Mutagenetix > Incidental Mutation

Incidental Mutation 'R2180:Pom121l2'

237148

Institutional Source

Beutler Lab

Gene Symbol

Pom121l2

Ensembl Gene

ENSMUSG00000016982

Gene Name

POM121 transmembrane nucleoporin like 2

Synonyms

LOC195236

MMRRC Submission

040182-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R2180 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22165364-22172904 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22166145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 139 (N139D)

Ref Sequence

ENSEMBL: ENSMUSP00000113688 (fasta)

Gene Model

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

AlphaFold

Q5SW25

Predicted Effect

probably benign
Transcript: ENSMUST00000017126
AA Change: N139D

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000017126
Gene: ENSMUSG00000016982
AA Change: N139D

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: N139D

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000113688
Gene: ENSMUSG00000016982
AA Change: N139D

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	T	C	16: 85,684,812 (GRCm39)	D377G	probably damaging	Het
Adgrl4	A	T	3: 151,205,779 (GRCm39)	I164F	probably damaging	Het
Anxa9	T	C	3: 95,213,735 (GRCm39)		probably null	Het
Aox4	A	T	1: 58,252,226 (GRCm39)	T34S	probably benign	Het
Asic1	G	T	15: 99,569,846 (GRCm39)	V56F	probably benign	Het
Atpaf1	T	C	4: 115,645,557 (GRCm39)	M1T	probably null	Het
Axin1	A	G	17: 26,362,309 (GRCm39)	T218A	probably benign	Het
Bdp1	ATTCTTCTTCTTCTTCTTC	ATTCTTCTTCTTCTTCTTCTTC	13: 100,197,913 (GRCm39)		probably benign	Het
Birc6	T	C	17: 74,919,146 (GRCm39)	I1988T	probably benign	Het
Btbd7	A	T	12: 102,752,156 (GRCm39)	D869E	probably damaging	Het
Caln1	T	C	5: 130,868,249 (GRCm39)	*220Q	probably null	Het
Ccdc150	G	A	1: 54,311,706 (GRCm39)		probably null	Het
Ccnt1	A	T	15: 98,441,481 (GRCm39)	S596T	possibly damaging	Het
Cd44	C	T	2: 102,658,955 (GRCm39)	G640E	possibly damaging	Het
Cep192	A	G	18: 67,957,813 (GRCm39)	E582G	possibly damaging	Het
Clcnkb	G	T	4: 141,136,819 (GRCm39)		probably null	Het
Dhx29	T	C	13: 113,099,406 (GRCm39)		probably null	Het
Dnah8	T	C	17: 31,059,621 (GRCm39)	F4407S	probably benign	Het
Enah	A	T	1: 181,746,024 (GRCm39)	M419K	probably damaging	Het
Fancd2	A	T	6: 113,551,598 (GRCm39)	T1055S	probably benign	Het
Gigyf2	G	A	1: 87,344,642 (GRCm39)	G525D	probably damaging	Het
