	19: 30,526,189 (GRCm39)	Y135F	probably benign	Het
Edil3	G	T	13: 89,467,832 (GRCm39)	V446F	probably damaging	Het
Epha5	T	A	5: 84,479,725 (GRCm39)	E93V	probably damaging	Het
Epsti1	C	T	14: 78,201,104 (GRCm39)	T196I	possibly damaging	Het
Fras1	T	C	5: 96,876,394 (GRCm39)	S2376P	possibly damaging	Het
Frem2	A	G	3: 53,559,911 (GRCm39)	V1532A	probably benign	Het
Fsip2	T	A	2: 82,818,439 (GRCm39)	M4724K	probably benign	Het
Gcat	T	A	15: 78,927,273 (GRCm39)	L238Q	probably damaging	Het
Gimap6	T	C	6: 48,679,209 (GRCm39)	K276E	probably benign	Het
Gjb5	T	A	4: 127,249,722 (GRCm39)	I141F	probably benign	Het
Glt6d1	T	C	2: 25,704,192 (GRCm39)	I7V	probably benign	Het
Gtf2h5	G	A	17: 6,134,799 (GRCm39)	G30R	probably damaging	Het
Herc6	C	A	6: 57,595,669 (GRCm39)	T449K	probably benign	Het
Hpn	A	T	7: 30,798,687 (GRCm39)	Y132N	probably damaging	Het
Hpx	A	T	7: 105,244,355 (GRCm39)	M190K	probably benign	Het
Inf2	A	G	12: 112,578,162 (GRCm39)	H1151R	unknown	Het
Krt74	A	G	15: 101,669,014 (GRCm39)		noncoding transcript	Het
Loxl3	G	A	6: 83,026,863 (GRCm39)	S564N	probably benign	Het
Map7	T	A	10: 20,143,105 (GRCm39)	V418E	unknown	Het
Mthfr	T	C	4: 148,139,923 (GRCm39)	Y656H	probably damaging	Het
Myo9b	A	G	8: 71,812,526 (GRCm39)	D2099G	probably benign	Het
Nktr	T	A	9: 121,578,483 (GRCm39)	C825*	probably null	Het
Nomo1	A	G	7: 45,725,581 (GRCm39)	E1029G	probably benign	Het
Nup133	T	C	8: 124,633,020 (GRCm39)	D1037G	probably benign	Het
Or4b12	A	G	2: 90,095,959 (GRCm39)	F272L	probably damaging	Het
Or5w22	T	C	2: 87,363,178 (GRCm39)	L267P	probably benign	Het
Pcdhb14	T	A	18: 37,582,049 (GRCm39)	V385D	possibly damaging	Het
Pik3c2g	T	C	6: 139,682,733 (GRCm39)	L38P	probably damaging	Het
Pkd1	A	T	17: 24,788,345 (GRCm39)	D701V	probably damaging	Het
Pnpla6	A	G	8: 3,587,478 (GRCm39)	T1070A	probably damaging	Het
Ppl	T	C	16: 4,923,919 (GRCm39)	D185G	probably benign	Het
Prp2rt	C	A	13: 97,235,629 (GRCm39)	L39F	probably damaging	Het
Prss1l	C	T	6: 41,371,605 (GRCm39)	P17L	probably benign	Het
Prune1	A	T	3: 95,165,489 (GRCm39)	L261Q	probably damaging	Het
Qser1	A	T	2: 104,608,541 (GRCm39)	L1444I	probably damaging	Het
Serpina6	A	C	12: 103,620,726 (GRCm39)	C8G	probably damaging	Het
Sla2	A	T	2: 156,716,919 (GRCm39)	D180E	probably benign	Het
Slc4a4	C	T	5: 89,176,103 (GRCm39)	L25F	probably damaging	Het
Snhg16	A	T	11: 116,563,490 (GRCm39)	T27S	possibly damaging	Het
Tbx3	A	G	5: 119,816,796 (GRCm39)	K311R	possibly damaging	Het
Tdpoz6	A	G	3: 93,599,994 (GRCm39)	F125S	probably benign	Het
Thbs2	A	T	17: 14,910,099 (GRCm39)	C167S	probably damaging	Het
Trak1	T	A	9: 121,301,373 (GRCm39)	C710S	possibly damaging	Het
Tsks	G	A	7: 44,603,208 (GRCm39)	E337K	probably damaging	Het
Vcpip1	A	G	1: 9,816,604 (GRCm39)	I593T	probably damaging	Het
Vmn2r118	A	G	17: 55,899,765 (GRCm39)	I713T	possibly damaging	Het
Vmn2r23	C	T	6: 123,690,033 (GRCm39)	T303M	probably damaging	Het
Vmn2r68	A	T	7: 84,882,978 (GRCm39)	M258K	probably benign	Het
Vmn2r76	A	G	7: 85,895,202 (GRCm39)		probably null	Het
Wap	A	G	11: 6,588,609 (GRCm39)	I5T	possibly damaging	Het
Zfp235	A	C	7: 23,841,576 (GRCm39)	H665P	probably damaging	Het

Other mutations in Mrpl37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02292:Mrpl37	APN	4	106,917,729 (GRCm39)	missense	probably damaging	0.96
IGL02451:Mrpl37	APN	4	106,923,839 (GRCm39)	missense	probably damaging	1.00
R0088:Mrpl37	UTSW	4	106,921,621 (GRCm39)	missense	possibly damaging	0.65
R0271:Mrpl37	UTSW	4	106,923,658 (GRCm39)	missense	possibly damaging	0.80
R1445:Mrpl37	UTSW	4	106,921,692 (GRCm39)	missense	probably benign	0.00
R2566:Mrpl37	UTSW	4	106,921,690 (GRCm39)	missense	possibly damaging	0.95
R4751:Mrpl37	UTSW	4	106,914,672 (GRCm39)	missense	probably damaging	1.00
R5088:Mrpl37	UTSW	4	106,921,919 (GRCm39)	missense	probably damaging	1.00
R5870:Mrpl37	UTSW	4	106,923,919 (GRCm39)	missense	probably benign
R5996:Mrpl37	UTSW	4	106,923,704 (GRCm39)	missense	probably benign
R6163:Mrpl37	UTSW	4	106,921,793 (GRCm39)	missense	possibly damaging	0.94
R7287:Mrpl37	UTSW	4	106,917,717 (GRCm39)	missense	probably damaging	1.00
R8754:Mrpl37	UTSW	4	106,921,611 (GRCm39)	missense	probably benign	0.28
R9334:Mrpl37	UTSW	4	106,921,605 (GRCm39)	missense	probably benign	0.13
X0067:Mrpl37	UTSW	4	106,923,676 (GRCm39)	missense	possibly damaging	0.93
Z1176:Mrpl37	UTSW	4	106,914,623 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGATCACAAGTCTGAGGCC -3'
(R):5'- TCCTCCAGATAAGATAACTGAGGAG -3'

Sequencing Primer
(F):5'- GCCTGTGCTATGCAGTGAAG -3'
(R):5'- CCAGATAAGATAACTGAGGAGTGTTG -3'

Posted On

2016-11-09