Mutagenetix > Incidental Mutation

Incidental Mutation 'R9632:Nrg1'

725580

Institutional Source

Beutler Lab

Gene Symbol

Nrg1

Ensembl Gene

ENSMUSG00000062991

Gene Name

neuregulin 1

Synonyms

NDF, Hgl, GGF, HRG, HGL, SMDF, heregulin, D230005F13Rik, HRGalpha, 6030402G23Rik, ARIA, GGFII

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9632 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32299493-33381858 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32407621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 204 (K204R)

Ref Sequence

ENSEMBL: ENSMUSP00000073546 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073884] [ENSMUST00000207417] [ENSMUST00000207470] [ENSMUST00000208205] [ENSMUST00000208488] [ENSMUST00000208497] [ENSMUST00000208598] [ENSMUST00000208617] [ENSMUST00000208819] [ENSMUST00000208931] [ENSMUST00000209022] [ENSMUST00000209107]

AlphaFold

A0A140LHZ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073884
AA Change: K204R

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000073546
Gene: ENSMUSG00000062991
AA Change: K204R

Domain	Start	End	E-Value	Type
transmembrane domain	78	100	N/A	INTRINSIC
low complexity region	180	198	N/A	INTRINSIC
low complexity region	223	232	N/A	INTRINSIC
EGF	236	277	7.88e-4	SMART
Pfam:Neuregulin	295	688	5.3e-193	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207417