Gm5800	T	A	14: 51,953,451 (GRCm39)	K55*	probably null	Het
Gpr149	A	G	3: 62,511,489 (GRCm39)	L170P	probably damaging	Het
Grik4	A	T	9: 42,453,301 (GRCm39)	Y695N	probably benign	Het
Gsg1	A	T	6: 135,217,143 (GRCm39)	V228D	probably damaging	Het
Helb	G	A	10: 119,941,353 (GRCm39)	T445M	probably benign	Het
Helz2	A	T	2: 180,875,525 (GRCm39)	D1656E	probably damaging	Het
Hyou1	A	T	9: 44,299,316 (GRCm39)	K669M	probably benign	Het
Itga2	T	C	13: 114,985,917 (GRCm39)	N953D	possibly damaging	Het
Ldhd	T	C	8: 112,356,018 (GRCm39)	I122V	probably benign	Het
Lrrtm1	A	G	6: 77,221,329 (GRCm39)	D262G	probably damaging	Het
Mapkapk5	T	C	5: 121,673,927 (GRCm39)		probably null	Het
Msantd5l	C	A	11: 51,145,437 (GRCm39)	W50L	probably damaging	Het
Niban1	A	T	1: 151,593,829 (GRCm39)	H838L	probably benign	Het
Numa1	T	C	7: 101,649,197 (GRCm39)	I976T	probably benign	Het
Or10x1	A	G	1: 174,196,967 (GRCm39)	I161M	probably damaging	Het
Or2a12	C	T	6: 42,904,459 (GRCm39)	T98I	probably benign	Het
Or4f14b	A	G	2: 111,775,348 (GRCm39)	V151A	probably benign	Het
Or52e4	T	C	7: 104,706,092 (GRCm39)	I213T	probably benign	Het
Patj	G	A	4: 98,411,739 (GRCm39)		probably null	Het
Pfas	T	C	11: 68,883,013 (GRCm39)	D757G	possibly damaging	Het
Ppp2r3d	A	T	9: 101,004,214 (GRCm39)	Y994*	probably null	Het
Ppp6c	T	C	2: 39,087,525 (GRCm39)	D227G	probably benign	Het
Ptpn13	T	G	5: 103,717,424 (GRCm39)	H1855Q	probably damaging	Het
Ptprh	T	A	7: 4,604,867 (GRCm39)	Q59L	probably benign	Het
Rap1gap2	T	C	11: 74,283,972 (GRCm39)	K669E	probably benign	Het
Rbl2	T	C	8: 91,816,683 (GRCm39)	S348P	possibly damaging	Het
Rptor	T	A	11: 119,615,970 (GRCm39)	N161K	probably damaging	Het
Satb1	C	T	17: 52,110,524 (GRCm39)	A192T	probably damaging	Het
Scn5a	A	G	9: 119,345,117 (GRCm39)	V1083A	probably benign	Het
Sec14l2	C	T	11: 4,058,964 (GRCm39)	A194T	probably damaging	Het
Sema4b	A	G	7: 79,862,583 (GRCm39)	N53S	probably benign	Het
Sin3b	T	A	8: 73,479,923 (GRCm39)	Y876*	probably null	Het
Smchd1	C	A	17: 71,770,794 (GRCm39)	M129I	probably benign	Het
Spmip6	T	A	4: 41,507,170 (GRCm39)	M209L	probably benign	Het
Tmc1	T	C	19: 20,801,448 (GRCm39)	Y484C	probably damaging	Het
Utp20	A	G	10: 88,656,801 (GRCm39)	S135P	probably damaging	Het
Zfp266	A	T	9: 20,410,975 (GRCm39)	C401S	probably damaging	Het
Zfp738	G	A	13: 67,819,313 (GRCm39)	T226I	probably damaging	Het
Zfp871	G	A	17: 32,994,275 (GRCm39)	T300M	probably damaging	Het

