Mutagenetix > Incidental Mutation

Incidental Mutation 'R8429:Lrmp'

653645

Institutional Source

Beutler Lab

Gene Symbol

Lrmp

Ensembl Gene

ENSMUSG00000030263

Gene Name

lymphoid-restricted membrane protein

Synonyms

D6Int8, D6Int7, D6Int5, D6Int4, D6Int3, Jaw1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8429 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

145115653-145174934 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 145165223 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 251 (D251E)

Ref Sequence

ENSEMBL: ENSMUSP00000032396 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032396] [ENSMUST00000135984] [ENSMUST00000152571]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000032396
AA Change: D251E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032396
Gene: ENSMUSG00000030263
AA Change: D251E

Domain	Start	End	E-Value	Type
Pfam:MRVI1	10	539	3.2e-265	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132948
AA Change: D215E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000120248
Gene: ENSMUSG00000030263
AA Change: D215E

Domain	Start	End	E-Value	Type
Pfam:MRVI1	8	504	3.7e-248	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135984

Predicted Effect

probably benign
Transcript: ENSMUST00000152571

SMART Domains

Protein: ENSMUSP00000120166
Gene: ENSMUSG00000030263

Domain	Start	End	E-Value	Type
Pfam:MRVI1	9	198	2.2e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156849

SMART Domains

Protein: ENSMUSP00000115043
Gene: ENSMUSG00000030263

Domain	Start	End	E-Value	Type
Pfam:MRVI1	9	196	1.2e-74	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encode dby this gene is expressed in a developmentally regulated manner in lymphoid cell lines and tissues. The protein is localized to the cytoplasmic face of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	A	T	17: 48,037,066	L143*	probably null	Het
2900026A02Rik	T	C	5: 113,183,436	T971A	probably benign	Het
4932415D10Rik	G	T	10: 82,289,467	Q2570K	possibly damaging	Het
4933425L06Rik	A	G	13: 105,118,788	Y459C	probably damaging	Het
Abca6	A	T	11: 110,202,382	C1022S	probably benign	Het
Adgrf4	G	T	17: 42,667,449	N334K	probably benign	Het
Baz1b	A	G	5: 135,217,331	K545E	probably benign	Het
Bin3	A	G	14: 70,137,149	Y209C	probably damaging	Het
Btbd16	G	A	7: 130,795,337	A223T	probably benign	Het
C3	A	G	17: 57,222,811	V555A	probably damaging	Het
Calm3	T	A	7: 16,919,667		probably null	Het
Cct4	T	A	11: 22,996,030	L124Q	probably damaging	Het
Cenpf	C	T	1: 189,657,307	D1443N	possibly damaging	Het
Egfem1	G	A	3: 29,657,268		probably null	Het
Epha4	G	T	1: 77,390,036	Q591K	probably benign	Het
Fanci	T	C	7: 79,438,385	F929L	possibly damaging	Het
Fnip1	A	T	11: 54,475,696	D95V	possibly damaging	Het
Foxc1	A	T	13: 31,807,776	H190L	probably benign	Het
Gm45713	T	C	7: 45,136,116	S2G	unknown	Het
Grin2b	T	C	6: 135,733,916	I877M	probably damaging	Het
Hadha	T	C	5: 30,144,257	I119V	probably benign	Het
Hcar2	C	T	5: 123,865,475		probably benign	Het
Krt13	A	T	11: 100,121,125	L124Q	probably damaging	Het
Larp1b	A	G	3: 40,977,227	*336W	probably null	Het
Man2c1	T	C	9: 57,131,161	L35P	probably damaging	Het
Meioc	A	T	11: 102,674,206	N160I	probably benign	Het
Mfsd2b	G	T	12: 4,866,487	Q331K	possibly damaging	Het
Mical2	T	A	7: 112,345,253	V930E	probably benign	Het
Mrgprb4	A	T	7: 48,198,425	F252I	probably benign	Het
Nars	A	G	18: 64,501,320	Y511H	probably damaging	Het
Naxe	C	A	3: 88,058,152	S84I	probably damaging	Het
Ncam2	A	T	16: 81,589,635	D634V	probably damaging	Het
Npat	C	T	9: 53,570,609	Q1206*	probably null	Het
Nr1d2	G	A	14: 18,215,409	T201I	probably benign	Het
Nup155	C	T	15: 8,112,420	H99Y	probably damaging	Het
Olfr1130	G	T	2: 87,607,524	L45F	probably benign	Het
Olfr1289	G	A	2: 111,483,495	V50I	possibly damaging	Het
Olfr209	A	G	16: 59,361,627	V197A	possibly damaging	Het
Olfr826	A	G	10: 130,180,223	V219A	possibly damaging	Het
Pcnx3	C	T	19: 5,665,384	G1946E	probably damaging	Het
Pde6a	T	A	18: 61,232,844	Y214N	probably damaging	Het
Pex7	T	C	10: 19,894,328	T145A	probably damaging	Het
Plekhj1	C	T	10: 80,796,470	S146N	probably benign	Het
Ralgapb	C	T	2: 158,426,297	P107S	probably damaging	Het
Satb1	A	G	17: 51,767,950	M506T	probably damaging	Het
Sh3gl1	T	C	17: 56,018,821	N203D	possibly damaging	Het
Slc7a12	A	T	3: 14,497,282	I240F	probably benign	Het
Syt17	T	A	7: 118,434,341	Y144F	probably benign	Het
Thbd	G	T	2: 148,407,537	T137K	possibly damaging	Het
Tmem114	A	G	16: 8,412,167	F124L	probably damaging	Het
Ubtd1	G	T	19: 42,032,117		probably null	Het
Zfp458	A	G	13: 67,258,088	Y96H	possibly damaging	Het
Zfp78	T	C	7: 6,378,493	S181P	probably benign	Het

