Mutagenetix > Incidental Mutation

Incidental Mutation 'R2046:Nrm'

222033

Institutional Source

Beutler Lab

Gene Symbol

Nrm

Ensembl Gene

ENSMUSG00000059791

Gene Name

nurim (nuclear envelope membrane protein)

Synonyms

2610307M02Rik

MMRRC Submission

040053-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.836) question?

Stock #

R2046 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36172210-36176294 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36175109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 146 (V146I)

Ref Sequence

ENSEMBL: ENSMUSP00000073873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074259] [ENSMUST00000082337] [ENSMUST00000113814] [ENSMUST00000122899] [ENSMUST00000127442] [ENSMUST00000144382] [ENSMUST00000174873] [ENSMUST00000187690] [ENSMUST00000190496]

AlphaFold

Q8VC65

Predicted Effect

probably benign
Transcript: ENSMUST00000074259
AA Change: V146I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000073873
Gene: ENSMUSG00000059791
AA Change: V146I

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
transmembrane domain	59	81	N/A	INTRINSIC
transmembrane domain	94	116	N/A	INTRINSIC
transmembrane domain	136	158	N/A	INTRINSIC
low complexity region	212	234	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000082337

SMART Domains

Protein: ENSMUSP00000080949
Gene: ENSMUSG00000061607

Domain	Start	End	E-Value	Type
low complexity region	12	18	N/A	INTRINSIC
FHA	53	105	5.63e-9	SMART
low complexity region	194	215	N/A	INTRINSIC
low complexity region	854	870	N/A	INTRINSIC
low complexity region	969	987	N/A	INTRINSIC
low complexity region	1008	1022	N/A	INTRINSIC
internal_repeat_1	1027	1115	6.7e-11	PROSPERO
internal_repeat_2	1030	1141	2.36e-9	PROSPERO
internal_repeat_1	1266	1354	6.7e-11	PROSPERO
internal_repeat_2	1298	1417	2.36e-9	PROSPERO
low complexity region	1422	1445	N/A	INTRINSIC
low complexity region	1457	1477	N/A	INTRINSIC
BRCT	1502	1579	1.66e-1	SMART
BRCT	1612	1691	2.45e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113814

SMART Domains

Protein: ENSMUSP00000109445
Gene: ENSMUSG00000034595

Domain	Start	End	E-Value	Type
Pfam:Phostensin_N	28	117	1.3e-42	PFAM
low complexity region	138	154	N/A	INTRINSIC
low complexity region	353	365	N/A	INTRINSIC
Pfam:Phostensin	417	541	7.7e-49	PFAM
low complexity region	560	573	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122899

SMART Domains

Protein: ENSMUSP00000120343
Gene: ENSMUSG00000034595

Domain	Start	End	E-Value	Type
Pfam:Phostensin_N	28	117	1.3e-42	PFAM
low complexity region	138	154	N/A	INTRINSIC
low complexity region	353	365	N/A	INTRINSIC
Pfam:Phostensin	417	541	7.7e-49	PFAM
low complexity region	560	573	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127442

SMART Domains

Protein: ENSMUSP00000115753
Gene: ENSMUSG00000034595

Domain	Start	End	E-Value	Type
Pfam:Phostensin_N	27	117	1.5e-39	PFAM
low complexity region	138	154	N/A	INTRINSIC
low complexity region	353	365	N/A	INTRINSIC
Pfam:Phostensin	417	540	6.9e-34	PFAM
low complexity region	560	573	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144382

SMART Domains

Protein: ENSMUSP00000116100
Gene: ENSMUSG00000034595

Domain	Start	End	E-Value	Type
Pfam:Phostensin_N	28	117	1.3e-42	PFAM
low complexity region	138	154	N/A	INTRINSIC
low complexity region	353	365	N/A	INTRINSIC
Pfam:Phostensin	417	541	7.7e-49	PFAM
low complexity region	560	573	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145804

Predicted Effect

unknown
Transcript: ENSMUST00000172931
AA Change: V46I

SMART Domains

Protein: ENSMUSP00000134569
Gene: ENSMUSG00000059791
AA Change: V46I

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184224

Predicted Effect

probably benign
Transcript: ENSMUST00000174873

SMART Domains

Protein: ENSMUSP00000133355
Gene: ENSMUSG00000059791

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187690

SMART Domains

Protein: ENSMUSP00000141094
Gene: ENSMUSG00000034595

Domain	Start	End	E-Value	Type
Pfam:Phostensin_N	28	117	1.3e-42	PFAM
low complexity region	138	154	N/A	INTRINSIC
low complexity region	353	365	N/A	INTRINSIC
Pfam:Phostensin	417	541	7.7e-49	PFAM
low complexity region	560	573	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190496