Predicted Effect

probably benign
Transcript: ENSMUST00000207470

Predicted Effect

probably benign
Transcript: ENSMUST00000208205

Predicted Effect

probably benign
Transcript: ENSMUST00000208488

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208497
AA Change: K204R

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000208598

Predicted Effect

probably benign
Transcript: ENSMUST00000208617

Predicted Effect

probably benign
Transcript: ENSMUST00000208819

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208931
AA Change: K25R

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000209022

Predicted Effect

probably benign
Transcript: ENSMUST00000209107

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for targeted null mutations exhibit heart defects, impaired development of Schwann cell precursors, cranial ganglia, and radial glia cells, and die at embryonic day 10.5-11.5. Heterozygotes are hyperactive with reduced NMDA receptors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	G	11: 100,389,072 (GRCm39)	I570T	probably damaging	Het
Adamtsl4	G	A	3: 95,589,090 (GRCm39)	T447I	probably damaging	Het
Ahcyl1	T	A	3: 107,578,494 (GRCm39)	I248F	possibly damaging	Het
Arhgef2	T	C	3: 88,528,576 (GRCm39)	I4T	probably benign	Het
Bin2	T	C	15: 100,549,915 (GRCm39)	D176G	possibly damaging	Het
Bptf	T	A	11: 106,952,545 (GRCm39)	T2166S	probably damaging	Het
Cachd1	T	A	4: 100,832,092 (GRCm39)	N751K	probably benign	Het
Castor1	A	G	11: 4,169,015 (GRCm39)	K61E	probably benign	Het
CN725425	A	T	15: 91,126,851 (GRCm39)	T214S	possibly damaging	Het
Crtam	A	T	9: 40,895,671 (GRCm39)	D218E	probably benign	Het
Ctsj	C	T	13: 61,151,828 (GRCm39)	M76I	probably benign	Het
Cuedc1	C	A	11: 88,060,955 (GRCm39)	S99R	possibly damaging	Het
Cyp4a14	T	A	4: 115,349,347 (GRCm39)	I238F	probably benign	Het
Dnajb11	A	T	16: 22,681,344 (GRCm39)	I41F	probably damaging	Het
Drd3	A	G	16: 43,643,135 (GRCm39)	N425S	probably damaging	Het
Eci1	G	C	17: 24,645,859 (GRCm39)	G25R	probably damaging	Het
Etl4	A	T	2: 20,666,749 (GRCm39)	N52I	probably benign	Het
Fbxo34	T	C	14: 47,768,724 (GRCm39)	Y746H	probably damaging	Het
Fcgbpl1	A	G	7: 27,841,726 (GRCm39)	I554V	probably benign	Het
Fndc1	T	C	17: 7,991,622 (GRCm39)	I691M	unknown	Het
Fut8	A	G	12: 77,440,507 (GRCm39)	T165A	probably benign	Het
Galr1	A	T	18: 82,424,103 (GRCm39)	L58Q	probably damaging	Het
Glt28d2	T	C	3: 85,779,059 (GRCm39)	D138G	probably benign	Het
Gm11595	A	T	11: 99,663,097 (GRCm39)	C194*	probably null	Het
Gm14403	T	A	2: 177,201,421 (GRCm39)	N213K	probably benign	Het
Gmpr	T	C	13: 45,699,519 (GRCm39)	V343A	probably benign	Het
Hacd1	T	C	2: 14,040,678 (GRCm39)	N152D	possibly damaging	Het
Hcn1	A	G	13: 118,010,522 (GRCm39)	S367G	probably benign	Het
Impg1	A	G	9: 80,287,276 (GRCm39)	V390A	probably benign	Het
Itpr1	T	C	6: 108,382,481 (GRCm39)	C1458R	possibly damaging	Het
Kif16b	A	T	2: 142,553,960 (GRCm39)	V946E	probably benign	Het
Krt71	T	C	15: 101,644,988 (GRCm39)	E441G	probably damaging	Het
Lhcgr	A	G	17: 89,049,532 (GRCm39)	F665L	probably benign	Het
Lrrc37	T	A	11: 103,433,252 (GRCm39)	S3306C	unknown	Het
Lzic	T	A	4: 149,573,141 (GRCm39)	F98I	probably damaging	Het
Map3k8	A	T	18: 4,339,546 (GRCm39)	V275D	probably damaging	Het
Marchf8	C	T	6: 116,378,405 (GRCm39)	T113I	possibly damaging	Het
Mmp15	A	G	8: 96,098,731 (GRCm39)		probably null	Het
Mpst	A	G	15: 78,294,469 (GRCm39)	D67G	probably damaging	Het
Nanog	T	C	6: 122,684,799 (GRCm39)	S20P	probably benign	Het
