Mutagenetix > Incidental Mutation

Incidental Mutation 'R0815:Gucy1b2'

78589

Institutional Source

Beutler Lab

Gene Symbol

Gucy1b2

Ensembl Gene

ENSMUSG00000021933

Gene Name

guanylate cyclase 1, soluble, beta 2

Synonyms

MMRRC Submission

038995-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.367) question?

Stock #

R0815 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62392676-62456289 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62419062 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 282 (D282G)

Ref Sequence

ENSEMBL: ENSMUSP00000022501 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022501] [ENSMUST00000128573] [ENSMUST00000165651]

AlphaFold

Q8BXH3

Predicted Effect

probably benign
Transcript: ENSMUST00000022501
AA Change: D282G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000022501
Gene: ENSMUSG00000021933
AA Change: D282G

Domain	Start	End	E-Value	Type
Pfam:HNOB	83	244	6e-60	PFAM
Blast:CYCc	263	362	3e-24	BLAST
PDB:4GJ4\|D	350	471	4e-8	PDB
CYCc	513	712	1.11e-108	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128573

SMART Domains

Protein: ENSMUSP00000120329
Gene: ENSMUSG00000021933

Domain	Start	End	E-Value	Type
Pfam:HNOB	1	167	1.5e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165651

SMART Domains

Protein: ENSMUSP00000128114
Gene: ENSMUSG00000021933

Domain	Start	End	E-Value	Type
Pfam:HNOB	82	250	1.1e-53	PFAM
Blast:CYCc	263	347	6e-25	BLAST
PDB:4GJ4\|D	335	456	5e-8	PDB
CYCc	498	697	1.11e-108	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.5%
20x: 91.3%