SMART Domains

Protein: ENSMUSP00000140652
Gene: ENSMUSG00000034595

Domain	Start	End	E-Value	Type
Pfam:Phostensin	1	113	3.6e-43	PFAM
low complexity region	132	145	N/A	INTRINSIC

Meta Mutation Damage Score

0.0605

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (71/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains transmembrane domains and resides within the inner nuclear membrane, where it is tightly associated with the nucleus. This protein shares homology with isoprenylcysteine carboxymethyltransferase enzymes. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	A	18: 70,600,553 (GRCm39)	D84V	probably damaging	Het
Abcc5	A	T	16: 20,218,567 (GRCm39)	S272T	possibly damaging	Het
Adgre4	A	G	17: 56,085,847 (GRCm39)	N49D	possibly damaging	Het
Ap2b1	A	T	11: 83,227,212 (GRCm39)	Y328F	probably benign	Het
Arhgef33	G	C	17: 80,680,895 (GRCm39)	E678D	probably benign	Het
Arid2	G	A	15: 96,267,268 (GRCm39)	V583I	probably damaging	Het
Bdkrb1	T	A	12: 105,570,985 (GRCm39)	S184T	probably benign	Het
Bend3	T	C	10: 43,387,842 (GRCm39)	F745S	probably damaging	Het
Card10	A	T	15: 78,671,673 (GRCm39)	V597E	possibly damaging	Het
Casp3	T	A	8: 47,082,761 (GRCm39)		probably benign	Het
Ccnb2	A	G	9: 70,316,629 (GRCm39)	V340A	probably benign	Het
Cdkl3	G	T	11: 51,917,677 (GRCm39)	V325L	probably benign	Het
Clec4n	T	A	6: 123,223,463 (GRCm39)	N153K	probably benign	Het
Crtac1	C	T	19: 42,322,492 (GRCm39)	V83I	probably damaging	Het
Cul9	C	A	17: 46,854,659 (GRCm39)	L14F	probably damaging	Het
Dgka	T	C	10: 128,559,404 (GRCm39)	Y519C	probably damaging	Het
Dhrs7	T	G	12: 72,699,040 (GRCm39)	K314T	possibly damaging	Het
Dnaaf9	T	A	2: 130,652,837 (GRCm39)	I42L	possibly damaging	Het
Dnah10	G	T	5: 124,873,405 (GRCm39)	K2542N	probably benign	Het
Dock5	A	T	14: 68,049,591 (GRCm39)	V731E	probably benign	Het
Dpy19l1	T	A	9: 24,334,455 (GRCm39)	H571L	probably damaging	Het
Dzip1	A	T	14: 119,159,890 (GRCm39)	I106N	probably damaging	Het
Eif2ak4	A	T	2: 118,281,889 (GRCm39)		probably benign	Het
Epha4	T	C	1: 77,483,799 (GRCm39)	Y70C	probably damaging	Het
Eps15	T	C	4: 109,227,793 (GRCm39)	F344S	probably damaging	Het
Erbb4	C	T	1: 68,337,482 (GRCm39)	R612Q	probably benign	Het
Fam83h	T	C	15: 75,874,787 (GRCm39)	H850R	probably benign	Het
Fancg	A	G	4: 43,004,604 (GRCm39)	C484R	probably damaging	Het
Fzd9	A	G	5: 135,278,538 (GRCm39)	I449T	probably damaging	Het
Gm10647	A	G	9: 66,705,519 (GRCm39)		probably benign	Het
Iigp1c	T	A	18: 60,378,571 (GRCm39)	H35Q	probably benign	Het
Itga11	C	T	9: 62,634,979 (GRCm39)	L86F	probably damaging	Het
Lamc2	C	T	1: 153,017,511 (GRCm39)	R492H	probably benign	Het
Marchf6	A	G	15: 31,486,580 (GRCm39)	V325A	probably benign	Het
Myo5b	A	T	18: 74,710,526 (GRCm39)	I47F	probably benign	Het
Nek9	T	A	12: 85,367,481 (GRCm39)		probably benign	Het
Nelfb	T	A	2: 25,096,323 (GRCm39)	N262I	probably damaging	Het
Neurl4	A	G	11: 69,799,523 (GRCm39)	D942G	probably damaging	Het
Nipbl	G	A	15: 8,353,951 (GRCm39)	P1729S	probably benign	Het
Nr4a3	A	G	4: 48,067,807 (GRCm39)	T468A	possibly damaging	Het
Or8h9	C	A	2: 86,789,077 (GRCm39)	A242S	possibly damaging	Het
Pitx3	T	C	19: 46,125,618 (GRCm39)	E42G	possibly damaging	Het
Pkd1l2	C	T	8: 117,726,694 (GRCm39)	A2271T	probably damaging	Het
Pofut2	A	G	10: 77,096,428 (GRCm39)	N51S	probably damaging	Het
Ppp1r3a	T	C	6: 14,722,103 (GRCm39)	E273G	probably benign	Het
Psme4	A	G	11: 30,767,723 (GRCm39)		probably benign	Het
Pus7l	T	C	15: 94,438,666 (GRCm39)	I60V	probably benign	Het
Pygo2	T	A	3: 89,340,455 (GRCm39)	N284K	possibly damaging	Het
Ralgapa1	C	T	12: 55,741,945 (GRCm39)	C1368Y	probably damaging	Het
Rbm45	G	A	2: 76,205,742 (GRCm39)	G198E	probably benign	Het
Reln	T	C	5: 22,147,625 (GRCm39)	I2442V	probably benign	Het
Rmi1	T	C	13: 58,555,772 (GRCm39)	V7A	probably benign	Het
Rsf1	T	C	7: 97,310,884 (GRCm39)	L538P	probably benign	Het
Rsph4a	T	G	10: 33,790,539 (GRCm39)		probably benign	Het
Sardh	A	T	2: 27,105,094 (GRCm39)	D676E	possibly damaging	Het
Sh3tc2	A	G	18: 62,123,914 (GRCm39)	M892V	probably benign	Het
Slc38a11	A	G	2: 65,188,529 (GRCm39)	F80S	probably damaging	Het
Slc6a2	C	A	8: 93,699,554 (GRCm39)	S194*	probably null	Het
Slco2b1	A	G	7: 99,339,686 (GRCm39)	F86L	probably damaging	Het
Smc3	G	A	19: 53,627,845 (GRCm39)	D875N	probably benign	Het
Sp100	G	A	1: 85,636,786 (GRCm39)	E575K	possibly damaging	Het
Spns2	A	G	11: 72,349,866 (GRCm39)	L196P	possibly damaging	Het
Taf8	A	G	17: 47,801,201 (GRCm39)	S261P	probably benign	Het
Trim2	A	G	3: 84,115,596 (GRCm39)	L86P	probably damaging	Het
Ttn	C	A	2: 76,738,138 (GRCm39)	V4134F	probably benign	Het
Ush2a	A	G	1: 188,089,124 (GRCm39)	T360A	probably benign	Het
Usp28	T	A	9: 48,950,375 (GRCm39)	C935S	probably damaging	Het
Vps37d	T	A	5: 135,102,831 (GRCm39)	M134L	probably benign	Het
Vwa2	T	G	19: 56,894,010 (GRCm39)	V329G	probably benign	Het
Zfp110	A	G	7: 12,583,349 (GRCm39)	R666G	probably benign	Het