Other mutations in Lrmp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00918:Lrmp	APN	6	145167994	missense	probably damaging	1.00
IGL01066:Lrmp	APN	6	145160955	missense	probably damaging	1.00
IGL01877:Lrmp	APN	6	145147799	missense	probably damaging	0.99
IGL02154:Lrmp	APN	6	145138241	missense	possibly damaging	0.92
IGL02727:Lrmp	APN	6	145174618	missense	possibly damaging	0.78
FR4976:Lrmp	UTSW	6	145173785	unclassified	probably benign
R0238:Lrmp	UTSW	6	145171978	unclassified	probably benign
R0239:Lrmp	UTSW	6	145171978	unclassified	probably benign
R0454:Lrmp	UTSW	6	145167984	missense	possibly damaging	0.73
R0485:Lrmp	UTSW	6	145165212	missense	probably damaging	1.00
R0487:Lrmp	UTSW	6	145165260	missense	probably benign	0.02
R0554:Lrmp	UTSW	6	145165287	missense	probably benign	0.01
R0634:Lrmp	UTSW	6	145174628	missense	probably damaging	0.98
R1440:Lrmp	UTSW	6	145174511	missense	possibly damaging	0.77
R1574:Lrmp	UTSW	6	145158630	splice site	probably benign
R1697:Lrmp	UTSW	6	145137615	splice site	probably benign
R1968:Lrmp	UTSW	6	145169773	missense	probably damaging	0.98
R3735:Lrmp	UTSW	6	145160870	splice site	probably benign
R3736:Lrmp	UTSW	6	145160870	splice site	probably benign
R4643:Lrmp	UTSW	6	145168060	missense	probably benign	0.17
R4812:Lrmp	UTSW	6	145148011	missense	probably damaging	1.00
R4916:Lrmp	UTSW	6	145165301	missense	probably damaging	1.00
R5183:Lrmp	UTSW	6	145138220	missense	probably benign	0.23
R5845:Lrmp	UTSW	6	145171666	missense	probably benign	0.00
R6701:Lrmp	UTSW	6	145144976	nonsense	probably null
R6735:Lrmp	UTSW	6	145160893	missense	probably damaging	1.00
R7083:Lrmp	UTSW	6	145169783	missense	probably damaging	1.00
R7317:Lrmp	UTSW	6	145158698	missense	possibly damaging	0.93
R7468:Lrmp	UTSW	6	145173701	splice site	probably null
R8485:Lrmp	UTSW	6	145171674	missense	probably damaging	1.00
R8779:Lrmp	UTSW	6	145138199	missense	probably benign	0.00
R8955:Lrmp	UTSW	6	145171664	missense	probably benign
R9034:Lrmp	UTSW	6	145137547	missense	probably benign
R9487:Lrmp	UTSW	6	145174531	missense	probably benign	0.00
R9488:Lrmp	UTSW	6	145168027	missense	probably damaging	1.00
R9676:Lrmp	UTSW	6	145174612	missense	probably damaging	1.00
RF003:Lrmp	UTSW	6	145173783	unclassified	probably benign
RF015:Lrmp	UTSW	6	145173783	unclassified	probably benign
RF017:Lrmp	UTSW	6	145173784	unclassified	probably benign
RF027:Lrmp	UTSW	6	145173790	unclassified	probably benign
RF029:Lrmp	UTSW	6	145173790	unclassified	probably benign
RF030:Lrmp	UTSW	6	145173788	unclassified	probably benign
RF030:Lrmp	UTSW	6	145173790	unclassified	probably benign
RF038:Lrmp	UTSW	6	145173790	unclassified	probably benign
RF043:Lrmp	UTSW	6	145173790	unclassified	probably benign
RF044:Lrmp	UTSW	6	145173790	unclassified	probably benign
RF048:Lrmp	UTSW	6	145173784	unclassified	probably benign
RF052:Lrmp	UTSW	6	145160531	critical splice acceptor site	probably benign
RF054:Lrmp	UTSW	6	145173788	unclassified	probably benign
RF055:Lrmp	UTSW	6	145173785	unclassified	probably benign
Z1177:Lrmp	UTSW	6	145148074	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACCCAACACAGGTAGTCGTC -3'
(R):5'- TAGCCTATGTGACTTAGGGGAG -3'

Sequencing Primer
(F):5'- ACACAGGTAGTCGTCATCACTGG -3'
(R):5'- CCTATGTGACTTAGGGGAGAAAGGC -3'

Posted On

2020-10-20