Ndufc2	T	C	7: 97,056,102 (GRCm39)	S67P	probably damaging	Het
Nsf	T	A	11: 103,714,594 (GRCm39)	K728N	probably damaging	Het
Nutm2	C	A	13: 50,628,901 (GRCm39)	P655H	probably benign	Het
Obscn	G	A	11: 58,943,397 (GRCm39)	R4251C	probably benign	Het
Or10g9	A	T	9: 39,912,172 (GRCm39)	M117K	probably damaging	Het
Or11h4	C	T	14: 50,974,199 (GRCm39)	C140Y	probably benign	Het
Or4a15	T	C	2: 89,193,065 (GRCm39)	Y236C	probably damaging	Het
Or4c102	A	T	2: 88,423,057 (GRCm39)	Q303L	probably benign	Het
Or4c120	T	C	2: 89,001,752 (GRCm39)		probably benign	Het
Or56a5	T	A	7: 104,793,165 (GRCm39)	T112S	probably benign	Het
Otog	A	T	7: 45,915,143 (GRCm39)	Q836L	probably benign	Het
Pcdhb11	T	C	18: 37,556,019 (GRCm39)	F450L	probably damaging	Het
Pelp1	T	C	11: 70,284,835 (GRCm39)	E1011G	unknown	Het
Pfkfb3	T	G	2: 11,486,109 (GRCm39)	R459S	probably benign	Het
Pgm1	T	C	4: 99,843,918 (GRCm39)	L567P	probably damaging	Het
Phf2	T	A	13: 48,971,292 (GRCm39)	D460V	unknown	Het
Polr1f	G	A	12: 33,479,723 (GRCm39)	G24R	possibly damaging	Het
Pou5f1	G	A	17: 35,819,731 (GRCm39)		probably benign	Het
Pou6f2	T	C	13: 18,299,848 (GRCm39)	R604G		Het
Pramel5	T	A	4: 143,999,545 (GRCm39)	I181F	probably benign	Het
Ptprc	T	C	1: 138,008,627 (GRCm39)	R687G	probably damaging	Het
Ptprz1	T	A	6: 23,007,292 (GRCm39)	H1618Q	probably damaging	Het
Qars1	G	A	9: 108,391,582 (GRCm39)	D618N	probably damaging	Het
Ripply3	A	G	16: 94,134,139 (GRCm39)	T68A	probably benign	Het
Rrad	A	G	8: 105,356,320 (GRCm39)	M160T	probably benign	Het
Rtn1	A	G	12: 72,350,961 (GRCm39)	V416A	probably damaging	Het
Rttn	A	G	18: 89,035,334 (GRCm39)	N736S	possibly damaging	Het
Sash1	A	T	10: 8,615,969 (GRCm39)	V631E	probably damaging	Het
Selenof	T	A	3: 144,283,370 (GRCm39)	F33L	probably benign	Het
Serpinb6b	A	T	13: 33,155,532 (GRCm39)	N82Y	possibly damaging	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Shpk	G	T	11: 73,104,238 (GRCm39)	R129L	probably damaging	Het
Slc2a10	A	C	2: 165,358,176 (GRCm39)	I434L	probably damaging	Het
Slc30a6	G	T	17: 74,730,059 (GRCm39)	M316I	probably benign	Het
Slx4	A	T	16: 3,803,969 (GRCm39)	H948Q	probably benign	Het
Sncaip	A	G	18: 53,039,726 (GRCm39)	E640G	probably damaging	Het
Sox7	G	A	14: 64,185,509 (GRCm39)	A182T	probably benign	Het
Spata31e5	T	A	1: 28,817,120 (GRCm39)	Y304F	probably benign	Het
Srcin1	A	G	11: 97,442,648 (GRCm39)	I60T	probably benign	Het
Srm	C	T	4: 148,676,039 (GRCm39)		probably benign	Het
Srrt	A	T	5: 137,296,689 (GRCm39)	M447K	possibly damaging	Het
Stam	A	T	2: 14,122,204 (GRCm39)	H101L	probably damaging	Het
Suz12	C	T	11: 79,915,748 (GRCm39)	T407M	possibly damaging	Het
Tbc1d10b	A	G	7: 126,807,036 (GRCm39)	V167A	probably benign	Het
Trav16	T	A	14: 53,980,910 (GRCm39)	V33E	possibly damaging	Het
Tshr	C	T	12: 91,504,409 (GRCm39)	P449L	probably damaging	Het
Ttc17	A	G	2: 94,209,097 (GRCm39)	V119A	probably damaging	Het
Ttc19	A	G	11: 62,203,997 (GRCm39)	I319M	probably benign	Het
Ttc6	A	G	12: 57,664,299 (GRCm39)	M351V	probably benign	Het
Ttn	G	A	2: 76,714,897 (GRCm39)	R8026*	probably null	Het
Ttn	A	T	2: 76,750,210 (GRCm39)	V3613E	probably benign	Het
Txndc16	T	C	14: 45,400,467 (GRCm39)	I345V	probably benign	Het
Ube3b	T	C	5: 114,553,370 (GRCm39)	I914T	probably benign	Het
Vmn1r73	T	C	7: 11,490,407 (GRCm39)	F75S	possibly damaging	Het
Vmn2r54	A	T	7: 12,363,753 (GRCm39)	M380K	possibly damaging	Het
Zfp820	T	C	17: 22,038,107 (GRCm39)	Y407C	probably damaging	Het
Zic5	C	T	14: 122,701,787 (GRCm39)	A315T	unknown	Het
Zmiz1	C	A	14: 25,663,411 (GRCm39)	D1053E	unknown	Het

