Mutagenetix > Incidental Mutation

Incidental Mutation 'R0401:Pom121l2'

38243

Institutional Source

Beutler Lab

Gene Symbol

Pom121l2

Ensembl Gene

ENSMUSG00000016982

Gene Name

POM121 membrane glycoprotein-like 2 (rat)

Synonyms

LOC195236

MMRRC Submission

038606-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R0401 (G1)

Quality Score

195

Status

Validated

Chromosome

Chromosomal Location

21981194-21988734 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21982225 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 222 (D222V)

Ref Sequence

ENSEMBL: ENSMUSP00000017126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017126] [ENSMUST00000117882]

AlphaFold

Q5SW25

Predicted Effect

probably benign
Transcript: ENSMUST00000017126
AA Change: D222V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000017126
Gene: ENSMUSG00000016982
AA Change: D222V

Domain	Start	End	E-Value	Type
low complexity region	42	60	N/A	INTRINSIC
Pfam:POM121	162	301	3.5e-24	PFAM
low complexity region	367	379	N/A	INTRINSIC
low complexity region	413	433	N/A	INTRINSIC
low complexity region	517	526	N/A	INTRINSIC
low complexity region	558	572	N/A	INTRINSIC
low complexity region	697	712	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117882
AA Change: D222V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000113688
Gene: ENSMUSG00000016982
AA Change: D222V

Domain	Start	End	E-Value	Type
low complexity region	42	60	N/A	INTRINSIC
Pfam:POM121	162	301	2e-24	PFAM
low complexity region	367	379	N/A	INTRINSIC
low complexity region	413	433	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.6%

Validation Efficiency

98% (90/92)

