Mutagenetix > Incidental Mutation

Incidental Mutation 'R8939:Sstr4'

680822

Institutional Source

Beutler Lab

Gene Symbol

Sstr4

Ensembl Gene

ENSMUSG00000037014

Gene Name

somatostatin receptor 4

Synonyms

Smstr4, sst4

MMRRC Submission

068712-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.259) question?

Stock #

R8939 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148395344-148396767 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 148396308 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 280 (L280M)

Ref Sequence

ENSEMBL: ENSMUSP00000105588 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109962]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000109962
AA Change: L280M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105588
Gene: ENSMUSG00000037014
AA Change: L280M

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	55	323	4.7e-16	PFAM
Pfam:7tm_1	61	308	2.2e-61	PFAM
Pfam:7TM_GPCR_Srv	117	325	1.8e-10	PFAM
Pfam:7TM_GPCR_Srw	203	326	8.1e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Somatostatin acts at many sites to inhibit the release of many hormones and other secretory proteins. The biologic effects of somatostatin are probably mediated by a family of G protein-coupled receptors that are expressed in a tissue-specific manner. SSTR4 is a member of the superfamily of receptors having seven transmembrane segments and is expressed in highest levels in fetal and adult brain and lung. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygote null mice have increased susceptibility to inflammation, delayed type hypersensitivity, hyperalgesia and airway hypersensitivity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016F16Rik	C	T	13: 58,385,061	A32T	probably damaging	Het
4930578I06Rik	A	G	14: 63,987,713	V12A	probably benign	Het
Abcc12	A	G	8: 86,517,318	Y1069H	probably damaging	Het
Abcc9	T	C	6: 142,679,251	T473A	probably damaging	Het
Acsm1	A	T	7: 119,640,645	T271S	probably benign	Het
Adh6b	T	C	3: 138,349,636	I49T	probably benign	Het
Aff4	A	T	11: 53,372,404	T84S	probably benign	Het
Angptl7	G	A	4: 148,496,499	R280*	probably null	Het
Bhlhe23	T	A	2: 180,776,306	K146N	probably damaging	Het
Cacna1s	T	C	1: 136,086,806		probably null	Het
Cfap45	C	G	1: 172,545,267	R510G	probably damaging	Het
Chl1	A	G	6: 103,665,907	Y202C	probably damaging	Het
Chrna6	T	A	8: 27,406,842	T336S	probably benign	Het
Clpx	A	G	9: 65,324,237	K535E	probably benign	Het
Crybg3	T	C	16: 59,556,149	M1581V	probably benign	Het
Ddx4	A	T	13: 112,622,289	I246K	probably benign	Het
F7	G	T	8: 13,028,724	G52C	probably damaging	Het
Fam186b	T	C	15: 99,279,342	Q701R	probably benign	Het
Fign	T	A	2: 63,979,112	M605L	probably benign	Het
Fpr2	T	C	17: 17,893,621	F293S	probably damaging	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 142,240,434		probably benign	Het
Gria2	A	T	3: 80,710,863		probably benign	Het
Grid1	G	A	14: 35,321,707	D340N	probably damaging	Het
Gsto2	T	C	19: 47,884,764		probably null	Het
Hsd3b1	A	G	3: 98,852,983	W231R	probably damaging	Het
Igflr1	CAGAG	CAG	7: 30,567,463		probably null	Het
Ighv1-80	C	T	12: 115,912,493	G68R	probably damaging	Het
Il10ra	A	G	9: 45,266,504	V69A	unknown	Het
Klhdc1	C	T	12: 69,253,763	A159V	probably damaging	Het
Krtap4-6	A	G	11: 99,665,403	I166T	unknown	Het
Lce1h	A	T	3: 92,763,669	C59S	unknown	Het
Magi3	T	C	3: 104,089,432		probably benign	Het
Map3k1	G	T	13: 111,756,303	S806*	probably null	Het
Map3k6	T	A	4: 133,252,643		probably benign	Het
Mgam	G	A	6: 40,763,203		probably null	Het
Mtx1	A	G	3: 89,212,726	V207A	probably damaging	Het
Muc5ac	A	T	7: 141,793,354	N356Y	probably damaging	Het
Myo16	T	C	8: 10,474,679	F810S	probably damaging	Het
Nlrx1	A	G	9: 44,255,464	L774P	probably damaging	Het
Nr1i2	C	T	16: 38,266,020	V28I	probably benign	Het
Olfr1484	A	C	19: 13,585,496	N64T	probably damaging	Het
Olfr63	A	G	17: 33,269,615	K297R	probably damaging	Het
Pcmtd2	T	C	2: 181,855,070		probably benign	Het
Pcnx3	A	G	19: 5,680,319	L102P	probably damaging	Het
Pnpla6	A	G	8: 3,521,319	E114G	possibly damaging	Het
Ppp4r1	T	C	17: 65,803,931	V70A	probably damaging	Het
Psd2	G	A	18: 35,988,239	V421M	probably damaging	Het
Rbak	C	T	5: 143,174,270	E343K	possibly damaging	Het
Rhbdf1	G	A	11: 32,210,093	A136V	probably benign	Het
Rusc1	T	A	3: 89,088,030	E231D	probably benign	Het
Rxfp1	T	C	3: 79,644,924	E690G	probably damaging	Het
Sdr9c7	A	G	10: 127,898,907	E88G	probably benign	Het
Sec23b	T	C	2: 144,569,217		probably null	Het
Sgcb	A	T	5: 73,644,318	I68N	probably damaging	Het
Sh3pxd2b	T	C	11: 32,414,433		probably benign	Het
Slc25a48	C	T	13: 56,463,706	P209S	probably damaging	Het
Slc9a3	C	A	13: 74,163,776	H614Q	possibly damaging	Het
Slurp1	G	A	15: 74,726,914	S76L	probably damaging	Het
Spen	T	C	4: 141,475,658	E1886G	possibly damaging	Het
Sqor	C	T	2: 122,807,629	P151S	possibly damaging	Het
Stard10	A	G	7: 101,342,640	Y117C	probably damaging	Het
Stard13	A	T	5: 151,045,109		probably null	Het
Stim2	G	T	5: 54,105,331	R305L	possibly damaging	Het
Syt14	G	A	1: 192,930,588	R635C	probably damaging	Het
Tmcc3	A	T	10: 94,545,621		probably benign	Het
Ttn	T	C	2: 76,745,351	N23320S	possibly damaging	Het
Ubqln4	A	G	3: 88,565,716	T493A	probably benign	Het
Ugt2b34	A	G	5: 86,891,299	L501P	probably damaging	Het
Umod	T	C	7: 119,469,477	I449V	probably damaging	Het
Vmn2r51	C	A	7: 10,100,026	D362Y	possibly damaging	Het
Xirp2	A	C	2: 67,516,144	T2910P	probably benign	Het
Zscan20	A	G	4: 128,604,522	S28P	probably benign	Het

