Mutagenetix > Incidental Mutation

Incidental Mutation 'R6750:Pom121l2'

530731

Institutional Source

Beutler Lab

Gene Symbol

Pom121l2

Ensembl Gene

ENSMUSG00000016982

Gene Name

POM121 transmembrane nucleoporin like 2

Synonyms

LOC195236

MMRRC Submission

044867-MU

Accession Numbers

Essential gene?

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

Stock #

R6750 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22165364-22172904 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 22166107 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Proline at position 126 (R126P)

Ref Sequence

ENSEMBL: ENSMUSP00000113688 (fasta)

Gene Model

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

AlphaFold

Q5SW25

Predicted Effect

probably damaging
Transcript: ENSMUST00000017126
AA Change: R126P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000017126
Gene: ENSMUSG00000016982
AA Change: R126P

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 damaging
Transcript: ENSMUST00000117882
AA Change: R126P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113688
Gene: ENSMUSG00000016982
AA Change: R126P

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

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.7%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	A	T	2: 120,973,130 (GRCm39)	L62F	probably damaging	Het
Akap13	C	T	7: 75,389,206 (GRCm39)	P2375S	probably benign	Het
Apob	T	A	12: 8,047,853 (GRCm39)	L931Q	probably damaging	Het
Arcn1	A	G	9: 44,661,691 (GRCm39)	V391A	possibly damaging	Het
Ccdc162	A	T	10: 41,437,222 (GRCm39)	I1729N	possibly damaging	Het
Cd24a	T	C	10: 43,458,721 (GRCm39)	L86P	unknown	Het
Cdcp3	T	A	7: 130,889,974 (GRCm39)		probably benign	Het
Churc1	C	A	12: 76,822,405 (GRCm39)	H71Q	probably damaging	Het
Clcn3	A	G	8: 61,367,809 (GRCm39)	L780P	possibly damaging	Het
Cldn17	C	T	16: 88,303,195 (GRCm39)	G178E	possibly damaging	Het
Cmah	A	G	13: 24,648,235 (GRCm39)	Y345C	probably damaging	Het
Cntnap5b	C	T	1: 100,202,224 (GRCm39)	S357L	probably damaging	Het
Col6a6	A	G	9: 105,660,879 (GRCm39)	I410T	probably damaging	Het
Crmp1	T	C	5: 37,422,666 (GRCm39)		probably null	Het
Csmd2	A	C	4: 128,091,018 (GRCm39)	N186H	possibly damaging	Het
Cyp1a1	A	T	9: 57,607,539 (GRCm39)	M56L	probably benign	Het
D2hgdh	G	C	1: 93,754,129 (GRCm39)	R56P	probably benign	Het
Dapk2	A	G	9: 66,128,034 (GRCm39)	E104G	probably damaging	Het
Dld	T	C	12: 31,382,213 (GRCm39)	N498S	probably benign	Het
Dyrk4	G	T	6: 126,875,918 (GRCm39)	Q106K	probably benign	Het
Eif2b4	T	C	5: 31,347,304 (GRCm39)	I333V	probably damaging	Het
F5	A	G	1: 164,021,076 (GRCm39)	T1184A	possibly damaging	Het
Fbxl6	C	T	15: 76,422,612 (GRCm39)	G102D	probably damaging	Het
Foxa1	C	T	12: 57,589,396 (GRCm39)	G275R	probably benign	Het
Fryl	A	G	5: 73,179,575 (GRCm39)	I2944T	probably damaging	Het
Gna15	T	C	10: 81,350,117 (GRCm39)	D95G	probably benign	Het
Greb1	T	A	12: 16,738,584 (GRCm39)	M1460L	probably benign	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Herc2	T	C	7: 55,747,195 (GRCm39)	I444T	probably damaging	Het