Other mutations in Nrm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00869:Nrm	APN	17	36,175,647 (GRCm39)	missense	probably benign	0.06
IGL02511:Nrm	APN	17	36,172,316 (GRCm39)	missense	probably damaging	1.00
R0211:Nrm	UTSW	17	36,175,503 (GRCm39)	missense	probably damaging	1.00
R0557:Nrm	UTSW	17	36,175,524 (GRCm39)	missense	probably damaging	1.00
R0602:Nrm	UTSW	17	36,175,156 (GRCm39)	nonsense	probably null
R0635:Nrm	UTSW	17	36,175,156 (GRCm39)	nonsense	probably null
R1571:Nrm	UTSW	17	36,175,079 (GRCm39)	missense	probably damaging	1.00
R4073:Nrm	UTSW	17	36,172,424 (GRCm39)	splice site	probably benign
R4612:Nrm	UTSW	17	36,174,421 (GRCm39)	missense	probably benign	0.00
R4828:Nrm	UTSW	17	36,175,082 (GRCm39)	missense	possibly damaging	0.72
R6038:Nrm	UTSW	17	36,172,397 (GRCm39)	missense	possibly damaging	0.83
R6322:Nrm	UTSW	17	36,175,605 (GRCm39)	missense	possibly damaging	0.73
R6456:Nrm	UTSW	17	36,176,292 (GRCm39)	splice site	probably null
R7345:Nrm	UTSW	17	36,175,476 (GRCm39)	missense	probably damaging	1.00
R8730:Nrm	UTSW	17	36,175,423 (GRCm39)	missense	probably benign
R9789:Nrm	UTSW	17	36,172,411 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGGCCATCTTCATGTCCTTG -3'
(R):5'- TCCTTTAAGGCAAGCTGGAGG -3'

Sequencing Primer
(F):5'- TATACCTGTCGGAAAGAGTCCTCG -3'
(R):5'- CCTTTAAGGCAAGCTGGAGGAAAAC -3'

Posted On

2014-08-25