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 138,070,306	H1752L	possibly damaging	Het
8030462N17Rik	C	A	18: 77,673,962	S218I	probably damaging	Het
A530099J19Rik	A	T	13: 19,729,494		noncoding transcript	Het
Abcc5	T	C	16: 20,376,558	K730E	probably benign	Het
Ahnak	A	G	19: 9,015,116	D4588G	probably benign	Het
AI467606	G	A	7: 127,092,436	R61H	probably damaging	Het
Apoa4	T	A	9: 46,243,058	V319E	probably damaging	Het
Atad5	T	A	11: 80,120,699	D1297E	probably benign	Het
BC005624	G	A	2: 30,980,009	T62I	probably benign	Het
Bcl6	T	C	16: 23,972,594	K337E	probably damaging	Het
Cad	T	A	5: 31,073,986		probably benign	Het
Ccdc73	T	C	2: 104,991,289	S528P	probably benign	Het
Ccng2	T	G	5: 93,273,413	C261G	possibly damaging	Het
Cdh11	A	T	8: 102,674,006	I110N	probably damaging	Het
Cgnl1	A	G	9: 71,705,239	V767A	probably damaging	Het
Cit	A	G	5: 115,985,479	T1460A	probably benign	Het
Clec4b2	C	T	6: 123,181,300	Q42*	probably null	Het
Clip1	A	G	5: 123,653,789	V106A	probably damaging	Het
Crb1	T	C	1: 139,198,791		probably benign	Het
Cts6	T	C	13: 61,198,339		probably benign	Het
Cul9	T	C	17: 46,541,704	E244G	probably damaging	Het
Ddx55	A	T	5: 124,567,951	I480F	probably damaging	Het
Dixdc1	A	G	9: 50,693,674	S17P	possibly damaging	Het
Drosha	T	A	15: 12,926,031	Y1235*	probably null	Het
Dsg2	G	T	18: 20,592,508		probably benign	Het
E2f5	T	C	3: 14,579,025		probably null	Het
Epc2	A	G	2: 49,528,974	T265A	probably damaging	Het
Etaa1	T	G	11: 17,947,514	D201A	probably damaging	Het
Fancd2	T	C	6: 113,548,343	I260T	possibly damaging	Het
Fhdc1	G	A	3: 84,444,624	A1098V	probably benign	Het
Gm17689	G	T	9: 36,582,628	A3E	unknown	Het
Gm7030	C	T	17: 36,128,705	V128M	probably damaging	Het
Gpd2	G	A	2: 57,340,093	V286I	possibly damaging	Het
Herc2	A	C	7: 56,157,732	E2523A	probably damaging	Het
Jmjd1c	G	A	10: 67,220,382	R527H	probably damaging	Het
Kif12	G	A	4: 63,169,525		probably benign	Het
Lrp2	A	T	2: 69,479,148	N2802K	probably damaging	Het
Mab21l2	C	G	3: 86,546,989	G235R	probably benign	Het
Mapk8	T	C	14: 33,382,208	E417G	probably benign	Het
Mapk8ip3	G	A	17: 24,909,171		probably benign	Het
Mettl1	A	G	10: 127,045,077	T203A	probably benign	Het
Mettl9	T	C	7: 121,076,313	V312A	probably damaging	Het
Mex3d	A	G	10: 80,386,894	V176A	probably benign	Het
Mmp3	T	C	9: 7,449,790	S225P	probably damaging	Het
Mrvi1	G	A	7: 110,876,897	P757S	probably benign	Het
Neb	G	A	2: 52,188,677		probably benign	Het
Ninj2	C	T	6: 120,198,051	A51V	possibly damaging	Het
Nle1	A	G	11: 82,905,379		probably benign	Het
Nol9	T	C	4: 152,052,605	Y532H	probably benign	Het
Nr2c1	T	A	10: 94,171,158	V286E	probably benign	Het
Olfr1183	T	G	2: 88,461,925	L195R	probably damaging	Het
Olfr1272	A	T	2: 90,282,404	M57K	probably damaging	Het
Olfr308	T	C	7: 86,321,292	Y220C	probably benign	Het
Olfr481	T	A	7: 108,080,872	I26N	possibly damaging	Het
Olfr670	T	A	7: 104,959,943	H263L	probably damaging	Het
Olfr816	A	G	10: 129,911,916	Y121H	probably benign	Het
Olfr827	A	G	10: 130,210,620	L170P	probably damaging	Het
Ovch2	A	T	7: 107,801,136	V15D	probably damaging	Het
Pclo	T	G	5: 14,681,734	S3417A	unknown	Het
Pet2	C	A	X: 89,405,209	R438L	probably benign	Het
Pex1	T	A	5: 3,633,759	M1085K	probably damaging	Het
Plscr2	T	C	9: 92,282,135	S6P	probably benign	Het
Pogz	C	T	3: 94,877,025	P722S	possibly damaging	Het
Prpf40a	T	C	2: 53,159,313	Y179C	probably damaging	Het
R3hdm2	A	G	10: 127,458,173	I179V	possibly damaging	Het
Ranbp9	A	C	13: 43,422,658	V355G	probably damaging	Het
Rims2	T	C	15: 39,509,632		probably benign	Het
Ryr2	A	T	13: 11,705,684	S2693T	probably benign	Het
Sbno1	G	A	5: 124,410,285	T111I	probably damaging	Het
Sdk1	A	C	5: 142,046,161	N997T	possibly damaging	Het
Setx	G	T	2: 29,166,289	E39*	probably null	Het
Skint7	T	A	4: 111,980,362	N112K	probably damaging	Het
Slc35e1	T	C	8: 72,492,571		probably benign	Het
Slc4a10	A	T	2: 62,190,848	D80V	probably benign	Het
Susd2	C	A	10: 75,638,603		probably benign	Het
Tcam1	G	A	11: 106,284,078	E120K	probably benign	Het
Tcf3	G	T	10: 80,421,158	S77R	probably damaging	Het
Tdpoz3	T	C	3: 93,826,365	Y116H	probably benign	Het
Tex26	C	A	5: 149,460,858	D164E	probably benign	Het
Thoc5	G	A	11: 4,902,213		probably benign	Het
Tiparp	A	G	3: 65,531,436	R58G	probably benign	Het
Trim66	A	T	7: 109,475,264	C597S	probably damaging	Het
Ugt2a3	T	A	5: 87,336,490	Q225L	probably benign	Het
Vmn1r25	T	A	6: 57,978,711	I198L	probably benign	Het
Vmn2r106	A	T	17: 20,279,019	V210D	possibly damaging	Het
Vmn2r124	T	C	17: 18,064,145	F483L	probably damaging	Het
Vmn2r78	A	G	7: 86,921,311	K346E	probably benign	Het
Zfhx4	T	A	3: 5,401,161	S2126R	possibly damaging	Het
Zfp608	C	T	18: 54,898,994	G625R	probably benign	Het
Zkscan5	A	G	5: 145,212,575	D234G	probably damaging	Het
Zscan10	T	A	17: 23,605,915	V115E	probably damaging	Het

