Mutagenetix > Incidental Mutation

Incidental Mutation 'R0892:Pom121l2'

83543

Institutional Source

Beutler Lab

Gene Symbol

Pom121l2

Ensembl Gene

ENSMUSG00000016982

Gene Name

POM121 transmembrane nucleoporin like 2

Synonyms

LOC195236

MMRRC Submission

039055-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R0892 (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 22166644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 305 (E305G)

Ref Sequence

ENSEMBL: ENSMUSP00000017126 (fasta)

Gene Model

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

AlphaFold

Q5SW25

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017126
AA Change: E305G

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000017126
Gene: ENSMUSG00000016982
AA Change: E305G

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: E305G

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113688
Gene: ENSMUSG00000016982
AA Change: E305G

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: 99.5%
3x: 98.9%
10x: 97.5%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,248,305 (GRCm39)	V2684E	probably benign	Het
Ankub1	T	C	3: 57,597,800 (GRCm39)	R57G	probably benign	Het
Bcr	C	T	10: 74,960,895 (GRCm39)	A442V	probably benign	Het
Cd46	T	C	1: 194,764,920 (GRCm39)	T226A	possibly damaging	Het
Dmkn	C	T	7: 30,466,829 (GRCm39)	R114C	probably damaging	Het
Ell2	A	T	13: 75,911,758 (GRCm39)	N348I	probably damaging	Het
Epg5	T	A	18: 78,011,843 (GRCm39)	I830N	possibly damaging	Het
Gm15737	C	T	6: 92,856,721 (GRCm39)		probably benign	Het
Gpa33	A	G	1: 165,985,211 (GRCm39)	N182S	probably damaging	Het
Gpr37	A	T	6: 25,688,206 (GRCm39)	I297N	probably damaging	Het
Hpse2	T	C	19: 43,376,585 (GRCm39)	K56E	probably benign	Het
Lamc1	G	A	1: 153,208,000 (GRCm39)	H96Y	possibly damaging	Het
Mapre2	A	G	18: 23,991,200 (GRCm39)	N189S	probably benign	Het
Msmo1	T	A	8: 65,175,587 (GRCm39)	I148F	possibly damaging	Het
Myh6	T	C	14: 55,184,511 (GRCm39)	T1607A	probably benign	Het
Oog2	A	T	4: 143,923,069 (GRCm39)	T445S	probably benign	Het
Or5b122	T	A	19: 13,562,881 (GRCm39)	V28D	probably damaging	Het
Plag1	G	A	4: 3,904,532 (GRCm39)	Q220*	probably null	Het
Prorp	A	G	12: 55,429,033 (GRCm39)		probably null	Het
Sbsn	A	T	7: 30,454,244 (GRCm39)	Q50L	possibly damaging	Het
Slc25a42	A	G	8: 70,644,597 (GRCm39)	L34P	probably damaging	Het
Sptbn1	C	A	11: 30,092,201 (GRCm39)	R521S	probably damaging	Het
St14	A	T	9: 31,011,724 (GRCm39)	V394E	probably benign	Het
Tatdn3	T	C	1: 190,795,002 (GRCm39)	D18G	probably benign	Het
Trappc8	A	G	18: 20,964,665 (GRCm39)		probably null	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
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
R2180:Pom121l2	UTSW	13	22,166,145 (GRCm39)	missense	probably benign	0.08
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'- TGAAAAGGAGACCCCATGTCCAGAG -3'
(R):5'- ACAAGGTAGGCTGAATTCCAGCCC -3'

Sequencing Primer
(F):5'- AATGTAAGAGATCCGGTTGCTTC -3'
(R):5'- AGCCCTCATCTCTGGAATGG -3'

Posted On

2013-11-08