Other mutations in Sstr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Sstr4	APN	2	148395552	missense	probably benign	0.00
IGL01536:Sstr4	APN	2	148395880	missense	probably damaging	1.00
IGL02210:Sstr4	APN	2	148396309	missense	probably damaging	1.00
IGL02670:Sstr4	APN	2	148396533	nonsense	probably null
R0396:Sstr4	UTSW	2	148396261	missense	probably damaging	1.00
R1428:Sstr4	UTSW	2	148396359	missense	probably benign	0.01
R1839:Sstr4	UTSW	2	148395533	missense	probably benign	0.21
R2332:Sstr4	UTSW	2	148396410	missense	probably damaging	1.00
R2943:Sstr4	UTSW	2	148396165	missense	probably damaging	0.96
R3700:Sstr4	UTSW	2	148396353	missense	possibly damaging	0.57
R5502:Sstr4	UTSW	2	148395551	small insertion	probably benign
R5503:Sstr4	UTSW	2	148395551	small insertion	probably benign
R5596:Sstr4	UTSW	2	148395732	missense	possibly damaging	0.65
R5726:Sstr4	UTSW	2	148396083	missense	probably damaging	1.00
R6985:Sstr4	UTSW	2	148396249	missense	probably damaging	0.97
R8943:Sstr4	UTSW	2	148395862	missense	possibly damaging	0.94
X0022:Sstr4	UTSW	2	148395532	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGCCATCGGATTATGCTAC -3'
(R):5'- AGAGGAGGGCATATGCATCC -3'

Sequencing Primer
(F):5'- CTACCTGCTTATTGTGGGCAAG -3'
(R):5'- ATAGTAGTCCAGGGGCTCTTCC -3'

Posted On

2021-08-31