Validation Efficiency

97% (58/60)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit a normal hyperventilation response to a 10% oxygen environment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700057G04Rik	A	T	9: 92,351,087 (GRCm38)	I88L	possibly damaging	Het
Abcb5	A	G	12: 118,901,449 (GRCm38)		probably benign	Het
Abcf2	A	T	5: 24,567,270 (GRCm38)	Y487N	probably damaging	Het
Adcy4	T	C	14: 55,783,599 (GRCm38)	Y27C	probably damaging	Het
Atp2a2	T	C	5: 122,471,236 (GRCm38)	I188V	probably benign	Het
Cacna1s	A	T	1: 136,112,957 (GRCm38)	I1231F	possibly damaging	Het
Capn7	T	A	14: 31,369,757 (GRCm38)	C704S	possibly damaging	Het
Celsr2	G	T	3: 108,401,301 (GRCm38)	T1770K	possibly damaging	Het
Chmp7	C	T	14: 69,719,450 (GRCm38)	M336I	probably benign	Het
Cul9	T	C	17: 46,537,822 (GRCm38)		probably null	Het
Dpp10	A	G	1: 123,432,929 (GRCm38)		probably null	Het
Dscaml1	A	G	9: 45,745,074 (GRCm38)	I1571V	probably benign	Het
Eif3j2	T	A	18: 43,476,971 (GRCm38)	Y259F	probably benign	Het
Erc2	A	C	14: 28,025,148 (GRCm38)	N345T	probably benign	Het
Fbxo21	T	C	5: 117,995,508 (GRCm38)		probably benign	Het
Frmd8	A	T	19: 5,865,056 (GRCm38)		probably benign	Het
Gfm1	T	C	3: 67,474,595 (GRCm38)	S705P	probably damaging	Het
H2-Ab1	T	C	17: 34,267,354 (GRCm38)	I129T	probably damaging	Het
H2-M10.3	T	A	17: 36,366,690 (GRCm38)	Y232F	probably damaging	Het
Lipm	A	T	19: 34,118,761 (GRCm38)	T326S	probably benign	Het
Lrrc8c	T	C	5: 105,608,534 (GRCm38)	L725P	probably damaging	Het
Map3k19	A	G	1: 127,834,638 (GRCm38)		probably benign	Het
Med31	T	A	11: 72,213,831 (GRCm38)	N50I	probably damaging	Het
Mgea5	C	T	19: 45,782,986 (GRCm38)	A49T	probably benign	Het
Myo15b	T	G	11: 115,866,336 (GRCm38)		probably benign	Het
Nemp1	T	C	10: 127,693,024 (GRCm38)	L199S	probably damaging	Het
Nod2	G	A	8: 88,672,662 (GRCm38)		probably benign	Het
Olfr1444	A	G	19: 12,862,644 (GRCm38)	I290V	probably benign	Het
Olfr319	A	G	11: 58,702,609 (GRCm38)	R303G	possibly damaging	Het
Parva	G	A	7: 112,567,864 (GRCm38)	V215M	probably damaging	Het
Phf1	T	C	17: 26,937,140 (GRCm38)		probably benign	Het
Ppp1r12c	G	T	7: 4,486,366 (GRCm38)	Q240K	probably damaging	Het
Ralgapa1	C	A	12: 55,782,777 (GRCm38)		probably benign	Het
Ralgapa1	A	T	12: 55,762,681 (GRCm38)	Y436*	probably null	Het
Rbm11	C	T	16: 75,596,637 (GRCm38)	R74C	probably damaging	Het
Robo3	A	G	9: 37,422,183 (GRCm38)	V744A	probably damaging	Het
Rsbn1	T	G	3: 103,954,153 (GRCm38)	S522A	probably damaging	Het
Scel	T	A	14: 103,586,480 (GRCm38)	S381R	possibly damaging	Het
Sec31b	G	A	19: 44,518,173 (GRCm38)	Q909*	probably null	Het
Slc38a11	T	A	2: 65,353,780 (GRCm38)	I176L	possibly damaging	Het
Slc39a4	C	T	15: 76,612,639 (GRCm38)	D574N	probably damaging	Het
Slc44a1	T	G	4: 53,536,421 (GRCm38)	V199G	possibly damaging	Het
Sltm	A	G	9: 70,561,908 (GRCm38)	T150A	probably benign	Het
Son	C	A	16: 91,655,484 (GRCm38)	A373D	probably damaging	Het
Sp140	C	T	1: 85,620,051 (GRCm38)		probably benign	Het
Speg	A	G	1: 75,415,392 (GRCm38)	Y1606C	probably damaging	Het
Srgap1	A	T	10: 121,785,474 (GRCm38)	V1061D	probably damaging	Het
Stat5a	A	G	11: 100,875,082 (GRCm38)		probably null	Het
Supt4a	T	A	11: 87,737,583 (GRCm38)		probably benign	Het
Teddm1b	A	G	1: 153,874,892 (GRCm38)	K149R	possibly damaging	Het
Thnsl2	A	T	6: 71,134,224 (GRCm38)	L220*	probably null	Het
Tinf2	G	A	14: 55,680,109 (GRCm38)	P308S	probably benign	Het
Tmem131l	A	G	3: 83,940,572 (GRCm38)	S329P	probably benign	Het
Tnf	T	C	17: 35,201,144 (GRCm38)		probably benign	Het
Upp2	A	G	2: 58,771,556 (GRCm38)	T144A	probably benign	Het
Vmn2r94	T	G	17: 18,257,711 (GRCm38)	Q146P	probably damaging	Het
Zfhx4	T	A	3: 5,245,315 (GRCm38)	S919R	possibly damaging	Het

