Mutagenetix > Incidental Mutation

Incidental Mutation 'R5243:Rbmxl2'

400989

Institutional Source

Beutler Lab

Gene Symbol

Rbmxl2

Ensembl Gene

ENSMUSG00000073894

Gene Name

RNA binding motif protein, X-linked-like 2

Synonyms

1700012H05Rik

MMRRC Submission

042814-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

R5243 (G1)

Quality Score

108

Status

Validated

Chromosome

Chromosomal Location

106808652-106810123 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 106809044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 110 (G110R)

Ref Sequence

ENSEMBL: ENSMUSP00000095739 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098135]

AlphaFold

Q9DAE2

Predicted Effect

probably damaging
Transcript: ENSMUST00000098135
AA Change: G110R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095739
Gene: ENSMUSG00000073894
AA Change: G110R

Domain	Start	End	E-Value	Type
RRM	9	82	1.12e-26	SMART
low complexity region	91	125	N/A	INTRINSIC
Pfam:RBM1CTR	169	214	9.9e-21	PFAM
Blast:RRM	219	250	5e-11	BLAST
low complexity region	285	307	N/A	INTRINSIC
low complexity region	316	337	N/A	INTRINSIC
low complexity region	358	384	N/A	INTRINSIC

Meta Mutation Damage Score

0.1345

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

95% (62/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the HNRPG subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two RRM domains that bind RNAs. This gene is intronless and is thought to be derived from a processed retroposon. However, unlike many retroposon-derived genes, this gene is not a pseudogene. The encoded protein has similarity to HNRPG and RBMY proteins and it is suggested to replace HNRPG protein function during meiotic prophase or act as a germ cell-specific splicing regulator. It primarily localizes to the nuclei of meiotic spermatocytes. This gene is a candidate for autosomal male infertility. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	T	12: 72,956,543 (GRCm39)		probably null	Het
Aatk	A	G	11: 119,907,594 (GRCm39)	L78P	probably damaging	Het
Acadsb	T	A	7: 131,045,972 (GRCm39)	I412K	probably damaging	Het
Acer3	T	C	7: 97,867,277 (GRCm39)	R246G	possibly damaging	Het
Atp1a3	T	A	7: 24,693,994 (GRCm39)	I387F	probably damaging	Het
Atp6v1b2	A	T	8: 69,556,391 (GRCm39)	M300L	probably benign	Het
Aurkb	T	A	11: 68,936,752 (GRCm39)		probably benign	Het
Card10	C	A	15: 78,664,872 (GRCm39)	G694V	possibly damaging	Het
Ccdc171	A	G	4: 83,522,344 (GRCm39)	N336S	probably damaging	Het
Copg2	T	C	6: 30,750,626 (GRCm39)	T720A	probably benign	Het
Coro2a	A	T	4: 46,545,620 (GRCm39)	W272R	probably damaging	Het
Cpne6	T	A	14: 55,750,204 (GRCm39)	C112S	probably damaging	Het
Ddx21	A	G	10: 62,437,992 (GRCm39)	M1T	probably null	Het
Dohh	A	G	10: 81,223,203 (GRCm39)	R161G	probably benign	Het
Dsc1	A	C	18: 20,232,216 (GRCm39)	V264G	probably damaging	Het
E4f1	A	T	17: 24,666,292 (GRCm39)	C198S	probably damaging	Het
Evpl	T	A	11: 116,113,795 (GRCm39)	E1298D	probably damaging	Het
Grid2ip	A	T	5: 143,363,260 (GRCm39)	I246F	probably damaging	Het
H2-M1	A	G	17: 36,982,193 (GRCm39)	F136S	possibly damaging	Het
Hck	T	C	2: 152,986,412 (GRCm39)	V387A	probably damaging	Het