Ifngr1	T	A	10: 19,485,099 (GRCm39)	M366K	probably benign	Het
Krt27	C	T	11: 99,239,806 (GRCm39)	E253K	probably damaging	Het
Mical2	C	T	7: 111,981,046 (GRCm39)	T406I	probably damaging	Het
Mocs2	T	G	13: 114,962,784 (GRCm39)	D156E	probably damaging	Het
Mprip	A	T	11: 59,586,957 (GRCm39)	K43N	probably damaging	Het
Myo5b	A	T	18: 74,750,106 (GRCm39)	T190S	possibly damaging	Het
Naa25	C	T	5: 121,546,372 (GRCm39)	T86M	probably damaging	Het
Ncam1	T	C	9: 49,478,639 (GRCm39)	D163G	probably damaging	Het
Nlrp4f	A	T	13: 65,329,468 (GRCm39)	Y908*	probably null	Het
Nlrp9b	T	A	7: 19,757,159 (GRCm39)	L132*	probably null	Het
Nrg1	A	C	8: 32,308,124 (GRCm39)	S679A	probably damaging	Het
Or1j1	C	A	2: 36,702,954 (GRCm39)	R50M	possibly damaging	Het
Or52p1	C	T	7: 104,267,320 (GRCm39)	R145C	probably damaging	Het
Paqr9	A	T	9: 95,443,050 (GRCm39)	T347S	probably damaging	Het
Pcdhb21	T	C	18: 37,647,501 (GRCm39)	L210P	probably damaging	Het
Pdzd7	T	G	19: 45,016,187 (GRCm39)	D978A	probably benign	Het
Phf8-ps	A	T	17: 33,285,372 (GRCm39)	S477T	possibly damaging	Het
Pkd1l1	A	T	11: 8,923,217 (GRCm39)	S17T	unknown	Het
Plcz1	T	C	6: 139,974,164 (GRCm39)	K93E	possibly damaging	Het
Prkg1	C	T	19: 31,741,961 (GRCm39)	E88K	probably benign	Het
Psme4	A	T	11: 30,803,203 (GRCm39)	D15V	probably damaging	Het
Ptprf	A	G	4: 118,088,928 (GRCm39)	V625A	probably benign	Het
Rab27a	G	A	9: 72,992,290 (GRCm39)	S106N	probably damaging	Het
Rasa4	A	G	5: 136,129,802 (GRCm39)	T261A	probably benign	Het
Sardh	T	C	2: 27,118,269 (GRCm39)	D487G	probably benign	Het
Sec16a	A	G	2: 26,330,030 (GRCm39)	Y662H	probably benign	Het
Sema3d	T	A	5: 12,635,067 (GRCm39)	L711*	probably null	Het
Septin14	T	A	5: 129,773,181 (GRCm39)	Y152F	probably damaging	Het
Smc5	A	G	19: 23,220,004 (GRCm39)	L411P	probably damaging	Het
Spata31e5	C	A	1: 28,816,495 (GRCm39)	E512D	probably damaging	Het
Spg7	T	A	8: 123,800,650 (GRCm39)	V39E	probably damaging	Het
Tas2r117	A	G	6: 132,779,817 (GRCm39)		probably benign	Het
Tle1	A	T	4: 72,040,687 (GRCm39)	I631N	probably damaging	Het
Tmed3	T	A	9: 89,581,843 (GRCm39)	S207C	probably damaging	Het
Tmem59l	G	A	8: 70,939,022 (GRCm39)	P51S	probably benign	Het
Trpc3	A	G	3: 36,678,542 (GRCm39)	Y848H	probably damaging	Het
Tsen2	T	C	6: 115,526,881 (GRCm39)	F66S	probably damaging	Het
Ttll5	T	A	12: 86,003,384 (GRCm39)	S216R	probably damaging	Het
Usp22	A	T	11: 61,048,042 (GRCm39)	V426E	probably damaging	Het
Vmn2r76	T	C	7: 85,875,114 (GRCm39)	N621S	probably damaging	Het
Wdr75	A	G	1: 45,856,539 (GRCm39)	T521A	probably damaging	Het
Wrnip1	T	A	13: 32,986,739 (GRCm39)	D173E	probably damaging	Het
Zfp317	G	A	9: 19,559,100 (GRCm39)	G438D	probably damaging	Het
Zscan10	T	A	17: 23,826,164 (GRCm39)	S109T	possibly 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
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
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'- TACCGCTTTCGTCAGTGAGG -3'
(R):5'- GTGGCCCCACTTTTCAACAG -3'

Sequencing Primer
(F):5'- TCGTCAGTGAGGCCTGGAG -3'
(R):5'- CCACTTTTCAACAGGGGCTTAAAGG -3'

Posted On

2018-08-01