Other mutations in Pom121l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02104:Pom121l2	APN	13	21982275	missense	possibly damaging	0.70
IGL02223:Pom121l2	APN	13	21982095	missense	probably benign	0.01
R0402:Pom121l2	UTSW	13	21988479	splice site	probably benign
R0437:Pom121l2	UTSW	13	21983205	missense	possibly damaging	0.72
R0575:Pom121l2	UTSW	13	21984168	missense	probably damaging	0.99
R0605:Pom121l2	UTSW	13	21982036	missense	probably damaging	1.00
R0892:Pom121l2	UTSW	13	21982474	missense	possibly damaging	0.49
R0992:Pom121l2	UTSW	13	21982759	missense	probably benign	0.01
R1259:Pom121l2	UTSW	13	21982127	nonsense	probably null
R1564:Pom121l2	UTSW	13	21983353	missense	possibly damaging	0.86
R1603:Pom121l2	UTSW	13	21983344	missense	probably damaging	1.00
R1836:Pom121l2	UTSW	13	21983784	missense	probably benign	0.03
R1970:Pom121l2	UTSW	13	21983472	missense	probably damaging	0.98
R2018:Pom121l2	UTSW	13	21982734	missense	possibly damaging	0.54
R2180:Pom121l2	UTSW	13	21981975	missense	probably benign	0.08
R2277:Pom121l2	UTSW	13	21984247	missense	probably benign
R2365:Pom121l2	UTSW	13	21983784	missense	probably benign	0.20
R3951:Pom121l2	UTSW	13	21982128	missense	probably damaging	1.00
R4371:Pom121l2	UTSW	13	21982239	missense	probably benign	0.01
R4574:Pom121l2	UTSW	13	21984402	missense	probably benign	0.02
R4593:Pom121l2	UTSW	13	21984453	missense	probably damaging	1.00
R4983:Pom121l2	UTSW	13	21983814	missense	probably benign	0.02
R5320:Pom121l2	UTSW	13	21981845	nonsense	probably null
R5661:Pom121l2	UTSW	13	21984255	missense	possibly damaging	0.90
R5662:Pom121l2	UTSW	13	21982188	missense	probably benign	0.01
R5908:Pom121l2	UTSW	13	21981814	missense	probably damaging	0.99
R5980:Pom121l2	UTSW	13	21983376	missense	probably damaging	0.96
R6145:Pom121l2	UTSW	13	21982302	nonsense	probably null
R6160:Pom121l2	UTSW	13	21983668	missense	possibly damaging	0.52
R6327:Pom121l2	UTSW	13	21982332	missense	probably damaging	1.00
R6504:Pom121l2	UTSW	13	21983461	missense	possibly damaging	0.55
R6745:Pom121l2	UTSW	13	21983698	missense	probably benign	0.00
R6750:Pom121l2	UTSW	13	21981937	missense	probably damaging	1.00
R6752:Pom121l2	UTSW	13	21981769	missense	probably damaging	0.99
R6796:Pom121l2	UTSW	13	21983524	missense	probably benign	0.09
R6984:Pom121l2	UTSW	13	21982021	missense	probably benign	0.33
R7284:Pom121l2	UTSW	13	21982605	missense	probably damaging	1.00
R7287:Pom121l2	UTSW	13	21984332	missense	probably benign	0.16
R7568:Pom121l2	UTSW	13	21982626	missense	probably benign	0.03
R7624:Pom121l2	UTSW	13	21983529	missense	probably damaging	0.97
R7832:Pom121l2	UTSW	13	21983878	missense	possibly damaging	0.49
R7956:Pom121l2	UTSW	13	21983146	missense	probably damaging	1.00
R8103:Pom121l2	UTSW	13	21982374	missense	probably benign	0.00
R8506:Pom121l2	UTSW	13	21983619	missense	probably benign	0.04
R9167:Pom121l2	UTSW	13	21982990	missense	probably damaging	0.97
R9313:Pom121l2	UTSW	13	21984336	missense	probably benign	0.09
R9332:Pom121l2	UTSW	13	21981682	missense	probably damaging	1.00
R9463:Pom121l2	UTSW	13	21984232	missense	probably benign	0.18
Z1177:Pom121l2	UTSW	13	21988486	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACATGGAGTCCGGTGACAGTCAAG -3'
(R):5'- TGGCAAGGTATAGTTAGCAGGTCCC -3'

Sequencing Primer
(F):5'- GTCTCAAGAGTGGTGAACTCC -3'
(R):5'- AGGTGAGAATTAGGACTCTCTCC -3'

Posted On

2013-05-23