Mutagenetix > Incidental Mutation

Incidental Mutation 'R0211:Nrm'

35576

Institutional Source

Beutler Lab

Gene Symbol

Nrm

Ensembl Gene

ENSMUSG00000059791

Gene Name

nurim (nuclear envelope membrane protein)

Synonyms

2610307M02Rik

MMRRC Submission

038462-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.836) question?

Stock #

R0211 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36172210-36176294 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36175503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 203 (L203Q)

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 damaging
Transcript: ENSMUST00000074259
AA Change: L203Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000073873
Gene: ENSMUSG00000059791
AA Change: L203Q

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

silent
Transcript: ENSMUST00000174873

SMART Domains

Protein: ENSMUSP00000133355
Gene: ENSMUSG00000059791

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184224

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: ENSMUST00000172931

SMART Domains

Protein: ENSMUSP00000134569
Gene: ENSMUSG00000059791

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	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

Coding Region Coverage

1x: 98.2%
3x: 97.0%
10x: 94.6%
20x: 89.0%

Validation Efficiency

100% (1/1)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,262,870 (GRCm39)	L1401P	possibly damaging	Het
4930503B20Rik	C	T	3: 146,356,251 (GRCm39)	R219H	probably benign	Het
Abcc9	T	A	6: 142,634,710 (GRCm39)	I185F	probably benign	Het
Adgrf1	T	C	17: 43,607,581 (GRCm39)	L100P	probably damaging	Het
Akt1	T	C	12: 112,621,576 (GRCm39)	T407A	probably damaging	Het
Alk	C	T	17: 72,910,511 (GRCm39)	R65H	probably damaging	Het
Aplp2	T	C	9: 31,069,086 (GRCm39)	E525G	probably damaging	Het
Arhgef12	G	A	9: 42,883,300 (GRCm39)	R1411C	probably damaging	Het
Arnt	T	A	3: 95,383,460 (GRCm39)	M242K	probably damaging	Het
Atad5	T	G	11: 79,986,473 (GRCm39)	V520G	probably benign	Het
Avpr1a	T	A	10: 122,285,374 (GRCm39)	M222K	possibly damaging	Het
Cbr2	T	A	11: 120,621,614 (GRCm39)	I88L	probably benign	Het
Cc2d2a	T	A	5: 43,845,608 (GRCm39)		probably null	Het
Ccdc51	T	C	9: 108,918,441 (GRCm39)	M10T	probably benign	Het
Cntnap5b	T	A	1: 100,406,099 (GRCm39)	D1136E	possibly damaging	Het
Coil	T	A	11: 88,872,979 (GRCm39)	S447T	probably damaging	Het
Cryba1	T	A	11: 77,609,693 (GRCm39)	Y179F	probably damaging	Het
Dcaf4	T	A	12: 83,582,735 (GRCm39)	F277I	probably damaging	Het
Ddost	G	A	4: 138,036,913 (GRCm39)	V159M	probably damaging	Het
Dnaaf4	A	T	9: 72,868,649 (GRCm39)	R127S	possibly damaging	Het
Dnajb6	T	C	5: 29,990,077 (GRCm39)		probably benign	Het
Dnase2a	A	G	8: 85,635,417 (GRCm39)		probably benign	Het
Dscam	T	C	16: 96,517,279 (GRCm39)	I877V	possibly damaging	Het
Efcc1	A	T	6: 87,726,136 (GRCm39)	T312S	probably benign	Het
Elp1	T	A	4: 56,795,545 (GRCm39)	I143F	probably damaging	Het
Ermard	A	T	17: 15,242,205 (GRCm39)	Q127L	probably damaging	Het
F2	T	C	2: 91,460,503 (GRCm39)	E329G	probably damaging	Het
Foxc2	T	A	8: 121,843,355 (GRCm39)	M1K	probably null	Het
Fuz	T	A	7: 44,548,446 (GRCm39)		probably null	Het
Ggnbp2	G	A	11: 84,731,139 (GRCm39)	T325M	probably damaging	Het
Gm6408	T	A	5: 146,419,870 (GRCm39)	F115I	probably benign	Het
Gp6	C	T	7: 4,376,208 (GRCm39)		probably null	Het
Grin2a	A	G	16: 9,397,037 (GRCm39)	S1017P	possibly damaging	Het
H2-T5	T	C	17: 36,478,899 (GRCm39)	T117A	probably damaging	Het
Hmmr	A	T	11: 40,605,635 (GRCm39)	M318K	probably damaging	Het
Ifi205	T	C	1: 173,855,994 (GRCm39)	E12G	probably benign	Het