Hdac1	G	A	4: 129,410,646 (GRCm39)		probably benign	Het
Hydin	A	C	8: 111,232,380 (GRCm39)	Q1633P	possibly damaging	Het
Igkv12-41	A	G	6: 69,835,686 (GRCm39)	I22T	probably damaging	Het
Ints3	CA	CAA	3: 90,308,451 (GRCm39)		probably null	Het
Itpr2	C	G	6: 146,089,044 (GRCm39)	W2188C	probably damaging	Het
Kcnt1	A	G	2: 25,798,086 (GRCm39)	E899G	probably damaging	Het
Lgals8	C	A	13: 12,469,645 (GRCm39)	V12L	probably benign	Het
Lgr6	T	C	1: 135,037,010 (GRCm39)		probably benign	Het
Lrrc8b	T	G	5: 105,628,812 (GRCm39)	I386S	probably damaging	Het
Mks1	T	C	11: 87,747,504 (GRCm39)		probably benign	Het
Mon1b	A	G	8: 114,364,553 (GRCm39)	D110G	possibly damaging	Het
Mpdz	G	T	4: 81,225,116 (GRCm39)	A1437E	probably damaging	Het
Nbeal1	T	A	1: 60,309,487 (GRCm39)	N1753K	probably damaging	Het
Nceh1	T	C	3: 27,295,837 (GRCm39)	V366A	probably damaging	Het
Ncor1	A	T	11: 62,229,788 (GRCm39)	D893E	probably damaging	Het
Npc1	T	A	18: 12,331,688 (GRCm39)		probably benign	Het
Or1j15	T	C	2: 36,458,655 (GRCm39)	L15P	probably damaging	Het
Or9i1b	A	G	19: 13,897,025 (GRCm39)	I214V	probably damaging	Het
Podxl2	T	C	6: 88,826,356 (GRCm39)	T317A	probably benign	Het
Prl8a9	T	G	13: 27,746,446 (GRCm39)	Q54P	probably damaging	Het
Prpf31	C	T	7: 3,641,753 (GRCm39)	R351*	probably null	Het
Pspc1	C	T	14: 57,001,648 (GRCm39)	G242D	probably damaging	Het
Rif1	T	A	2: 52,001,836 (GRCm39)	H1763Q	possibly damaging	Het
Rpusd3	T	C	6: 113,395,025 (GRCm39)	T85A	probably benign	Het
Rttn	A	G	18: 89,126,187 (GRCm39)	I1853M	possibly damaging	Het
Sacs	T	A	14: 61,443,406 (GRCm39)	C1817*	probably null	Het
Scrib	A	T	15: 75,937,101 (GRCm39)	V335E	probably benign	Het
Sdk2	A	G	11: 113,715,912 (GRCm39)	L1549P	possibly damaging	Het
Slc25a11	C	T	11: 70,536,924 (GRCm39)	G44S	probably damaging	Het
Slc6a3	A	G	13: 73,719,570 (GRCm39)	Y533C	possibly damaging	Het
Slc7a5	A	G	8: 122,623,274 (GRCm39)	V191A	probably damaging	Het
Son	A	G	16: 91,451,621 (GRCm39)	K123E	probably damaging	Het
Tcstv3	T	A	13: 120,779,125 (GRCm39)	M8K	probably benign	Het
Tie1	A	G	4: 118,339,548 (GRCm39)	V411A	probably damaging	Het
Upk3bl	C	A	5: 136,088,977 (GRCm39)	D1E	possibly damaging	Het
Vmn2r5	T	C	3: 64,411,497 (GRCm39)	D357G	probably damaging	Het
Vmn2r75	T	C	7: 85,813,447 (GRCm39)	N452D	probably damaging	Het
Wnk2	T	A	13: 49,226,054 (GRCm39)	N1043I	possibly damaging	Het
Zfp407	A	T	18: 84,579,216 (GRCm39)	H632Q	probably damaging	Het
Zfp423	T	C	8: 88,500,275 (GRCm39)	K1174R	probably benign	Het

Other mutations in Rbmxl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03147:Rbmxl2	UTSW	7	106,808,858 (GRCm39)	missense	probably benign	0.00
R1958:Rbmxl2	UTSW	7	106,809,405 (GRCm39)	missense	probably benign	0.06
R2435:Rbmxl2	UTSW	7	106,809,538 (GRCm39)	missense	probably damaging	1.00
R3107:Rbmxl2	UTSW	7	106,809,624 (GRCm39)	missense	probably damaging	0.98
R5020:Rbmxl2	UTSW	7	106,809,414 (GRCm39)	missense	probably damaging	1.00
R5444:Rbmxl2	UTSW	7	106,809,044 (GRCm39)	missense	probably damaging	0.99
R8032:Rbmxl2	UTSW	7	106,809,429 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCGTCACCTTCGAGAACCC -3'
(R):5'- CATAGTCGCGGTAGGTGTAGTC -3'

Sequencing Primer
(F):5'- TTCGAGAACCCCGCGGAC -3'
(R):5'- TCGAATAGCTCTCCCGGG -3'

Posted On

2016-07-06