Mutagenetix > Incidental Mutation

Incidental Mutation 'R2248:Mal2'

240983

Institutional Source

Beutler Lab

Gene Symbol

Mal2

Ensembl Gene

ENSMUSG00000024479

Gene Name

mal, T cell differentiation protein 2

Synonyms

MMRRC Submission

040248-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R2248 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54434762-54466242 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54451732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 51 (I51N)

Ref Sequence

ENSEMBL: ENSMUSP00000025356 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025356]

AlphaFold

Q8BI08

Predicted Effect

probably damaging
Transcript: ENSMUST00000025356
AA Change: I51N

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

SMART Domains

Protein: ENSMUSP00000025356
Gene: ENSMUSG00000024479
AA Change: I51N

Domain	Start	End	E-Value	Type
low complexity region	2	20	N/A	INTRINSIC
Pfam:MARVEL	30	168	4.4e-20	PFAM

Meta Mutation Damage Score

0.3215

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multispan transmembrane protein belonging to the MAL proteolipid family. The protein is a component of lipid rafts and, in polarized cells, it primarily localizes to endosomal structures beneath the apical membrane. It is required for transcytosis, an intracellular transport pathway used to deliver membrane-bound proteins and exogenous cargos from the basolateral to the apical surface. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,323,476 (GRCm39)		probably benign	Het
Afp	A	G	5: 90,649,429 (GRCm39)	D332G	probably damaging	Het
AI593442	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGA	9: 52,589,114 (GRCm39)		probably benign	Het
Aldh1a2	A	T	9: 71,123,144 (GRCm39)	I6F	possibly damaging	Het
Alg6	C	T	4: 99,626,444 (GRCm39)	A84V	probably damaging	Het
Ank	T	A	15: 27,562,797 (GRCm39)		probably null	Het
Ano5	A	T	7: 51,243,537 (GRCm39)	M837L	probably benign	Het
Arl8b	A	G	6: 108,760,304 (GRCm39)	Y30C	probably benign	Het
Bfsp1	A	T	2: 143,669,572 (GRCm39)		probably null	Het
Cdhr1	C	G	14: 36,803,334 (GRCm39)	V581L	probably benign	Het
Chst8	G	T	7: 34,447,597 (GRCm39)	T7K	probably damaging	Het
Clca3b	T	C	3: 144,530,980 (GRCm39)	K790R	probably benign	Het
Clta	A	G	4: 44,012,852 (GRCm39)	N21D	probably damaging	Het
Col6a4	T	G	9: 105,957,158 (GRCm39)	E222A	probably benign	Het
Dcc	G	T	18: 71,959,239 (GRCm39)	Q178K	probably benign	Het
Dpysl3	T	C	18: 43,491,358 (GRCm39)	D140G	possibly damaging	Het
Dthd1	A	T	5: 63,007,243 (GRCm39)	D648V	probably damaging	Het
Eva1c	A	G	16: 90,628,213 (GRCm39)	N18S	probably benign	Het
Flnc	A	G	6: 29,451,400 (GRCm39)	H1538R	probably damaging	Het
Foxn3	T	C	12: 99,162,815 (GRCm39)	E362G	probably benign	Het
Frk	C	A	10: 34,484,527 (GRCm39)	T500K	probably benign	Het
Glipr1l1	A	G	10: 111,898,192 (GRCm39)	E99G	probably benign	Het
Gphn	T	C	12: 78,501,595 (GRCm39)	L120P	probably damaging	Het
Gpr152	T	C	19: 4,193,805 (GRCm39)	S449P	probably benign	Het
Greb1	T	A	12: 16,730,379 (GRCm39)	I1655F	possibly damaging	Het
Hectd1	G	T	12: 51,853,254 (GRCm39)	T89N	probably damaging	Het
Helz2	A	C	2: 180,875,226 (GRCm39)	I1756S	probably benign	Het
Hydin	G	T	8: 111,304,835 (GRCm39)	R3825L	probably benign	Het
Ifi207	G	A	1: 173,564,036 (GRCm39)		probably benign	Het
Itpr3	A	T	17: 27,334,033 (GRCm39)	E2035V	probably damaging	Het
Khnyn	T	A	14: 56,124,195 (GRCm39)	S150T	probably benign	Het
Kif21b	T	C	1: 136,100,704 (GRCm39)	I1595T	probably damaging	Het
Lgsn	A	T	1: 31,242,607 (GRCm39)	T230S	possibly damaging	Het
Limch1	G	T	5: 67,201,742 (GRCm39)	G838V	probably damaging	Het
Lrp2	T	A	2: 69,341,354 (GRCm39)	D942V	probably damaging	Het
Lrrc31	T	A	3: 30,744,050 (GRCm39)	T153S	possibly damaging	Het
Matcap2	A	G	9: 22,355,410 (GRCm39)	T482A	probably benign	Het
Mroh2a	T	C	1: 88,184,476 (GRCm39)	V1453A	probably benign	Het
Mycbp2	T	A	14: 103,407,295 (GRCm39)	Q385L	possibly damaging	Het
Nav3	T	A	10: 109,532,088 (GRCm39)	D2117V	probably damaging	Het
Ntn1	T	C	11: 68,168,398 (GRCm39)	N353S	possibly damaging	Het
Oas1c	T	C	5: 120,940,926 (GRCm39)	E289G	possibly damaging	Het
Or2m13	A	G	16: 19,225,944 (GRCm39)	V274A	probably damaging	Het
Or4a81	C	A	2: 89,619,524 (GRCm39)	M57I	possibly damaging	Het
Or5w17	T	C	2: 87,584,287 (GRCm39)	I17V	probably null	Het
Plk1	A	G	7: 121,768,044 (GRCm39)		probably benign	Het
Pms2	G	A	5: 143,853,324 (GRCm39)	V230M	probably damaging	Het
Pole3	C	A	4: 62,443,250 (GRCm39)		probably benign	Het
Ppp2r5c	T	C	12: 110,452,357 (GRCm39)	F22S	probably benign	Het
Prp2rt	C	A	13: 97,235,406 (GRCm39)	V114F	possibly damaging	Het
Ptcd3	A	T	6: 71,871,269 (GRCm39)		probably null	Het
Ptprq	A	T	10: 107,478,931 (GRCm39)		probably null	Het
Rab18	T	A	18: 6,788,629 (GRCm39)	C199S	probably damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Sacs	A	G	14: 61,450,251 (GRCm39)	N4099S	probably damaging	Het
Sh3yl1	T	A	12: 30,992,869 (GRCm39)		probably null	Het
Slco1c1	T	A	6: 141,492,415 (GRCm39)	I217N	probably damaging	Het
Syne2	C	T	12: 76,143,678 (GRCm39)	T6241I	probably damaging	Het
Tas2r119	T	C	15: 32,178,297 (GRCm39)	F288L	possibly damaging	Het
Tmod2	G	T	9: 75,499,931 (GRCm39)	T107N	probably benign	Het
Trappc6b	T	C	12: 59,097,167 (GRCm39)	T52A	probably damaging	Het
Tsen54	A	G	11: 115,706,232 (GRCm39)	E122G	probably damaging	Het
Tspear	A	G	10: 77,709,103 (GRCm39)	N443S	probably damaging	Het
Unc80	A	G	1: 66,662,365 (GRCm39)		probably benign	Het
Virma	T	A	4: 11,518,927 (GRCm39)	Y725N	probably damaging	Het
Vwa7	G	A	17: 35,238,019 (GRCm39)	D207N	probably benign	Het