Other mutations in Nrg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Nrg1	APN	8	32,308,117 (GRCm39)	missense	probably damaging	0.99
IGL00500:Nrg1	APN	8	32,312,342 (GRCm39)	splice site	probably null
IGL01150:Nrg1	APN	8	32,407,903 (GRCm39)	missense	probably damaging	1.00
IGL01998:Nrg1	APN	8	32,408,162 (GRCm39)	missense	probably damaging	0.99
IGL02010:Nrg1	APN	8	32,408,171 (GRCm39)	missense	probably benign	0.00
IGL02501:Nrg1	APN	8	32,308,291 (GRCm39)	splice site	probably null
IGL02741:Nrg1	APN	8	32,312,316 (GRCm39)	missense	probably damaging	1.00
IGL02754:Nrg1	APN	8	32,316,391 (GRCm39)	splice site	probably benign
IGL03056:Nrg1	APN	8	32,311,451 (GRCm39)	missense	possibly damaging	0.93
IGL03121:Nrg1	APN	8	32,314,608 (GRCm39)	splice site	probably benign
R6805_Nrg1_535	UTSW	8	32,311,292 (GRCm39)	missense	probably damaging	1.00
R0533:Nrg1	UTSW	8	32,321,273 (GRCm39)	splice site	probably null
R1170:Nrg1	UTSW	8	32,327,695 (GRCm39)	splice site	probably benign
R1405:Nrg1	UTSW	8	32,407,855 (GRCm39)	missense	probably benign	0.16
R1405:Nrg1	UTSW	8	32,407,855 (GRCm39)	missense	probably benign	0.16
R1486:Nrg1	UTSW	8	32,308,372 (GRCm39)	missense	probably damaging	1.00
R1642:Nrg1	UTSW	8	32,314,536 (GRCm39)	missense	probably benign	0.45
R1653:Nrg1	UTSW	8	32,308,681 (GRCm39)	missense	probably damaging	1.00
R1762:Nrg1	UTSW	8	32,312,351 (GRCm39)	missense	probably damaging	0.99
R1951:Nrg1	UTSW	8	32,408,221 (GRCm39)	missense	probably damaging	1.00
R2060:Nrg1	UTSW	8	32,408,043 (GRCm39)	missense	probably damaging	1.00
R2912:Nrg1	UTSW	8	32,308,595 (GRCm39)	missense	probably damaging	1.00
R3786:Nrg1	UTSW	8	32,311,411 (GRCm39)	missense	probably damaging	1.00
R4513:Nrg1	UTSW	8	32,967,105 (GRCm39)	intron	probably benign
R4569:Nrg1	UTSW	8	32,407,802 (GRCm39)	missense	probably benign	0.00
R4760:Nrg1	UTSW	8	32,408,228 (GRCm39)	nonsense	probably null
R4769:Nrg1	UTSW	8	32,408,000 (GRCm39)	missense	probably damaging	1.00
R4834:Nrg1	UTSW	8	32,407,747 (GRCm39)	missense	probably benign
R5058:Nrg1	UTSW	8	32,314,587 (GRCm39)	missense	probably damaging	1.00
R5230:Nrg1	UTSW	8	32,308,507 (GRCm39)	missense	probably damaging	0.99
R5443:Nrg1	UTSW	8	32,339,348 (GRCm39)	missense	probably damaging	1.00
R5479:Nrg1	UTSW	8	32,308,405 (GRCm39)	missense	probably damaging	1.00
R5940:Nrg1	UTSW	8	32,339,372 (GRCm39)	missense	probably damaging	0.99
R6010:Nrg1	UTSW	8	32,308,600 (GRCm39)	missense	probably damaging	1.00
R6170:Nrg1	UTSW	8	32,308,508 (GRCm39)	missense	probably damaging	1.00
R6379:Nrg1	UTSW	8	33,373,749 (GRCm39)	start gained	probably benign
R6460:Nrg1	UTSW	8	32,308,561 (GRCm39)	missense	probably damaging	1.00
R6750:Nrg1	UTSW	8	32,308,124 (GRCm39)	missense	probably damaging	1.00
R6767:Nrg1	UTSW	8	32,407,923 (GRCm39)	missense	probably damaging	1.00
R6802:Nrg1	UTSW	8	32,311,292 (GRCm39)	missense	probably damaging	1.00
R6804:Nrg1	UTSW	8	32,311,292 (GRCm39)	missense	probably damaging	1.00
R6805:Nrg1	UTSW	8	32,311,292 (GRCm39)	missense	probably damaging	1.00
R6848:Nrg1	UTSW	8	32,308,084 (GRCm39)	missense	probably damaging	1.00
R6930:Nrg1	UTSW	8	32,308,534 (GRCm39)	missense	probably damaging	1.00
R6963:Nrg1	UTSW	8	32,407,690 (GRCm39)	missense	probably benign	0.04
R7070:Nrg1	UTSW	8	32,339,465 (GRCm39)	missense	probably damaging	0.99
R7176:Nrg1	UTSW	8	32,458,064 (GRCm39)	nonsense	probably null
R7490:Nrg1	UTSW	8	32,308,682 (GRCm39)	missense	probably damaging	1.00
R7526:Nrg1	UTSW	8	32,308,351 (GRCm39)	missense	probably benign	0.00
R7664:Nrg1	UTSW	8	32,499,169 (GRCm39)	splice site	probably null
R7881:Nrg1	UTSW	8	32,328,352 (GRCm39)	nonsense	probably null
R8013:Nrg1	UTSW	8	32,439,951 (GRCm39)	missense	probably benign	0.41
R8342:Nrg1	UTSW	8	32,312,334 (GRCm39)	missense	probably benign	0.04
R8759:Nrg1	UTSW	8	32,308,103 (GRCm39)	missense	probably damaging	1.00
R8783:Nrg1	UTSW	8	32,448,629 (GRCm39)	missense	probably benign	0.09
R9319:Nrg1	UTSW	8	32,323,204 (GRCm39)	missense	probably benign	0.02
R9429:Nrg1	UTSW	8	32,308,592 (GRCm39)	missense	probably benign	0.01
R9535:Nrg1	UTSW	8	32,439,995 (GRCm39)	missense	probably benign	0.13
Z1088:Nrg1	UTSW	8	32,408,033 (GRCm39)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- CTCCCGGTTAAAATGCAAACTC -3'
(R):5'- TTCTCTGGATCCAACGGCTG -3'

Sequencing Primer
(F):5'- TCCCGGTTAAAATGCAAACTCAAAGG -3'
(R):5'- GTCTCTAAGGCTCAGTCTGAAGC -3'

Posted On

2022-09-12