Other mutations in Pom121l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02104:Pom121l2	APN	13	22,166,445 (GRCm39)	missense	possibly damaging	0.70
IGL02223:Pom121l2	APN	13	22,166,265 (GRCm39)	missense	probably benign	0.01
R0401:Pom121l2	UTSW	13	22,166,395 (GRCm39)	missense	probably benign	0.01
R0402:Pom121l2	UTSW	13	22,172,649 (GRCm39)	splice site	probably benign
R0437:Pom121l2	UTSW	13	22,167,375 (GRCm39)	missense	possibly damaging	0.72
R0575:Pom121l2	UTSW	13	22,168,338 (GRCm39)	missense	probably damaging	0.99
R0605:Pom121l2	UTSW	13	22,166,206 (GRCm39)	missense	probably damaging	1.00
R0892:Pom121l2	UTSW	13	22,166,644 (GRCm39)	missense	possibly damaging	0.49
R0992:Pom121l2	UTSW	13	22,166,929 (GRCm39)	missense	probably benign	0.01
R1259:Pom121l2	UTSW	13	22,166,297 (GRCm39)	nonsense	probably null
R1564:Pom121l2	UTSW	13	22,167,523 (GRCm39)	missense	possibly damaging	0.86
R1603:Pom121l2	UTSW	13	22,167,514 (GRCm39)	missense	probably damaging	1.00
R1836:Pom121l2	UTSW	13	22,167,954 (GRCm39)	missense	probably benign	0.03
R1970:Pom121l2	UTSW	13	22,167,642 (GRCm39)	missense	probably damaging	0.98
R2018:Pom121l2	UTSW	13	22,166,904 (GRCm39)	missense	possibly damaging	0.54
R2277:Pom121l2	UTSW	13	22,168,417 (GRCm39)	missense	probably benign
R2365:Pom121l2	UTSW	13	22,167,954 (GRCm39)	missense	probably benign	0.20
R3951:Pom121l2	UTSW	13	22,166,298 (GRCm39)	missense	probably damaging	1.00
R4371:Pom121l2	UTSW	13	22,166,409 (GRCm39)	missense	probably benign	0.01
R4574:Pom121l2	UTSW	13	22,168,572 (GRCm39)	missense	probably benign	0.02
R4593:Pom121l2	UTSW	13	22,168,623 (GRCm39)	missense	probably damaging	1.00
R4983:Pom121l2	UTSW	13	22,167,984 (GRCm39)	missense	probably benign	0.02
R5320:Pom121l2	UTSW	13	22,166,015 (GRCm39)	nonsense	probably null
R5661:Pom121l2	UTSW	13	22,168,425 (GRCm39)	missense	possibly damaging	0.90
R5662:Pom121l2	UTSW	13	22,166,358 (GRCm39)	missense	probably benign	0.01
R5908:Pom121l2	UTSW	13	22,165,984 (GRCm39)	missense	probably damaging	0.99
R5980:Pom121l2	UTSW	13	22,167,546 (GRCm39)	missense	probably damaging	0.96
R6145:Pom121l2	UTSW	13	22,166,472 (GRCm39)	nonsense	probably null
R6160:Pom121l2	UTSW	13	22,167,838 (GRCm39)	missense	possibly damaging	0.52
R6327:Pom121l2	UTSW	13	22,166,502 (GRCm39)	missense	probably damaging	1.00
R6504:Pom121l2	UTSW	13	22,167,631 (GRCm39)	missense	possibly damaging	0.55
R6745:Pom121l2	UTSW	13	22,167,868 (GRCm39)	missense	probably benign	0.00
R6750:Pom121l2	UTSW	13	22,166,107 (GRCm39)	missense	probably damaging	1.00
R6752:Pom121l2	UTSW	13	22,165,939 (GRCm39)	missense	probably damaging	0.99
R6796:Pom121l2	UTSW	13	22,167,694 (GRCm39)	missense	probably benign	0.09
R6984:Pom121l2	UTSW	13	22,166,191 (GRCm39)	missense	probably benign	0.33
R7284:Pom121l2	UTSW	13	22,166,775 (GRCm39)	missense	probably damaging	1.00
R7287:Pom121l2	UTSW	13	22,168,502 (GRCm39)	missense	probably benign	0.16
R7568:Pom121l2	UTSW	13	22,166,796 (GRCm39)	missense	probably benign	0.03
R7624:Pom121l2	UTSW	13	22,167,699 (GRCm39)	missense	probably damaging	0.97
R7832:Pom121l2	UTSW	13	22,168,048 (GRCm39)	missense	possibly damaging	0.49
R7956:Pom121l2	UTSW	13	22,167,316 (GRCm39)	missense	probably damaging	1.00
R8103:Pom121l2	UTSW	13	22,166,544 (GRCm39)	missense	probably benign	0.00
R8506:Pom121l2	UTSW	13	22,167,789 (GRCm39)	missense	probably benign	0.04
R9167:Pom121l2	UTSW	13	22,167,160 (GRCm39)	missense	probably damaging	0.97
R9313:Pom121l2	UTSW	13	22,168,506 (GRCm39)	missense	probably benign	0.09
R9332:Pom121l2	UTSW	13	22,165,852 (GRCm39)	missense	probably damaging	1.00
R9463:Pom121l2	UTSW	13	22,168,402 (GRCm39)	missense	probably benign	0.18
Z1177:Pom121l2	UTSW	13	22,172,656 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AACCCTACCGCTTTCGTCAG -3'
(R):5'- CACTTTTCAACAGGGGCTTAAAGG -3'

Sequencing Primer
(F):5'- CTACCGCTTTCGTCAGTGAGG -3'
(R):5'- GCTTAAAGGCGGACCATACG -3'

Posted On

2014-10-02