Other mutations in Gucy1b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Gucy1b2	APN	14	62,406,245 (GRCm38)	missense	probably damaging	1.00
IGL00465:Gucy1b2	APN	14	62,403,200 (GRCm38)	missense	probably benign
IGL00756:Gucy1b2	APN	14	62,403,209 (GRCm38)	missense	probably benign
IGL01800:Gucy1b2	APN	14	62,411,655 (GRCm38)	missense	probably benign	0.03
IGL01875:Gucy1b2	APN	14	62,420,146 (GRCm38)	missense	probably damaging	1.00
IGL03033:Gucy1b2	APN	14	62,415,944 (GRCm38)	missense	probably benign	0.00
IGL03110:Gucy1b2	APN	14	62,433,834 (GRCm38)	splice site	probably benign
IGL02796:Gucy1b2	UTSW	14	62,407,694 (GRCm38)	missense	probably benign	0.42
R0183:Gucy1b2	UTSW	14	62,419,140 (GRCm38)	missense	probably damaging	1.00
R0605:Gucy1b2	UTSW	14	62,403,159 (GRCm38)	splice site	probably benign
R0863:Gucy1b2	UTSW	14	62,419,062 (GRCm38)	missense	probably benign	0.00
R0972:Gucy1b2	UTSW	14	62,414,369 (GRCm38)	missense	possibly damaging	0.61
R0972:Gucy1b2	UTSW	14	62,408,678 (GRCm38)	missense	possibly damaging	0.88
R1438:Gucy1b2	UTSW	14	62,414,321 (GRCm38)	missense	probably damaging	0.98
R2011:Gucy1b2	UTSW	14	62,408,758 (GRCm38)	missense	probably damaging	0.99
R2409:Gucy1b2	UTSW	14	62,406,179 (GRCm38)	frame shift	probably null
R3692:Gucy1b2	UTSW	14	62,404,627 (GRCm38)	missense	probably damaging	1.00
R4484:Gucy1b2	UTSW	14	62,411,589 (GRCm38)	missense	possibly damaging	0.88
R4715:Gucy1b2	UTSW	14	62,423,017 (GRCm38)	missense	possibly damaging	0.95
R4730:Gucy1b2	UTSW	14	62,407,759 (GRCm38)	missense	probably damaging	1.00
R4812:Gucy1b2	UTSW	14	62,415,897 (GRCm38)	splice site	probably null
R4839:Gucy1b2	UTSW	14	62,448,246 (GRCm38)	missense	probably damaging	1.00
R5261:Gucy1b2	UTSW	14	62,404,579 (GRCm38)	missense	probably damaging	1.00
R5326:Gucy1b2	UTSW	14	62,453,330 (GRCm38)	critical splice donor site	probably null
R5656:Gucy1b2	UTSW	14	62,422,981 (GRCm38)	missense	probably damaging	1.00
R5779:Gucy1b2	UTSW	14	62,414,301 (GRCm38)	missense	possibly damaging	0.82
R6000:Gucy1b2	UTSW	14	62,419,050 (GRCm38)	missense	probably benign	0.00
R6274:Gucy1b2	UTSW	14	62,415,939 (GRCm38)	missense	probably damaging	1.00
R7457:Gucy1b2	UTSW	14	62,392,952 (GRCm38)	missense	probably benign	0.08
R7487:Gucy1b2	UTSW	14	62,448,223 (GRCm38)	missense	probably damaging	0.97
R7607:Gucy1b2	UTSW	14	62,419,177 (GRCm38)	missense	probably damaging	1.00
R8030:Gucy1b2	UTSW	14	62,392,870 (GRCm38)	missense	probably benign
R8285:Gucy1b2	UTSW	14	62,420,107 (GRCm38)	missense	probably damaging	0.98
R8287:Gucy1b2	UTSW	14	62,411,816 (GRCm38)	missense	probably damaging	1.00
R8970:Gucy1b2	UTSW	14	62,419,215 (GRCm38)	missense	possibly damaging	0.95
RF030:Gucy1b2	UTSW	14	62,408,641 (GRCm38)	critical splice donor site	probably benign
RF035:Gucy1b2	UTSW	14	62,408,641 (GRCm38)	critical splice donor site	probably benign
Z1177:Gucy1b2	UTSW	14	62,453,453 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGATCTTACAGCACAAAGTGCAGCC -3'
(R):5'- GATTTTACCCCTGAGCTGGATTCCC -3'

Sequencing Primer
(F):5'- agtgcagcccatcataacc -3'
(R):5'- CATATGATGCCTATCGTGAAGC -3'

Posted On

2013-10-16