Other mutations in Mal2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01919:Mal2	APN	15	54,451,728 (GRCm39)	missense	probably damaging	1.00
IGL01960:Mal2	APN	15	54,461,941 (GRCm39)	nonsense	probably null
IGL02647:Mal2	APN	15	54,451,833 (GRCm39)	missense	probably damaging	0.96
R1772:Mal2	UTSW	15	54,451,783 (GRCm39)	missense	probably damaging	0.99
R2015:Mal2	UTSW	15	54,464,136 (GRCm39)	makesense	probably null
R4496:Mal2	UTSW	15	54,461,835 (GRCm39)	missense	probably damaging	0.96
R6190:Mal2	UTSW	15	54,434,794 (GRCm39)	start gained	probably benign
R6275:Mal2	UTSW	15	54,435,035 (GRCm39)	critical splice donor site	probably null
R6862:Mal2	UTSW	15	54,451,753 (GRCm39)	missense	probably damaging	1.00
R8560:Mal2	UTSW	15	54,461,826 (GRCm39)	missense	probably benign
R9037:Mal2	UTSW	15	54,434,939 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCTTCAGGTCAGAATGGGAG -3'
(R):5'- AGTCGTGGGCACTTCTGAAC -3'

Sequencing Primer
(F):5'- TTCAGGTCAGAATGGGAGAGCAATG -3'
(R):5'- TGGGCACTTCTGAACAGAGTG -3'

Posted On

2014-10-15