Ift74	C	T	4: 94,567,492 (GRCm39)	T395I	probably benign	Het
Irf8	A	T	8: 121,466,714 (GRCm39)	D53V	probably damaging	Het
Itgad	A	G	7: 127,803,813 (GRCm39)	Y69C	probably damaging	Het
Itpr2	C	A	6: 146,096,111 (GRCm39)	R2084L	probably benign	Het
Krt4	C	A	15: 101,831,217 (GRCm39)	S228I	possibly damaging	Het
Lpin3	A	T	2: 160,740,601 (GRCm39)	D382V	probably damaging	Het
Ltbp3	T	C	19: 5,802,171 (GRCm39)		probably null	Het
Map4k3	C	T	17: 80,952,270 (GRCm39)	A179T	probably damaging	Het
Nck1	A	T	9: 100,379,820 (GRCm39)	W144R	probably damaging	Het
Ndufb9	A	T	15: 58,811,131 (GRCm39)	Q139L	possibly damaging	Het
Ngfr	T	G	11: 95,462,738 (GRCm39)	E300A	probably damaging	Het
Nin	T	G	12: 70,061,649 (GRCm39)	T2072P	probably damaging	Het
Nop2	T	G	6: 125,118,307 (GRCm39)	L529R	probably damaging	Het
Nynrin	T	C	14: 56,109,255 (GRCm39)	F1454S	probably benign	Het
Or10ak7	T	A	4: 118,791,467 (GRCm39)	M191L	probably benign	Het
Or5b101	T	C	19: 13,005,646 (GRCm39)	T16A	possibly damaging	Het
Or8j3c	A	C	2: 86,253,451 (GRCm39)	S190A	probably damaging	Het
Os9	A	G	10: 126,956,905 (GRCm39)	V27A	probably damaging	Het
Osbpl9	T	G	4: 108,930,321 (GRCm39)	T332P	probably damaging	Het
Pcdhb10	A	T	18: 37,547,059 (GRCm39)	M712L	probably benign	Het
Pcx	C	T	19: 4,670,227 (GRCm39)	A935V	probably damaging	Het
Pdzd7	A	G	19: 45,022,106 (GRCm39)	V514A	possibly damaging	Het
Plin4	C	T	17: 56,409,242 (GRCm39)	G1326D	probably damaging	Het
Plxnb1	T	A	9: 108,932,731 (GRCm39)	Y568*	probably null	Het
Pmfbp1	T	A	8: 110,268,372 (GRCm39)	V973D	probably benign	Het
Ppp2r1b	T	C	9: 50,772,925 (GRCm39)	V70A	probably benign	Het
Prkar2b	C	A	12: 32,022,183 (GRCm39)	V201L	probably benign	Het
Rgr	T	G	14: 36,768,925 (GRCm39)	T37P	probably damaging	Het
Ripk3	A	T	14: 56,025,375 (GRCm39)	L63Q	probably damaging	Het
Rpusd2	A	G	2: 118,868,893 (GRCm39)	S439G	probably benign	Het
Serac1	T	A	17: 6,100,335 (GRCm39)	R438S	possibly damaging	Het
Slc19a1	T	A	10: 76,874,300 (GRCm39)	S24T	possibly damaging	Het
Slc6a21	A	C	7: 44,937,667 (GRCm39)	T653P	possibly damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spdef	C	T	17: 27,933,894 (GRCm39)	R309H	probably damaging	Het
Srp68	A	T	11: 116,156,377 (GRCm39)	Y84N	probably damaging	Het
Syne2	A	T	12: 76,144,731 (GRCm39)	Q6299L	probably damaging	Het
Tmem63b	T	A	17: 45,972,839 (GRCm39)	M652L	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tnk1	A	G	11: 69,746,007 (GRCm39)	V306A	probably damaging	Het
Tnnc2	T	A	2: 164,619,404 (GRCm39)	I147F	probably damaging	Het
Tnni3k	C	T	3: 154,760,981 (GRCm39)		probably benign	Het
Togaram2	T	A	17: 72,036,243 (GRCm39)	V911D	probably damaging	Het
Tyw3	T	C	3: 154,293,132 (GRCm39)	N181S	probably damaging	Het
Unc79	T	A	12: 103,039,051 (GRCm39)	S682T	probably benign	Het
Vps13d	A	G	4: 144,841,348 (GRCm39)	L2634S	probably benign	Het
Wasl	G	T	6: 24,633,892 (GRCm39)	A124E	probably damaging	Het
Zfp287	T	C	11: 62,605,743 (GRCm39)	H388R	probably damaging	Het
Zfp335	T	C	2: 164,749,612 (GRCm39)	T262A	probably damaging	Het
Zfp457	C	G	13: 67,441,211 (GRCm39)	G359R	probably benign	Het
Zfp536	T	A	7: 37,267,874 (GRCm39)	E514V	probably damaging	Het
Zfp872	T	A	9: 22,111,469 (GRCm39)	I316N	probably damaging	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
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
R2046:Nrm	UTSW	17	36,175,109 (GRCm39)	missense	probably benign	0.00
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'- CTCCAGCTTGCCTTAAAGGAGAGTG -3'
(R):5'- TCAGGGCTTAGAACTAGCTCCTCAC -3'

Sequencing Primer
(F):5'- ACTGTAGGTCTCCTGGGC -3'
(R):5'- AGAACTAGCTCCTCACTCTGC -3'

Posted On

2013-05-09